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Fusion gene ID: 33711 |
FusionGeneSummary for SHANK2_EFCAB6 |
Fusion gene summary |
Fusion gene information | Fusion gene name: SHANK2_EFCAB6 | Fusion gene ID: 33711 | Hgene | Tgene | Gene symbol | SHANK2 | EFCAB6 | Gene ID | 22941 | 64800 |
Gene name | SH3 and multiple ankyrin repeat domains 2 | EF-hand calcium binding domain 6 | |
Synonyms | AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 | DJBP|HSCBCIP1|dJ185D5.1 | |
Cytomap | 11q13.3-q13.4 | 22q13.2-q13.31 | |
Type of gene | protein-coding | protein-coding | |
Description | SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1 | EF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding protein | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q9UPX8 | Q5THR3 | |
Ensembl transtripts involved in fusion gene | ENST00000449833, ENST00000409161, ENST00000423696, ENST00000338508, ENST00000409530, ENST00000449116, ENST00000357171, ENST00000468619, | ENST00000396231, ENST00000262726, ENST00000358439, ENST00000356087, ENST00000461800, | |
Fusion gene scores | * DoF score | 30 X 12 X 9=3240 | 9 X 8 X 6=432 |
# samples | 28 | 9 | |
** MAII score | log2(28/3240*10)=-3.53249508082702 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/432*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SHANK2 [Title/Abstract] AND EFCAB6 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LUAD | TCGA-86-8673-01A | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000449833 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000449833 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000449833 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000449833 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000449833 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000409161 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000409161 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000409161 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000409161 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000409161 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000423696 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000423696 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000423696 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000423696 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000423696 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000338508 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000338508 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000338508 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000338508 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000338508 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000409530 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000409530 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000409530 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000409530 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000409530 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000449116 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000449116 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000449116 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000449116 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000449116 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000357171 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
In-frame | ENST00000357171 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000357171 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-intron | ENST00000357171 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
5CDS-5UTR | ENST00000357171 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
intron-3CDS | ENST00000468619 | ENST00000396231 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
intron-3CDS | ENST00000468619 | ENST00000262726 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
intron-intron | ENST00000468619 | ENST00000358439 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
intron-intron | ENST00000468619 | ENST00000356087 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
intron-5UTR | ENST00000468619 | ENST00000461800 | SHANK2 | chr11 | 70505933 | - | EFCAB6 | chr22 | 43936237 | - |
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FusionProtFeatures for SHANK2_EFCAB6 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
SHANK2 | EFCAB6 |
Seems to be an adapter protein in the postsynapticdensity (PSD) of excitatory synapses that interconnects receptorsof the postsynaptic membrane including NMDA-type and metabotropicglutamate receptors, and the actin-based cytoskeleton. May play arole in the structural and functional organization of thedendritic spine and synaptic junction. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000423696 | - | 7 | 16 | 147_206 | 308 | 1471 | Domain | SH3 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1359_1394 | 1216 | 1502 | Domain | EF-hand 15 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1434_1469 | 1216 | 1502 | Domain | EF-hand 16 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1470_1501 | 1216 | 1502 | Domain | EF-hand 17 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1069_1104 | 1064 | 1350 | Domain | EF-hand 12 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1176_1211 | 1064 | 1350 | Domain | EF-hand 13 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1212_1247 | 1064 | 1350 | Domain | EF-hand 14 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1359_1394 | 1064 | 1350 | Domain | EF-hand 15 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1434_1469 | 1064 | 1350 | Domain | EF-hand 16 |
Tgene | >EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1470_1501 | 1064 | 1350 | Domain | EF-hand 17 |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000423696 | - | 7 | 16 | 509_535 | 308 | 1471 | Compositional bias | Note=Pro-rich |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000449833 | - | 2 | 10 | 509_535 | 99 | 1255 | Compositional bias | Note=Pro-rich |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000423696 | - | 7 | 16 | 1407_1470 | 308 | 1471 | Domain | SAM |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000423696 | - | 7 | 16 | 247_341 | 308 | 1471 | Domain | PDZ |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000449833 | - | 2 | 10 | 1407_1470 | 99 | 1255 | Domain | SAM |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000449833 | - | 2 | 10 | 147_206 | 99 | 1255 | Domain | SH3 |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000449833 | - | 2 | 10 | 247_341 | 99 | 1255 | Domain | PDZ |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000423696 | - | 7 | 16 | 948_954 | 308 | 1471 | Motif | SH3-binding |
Hgene | >SHANK2 | chr11:70505933 | chr22:43936237 | ENST00000449833 | - | 2 | 10 | 948_954 | 99 | 1255 | Motif | SH3-binding |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 754_765 | 1216 | 1502 | Calcium binding | Ontology_term=ECO:0000255 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 754_765 | 1064 | 1350 | Calcium binding | Ontology_term=ECO:0000255 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1069_1104 | 1216 | 1502 | Domain | EF-hand 12 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1176_1211 | 1216 | 1502 | Domain | EF-hand 13 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1212_1247 | 1216 | 1502 | Domain | EF-hand 14 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 172_207 | 1216 | 1502 | Domain | EF-hand 2 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 297_332 | 1216 | 1502 | Domain | EF-hand 3 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 403_438 | 1216 | 1502 | Domain | EF-hand 4 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 439_474 | 1216 | 1502 | Domain | EF-hand 5 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 504_539 | 1216 | 1502 | Domain | EF-hand 6 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 634_669 | 1216 | 1502 | Domain | EF-hand 7 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 70_105 | 1216 | 1502 | Domain | EF-hand 1 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 741_776 | 1216 | 1502 | Domain | EF-hand 8 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 847_882 | 1216 | 1502 | Domain | EF-hand 9 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 883_918 | 1216 | 1502 | Domain | EF-hand 10 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 964_999 | 1216 | 1502 | Domain | EF-hand 11 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 172_207 | 1064 | 1350 | Domain | EF-hand 2 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 297_332 | 1064 | 1350 | Domain | EF-hand 3 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 403_438 | 1064 | 1350 | Domain | EF-hand 4 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 439_474 | 1064 | 1350 | Domain | EF-hand 5 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 504_539 | 1064 | 1350 | Domain | EF-hand 6 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 634_669 | 1064 | 1350 | Domain | EF-hand 7 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 70_105 | 1064 | 1350 | Domain | EF-hand 1 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 741_776 | 1064 | 1350 | Domain | EF-hand 8 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 847_882 | 1064 | 1350 | Domain | EF-hand 9 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 883_918 | 1064 | 1350 | Domain | EF-hand 10 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 964_999 | 1064 | 1350 | Domain | EF-hand 11 |
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FusionGeneSequence for SHANK2_EFCAB6 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH >In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_384aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_384aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_594aa MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVP GPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTP IEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVS EGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLD ISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDE >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_594aa MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVP GPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTP IEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVS EGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLD ISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDE >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_974aa MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCT LTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYH TAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQSRCWGHISEPHHTLLSGSARSQQSRSASSALHVCAMYSSFSCVRISLLFHGRITEL KQYKKSTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQP QVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVL QKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAAT PMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVA RQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRI >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_974aa MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCT LTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYH TAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQSRCWGHISEPHHTLLSGSARSQQSRSASSALHVCAMYSSFSCVRISLLFHGRITEL KQYKKSTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQP QVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVL QKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAAT PMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVA RQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRI >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_384aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_384aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_385aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG LRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAS TTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQS CVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFH |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT >In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1152nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1152nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1782nt ATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAAC ACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCC ACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCC GGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCG CCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGG CTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGT GAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGAC AGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1782nt ATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAAC ACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCC ACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCC GGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCG CCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGG CTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGT GAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGAC AGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_2922nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGAC AGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACA CCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCC ACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAG AACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCC AGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATT ATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCA CTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATT CAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGAT TTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCA >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_2922nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGAC AGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACA CCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCC ACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAG AACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCC AGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATT ATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCA CTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATT CAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGAT TTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCA >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1152nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1152nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1155nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTC CTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTC TCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGC ACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAG CTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTG GACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGC TGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAG ACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGAT GAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCAT |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1315nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT >In-frame_SHANK2_ENST00000449833_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1315nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1261nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1261nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1928nt ATATAATGAGCGGACCGCTGCCAAAGTCAGAGGGAAAATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGC CCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAA TGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCC CGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGA CGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGG GCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCT TCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGC GGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACAC CGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTT TGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTC CGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGT CAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGC CGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTC AAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAG GCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTC CGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAA CGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCA GAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTG GAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTA CAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCT CCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATT >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1928nt ATATAATGAGCGGACCGCTGCCAAAGTCAGAGGGAAAATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGC CCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAA TGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCC CGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGA CGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGG GCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCT TCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGC GGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACAC CGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTT TGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTC CGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGT CAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGC CGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTC AAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAG GCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTC CGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAA CGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCA GAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTG GAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTA CAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCT CCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATT >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_3031nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGAC AGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACA CCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCC ACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAG AACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCC AGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATT ATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCA CTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATT CAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGAT TTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCA AAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTC >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_3031nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGAC AGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACA CCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCC ACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAG AACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCC AGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATT ATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCA CTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATT CAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGAT TTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCA AAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTC >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1261nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1261nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1337nt CTCCTCCTGCACCCTCGCTGCCTCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCC CGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGA GAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCAC ACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTT CTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTC CGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATC TGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGG CACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAA GGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGA GTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAA AGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTC TGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCT GCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGA TAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAG >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1337nt CTCCTCCTGCACCCTCGCTGCCTCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCC CGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGA GAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCAC ACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTT CTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTC CGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATC TGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGG CACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAA GGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGA GTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAA AGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTC TGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCT GCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGA TAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAG >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000396231_chr22_43936237_-_1315nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_EFCAB6_ENST00000262726_chr22_43936237_-_1315nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT |
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FusionGenePPI for SHANK2_EFCAB6 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SHANK2 | CTTN, DNM2, ARHGEF7, DLGAP1, DLG4, DYNLL2, DYNLL1, MYO5A, DLGAP2, DLGAP3, DLGAP4, NLK, SHARPIN, XPO1, CDH1, EGFR, TRIM25 | EFCAB6 | PARK7, AR, HDAC1, SIN3A |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1407_1501 | 1216 | 1502 | AR |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1407_1501 | 1064 | 1350 | AR |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000262726 | - | 26 | 32 | 1303_1501 | 1216 | 1502 | PARK7 |
Tgene | EFCAB6 | chr11:70505933 | chr22:43936237 | ENST00000396231 | - | 24 | 30 | 1303_1501 | 1064 | 1350 | PARK7 |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SHANK2_EFCAB6 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SHANK2_EFCAB6 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SHANK2 | C0004352 | Autistic Disorder | 2 | CTD_human |
Hgene | SHANK2 | C3714756 | Intellectual Disability | 1 | CTD_human |