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Fusion gene ID: 33712 |
FusionGeneSummary for SHANK2_ELP4 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SHANK2_ELP4 | Fusion gene ID: 33712 | Hgene | Tgene | Gene symbol | SHANK2 | ELP4 | Gene ID | 22941 | 26610 |
| Gene name | SH3 and multiple ankyrin repeat domains 2 | elongator acetyltransferase complex subunit 4 | |
| Synonyms | AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3 | AN|AN2|C11orf19|PAX6NEB|PAXNEB|dJ68P15A.1|hELP4 | |
| Cytomap | 11q13.3-q13.4 | 11p13 | |
| 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 | elongator complex protein 4PAX6 neighbor gene proteinelongation protein 4 homolog | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UPX8 | Q96EB1 | |
| Ensembl transtripts involved in fusion gene | ENST00000449833, ENST00000409161, ENST00000423696, ENST00000338508, ENST00000409530, ENST00000449116, ENST00000357171, ENST00000468619, | ENST00000350638, ENST00000379163, ENST00000395934, | |
| Fusion gene scores | * DoF score | 30 X 12 X 9=3240 | 5 X 4 X 5=100 |
| # samples | 28 | 5 | |
| ** MAII score | log2(28/3240*10)=-3.53249508082702 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: SHANK2 [Title/Abstract] AND ELP4 [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 |
| Tgene | ELP4 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
| Tgene | ELP4 | GO:0043966 | histone H3 acetylation | 11714725 |
| Tgene | ELP4 | GO:0043967 | histone H4 acetylation | 11714725 |
| 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 | BRCA | TCGA-E2-A106-01A | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| * 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 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449833 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449833 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000409161 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409161 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409161 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000423696 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000423696 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000423696 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000338508 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000338508 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000338508 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000409530 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409530 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000409530 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000449116 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449116 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000449116 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| In-frame | ENST00000357171 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000357171 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| Frame-shift | ENST00000357171 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000350638 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000379163 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
| intron-3CDS | ENST00000468619 | ENST00000395934 | SHANK2 | chr11 | 70505933 | - | ELP4 | chr11 | 31804941 | + |
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FusionProtFeatures for SHANK2_ELP4 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SHANK2 | ELP4 |
| 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. | Acts as subunit of the RNA polymerase II elongatorcomplex, which is a histone acetyltransferase component of the RNApolymerase II (Pol II) holoenzyme and is involved intranscriptional elongation. Elongator may play a role in chromatinremodeling and is involved in acetylation of histones H3 andprobably H4. {ECO:0000269|PubMed:11714725,ECO:0000269|PubMed:11818576, ECO:0000269|PubMed:16713582}. |
| 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 | chr11:31804941 | ENST00000423696 | - | 7 | 16 | 147_206 | 308 | 1471 | Domain | SH3 |
| - 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 | chr11:31804941 | ENST00000423696 | - | 7 | 16 | 509_535 | 308 | 1471 | Compositional bias | Note=Pro-rich |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000449833 | - | 2 | 10 | 509_535 | 99 | 1255 | Compositional bias | Note=Pro-rich |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000423696 | - | 7 | 16 | 1407_1470 | 308 | 1471 | Domain | SAM |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000423696 | - | 7 | 16 | 247_341 | 308 | 1471 | Domain | PDZ |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000449833 | - | 2 | 10 | 1407_1470 | 99 | 1255 | Domain | SAM |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000449833 | - | 2 | 10 | 147_206 | 99 | 1255 | Domain | SH3 |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000449833 | - | 2 | 10 | 247_341 | 99 | 1255 | Domain | PDZ |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000423696 | - | 7 | 16 | 948_954 | 308 | 1471 | Motif | SH3-binding |
| Hgene | >SHANK2 | chr11:70505933 | chr11:31804941 | ENST00000449833 | - | 2 | 10 | 948_954 | 99 | 1255 | Motif | SH3-binding |
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FusionGeneSequence for SHANK2_ELP4 |
| 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_-_ELP4_ENST00000350638_chr11_31804941_+_143aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_142aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_352aa MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVP GPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTP >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_732aa MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCT LTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYH TAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQSRCWGHISEPHHTLLSGSARSQQSRSASSALHVCAMYSSFSCVRISLLFHGRITEL KQYKKSTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQP QVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVL QKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIERLHLPPDLSDTVSRSSKMDLAESAKRLGPGCG >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_142aa MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_143aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_143aa MMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAG |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SHANK2_ENST00000449833_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_429nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCA >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_426nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAA >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_1056nt ATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAAC ACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCC ACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCC GGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCG CCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGG CTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGT GAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGAC AGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAA >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_2196nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGCGACTG CATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCTGGGCCCAGGCTGTGGC >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_426nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAA >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_429nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCA >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_429nt ATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGT GACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACA CCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGA CTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SHANK2_ENST00000449833_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_954nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTG CCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCTGGGCCCAGGCTGTGGCATGATG GCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATGCAGAATTCTATGACACTCTAATTATGATTGCTAATA GCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACAGGATTATAAAATGGTGCCGCCATTTCTCATTTTTTA ACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTCTAGAGAAAATAATTTTATTTTTAAATAAACGCCAAA AAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGCATTTAGTGTCATGGTAAAGTGCATGTCACAGCAGGT AGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTTTATTACAGAAACAGTCACTTGCCACCAAAAATGCTG >In-frame_SHANK2_ENST00000409161_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_900nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAA TCCGCCAAGCGGCTGGGCCCAGGCTGTGGCATGATGGCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATG CAGAATTCTATGACACTCTAATTATGATTGCTAATAGCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACA GGATTATAAAATGGTGCCGCCATTTCTCATTTTTTAACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTC TAGAGAAAATAATTTTATTTTTAAATAAACGCCAAAAAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGC ATTTAGTGTCATGGTAAAGTGCATGTCACAGCAGGTAGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTT TATTACAGAAACAGTCACTTGCCACCAAAAATGCTGTTTTTTAAATGAAAATGTGTTTACTAATATATAAAATAAATTTGCATTTATGTA >In-frame_SHANK2_ENST00000423696_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_1567nt ATATAATGAGCGGACCGCTGCCAAAGTCAGAGGGAAAATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGC CCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAA TGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCC CGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGA CGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGG GCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCT TCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGC GGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACAC CGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTT TGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTC CGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGA CACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCTGGGCCCAGGCTGTGGCATGATGGCCGGAGGCAAGAAGCA CCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATGCAGAATTCTATGACACTCTAATTATGATTGCTAATAGCTTATGTAAATATTTT TCTTAACAATTTGACCCTCCACTCCTTGAAAAACACAGGATTATAAAATGGTGCCGCCATTTCTCATTTTTTAACTTTTTACAGAACTAG CACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTCTAGAGAAAATAATTTTATTTTTAAATAAACGCCAAAAAATGTCAAAATCTCAA GATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGCATTTAGTGTCATGGTAAAGTGCATGTCACAGCAGGTAGCATACAAAACATGAT GAAATTCAAGATTGTATGTGAAAACATACTTTCTCTTTATTACAGAAACAGTCACTTGCCACCAAAAATGCTGTTTTTTAAATGAAAATG >In-frame_SHANK2_ENST00000338508_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_2670nt ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCCGTGGGGTCGGAGTCAGACAGCTCCAAAGAA GAGACCATCTATGACACGATCCGGGCCACTGCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC GTGGTCATCCATGACCTGCAGCAGACGAAATGCATTCGATTTAACCCGGATGCCACAGTGTGGGTTGCAAAGCAGCGGATCCTGTGTACA TTAACCCAGAGTTTGAAAGATGTCCTGAACTACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAGTTTCGATACAAGAAGCGGGTGTATAAACAAGCCAGTCTC GATGAGAAACAGTTGGCCAAGCTCCACACGAAGACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAGAGACCCCCCTGACCTTAGCCGCTCAGCTGGACGACTCT GTGGAGGTCATCAAAGCTCTCAAAAATGGTGGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA GCGAGGAACCAAGTTGCCCTGAAGACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAAGACAGTTACGGCCTCACCCCGCTGTATCAC ACAGCCATCGTCGGAGGTGATCCCTACTGCTGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC GAGATCCACCAGTCTAGGTGCTGGGGACACATCAGTGAGCCACACCACACTCTGCTCTCTGGAAGTGCACGAAGTCAACAAAGCCGAAGT GCTTCCTCTGCACTCCATGTCTGTGCTATGTATTCATCTTTTTCCTGTGTCAGAATCTCGTTGCTTTTTCATGGCCGAATAACTGAATTA AAACAGTACAAAAAGAGCACCCCCTTCCAGGTGGCCATAATAGCAGGCAACTTTGAGCTGGCAGAATACATCAAGAACCACAAGGAAACA GACATTGTGCCCTTCCGAGAGGCCCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGC TCCAACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTG CTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAAC AGGCTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCA CTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCC CAAGTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGC GGCCACATCGGATGGTTTCCGGCGGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGC AAGAAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTG CAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTC CCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGCGACTG CATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCTGGGCCCAGGCTGTGGC ATGATGGCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATGCAGAATTCTATGACACTCTAATTATGATTG CTAATAGCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACAGGATTATAAAATGGTGCCGCCATTTCTCAT TTTTTAACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTCTAGAGAAAATAATTTTATTTTTAAATAAAC GCCAAAAAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGCATTTAGTGTCATGGTAAAGTGCATGTCACA GCAGGTAGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTTTATTACAGAAACAGTCACTTGCCACCAAAA >In-frame_SHANK2_ENST00000409530_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_900nt ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA AGGACCGGGGACTTCTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAA TCCGCCAAGCGGCTGGGCCCAGGCTGTGGCATGATGGCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATG CAGAATTCTATGACACTCTAATTATGATTGCTAATAGCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACA GGATTATAAAATGGTGCCGCCATTTCTCATTTTTTAACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTC TAGAGAAAATAATTTTATTTTTAAATAAACGCCAAAAAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGC ATTTAGTGTCATGGTAAAGTGCATGTCACAGCAGGTAGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTT TATTACAGAAACAGTCACTTGCCACCAAAAATGCTGTTTTTTAAATGAAAATGTGTTTACTAATATATAAAATAAATTTGCATTTATGTA >In-frame_SHANK2_ENST00000449116_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_976nt CTCCTCCTGCACCCTCGCTGCCTCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCC CGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGA GAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCAC ACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTT CTTGATTGAGCGACTGCATTTGCCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCT GGGCCCAGGCTGTGGCATGATGGCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATGCAGAATTCTATGAC ACTCTAATTATGATTGCTAATAGCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACAGGATTATAAAATGG TGCCGCCATTTCTCATTTTTTAACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTCTAGAGAAAATAATT TTATTTTTAAATAAACGCCAAAAAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGCATTTAGTGTCATGG TAAAGTGCATGTCACAGCAGGTAGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTTTATTACAGAAACAG >In-frame_SHANK2_ENST00000357171_chr11_70505933_-_ELP4_ENST00000350638_chr11_31804941_+_954nt TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGCGACTGCATTTG CCTCCAGACTTGTCAGACACAGTGAGCCGCTCAAGCAAAATGGATCTGGCAGAATCCGCCAAGCGGCTGGGCCCAGGCTGTGGCATGATG GCCGGAGGCAAGAAGCACCTGGACTTCTAGGGATTCCTCCTTAGTCGCTGCATGCAGAATTCTATGACACTCTAATTATGATTGCTAATA GCTTATGTAAATATTTTTCTTAACAATTTGACCCTCCACTCCTTGAAAAACACAGGATTATAAAATGGTGCCGCCATTTCTCATTTTTTA ACTTTTTACAGAACTAGCACAGCAGAAATACTTTTAAATTTTTCCTTCATGCTCTAGAGAAAATAATTTTATTTTTAAATAAACGCCAAA AAATGTCAAAATCTCAAGATTCCTGACAGTGGTCATTCGTGTGTGTACTAAGGCATTTAGTGTCATGGTAAAGTGCATGTCACAGCAGGT AGCATACAAAACATGATGAAATTCAAGATTGTATGTGAAAACATACTTTCTCTTTATTACAGAAACAGTCACTTGCCACCAAAAATGCTG |
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FusionGenePPI for SHANK2_ELP4 |
| 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 | ELP4 | IKBKAP, ELP2, ELP3, HINFP, PPP1CC, CBX6, MMS19, SRP68, FAM96B, CIAO1, SHMT2, ELP6, PIPOX, SF3B3, ID2, CDH1, EGFR |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - 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_ELP4 |
| 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_ELP4 |
| 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 |
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