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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 33711

FusionGeneSummary for SHANK2_EFCAB6

check button Fusion gene summary
Fusion gene informationFusion gene name: SHANK2_EFCAB6
Fusion gene ID: 33711
HgeneTgene
Gene symbol

SHANK2

EFCAB6

Gene ID

22941

64800

Gene nameSH3 and multiple ankyrin repeat domains 2EF-hand calcium binding domain 6
SynonymsAUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3DJBP|HSCBCIP1|dJ185D5.1
Cytomap

11q13.3-q13.4

22q13.2-q13.31

Type of geneprotein-codingprotein-coding
DescriptionSH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1EF-hand calcium-binding domain-containing protein 6CAP-binding protein complex-interacting protein 1DJ-1-binding protein
Modification date2018052320180523
UniProtAcc

Q9UPX8

Q5THR3

Ensembl transtripts involved in fusion geneENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
ENST00000396231, ENST00000262726, 
ENST00000358439, ENST00000356087, 
ENST00000461800, 
Fusion gene scores* DoF score30 X 12 X 9=32409 X 8 X 6=432
# samples 289
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-86-8673-01ASHANK2chr11

70505933

-EFCAB6chr22

43936237

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000449833ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000449833ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000449833ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000449833ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000449833ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000409161ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000409161ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000409161ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000409161ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000409161ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000423696ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000423696ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000423696ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000423696ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000423696ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000338508ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000338508ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000338508ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000338508ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000338508ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000409530ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000409530ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000409530ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000409530ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000409530ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000449116ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000449116ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000449116ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000449116ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000449116ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000357171ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
In-frameENST00000357171ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000357171ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-intronENST00000357171ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
5CDS-5UTRENST00000357171ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
intron-3CDSENST00000468619ENST00000396231SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
intron-3CDSENST00000468619ENST00000262726SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
intron-intronENST00000468619ENST00000358439SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
intron-intronENST00000468619ENST00000356087SHANK2chr11

70505933

-EFCAB6chr22

43936237

-
intron-5UTRENST00000468619ENST00000461800SHANK2chr11

70505933

-EFCAB6chr22

43936237

-

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FusionProtFeatures for SHANK2_EFCAB6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SHANK2

Q9UPX8

EFCAB6

Q5THR3

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.

check buttonRetention 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

download page

.

* 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.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716147_2063081471DomainSH3
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321359_139412161502DomainEF-hand 15
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321434_146912161502DomainEF-hand 16
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321470_150112161502DomainEF-hand 17
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301069_110410641350DomainEF-hand 12
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301176_121110641350DomainEF-hand 13
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301212_124710641350DomainEF-hand 14
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301359_139410641350DomainEF-hand 15
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301434_146910641350DomainEF-hand 16
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301470_150110641350DomainEF-hand 17

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716509_5353081471Compositional biasNote=Pro-rich
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210509_535991255Compositional biasNote=Pro-rich
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-7161407_14703081471DomainSAM
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716247_3413081471DomainPDZ
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-2101407_1470991255DomainSAM
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210147_206991255DomainSH3
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210247_341991255DomainPDZ
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716948_9543081471MotifSH3-binding
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210948_954991255MotifSH3-binding
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632754_76512161502Calcium bindingOntology_term=ECO:0000255
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430754_76510641350Calcium bindingOntology_term=ECO:0000255
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321069_110412161502DomainEF-hand 12
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321176_121112161502DomainEF-hand 13
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321212_124712161502DomainEF-hand 14
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632172_20712161502DomainEF-hand 2
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632297_33212161502DomainEF-hand 3
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632403_43812161502DomainEF-hand 4
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632439_47412161502DomainEF-hand 5
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632504_53912161502DomainEF-hand 6
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632634_66912161502DomainEF-hand 7
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-263270_10512161502DomainEF-hand 1
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632741_77612161502DomainEF-hand 8
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632847_88212161502DomainEF-hand 9
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632883_91812161502DomainEF-hand 10
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-2632964_99912161502DomainEF-hand 11
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430172_20710641350DomainEF-hand 2
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430297_33210641350DomainEF-hand 3
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430403_43810641350DomainEF-hand 4
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430439_47410641350DomainEF-hand 5
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430504_53910641350DomainEF-hand 6
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430634_66910641350DomainEF-hand 7
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-243070_10510641350DomainEF-hand 1
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430741_77610641350DomainEF-hand 8
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430847_88210641350DomainEF-hand 9
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430883_91810641350DomainEF-hand 10
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-2430964_99910641350DomainEF-hand 11


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FusionGeneSequence for SHANK2_EFCAB6


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SHANK2CTTN, DNM2, ARHGEF7, DLGAP1, DLG4, DYNLL2, DYNLL1, MYO5A, DLGAP2, DLGAP3, DLGAP4, NLK, SHARPIN, XPO1, CDH1, EGFR, TRIM25EFCAB6PARK7, AR, HDAC1, SIN3A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321407_150112161502AR
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301407_150110641350AR
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726-26321303_150112161502PARK7
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231-24301303_150110641350PARK7


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SHANK2_EFCAB6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SHANK2_EFCAB6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHANK2C0004352Autistic Disorder2CTD_human
HgeneSHANK2C3714756Intellectual Disability1CTD_human