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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SHANK2-EFCAB6 (FusionGDB2 ID:80987)

Fusion Gene Summary for SHANK2-EFCAB6

check button Fusion gene summary
Fusion gene informationFusion gene name: SHANK2-EFCAB6
Fusion gene ID: 80987
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 proteinepididymis secretory sperm binding protein
Modification date2020032620200313
UniProtAcc.

Q5THR3

Ensembl transtripts involved in fusion geneENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
ENST00000396231, ENST00000262726, 
ENST00000358439, ENST00000356087, 
ENST00000461800, 
Fusion gene scores* DoF score50 X 31 X 10=1550029 X 21 X 6=3654
# samples 5131
** MAII scorelog2(51/15500*10)=-4.9256271581901
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(31/3654*10)=-3.55913651335325
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]

Most frequent breakpointSHANK2(70505933)-EFCAB6(43936237), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across SHANK2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EFCAB6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LUADTCGA-86-8673-01ASHANK2chr11

70505933

-EFCAB6chr22

43936237

-
ChimerDB4LUADTCGA-86-8673-01ASHANK2chr11

70505933

-EFCAB6chr22

43936237

-
ChimerDB4LUADTCGA-86-8673-01ASHANK2chr11

70505933

-EFCAB6chr22

43936237

-


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Fusion Gene ORF analysis for SHANK2-EFCAB6

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000449833SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-1315348451205386
ENST00000449833SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-1315348451205386
ENST00000409161SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-126129401151383
ENST00000409161SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-126129401151383
ENST00000423696SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-1928961371818593
ENST00000423696SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-1928961371818593
ENST00000338508SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-3031206402921973
ENST00000338508SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-3031206402921973
ENST00000409530SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-126129401151383
ENST00000409530SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-126129401151383
ENST00000449116SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-1337370671227386
ENST00000449116SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-1337370671227386
ENST00000357171SHANK2chr1170505933-ENST00000396231EFCAB6chr2243936237-1315348451205386
ENST00000357171SHANK2chr1170505933-ENST00000262726EFCAB6chr2243936237-1315348451205386

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000449833ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0034782590.9965217
ENST00000449833ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0034782590.9965217
ENST00000409161ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0069136760.99308634
ENST00000409161ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0069136760.99308634
ENST00000423696ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0194575670.9805424
ENST00000423696ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0194575670.9805424
ENST00000338508ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0026056390.9973943
ENST00000338508ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0026056390.9973943
ENST00000409530ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0069136760.99308634
ENST00000409530ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0069136760.99308634
ENST00000449116ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0038511180.99614894
ENST00000449116ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0038511180.99614894
ENST00000357171ENST00000396231SHANK2chr1170505933-EFCAB6chr2243936237-0.0034782590.9965217
ENST00000357171ENST00000262726SHANK2chr1170505933-EFCAB6chr2243936237-0.0034782590.9965217

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Fusion Genomic Features for SHANK2-EFCAB6


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SHANK2-EFCAB6


check button Go to

FGviewer for the breakpoints of chr11:70505933-chr22:43936237

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.EFCAB6

Q5THR3

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Negatively regulates the androgen receptor by recruiting histone deacetylase complex, and protein DJ-1 antagonizes this inhibition by abrogation of this complex. {ECO:0000269|PubMed:12612053}.

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_206308.01471.0DomainSH3
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321359_13941216.01502.0DomainEF-hand 15
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321434_14691216.01502.0DomainEF-hand 16
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321470_15011216.01502.0DomainEF-hand 17
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301069_11041064.01350.0DomainEF-hand 12
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301176_12111064.01350.0DomainEF-hand 13
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301212_12471064.01350.0DomainEF-hand 14
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301359_13941064.01350.0DomainEF-hand 15
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301434_14691064.01350.0DomainEF-hand 16
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301470_15011064.01350.0DomainEF-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_535308.01471.0Compositional biasNote=Pro-rich
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210509_53599.01255.0Compositional biasNote=Pro-rich
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-7161407_1470308.01471.0DomainSAM
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716247_341308.01471.0DomainPDZ
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-2101407_147099.01255.0DomainSAM
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210147_20699.01255.0DomainSH3
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210247_34199.01255.0DomainPDZ
HgeneSHANK2chr11:70505933chr22:43936237ENST00000423696-716948_954308.01471.0MotifSH3-binding
HgeneSHANK2chr11:70505933chr22:43936237ENST00000449833-210948_95499.01255.0MotifSH3-binding
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632754_7651216.01502.0Calcium bindingOntology_term=ECO:0000255
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430754_7651064.01350.0Calcium bindingOntology_term=ECO:0000255
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321069_11041216.01502.0DomainEF-hand 12
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321176_12111216.01502.0DomainEF-hand 13
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321212_12471216.01502.0DomainEF-hand 14
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632172_2071216.01502.0DomainEF-hand 2
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632297_3321216.01502.0DomainEF-hand 3
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632403_4381216.01502.0DomainEF-hand 4
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632439_4741216.01502.0DomainEF-hand 5
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632504_5391216.01502.0DomainEF-hand 6
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632634_6691216.01502.0DomainEF-hand 7
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000262726263270_1051216.01502.0DomainEF-hand 1
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632741_7761216.01502.0DomainEF-hand 8
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632847_8821216.01502.0DomainEF-hand 9
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632883_9181216.01502.0DomainEF-hand 10
TgeneEFCAB6chr11:70505933chr22:43936237ENST000002627262632964_9991216.01502.0DomainEF-hand 11
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430172_2071064.01350.0DomainEF-hand 2
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430297_3321064.01350.0DomainEF-hand 3
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430403_4381064.01350.0DomainEF-hand 4
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430439_4741064.01350.0DomainEF-hand 5
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430504_5391064.01350.0DomainEF-hand 6
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430634_6691064.01350.0DomainEF-hand 7
TgeneEFCAB6chr11:70505933chr22:43936237ENST00000396231243070_1051064.01350.0DomainEF-hand 1
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430741_7761064.01350.0DomainEF-hand 8
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430847_8821064.01350.0DomainEF-hand 9
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430883_9181064.01350.0DomainEF-hand 10
TgeneEFCAB6chr11:70505933chr22:43936237ENST000003962312430964_9991064.01350.0DomainEF-hand 11


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Fusion Gene Sequence for SHANK2-EFCAB6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000449833_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1315nt_BP=348nt
TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG
ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA
AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC
CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC
TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG
GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG
GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT
GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG
GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA
TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG
CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC
AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG
ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC
TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT

>In-frame_ENST00000449833_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=45_stop in transcript=1205
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------
>In-frame_ENST00000449833_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1315nt_BP=348nt
TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG
ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA
AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC
CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC
TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG
GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG
GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT
GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG
GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA
TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG
CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC
AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG
ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC
TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT

>In-frame_ENST00000449833_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=45_stop in transcript=1205
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------
>In-frame_ENST00000409161_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1261nt_BP=294nt
ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC
TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC
ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA
AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG
AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG
GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC
ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC
CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC
ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT
GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG
CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG
GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT
CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC
CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA

>In-frame_ENST00000409161_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=383AA_start in transcript=0_stop in transcript=1151
MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST
TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC
VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI

--------------------------------------------------------------
>In-frame_ENST00000409161_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1261nt_BP=294nt
ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC
TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC
ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA
AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG
AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG
GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC
ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC
CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC
ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT
GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG
CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG
GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT
CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC
CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA

>In-frame_ENST00000409161_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=383AA_start in transcript=0_stop in transcript=1151
MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST
TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC
VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI

--------------------------------------------------------------
>In-frame_ENST00000423696_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1928nt_BP=961nt
ATATAATGAGCGGACCGCTGCCAAAGTCAGAGGGAAAATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGC
CCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAA
TGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCC
CGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGA
CGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGG
GCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCT
TCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGC
GGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACAC
CGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTT
TGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTC
CGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGT
CAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGC
CGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTC
AAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAG
GCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTC
CGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAA
CGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCA
GAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTG
GAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTA
CAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCT
CCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATT

>In-frame_ENST00000423696_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=593AA_start in transcript=37_stop in transcript=1818
MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVP
GPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG
EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTP
IEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVS
EGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLD
ISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDE

--------------------------------------------------------------
>In-frame_ENST00000423696_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1928nt_BP=961nt
ATATAATGAGCGGACCGCTGCCAAAGTCAGAGGGAAAATGAAGTCTTTGTTAAATGCCTTCACCAAGAAGGAAGTGCCCTTCCGAGAGGC
CCCGGCGTACTCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCCAACAGTGACAACAACCTCAA
TGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACCTCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCC
CGAGGGGGCCGCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGGCTGGGCGGCGCAGGCGAGGA
CGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGGGTCGCCTTTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGG
GCCCAAGCGGAAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAAGTGGACGGCGAGATCCCCCT
TCACCGCGGTGACAGGGTCAAAGTTCTGAGCATCGGTGAAGGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGC
GGAGTGCGTGGAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAGAAACCCGCGCTGACCGCAGCAAGAAGCTTTTCAGGCACTACAC
CGTGGGCTCCTATGACAGCTTCGACACTTCCAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTT
TGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTC
CGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGT
CAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGC
CGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTC
AAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAG
GCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTC
CGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAA
CGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCA
GAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTG
GAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTA
CAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCT
CCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATT

>In-frame_ENST00000423696_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=593AA_start in transcript=37_stop in transcript=1818
MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQLLQQMPSKPEGAAKTIGSYVP
GPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG
EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTP
IEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVS
EGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLD
ISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDE

--------------------------------------------------------------
>In-frame_ENST00000338508_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=3031nt_BP=2064nt
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_ENST00000338508_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=973AA_start in transcript=0_stop in transcript=2921
MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCT
LTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT
KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYH
TAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQSRCWGHISEPHHTLLSGSARSQQSRSASSALHVCAMYSSFSCVRISLLFHGRITEL
KQYKKSTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL
LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQP
QVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVL
QKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAAT
PMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVA
RQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRI

--------------------------------------------------------------
>In-frame_ENST00000338508_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=3031nt_BP=2064nt
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_ENST00000338508_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=973AA_start in transcript=0_stop in transcript=2921
MPRSPTSSEDEMAQSFSDYSVGSESDSSKEETIYDTIRATAEKPGGARTEESQGNTLVIRVVIHDLQQTKCIRFNPDATVWVAKQRILCT
LTQSLKDVLNYGLFQPASNGRDGKFLDEERLLREYPQPVGEGVPSLEFRYKKRVYKQASLDEKQLAKLHTKTNLKKCMDHIQHRLVEKIT
KMLDRGLDPNFHDPETGETPLTLAAQLDDSVEVIKALKNGGAHLDFRAKDGMTALHKAARARNQVALKTLLELGASPDYKDSYGLTPLYH
TAIVGGDPYCCELLLHEHATVCCKDENGWHEIHQSRCWGHISEPHHTLLSGSARSQQSRSASSALHVCAMYSSFSCVRISLLFHGRITEL
KQYKKSTPFQVAIIAGNFELAEYIKNHKETDIVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTATSHRSLSPQL
LQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGSPFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQP
QVDGEIPLHRGDRVKVLSIGEGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSDCIIEEKTVVL
QKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAAT
PMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVA
RQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRI

--------------------------------------------------------------
>In-frame_ENST00000409530_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1261nt_BP=294nt
ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC
TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC
ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA
AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG
AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG
GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC
ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC
CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC
ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT
GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG
CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG
GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT
CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC
CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA

>In-frame_ENST00000409530_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=383AA_start in transcript=0_stop in transcript=1151
MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST
TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC
VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI

--------------------------------------------------------------
>In-frame_ENST00000409530_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1261nt_BP=294nt
ATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGAC
TGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCC
ATTGAAGAATTCACACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTA
AGGACCGGGGACTTCTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTG
AGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCG
GAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACC
ACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTC
CTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGAC
ATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGT
GTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACG
CCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAG
GCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATT
CTGGAGTATTACGATAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCC
CAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCTAATAAAATCCTATAATTTGGGGGTTTCATGAATTTTCAAAAAAAACAAAACTCA

>In-frame_ENST00000409530_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=383AA_start in transcript=0_stop in transcript=1151
MMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTPAST
TVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFIQSC
VLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEFFHI

--------------------------------------------------------------
>In-frame_ENST00000449116_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1337nt_BP=370nt
CTCCTCCTGCACCCTCGCTGCCTCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCC
CGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGA
GAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCAC
ACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTT
CTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTC
CGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATC
TGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGG
CACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAA
GGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGA
GTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAA
AGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTC
TGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCT
GCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGA
TAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAG

>In-frame_ENST00000449116_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=67_stop in transcript=1227
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------
>In-frame_ENST00000449116_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1337nt_BP=370nt
CTCCTCCTGCACCCTCGCTGCCTCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCC
CGGCGGAGGAGCGGCCGCGGTGATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGA
GAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCAC
ACCAACACCGGCTTTCCCAGCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTT
CTTGATTGAGTTTGACAGACTCTGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTC
CGAGACAGCAGCCACACCAATGGCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATC
TGCCCTCTCATTGCCCACTCAGGAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGG
CACTCCACCCTTGCAGAACTGTGATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAA
GGAGAAGGACGTGGCCAGACAGGGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGA
GTGTCAGCAGCTCATTATAAAATACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAA
AGCAAAGGAAAGCTCACTGATGCACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTC
TGCTCTGCTGCGTATTCAGCCCAAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCT
GCTAAGCGTCGCAGATTTCAGGACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGA
TAAGACGCTGTCTTCAAAAATCTCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAG

>In-frame_ENST00000449116_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=67_stop in transcript=1227
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------
>In-frame_ENST00000357171_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1315nt_BP=348nt
TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG
ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA
AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC
CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC
TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG
GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG
GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT
GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG
GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA
TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG
CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC
AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG
ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC
TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT

>In-frame_ENST00000357171_ENST00000396231_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=45_stop in transcript=1205
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------
>In-frame_ENST00000357171_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(transcript)=1315nt_BP=348nt
TCCTTTCCTCCATGCTGCCTGGATCTGGCGAGCTGGGGTGATTAATTGGCTATGATGATGAACGTCCCCGGCGGAGGAGCGGCCGCGGTG
ATGATGACGGGCTACAATAATGGTCGCTGTCCCCGGAATTCTCTCTACAGTGACTGCATTATTGAGGAGAAGACGGTGGTCCTGCAGAAA
AAAGACAATGAGGGCTTTGGATTCGTGCTTCGAGGGGCCAAAGCTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCAGCC
CTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGGACCGGGGACTTCTTGATTGAGTTTGACAGACTC
TGGAACGAGATGCCAGTCAATGCCAAGGGGAGGCTGAAATACCCGGACTTCCTGAGCAGGTTCAGTTCCGAGACAGCAGCCACACCAATG
GCCACTGGTGACTCGGCCGTGGCCCAGAGAGGGAGCAGTGTCCCTGACGTCTCGGAAGGCACCAGATCTGCCCTCTCATTGCCCACTCAG
GAGCTGAGACCAGGGTCAAAGTCGCAGAGCCACCCCTGTACTCCAGCGAGCACCACCGTGATCCCGGGCACTCCACCCTTGCAGAACTGT
GATCCCATAGAGAGCAGGCTCCGGAAGAGAATCCAGGGCTGCTGGCGCCAGCTCCTGAAAGAATGCAAGGAGAAGGACGTGGCCAGACAG
GGGGACATCAACGCCTCCGATTTCCTGGCTCTTGTGGAGAAATTCAACCTGGACATAAGCAAAGAGGAGTGTCAGCAGCTCATTATAAAA
TACGACTTAAAGAGCAACGGGAAATTTGCATACTGTGACTTCATTCAGAGCTGTGTCCTCCTGCTAAAAGCAAAGGAAAGCTCACTGATG
CACAGGATGAAGATCCAGAATGCACACAAGATGAAAGAAGCCGGCGCGGAGACGCCATCTTTTTACTCTGCTCTGCTGCGTATTCAGCCC
AAAATTGTGCACTGCTGGAGGCCAATGCGGCGCACGTTCAAAAGCTATGATGAGGCTGGAACAGGGCTGCTAAGCGTCGCAGATTTCAGG
ACGGTCCTGAGACAGTACAGCATCAACCTCTCTGAGGAAGAGTTCTTCCATATTCTGGAGTATTACGATAAGACGCTGTCTTCAAAAATC
TCCTACAACGACTTCCTCCGGGCATTCCTCCAGTAGACACCCCTGCTGTGTGCCCAGCGGGACGACAGCCACAGGGCCTGTTTCAAGGCT

>In-frame_ENST00000357171_ENST00000262726_TCGA-86-8673-01A_SHANK2_chr11_70505933_-_EFCAB6_chr22_43936237_length(amino acids)=386AA_start in transcript=45_stop in transcript=1205
MAMMMNVPGGGAAAVMMTGYNNGRCPRNSLYSDCIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQ
AGLRTGDFLIEFDRLWNEMPVNAKGRLKYPDFLSRFSSETAATPMATGDSAVAQRGSSVPDVSEGTRSALSLPTQELRPGSKSQSHPCTP
ASTTVIPGTPPLQNCDPIESRLRKRIQGCWRQLLKECKEKDVARQGDINASDFLALVEKFNLDISKEECQQLIIKYDLKSNGKFAYCDFI
QSCVLLLKAKESSLMHRMKIQNAHKMKEAGAETPSFYSALLRIQPKIVHCWRPMRRTFKSYDEAGTGLLSVADFRTVLRQYSINLSEEEF

--------------------------------------------------------------

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Fusion Gene PPI Analysis 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


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321407_15011216.01502.0AR
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301407_15011064.01350.0AR
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000026272626321303_15011216.01502.0PARK7
TgeneEFCAB6chr11:70505933chr22:43936237ENST0000039623124301303_15011064.01350.0PARK7


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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Related Drugs for SHANK2-EFCAB6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SHANK2-EFCAB6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHANK2C0004352Autistic Disorder2CTD_human
HgeneSHANK2C0005586Bipolar Disorder1CTD_human
HgeneSHANK2C0005587Depression, Bipolar1CTD_human
HgeneSHANK2C0020796Profound Mental Retardation1CTD_human
HgeneSHANK2C0024713Manic Disorder1CTD_human
HgeneSHANK2C0025363Mental Retardation, Psychosocial1CTD_human
HgeneSHANK2C0338831Manic1CTD_human
HgeneSHANK2C0917816Mental deficiency1CTD_human
HgeneSHANK2C3150693AUTISM, SUSCEPTIBILITY TO, 171GENOMICS_ENGLAND
HgeneSHANK2C3714756Intellectual Disability1CTD_human