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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:ORAOV1-SHANK2 (FusionGDB2 ID:61272)

Fusion Gene Summary for ORAOV1-SHANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: ORAOV1-SHANK2
Fusion gene ID: 61272
HgeneTgene
Gene symbol

ORAOV1

SHANK2

Gene ID

220064

22941

Gene nameLTO1 maturation factor of ABCE1SH3 and multiple ankyrin repeat domains 2
SynonymsCIAB1|ORAOV1|TAOS1AUTS17|CORTBP1|CTTNBP1|ProSAP1|SHANK|SPANK-3
Cytomap

11q13.3

11q13.3-q13.4

Type of geneprotein-codingprotein-coding
Descriptionprotein LTO1 homologLTO1, ABCE1 maturation factororal cancer overexpressed 1oral cancer overexpressed protein 1-Aoral cancer-overexpressed protein 1tumor-amplified and overexpressed sequence 1SH3 and multiple ankyrin repeat domains protein 2GKAP/SAPAP interacting proteincortactin SH3 domain-binding proteincortactin-binding protein 1proline-rich synapse associated protein 1
Modification date2020031320200326
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000542515, ENST00000279147, 
ENST00000536870, ENST00000535657, 
ENST00000539414, ENST00000542341, 
ENST00000449833, ENST00000409161, 
ENST00000423696, ENST00000338508, 
ENST00000409530, ENST00000449116, 
ENST00000357171, ENST00000468619, 
Fusion gene scores* DoF score9 X 7 X 7=44136 X 29 X 10=10440
# samples 947
** MAII scorelog2(9/441*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(47/10440*10)=-4.47331714489225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ORAOV1 [Title/Abstract] AND SHANK2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointORAOV1(69489958)-SHANK2(70338570), # samples:1
Anticipated loss of major functional domain due to fusion event.ORAOV1-SHANK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ORAOV1-SHANK2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneORAOV1

GO:0106035

protein maturation by [4Fe-4S] cluster transfer

26182403


check buttonFusion gene breakpoints across ORAOV1 (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 SHANK2 (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
ChimerDB4BLCATCGA-XF-AAMQ-01AORAOV1chr11

69489958

-SHANK2chr11

70338570

-


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Fusion Gene ORF analysis for ORAOV1-SHANK2

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
intron-3CDSENST00000542515ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-3CDSENST00000542515ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
intron-intronENST00000542515ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000279147ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000279147ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000279147ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000536870ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000536870ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000536870ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000535657ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000535657ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000535657ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000539414ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000539414ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000539414ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000449833ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000409161ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000423696ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000338508ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000409530ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
Frame-shiftENST00000542341ENST00000449116ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
In-frameENST00000542341ENST00000357171ORAOV1chr11

69489958

-SHANK2chr11

70338570

-
5CDS-intronENST00000542341ENST00000468619ORAOV1chr11

69489958

-SHANK2chr11

70338570

-

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)
ENST00000279147ORAOV1chr1169489958-ENST00000357171SHANK2chr1170338570-46115836610686
ENST00000536870ORAOV1chr1169489958-ENST00000357171SHANK2chr1170338570-4371343428286
ENST00000535657ORAOV1chr1169489958-ENST00000357171SHANK2chr1170338570-4351323408086
ENST00000539414ORAOV1chr1169489958-ENST00000357171SHANK2chr1170338570-4361333418186
ENST00000542341ORAOV1chr1169489958-ENST00000357171SHANK2chr1170338570-53022743517586

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
ENST00000279147ENST00000357171ORAOV1chr1169489958-SHANK2chr1170338570-0.182156130.81784385
ENST00000536870ENST00000357171ORAOV1chr1169489958-SHANK2chr1170338570-0.205371560.79462844
ENST00000535657ENST00000357171ORAOV1chr1169489958-SHANK2chr1170338570-0.208650380.7913496
ENST00000539414ENST00000357171ORAOV1chr1169489958-SHANK2chr1170338570-0.218388770.7816112
ENST00000542341ENST00000357171ORAOV1chr1169489958-SHANK2chr1170338570-0.258641960.74135804

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Fusion Genomic Features for ORAOV1-SHANK2


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 ORAOV1-SHANK2


check button Go to

FGviewer for the breakpoints of chr11:69489958-chr11:70338570

.
- 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
..
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: 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.

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
TgeneSHANK2chr11:69489958chr11:70338570ENST000004236961016509_535390.33333333333331471.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:69489958chr11:70338570ENST00000449833410509_535174.333333333333341255.0Compositional biasNote=Pro-rich
TgeneSHANK2chr11:69489958chr11:70338570ENST0000042369610161407_1470390.33333333333331471.0DomainSAM
TgeneSHANK2chr11:69489958chr11:70338570ENST000004498334101407_1470174.333333333333341255.0DomainSAM
TgeneSHANK2chr11:69489958chr11:70338570ENST00000449833410247_341174.333333333333341255.0DomainPDZ
TgeneSHANK2chr11:69489958chr11:70338570ENST000004236961016948_954390.33333333333331471.0MotifSH3-binding
TgeneSHANK2chr11:69489958chr11:70338570ENST00000449833410948_954174.333333333333341255.0MotifSH3-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSHANK2chr11:69489958chr11:70338570ENST000004236961016147_206390.33333333333331471.0DomainSH3
TgeneSHANK2chr11:69489958chr11:70338570ENST000004236961016247_341390.33333333333331471.0DomainPDZ
TgeneSHANK2chr11:69489958chr11:70338570ENST00000449833410147_206174.333333333333341255.0DomainSH3


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Fusion Gene Sequence for ORAOV1-SHANK2


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_ENST00000279147_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(transcript)=461nt_BP=158nt
GGGTCTCGTCTCCTCCCAAGCGGAGCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAG
GGCGGGCTGCTTGCCGCTATGGCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCC
CGGCCTCCAAGCCCTCCCGCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCC
CGGCGGGCTCAGACATGAACTCTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTC
TGGGCATCCCTCGAGGTACGATGCGAAGGCAGAAATCAATAGGTAAGAAGTGTGGCACTCCCCCACAGAAGTTGCCCCTGGGCTTTCAAA

>In-frame_ENST00000279147_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(amino acids)=86AA_start in transcript=366_stop in transcript=106

--------------------------------------------------------------
>In-frame_ENST00000536870_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(transcript)=437nt_BP=134nt
GCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCT
GGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTG
CTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTG
TGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGC

>In-frame_ENST00000536870_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(amino acids)=86AA_start in transcript=342_stop in transcript=82

--------------------------------------------------------------
>In-frame_ENST00000535657_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(transcript)=435nt_BP=132nt
ATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCTGG
CAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTGCT
GAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTGTG
TACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGCGA

>In-frame_ENST00000535657_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(amino acids)=86AA_start in transcript=340_stop in transcript=80

--------------------------------------------------------------
>In-frame_ENST00000539414_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(transcript)=436nt_BP=133nt
CATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATGGCTG
GCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCGCTGC
TGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACTCTGT
GTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGATGCG

>In-frame_ENST00000539414_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(amino acids)=86AA_start in transcript=341_stop in transcript=81

--------------------------------------------------------------
>In-frame_ENST00000542341_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(transcript)=530nt_BP=227nt
ACAGGCTGCTTTGGGCCCTCCCGCGTGCCGTTCTTACCCGGCCTGCCCCGCGCCGCCGCTTCCGGAAGTGGGTCTCGTCTCCTCCCAAGC
GGAGCATTTGTGCCTGAAGCTGCCGGGTCTGCTACGGCACCGCGGGGCTGCAGAAACCCGGGGGCCAAGGGCGGGCTGCTTGCCGCTATG
GCTGGCAGTCAGGACATATTCGATGCCATCGTGATGGCGGATGAGAGGATAAACCCGAGGAGATAGTCCCGGCCTCCAAGCCCTCCCGCG
CTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGGCCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAACT
CTGTGTACGAACGCCAAGGAATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCTCGAGGTACGA

>In-frame_ENST00000542341_ENST00000357171_TCGA-XF-AAMQ-01A_ORAOV1_chr11_69489958_-_SHANK2_chr11_70338570_length(amino acids)=86AA_start in transcript=435_stop in transcript=175

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

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Fusion Gene PPI Analysis for ORAOV1-SHANK2


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


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 ORAOV1-SHANK2


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 ORAOV1-SHANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSHANK2C0004352Autistic Disorder2CTD_human
TgeneSHANK2C0005586Bipolar Disorder1CTD_human
TgeneSHANK2C0005587Depression, Bipolar1CTD_human
TgeneSHANK2C0020796Profound Mental Retardation1CTD_human
TgeneSHANK2C0024713Manic Disorder1CTD_human
TgeneSHANK2C0025363Mental Retardation, Psychosocial1CTD_human
TgeneSHANK2C0338831Manic1CTD_human
TgeneSHANK2C0917816Mental deficiency1CTD_human
TgeneSHANK2C3150693AUTISM, SUSCEPTIBILITY TO, 171GENOMICS_ENGLAND
TgeneSHANK2C3714756Intellectual Disability1CTD_human