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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 33613

FusionGeneSummary for SH2D3A_GPM6A

check button Fusion gene summary
Fusion gene informationFusion gene name: SH2D3A_GPM6A
Fusion gene ID: 33613
HgeneTgene
Gene symbol

SH2D3A

GPM6A

Gene ID

10045

2823

Gene nameSH2 domain containing 3Aglycoprotein M6A
SynonymsNSP1GPM6|M6A
Cytomap

19p13.3

4q34.2

Type of geneprotein-codingprotein-coding
DescriptionSH2 domain-containing protein 3Anovel SH2-containing protein 1neuronal membrane glycoprotein M6-a
Modification date2018051920180523
UniProtAcc

Q9BRG2

P51674

Ensembl transtripts involved in fusion geneENST00000437152, ENST00000245908, 
ENST00000599563, 
ENST00000280187, 
ENST00000393658, ENST00000506894, 
ENST00000515090, ENST00000506219, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 2=32
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SH2D3A [Title/Abstract] AND GPM6A [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
TgeneGPM6A

GO:0001764

neuron migration

19298174

TgeneGPM6A

GO:0048863

stem cell differentiation

19298174


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
TCGARVHNSCTCGA-CQ-A4CI-01ASH2D3Achr19

6767398

-GPM6Achr4

176573138

-
* 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
5UTR-3CDSENST00000437152ENST00000280187SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000437152ENST00000393658SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000437152ENST00000506894SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000437152ENST00000515090SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-intronENST00000437152ENST00000506219SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000245908ENST00000280187SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000245908ENST00000393658SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000245908ENST00000506894SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-3CDSENST00000245908ENST00000515090SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
5UTR-intronENST00000245908ENST00000506219SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
intron-3CDSENST00000599563ENST00000280187SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
intron-3CDSENST00000599563ENST00000393658SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
intron-3CDSENST00000599563ENST00000506894SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
intron-3CDSENST00000599563ENST00000515090SH2D3Achr19

6767398

-GPM6Achr4

176573138

-
intron-intronENST00000599563ENST00000506219SH2D3Achr19

6767398

-GPM6Achr4

176573138

-

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FusionProtFeatures for SH2D3A_GPM6A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SH2D3A

Q9BRG2

GPM6A

P51674

May play a role in JNK activation. Involved in neuronal differentiation, includingdifferentiation and migration of neuronal stem cells. Plays a rolein neuronal plasticity and is involved in neurite and filopodiaoutgrowth, filopodia motility and probably synapse formation.GPM6A-induced filopodia formation involves mitogen-activatedprotein kinase (MAPK) and Src signaling pathways. May be involvedin neuronal NGF-dependent Ca(2+) influx. May be involved inregulation of endocytosis and intracellular trafficking of G-protein-coupled receptors (GPCRs); enhances internalization andrecycling of mu-type opioid receptor.{ECO:0000269|PubMed:19298174}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SH2D3A_GPM6A


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SH2D3A_GPM6A


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
SH2D3ASFN, BCAR1, EGFR, MAPK8, NXF1, ERBB2, KRAS, CENPBGPM6APAM16, ZDHHC17, CCDC126, MGAT5, RMDN3, SLC35B2, AGPAT3, FITM2, ERMP1, HAX1, IKBIP, RFT1, UQCR10, YIPF3, FAM189B, SCAMP2, PXMP2, GP1BB, VKORC1L1, ZDHHC18, ARMC1, NUFIP1, DNAAF2, TSPAN17, EDA, GPR114, TSPAN3, HTR3A, VNN2, P2RY1, FKRP, TRIM25


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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RelatedDrugs for SH2D3A_GPM6A


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 SH2D3A_GPM6A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGPM6AC0036341Schizophrenia1PSYGENET