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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: 33169

FusionGeneSummary for SEMA5A_SRRM4

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA5A_SRRM4
Fusion gene ID: 33169
HgeneTgene
Gene symbol

SEMA5A

SRRM4

Gene ID

9037

84530

Gene namesemaphorin 5Aserine/arginine repetitive matrix 4
SynonymsSEMAF|semFKIAA1853|MU-MB-2.76|nSR100
Cytomap

5p15.31

12q24.23

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-5Asema Fsema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5Asemaphorin Fserine/arginine repetitive matrix protein 4medulloblastoma antigen MU-MB-2.76neural-specific SR-related protein of 100 kDaneural-specific serine/arginine repetitive splicing factor of 100 kDa
Modification date2018052320180523
UniProtAcc

Q13591

A7MD48

Ensembl transtripts involved in fusion geneENST00000382496, ENST00000267260, 
ENST00000537597, 
Fusion gene scores* DoF score8 X 6 X 4=1924 X 5 X 4=80
# samples 84
** MAII scorelog2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEMA5A [Title/Abstract] AND SRRM4 [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
ChiTaRS3.1BF961792SEMA5Achr5

9455913

-SRRM4chr12

119457057

-
* 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
intron-intronENST00000382496ENST00000267260SEMA5Achr5

9455913

-SRRM4chr12

119457057

-
intron-intronENST00000382496ENST00000537597SEMA5Achr5

9455913

-SRRM4chr12

119457057

-

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FusionProtFeatures for SEMA5A_SRRM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEMA5A

Q13591

SRRM4

A7MD48

Bifunctional axonal guidance cue regulated by sulfatedproteoglycans; attractive effects result from interactions withheparan sulfate proteoglycans (HSPGs), while the inhibitoryeffects depend on interactions with chondroitin sulfateproteoglycans (CSPGs) (By similarity). Ligand for receptor PLXNB3.In glioma cells, SEMA5A stimulation of PLXNB3 results in thedisassembly of F-actin stress fibers, disruption of focaladhesions and cellular collapse as well as inhibition of cellmigration and invasion through ARHGDIA-mediated inactivation ofRAC1. May promote angiogenesis by increasing endothelial cellproliferation and migration and inhibiting apoptosis.{ECO:0000250, ECO:0000269|PubMed:15218527,ECO:0000269|PubMed:19850054, ECO:0000269|PubMed:20696765,ECO:0000269|PubMed:21706053}. Splicing factor specifically required for neural celldifferentiation. Acts in conjunction with nPTB/PTBP2 by bindingdirectly to its regulated target transcripts and promotes neural-specific exon inclusion in many genes that function in neural celldifferentiation. Required to promote the inclusion of neural-specific exon 10 in nPTB/PTBP2, leading to increased expression ofneural-specific nPTB/PTBP2. Also promotes the inclusion of exon 16in DAAM1 in neuron extracts (By similarity). {ECO:0000250}.

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 SEMA5A_SRRM4


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 SEMA5A_SRRM4


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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RelatedDrugs for SEMA5A_SRRM4


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 SEMA5A_SRRM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEMA5AC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneSEMA5AC0004352Autistic Disorder1CTD_human
TgeneSRRM4C0042594Vestibular Diseases1CTD_human
TgeneSRRM4C0260662Hearing problem1CTD_human