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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: 33157

FusionGeneSummary for SEMA4C_AFF3

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA4C_AFF3
Fusion gene ID: 33157
HgeneTgene
Gene symbol

SEMA4C

AFF3

Gene ID

54910

3899

Gene namesemaphorin 4CAF4/FMR2 family member 3
SynonymsM-SEMA-F|SEMACL1|SEMAF|SEMAILAF4|MLLT2-like
Cytomap

2q11.2

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-4CM-Sema Fsema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4CAF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4
Modification date2018052320180523
UniProtAcc

Q9C0C4

P51826

Ensembl transtripts involved in fusion geneENST00000305476, ENST00000409236, 
ENST00000356421, ENST00000317233, 
ENST00000409579, ENST00000483600, 
Fusion gene scores* DoF score4 X 4 X 4=647 X 7 X 4=196
# samples 67
** MAII scorelog2(6/64*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEMA4C [Title/Abstract] AND AFF3 [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
HgeneSEMA4C

GO:0032874

positive regulation of stress-activated MAPK cascade

17498836

HgeneSEMA4C

GO:0042692

muscle cell differentiation

17498836


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
TCGALDBRCATCGA-E9-A1NA-01ASEMA4Cchr2

97527316

-AFF3chr2

100266128

-
* 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
Frame-shitENST00000305476ENST00000409236SEMA4Cchr2

97527316

-AFF3chr2

100266128

-
Frame-shitENST00000305476ENST00000356421SEMA4Cchr2

97527316

-AFF3chr2

100266128

-
Frame-shitENST00000305476ENST00000317233SEMA4Cchr2

97527316

-AFF3chr2

100266128

-
Frame-shitENST00000305476ENST00000409579SEMA4Cchr2

97527316

-AFF3chr2

100266128

-
5CDS-intronENST00000305476ENST00000483600SEMA4Cchr2

97527316

-AFF3chr2

100266128

-

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FusionProtFeatures for SEMA4C_AFF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEMA4C

Q9C0C4

AFF3

P51826

Cell surface receptor for PLXNB2 that plays an importantrole in cell-cell signaling. PLXNB2 binding promotes downstreamactivation of RHOA and phosphorylation of ERBB2 at 'Tyr-1248'.Required for normal brain development, axon guidance and cellmigration (By similarity). Probable signaling receptor which mayplay a role in myogenic differentiation through activation of thestress-activated MAPK cascade. {ECO:0000250,ECO:0000269|PubMed:17498836}.

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 SEMA4C_AFF3


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 SEMA4C_AFF3


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
SEMA4CDLG4, DLG3, DLG2, FBXO6, KRT31, PNMA1, RCHY1, KRT40, NOTCH2NL, ATP1B3, SPACA1, MCOLN3, TMEM30A, ATP1B4, VSIG4, TNF, HTR3C, TMEM17, TMEM30B, TNFSF8, IL13RA2, TRIM25AFF3MLLT3, CDK9, PIP4K2A


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 SEMA4C_AFF3


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 SEMA4C_AFF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneAFF3C0003873Rheumatoid Arthritis2CTD_human
TgeneAFF3C0236969Substance-Related Disorders1CTD_human