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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: 33173

FusionGeneSummary for SEMA6A_DLG5

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA6A_DLG5
Fusion gene ID: 33173
HgeneTgene
Gene symbol

SEMA6A

DLG5

Gene ID

57556

9231

Gene namesemaphorin 6Adiscs large MAGUK scaffold protein 5
SynonymsHT018|SEMA|SEMA6A1|SEMAQ|VIALP-DLG|P-DLG5|PDLG
Cytomap

5q23.1

10q22.3

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-6ASEMA6A-1sema VIasema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Asemaphorin 6A-1semaphorin VIAdisks large homolog 5discs large protein LP-DLGdiscs large protein P-dlgdiscs, large homolog 5large type of P-DLGplacenta and prostate DLG
Modification date2018052320180519
UniProtAcc

Q9H2E6

Q8TDM6

Ensembl transtripts involved in fusion geneENST00000343348, ENST00000257414, 
ENST00000510263, ENST00000513137, 
ENST00000282394, ENST00000503865, 
ENST00000503962, 
ENST00000372391, 
ENST00000372388, ENST00000459739, 
Fusion gene scores* DoF score6 X 6 X 2=724 X 4 X 2=32
# samples 118
** MAII scorelog2(11/72*10)=0.611434712082347
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/32*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SEMA6A [Title/Abstract] AND DLG5 [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
HgeneSEMA6A

GO:1903671

negative regulation of sprouting angiogenesis

22184411


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
ChiTaRS3.1BF990536SEMA6Achr5

115781980

-DLG5chr10

79572329

+
ChiTaRS3.1BF990530SEMA6Achr5

115781980

-DLG5chr10

79572329

+
ChiTaRS3.1BF990533SEMA6Achr5

115781980

-DLG5chr10

79572329

+
ChiTaRS3.1BF990526SEMA6Achr5

115781980

-DLG5chr10

79572329

+
ChiTaRS3.1BF990529SEMA6Achr5

115781980

-DLG5chr10

79572329

+
* 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-intronENST00000343348ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000343348ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000343348ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000257414ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000257414ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000257414ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000510263ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000510263ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000510263ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000513137ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000513137ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000513137ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000282394ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000282394ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000282394ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503865ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503865ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503865ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503962ENST00000372391SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503962ENST00000372388SEMA6Achr5

115781980

-DLG5chr10

79572329

+
intron-intronENST00000503962ENST00000459739SEMA6Achr5

115781980

-DLG5chr10

79572329

+

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FusionProtFeatures for SEMA6A_DLG5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEMA6A

Q9H2E6

DLG5

Q8TDM6

Cell surface receptor for PLXNA2 that plays an importantrole in cell-cell signaling. Required for normal granule cellmigration in the developing cerebellum. Promotes reorganization ofthe actin cytoskeleton and plays an important role in axonguidance in the developing central nervous system. Can act asrepulsive axon guidance cue. Has repulsive action towardsmigrating granular neurons. May play a role in channelingsympathetic axons into the sympathetic chains and controlling thetemporal sequence of sympathetic target innervation (Bysimilarity). {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 SEMA6A_DLG5


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 SEMA6A_DLG5


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 SEMA6A_DLG5


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 SEMA6A_DLG5


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