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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: 33181

FusionGeneSummary for SEMA6D_EXD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA6D_EXD1
Fusion gene ID: 33181
HgeneTgene
Gene symbol

SEMA6D

EXD1

Gene ID

80031

161829

Gene namesemaphorin 6Dexonuclease 3'-5' domain containing 1
Synonyms-EXDL1
Cytomap

15q21.1

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-6Dsema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6DpiRNA biogenesis protein EXD1exonuclease 3'-5' domain-containing protein 1exonuclease 3'-5' domain-like-containing protein 1inactive exonuclease EXD1
Modification date2018052320180519
UniProtAcc

Q8NFY4

Q8NHP7

Ensembl transtripts involved in fusion geneENST00000558014, ENST00000537942, 
ENST00000536845, ENST00000558816, 
ENST00000389425, ENST00000355997, 
ENST00000389433, ENST00000389432, 
ENST00000358066, ENST00000389428, 
ENST00000316364, ENST00000354744, 
ENST00000314992, ENST00000458580, 
ENST00000559743, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: SEMA6D [Title/Abstract] AND EXD1 [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
TCGARVLGGTCGA-DU-A7TC-01ASEMA6Dchr15

48009889

+EXD1chr15

41488053

-
* 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-3CDSENST00000558014ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000558014ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000558014ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000537942ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000537942ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000537942ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-3CDSENST00000536845ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-3CDSENST00000536845ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-intronENST00000536845ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-3CDSENST00000558816ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-3CDSENST00000558816ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
5UTR-intronENST00000558816ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389425ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389425ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000389425ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000355997ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000355997ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000355997ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389433ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389433ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000389433ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389432ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389432ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000389432ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000358066ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000358066ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000358066ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389428ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000389428ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000389428ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000316364ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000316364ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000316364ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000354744ENST00000314992SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-3CDSENST00000354744ENST00000458580SEMA6Dchr15

48009889

+EXD1chr15

41488053

-
intron-intronENST00000354744ENST00000559743SEMA6Dchr15

48009889

+EXD1chr15

41488053

-

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FusionProtFeatures for SEMA6D_EXD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEMA6D

Q8NFY4

EXD1

Q8NHP7

RNA-binding component of the PET complex, a multiproteincomplex required for the processing of piRNAs duringspermatogenesis. The piRNA metabolic process mediates therepression of transposable elements during meiosis by formingcomplexes composed of piRNAs and Piwi proteins and governs themethylation and subsequent repression of transposable elements,preventing their mobilization, which is essential for the germlineintegrity (By similarity). The PET complex is required during thesecondary piRNAs metabolic process for the PIWIL2 slicing-triggered loading of PIWIL4 piRNAs. In the PET complex, EXD1probably acts as an RNA adapter. EXD1 is an inactive exonuclease(By similarity). {ECO:0000250|UniProtKB:H9IUR0,ECO:0000250|UniProtKB:Q8CDF7}.

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 SEMA6D_EXD1


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 SEMA6D_EXD1


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
SEMA6DTPM2, TRIM25EXD1EML2


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 SEMA6D_EXD1


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 SEMA6D_EXD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEMA6DC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSEMA6DC0236969Substance-Related Disorders1CTD_human