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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: 33176

FusionGeneSummary for SEMA6A_ELOF1

check button Fusion gene summary
Fusion gene informationFusion gene name: SEMA6A_ELOF1
Fusion gene ID: 33176
HgeneTgene
Gene symbol

SEMA6A

ELOF1

Gene ID

57556

84337

Gene namesemaphorin 6Aelongation factor 1 homolog
SynonymsHT018|SEMA|SEMA6A1|SEMAQ|VIAELF1
Cytomap

5q23.1

19p13.2

Type of geneprotein-codingprotein-coding
Descriptionsemaphorin-6ASEMA6A-1sema VIasema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Asemaphorin 6A-1semaphorin VIAtranscription elongation factor 1 homologELF1 homolog, elongation factor 1elongation factor 1 homolog (ELF1, S. cerevisiae)
Modification date2018052320180529
UniProtAcc

Q9H2E6

P60002

Ensembl transtripts involved in fusion geneENST00000343348, ENST00000257414, 
ENST00000510263, ENST00000513137, 
ENST00000282394, ENST00000503865, 
ENST00000503962, 
ENST00000586683, 
ENST00000252445, ENST00000587806, 
ENST00000589171, ENST00000591674, 
ENST00000586120, ENST00000590700, 
ENST00000591912, 
Fusion gene scores* DoF score6 X 6 X 2=727 X 3 X 5=105
# samples 117
** MAII scorelog2(11/72*10)=0.611434712082347
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEMA6A [Title/Abstract] AND ELOF1 [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
ChiTaRS3.1AI652447SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
ChiTaRS3.1AI650814SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
* 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-intronENST00000343348ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000343348ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000257414ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000257414ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000510263ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000510263ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000513137ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000513137ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000282394ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000282394ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000503865ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503865ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-intronENST00000503962ENST00000586683SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000252445SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000587806SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000589171SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000591674SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000586120SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000590700SEMA6Achr5

115781956

+ELOF1chr19

11664451

+
intron-3UTRENST00000503962ENST00000591912SEMA6Achr5

115781956

+ELOF1chr19

11664451

+

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FusionProtFeatures for SEMA6A_ELOF1


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

Q9H2E6

ELOF1

P60002

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}. Transcription elongation factor implicated in themaintenance of proper chromatin structure in actively transcribedregions. {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_ELOF1


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_ELOF1


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_ELOF1


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_ELOF1


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