	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 33176

FusionGeneSummary for SEMA6A_ELOF1

Fusion gene summary

Fusion gene information	Fusion gene name: SEMA6A_ELOF1
	Fusion gene ID: 33176
		Hgene	Tgene
	Gene symbol	SEMA6A	ELOF1
	Gene ID	57556	84337
	Gene name	semaphorin 6A	elongation factor 1 homolog
	Synonyms	HT018\|SEMA\|SEMA6A1\|SEMAQ\|VIA	ELF1
	Cytomap	5q23.1	19p13.2
	Type of gene	protein-coding	protein-coding
	Description	semaphorin-6ASEMA6A-1sema VIasema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Asemaphorin 6A-1semaphorin VIA	transcription elongation factor 1 homologELF1 homolog, elongation factor 1elongation factor 1 homolog (ELF1, S. cerevisiae)
	Modification date	20180523	20180529
	UniProtAcc	Q9H2E6	P60002
	Ensembl transtripts involved in fusion gene	ENST00000343348, ENST00000257414, ENST00000510263, ENST00000513137, ENST00000282394, ENST00000503865, ENST00000503962,	ENST00000586683, ENST00000252445, ENST00000587806, ENST00000589171, ENST00000591674, ENST00000586120, ENST00000590700, ENST00000591912,
Fusion gene scores	* DoF score	6 X 6 X 2=72	7 X 3 X 5=105
	# samples	11	7
	** MAII score	log2(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	SEMA6A	GO:1903671	negative regulation of sprouting angiogenesis	22184411

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			AI652447	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
ChiTaRS3.1			AI650814	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000343348	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000343348	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000257414	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000257414	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000510263	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000510263	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000513137	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000513137	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000282394	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000282394	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000503865	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503865	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-intron	ENST00000503962	ENST00000586683	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000252445	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000587806	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000589171	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000591674	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000586120	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000590700	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+
intron-3UTR	ENST00000503962	ENST00000591912	SEMA6A	chr5	115781956	+	ELOF1	chr19	11664451	+

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FusionProtFeatures for SEMA6A_ELOF1

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for SEMA6A_ELOF1

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for SEMA6A_ELOF1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for SEMA6A_ELOF1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 33176

FusionGeneSummary for SEMA6A_ELOF1

FusionProtFeatures for SEMA6A_ELOF1

FusionGeneSequence for SEMA6A_ELOF1

FusionGenePPI for SEMA6A_ELOF1

RelatedDrugs for SEMA6A_ELOF1

RelatedDiseases for SEMA6A_ELOF1