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Fusion gene ID: 38293

FusionGeneSummary for TMCC1_ANKHD1

Fusion gene summary

Fusion gene information	Fusion gene name: TMCC1_ANKHD1
	Fusion gene ID: 38293
		Hgene	Tgene
	Gene symbol	TMCC1	ANKHD1
	Gene ID	23023	54882
	Gene name	transmembrane and coiled-coil domain family 1	ankyrin repeat and KH domain containing 1
	Synonyms	-	MASK\|MASK1\|PP2500\|VBARP
	Cytomap	3q22.1	5q31.3
	Type of gene	protein-coding	protein-coding
	Description	transmembrane and coiled-coil domains protein 1	ankyrin repeat and KH domain-containing protein 1HIV-1 Vpr-binding ankyrin repeat proteinmultiple ankyrin repeats, single KH-domain homolog
	Modification date	20180523	20180523
	UniProtAcc	O94876	Q8IWZ3
	Ensembl transtripts involved in fusion gene	ENST00000432054, ENST00000393238, ENST00000426664, ENST00000329333, ENST00000515024,	ENST00000360839, ENST00000297183, ENST00000394723, ENST00000394722, ENST00000462121, ENST00000544120,
Fusion gene scores	* DoF score	8 X 8 X 3=192	8 X 11 X 3=264
	# samples	10	11
	** MAII score	log2(10/192*10)=-0.941106310946431 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/264*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: TMCC1 [Title/Abstract] AND ANKHD1 [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

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			U58663	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-

* 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	ENST00000432054	ENST00000360839	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000432054	ENST00000297183	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000432054	ENST00000394723	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000432054	ENST00000394722	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000432054	ENST00000462121	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000432054	ENST00000544120	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000360839	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000297183	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000394723	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000394722	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000462121	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000393238	ENST00000544120	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000360839	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000297183	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000394723	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000394722	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000462121	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000426664	ENST00000544120	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000360839	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000297183	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000394723	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000394722	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000462121	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000329333	ENST00000544120	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000360839	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000297183	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000394723	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000394722	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000462121	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-
intron-intron	ENST00000515024	ENST00000544120	TMCC1	chr3	129495192	+	ANKHD1	chr5	139802044	-

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FusionProtFeatures for TMCC1_ANKHD1

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

Hgene	Tgene
TMCC1 O94876	ANKHD1 Q8IWZ3

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Fusion gene ID: 38293

FusionGeneSummary for TMCC1_ANKHD1

FusionProtFeatures for TMCC1_ANKHD1