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Fusion gene ID: 27810

FusionGeneSummary for PMS1_HIBCH

Fusion gene summary

Fusion gene information	Fusion gene name: PMS1_HIBCH
	Fusion gene ID: 27810
		Hgene	Tgene
	Gene symbol	PMS1	HIBCH
	Gene ID	5378	26275
	Gene name	PMS1 homolog 1, mismatch repair system component	3-hydroxyisobutyryl-CoA hydrolase
	Synonyms	HNPCC3\|MLH2\|PMSL1\|hPMS1	HIBYLCOAH
	Cytomap	2q32.2	2q32.2
	Type of gene	protein-coding	protein-coding
	Description	PMS1 protein homolog 1DNA mismatch repair protein PMS1PMS1 postmeiotic segregation increased 1human homolog of yeast mutLmismatch repair gene PMSL1rhabdomyosarcoma antigen MU-RMS-40.10Brhabdomyosarcoma antigen MU-RMS-40.10E	3-hydroxyisobutyryl-CoA hydrolase, mitochondrial3-hydroxyisobutyryl-Coenzyme A hydrolaseHIB-CoA hydrolaseHIBYL-CoA-Htesticular tissue protein Li 86
	Modification date	20180523	20180523
	UniProtAcc	P54277	Q6NVY1
	Ensembl transtripts involved in fusion gene	ENST00000441310, ENST00000418224, ENST00000409823, ENST00000421722, ENST00000447232, ENST00000432292, ENST00000409985, ENST00000374826,	ENST00000392332, ENST00000359678, ENST00000410045, ENST00000486981,
Fusion gene scores	* DoF score	3 X 3 X 3=27	3 X 2 X 3=18
	# samples	4	3
	** MAII score	log2(4/27*10)=0.567040592723894 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0
Context	PubMed: PMS1 [Title/Abstract] AND HIBCH [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Transcription factor involved fusion gene, inframe and retained DNA-binding domain.

* 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
TCGA	LD	HNSC	TCGA-CV-7418-01A	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-

* 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
In-frame	ENST00000441310	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000441310	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000441310	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
5CDS-intron	ENST00000441310	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000418224	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000418224	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000418224	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
5CDS-intron	ENST00000418224	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000409823	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000409823	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000409823	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
5CDS-intron	ENST00000409823	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000421722	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000421722	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000421722	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-intron	ENST00000421722	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000447232	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000447232	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000447232	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
5CDS-intron	ENST00000447232	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000432292	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000432292	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
In-frame	ENST00000432292	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
5CDS-intron	ENST00000432292	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000409985	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000409985	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000409985	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-intron	ENST00000409985	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000374826	ENST00000392332	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000374826	ENST00000359678	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-3CDS	ENST00000374826	ENST00000410045	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-
intron-intron	ENST00000374826	ENST00000486981	PMS1	chr2	190738382	+	HIBCH	chr2	191110938	-

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FusionProtFeatures for PMS1_HIBCH

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

Hgene	Tgene
PMS1 P54277	HIBCH Q6NVY1

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Fusion gene ID: 27810

FusionGeneSummary for PMS1_HIBCH

FusionProtFeatures for PMS1_HIBCH