Gene: CHD7 ENSG00000171316

Description

chromodomain helicase DNA binding protein 7 [Source:HGNC Symbol;Acc:20626]

Gene Synonyms

FLJ20357, FLJ20361, HH5, IS3, KAL5, KIAA1416

Location

Chromosome 8: 61,591,337-61,779,465 forward strand.

GRCh37:CM000670.1

About this gene

This gene has 11 transcripts (splice variants), 8 paralogues and is associated with 8 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000423902.2	CHD7-001	10446	2997aa	ENSP00000392028.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS47865	E9PP20 H0YDC1 Q9P2D1	NM_017780.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000525508.1	CHD7-003	4777	1138aa	ENSP00000436027.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PP20 H0YDC1 Q9P2D1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000524602.1	CHD7-002	3456	948aa	ENSP00000437061.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PP20 H0YDC1 Q9P2D1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000526846.1	CHD7-004	500	32aa	ENSP00000436492.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		E9PP20	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000527825.1	CHD7-012	434	19aa	ENSP00000432627.1	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000527900.1	CHD7-005	398	39aa	ENSP00000433336.1	Nonsense mediated decay		H0YDC1	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000529472.1	CHD7-007	788	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000527921.1	CHD7-006	527	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000532149.1	CHD7-009	616	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000528280.1	CHD7-010	566	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000531695.1	CHD7-008	507	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Recent locations

Gene: CHD7 ENSG00000171316

Summary