Gene: ERCC6 ENSG00000225830

Description

excision repair cross-complementing rodent repair deficiency, complementation group 6 [Source:HGNC Symbol;Acc:3438]

Gene Synonyms

ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1

Location

GRCh37:CM000672.1

About this gene

This gene has 6 transcripts (splice variants), 2 paralogues and is associated with 14 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000355832.5	ERCC6-001	8008	1493aa	ENSP00000348089.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7229	D6R9X7 F5H493 Q03468	NM_000124.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000542458.1	ERCC6-201	2932	863aa	ENSP00000445134.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F5H493	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000462247.1	ERCC6-005	660	179aa	ENSP00000422827.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R9X7	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000465653.1	ERCC6-002	733	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000475116.1	ERCC6-003	424	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479652.1	ERCC6-004	418	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Summary