Gene: ERCC8 ENSG00000049167

Description

excision repair cross-complementing rodent repair deficiency, complementation group 8 [Source:HGNC Symbol;Acc:3439]

Gene Synonyms

CKN1, CSA, UVSS2

Location

Chromosome 5: 60,169,658-60,240,900 reverse strand.

GRCh37:CM000667.1

About this gene

This gene has 10 transcripts (splice variants) and is associated with 8 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000426742.2	ERCC8-201	2236	338aa	ENSP00000400110.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B3KPW7 C9JNT2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000265038.5	ERCC8-001	2017	396aa	ENSP00000265038.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS3978	B3KPW7 C9JNT2 G3XAG7 Q13216	NM_000082.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000543101.1	ERCC8-202	1554	243aa	ENSP00000441732.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DGZ9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000439176.1	ERCC8-005	684	134aa	ENSP00000408344.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JNT2	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000381118.3	ERCC8-003	2236	57aa	ENSP00000370510.3	Nonsense mediated decay		G3XAG7	-	-
ENST00000462279.1	ERCC8-004	3424	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000495985.1	ERCC8-008	582	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000484330.1	ERCC8-007	471	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000497892.1	ERCC8-002	881	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000477893.1	ERCC8-006	752	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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Gene: ERCC8 ENSG00000049167

Summary