Gene: BRIP1 ENSG00000136492

Description

BRCA1 interacting protein C-terminal helicase 1 [Source:HGNC Symbol;Acc:20473]

Gene Synonyms

BACH1, FANCJ, OF

Location

Chromosome 17: 59,758,627-59,940,882 reverse strand.

GRCh37:CM000679.1

About this gene

This gene has 6 transcripts (splice variants), 3 paralogues and is associated with 72 phenotypes.

Transcripts

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Transcript ID	Name	bp	Protein	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000259008.2	BRIP1-001	6048	1249aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11631	J3KS24 Q9BX63	NM_032043.2	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000577598.1	BRIP1-002	3969	994aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KS24 J3QSE8	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000584322.1	BRIP1-006	716	180aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000577913.1	BRIP1-003	466	69aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KS24	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000579028.1	BRIP1-005	790	84aa	Nonsense mediated decay		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000583837.1	BRIP1-004	449	No protein	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: BRIP1 ENSG00000136492

Summary