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

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000259008.2	BRIP1-001	6048	1249aa	ENSP00000259008.2	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000577598.1	BRIP1-002	3969	994aa	ENSP00000464654.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KS24 J3QSE8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000584322.1	BRIP1-006	716	180aa	ENSP00000463272.1	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	ENSP00000462274.1	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	ENSP00000463827.1	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		-	-	-

EMBL-EBI User Survey 2024

Gene: BRIP1 ENSG00000136492

Summary

EMBL-EBI User Survey 2024

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Gene: BRIP1 ENSG00000136492

Summary