Description
bestrophin 1 [Source:HGNC Symbol;Acc:12703]
Gene Synonyms
ARB, BEST, BMD, RP50, TU15B, VMD2
Location
Chromosome 11: 61,717,293-61,732,987 forward strand.
GRCh37:CM000673.1
About this gene
This gene has 11 transcripts (splice variants), 3 paralogues and is associated with 16 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000449131.2 | BEST1-002 | 4267 | 604aa | ENSP00000399709.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44623 | G8JLA7 O76090 | NM_001139443.1 | 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, |
ENST00000378043.4 | BEST1-001 | 2740 | 585aa | ENSP00000367282.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31580 | O76090 | NM_004183.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000378042.3 | BEST1-202 | 2598 | 498aa | ENSP00000367281.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | O76090 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000534553.1 | BEST1-004 | 1829 | 55aa | ENSP00000431189.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PMB5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000301774.9 | BEST1-201 | 1829 | 292aa | ENSP00000301774.9 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G8JLA7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000526988.1 | BEST1-006 | 1263 | 329aa | ENSP00000433195.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z1N8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000435278.2 | BEST1-203 | 1023 | 270aa | ENSP00000408390.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B7Z375 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000524926.1 | BEST1-003 | 2404 | 435aa | ENSP00000432681.1 | Nonsense mediated decay | B7Z1N8 B7Z3G2 O76090 | - | - | |
ENST00000524877.1 | BEST1-005 | 5772 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000529265.1 | BEST1-008 | 1421 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000533521.1 | BEST1-007 | 1128 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |