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 | 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 | - | - | - |
