Description
Bardet-Biedl syndrome 1 [Source:HGNC Symbol;Acc:966]
Gene Synonyms
BBS2L2, FLJ23590
Location
Chromosome 11: 66,278,077-66,301,098 forward strand.
GRCh37:CM000673.1
About this gene
This gene has 25 transcripts (splice variants), 1 paralogue and is associated with 5 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000318312.7 | BBS1-001 | 3423 | 593aa | ENSP00000317469.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8142 | E9PPR3 E9PQD9 Q8NFJ9 | NM_024649.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000393994.2 | BBS1-009 | 1790 | 446aa | ENSP00000377563.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PPR3 E9PQD9 Q32MM9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000455748.2 | BBS1-006 | 1552 | 496aa | ENSP00000405764.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EQH1 E9PQD9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000537537.1 | BBS1-201 | 1002 | 165aa | ENSP00000439873.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DYY3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000525809.1 | BBS1-014 | 601 | 192aa | ENSP00000431187.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PMB7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000526815.1 | BBS1-013 | 584 | 54aa | ENSP00000436860.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PQD9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000524705.1 | BBS1-019 | 334 | 67aa | ENSP00000436927.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PPR3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000526760.1 | BBS1-003 | 3585 | 85aa | ENSP00000432140.1 | Nonsense mediated decay | E9PJ28 E9PQK2 | - | - | |
| ENST00000533557.1 | BBS1-004 | 1043 | 85aa | ENSP00000434619.1 | Nonsense mediated decay | E9PJ28 E9PQK2 | - | - | |
| ENST00000527251.1 | BBS1-012 | 1034 | 55aa | ENSP00000434360.1 | Nonsense mediated decay | E9PQK2 | - | - | |
| ENST00000532908.1 | BBS1-018 | 1001 | 85aa | ENSP00000431866.1 | Nonsense mediated decay | E9PJ28 E9PQK2 | - | - | |
| ENST00000533644.1 | BBS1-011 | 910 | 164aa | ENSP00000436073.1 | Nonsense mediated decay | E9PQD9 E9PR55 | - | - | |
| ENST00000524458.1 | BBS1-020 | 891 | 55aa | ENSP00000436195.1 | Nonsense mediated decay | E9PQK2 | - | - | |
| ENST00000526035.1 | BBS1-015 | 822 | 85aa | ENSP00000434197.1 | Nonsense mediated decay | E9PJ28 E9PQK2 | - | - | |
| ENST00000529766.1 | BBS1-008 | 1590 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000529953.1 | BBS1-021 | 604 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000529955.1 | BBS1-007 | 3437 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000533430.1 | BBS1-022 | 844 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000524907.1 | BBS1-017 | 828 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000527959.1 | BBS1-026 | 734 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000534730.1 | BBS1-016 | 627 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000532283.1 | BBS1-023 | 590 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000524884.1 | BBS1-024 | 572 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000529895.1 | BBS1-025 | 560 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000528543.1 | BBS1-010 | 384 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
