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 | 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, |
| 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 | - | - | - |
