Description
Bardet-Biedl syndrome 2 [Source:HGNC Symbol;Acc:967]
Gene Synonyms
BBS
Location
Chromosome 16: 56,500,748-56,554,195 reverse strand.
GRCh37:CM000678.1
About this gene
This gene has 21 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000245157.5 | BBS2-001 | 2963 | 721aa | ENSP00000245157.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS32451 | J3QLW0 Q8ND60 Q9BXC9 | NM_031885.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000568104.1 | BBS2-005 | 2623 | 675aa | ENSP00000456289.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRL0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000564459.1 | BBS2-020 | 641 | 142aa | ENSP00000463731.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QLW0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000569941.1 | BBS2-006 | 564 | 5aa | ENSP00000456741.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000564123.2 | BBS2-021 | 395 | 85aa | ENSP00000463176.1 | 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, | |
| ENST00000562012.1 | BBS2-017 | 865 | 119aa | ENSP00000455651.1 | Nonsense mediated decay | H3BQ79 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561877.1 | BBS2-010 | 588 | 76aa | ENSP00000454986.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561951.1 | BBS2-019 | 845 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000566689.1 | BBS2-007 | 578 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000565378.1 | BBS2-008 | 574 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000566410.1 | BBS2-011 | 350 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000565781.1 | BBS2-002 | 6073 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562813.1 | BBS2-003 | 4026 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569342.1 | BBS2-004 | 1525 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000565859.1 | BBS2-009 | 775 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566495.1 | BBS2-013 | 766 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569192.1 | BBS2-015 | 716 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562059.1 | BBS2-012 | 598 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561853.1 | BBS2-018 | 473 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566210.1 | BBS2-014 | 445 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000566452.1 | BBS2-016 | 299 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
