Description
Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:30000]
Gene Synonyms
B1, C18, D1, PTHB1
Location
Chromosome 7: 33,168,856-33,645,680 forward strand.
GRCh37:CM000669.1
About this gene
This gene has 16 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000242067.6 | BBS9-004 | 4027 | 887aa | ENSP00000242067.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43566 | C9JJ08 C9JRR5 Q3SYG4 | NM_198428.2 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000355070.2 | BBS9-005 | 4004 | 882aa | ENSP00000347182.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34618 | C9JJ08 C9JRR5 E9PDC9 | NM_001033605.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000396127.2 | BBS9-003 | 3914 | 852aa | ENSP00000379433.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47572 | C9JJ08 C9JRR5 Q3SYG4 | NM_001033604.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000354265.4 | BBS9-201 | 3914 | 852aa | ENSP00000346214.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JJ08 C9JRR5 E7EX43 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000350941.3 | BBS9-001 | 3899 | 847aa | ENSP00000313122.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS5441 | C9JJ08 C9JRR5 Q3SYG4 | NM_014451.3 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
ENST00000434373.1 | BBS9-006 | 1982 | 454aa | ENSP00000388114.1 | 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, | |
ENST00000425508.2 | BBS9-202 | 1581 | 310aa | ENSP00000405151.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JRR5 Q3SYG4 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
ENST00000432983.1 | BBS9-009 | 613 | 97aa | ENSP00000415794.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JJ08 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000442858.1 | BBS9-010 | 596 | 146aa | ENSP00000388646.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JRR5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000433714.1 | BBS9-002 | 3705 | 460aa | ENSP00000412159.1 | Nonsense mediated decay | C9JJ08 C9JRR5 F8WCG5 | - | - | |
ENST00000482941.1 | BBS9-008 | 707 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000496029.1 | BBS9-011 | 650 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000465037.1 | BBS9-007 | 535 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000489708.1 | BBS9-012 | 459 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000498189.1 | BBS9-013 | 614 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000495426.1 | BBS9-015 | 481 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |