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 3 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000354265.4 | BBS9-201 | 3914 | 852aa | ENSP00000346214.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JJ08 C9JRR5 E7EX43 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
