Description
Bardet-Biedl syndrome 9 [Source:HGNC Symbol;Acc:30000]
Gene Synonyms
B1, C18, D1, PTHB1
Location
Chromosome 7: 33,169,152-33,353,923 forward strand.
About this transcript
This transcript has 10 exons, is annotated with 4 domains and features, is associated with 75127 variant alleles and maps to 328 oligo probes.
Gene
This transcript is a product of gene ENSG00000122507.16 Show transcript tableHide transcript table
| 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, 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 | - | - | - |