Description
Bardet-Biedl syndrome 5 (human)
Location
Chromosome 2: 69,647,171-69,667,571 forward strand.
About this gene
This gene has 8 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| Bbs5-001 | OTTMUST00000031285.1 | 1468 | 341aa | OTTMUSP00000013998 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS16094 | Q9CZQ9 | |
| Bbs5-003 | OTTMUST00000031287.1 | 1397 | 320aa | OTTMUSP00000013999 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A2AUC6 | |
| Bbs5-008 | OTTMUST00000031292.1 | 643 | 92aa | OTTMUSP00000014000 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F6Q242 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| Bbs5-002 | OTTMUST00000031286.2 | 1124 | 88aa | OTTMUSP00000040932 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | D6RJ69 | |
| Bbs5-004 | OTTMUST00000031288.1 | 683 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| Bbs5-007 | OTTMUST00000031291.1 | 508 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| Bbs5-006 | OTTMUST00000031290.1 | 474 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| Bbs5-005 | OTTMUST00000031289.1 | 425 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
