Description
Bardet-Biedl syndrome 1
Location
Chromosome 11: 66,510,648-66,515,828 forward strand.
About this transcript
This transcript has 6 exons.
Gene
This transcript is a product of gene OTTHUMG00000167110 Show transcript tableHide transcript table
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| BBS1-001 | OTTHUMT00000393235.2 | 3423 | 593aa | OTTHUMP00000235218 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS8142 | Q8NFJ9 | |
| BBS1-009 | OTTHUMT00000393241.1 | 1790 | 446aa | OTTHUMP00000235221 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
| BBS1-006 | OTTHUMT00000393238.1 | 1552 | 496aa | OTTHUMP00000235220 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7EQH1 | |
| BBS1-014 | OTTHUMT00000393316.2 | 601 | 192aa | OTTHUMP00000235263 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PMB7 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BBS1-013 | OTTHUMT00000393250.2 | 584 | 54aa | OTTHUMP00000235229 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PQD9 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BBS1-019 | OTTHUMT00000393321.2 | 333 | 66aa | OTTHUMP00000235266 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PPR3 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BBS1-005 | OTTHUMT00000393237.1 | 1104 | No protein | - | <p>Error in the sequence in a public database (for example UniProtKB, NCBI RefSeq). Annotation is by the <a rel="external" href="http://vega.sanger.ac.uk/info/about/gene_and_transcript_types.html">VEGA/Havana</a> project.</p>Artifact | - | - | |
| BBS1-003 | OTTHUMT00000393234.1 | 3585 | 85aa | OTTHUMP00000235217 | 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 | - | - | |
| BBS1-004 | OTTHUMT00000393236.1 | 1043 | 85aa | OTTHUMP00000235219 | 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 | - | - | |
| BBS1-012 | OTTHUMT00000393249.1 | 1034 | 55aa | OTTHUMP00000235228 | 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 | - | - | |
| BBS1-018 | OTTHUMT00000393319.1 | 1001 | 85aa | OTTHUMP00000235265 | 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 | - | - | |
| BBS1-011 | OTTHUMT00000393248.1 | 910 | 164aa | OTTHUMP00000235227 | 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 | - | E9PR55 | |
| BBS1-020 | OTTHUMT00000393322.1 | 891 | 55aa | OTTHUMP00000235267 | 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 | - | - | |
| BBS1-015 | OTTHUMT00000393317.1 | 822 | 85aa | OTTHUMP00000235264 | 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 | - | - | |
| BBS1-008 | OTTHUMT00000393240.1 | 1590 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| BBS1-021 | OTTHUMT00000393324.1 | 604 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| BBS1-007 | OTTHUMT00000393239.1 | 3437 | 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 | - | - | |
| BBS1-022 | OTTHUMT00000393323.1 | 844 | 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 | - | - | |
| BBS1-017 | OTTHUMT00000393320.1 | 828 | 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 | - | - | |
| BBS1-026 | OTTHUMT00000393328.1 | 734 | 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 | - | - | |
| BBS1-016 | OTTHUMT00000393318.1 | 627 | 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 | - | - | |
| BBS1-023 | OTTHUMT00000393325.1 | 590 | 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 | - | - | |
| BBS1-024 | OTTHUMT00000393326.1 | 572 | 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 | - | - | |
| BBS1-025 | OTTHUMT00000393327.1 | 560 | 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 | - | - | |
| BBS1-010 | OTTHUMT00000393251.1 | 384 | 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 | - | - |
