Description
Bloom syndrome, RecQ helicase-like
Synonyms
RECQ2, BS, RECQL3
Location
Chromosome 15: 90,717,327-90,816,165 forward strand.
VEGA68:CM000677.2
About this gene
This gene has 10 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| BLM-001 | OTTHUMT00000313495.2 | 5258 | 1417aa | OTTHUMP00000194750 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS10363 | P54132 | |
| BLM-002 | OTTHUMT00000417940.1 | 3966 | 1286aa | OTTHUMP00000248161 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS73782 | H0YNU5 | |
| BLM-003 | OTTHUMT00000417941.1 | 4510 | 413aa | OTTHUMP00000248162 | 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 | - | - | |
| BLM-004 | OTTHUMT00000417946.1 | 2023 | 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 | - | - | |
| BLM-010 | OTTHUMT00000417949.1 | 1024 | 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 | - | - | |
| BLM-006 | OTTHUMT00000417942.1 | 866 | 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 | - | - | |
| BLM-007 | OTTHUMT00000417944.2 | 577 | 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 | - | - | |
| BLM-009 | OTTHUMT00000417945.1 | 533 | 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 | - | - | |
| BLM-005 | OTTHUMT00000417948.1 | 1683 | 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 | - | - | |
| BLM-011 | OTTHUMT00000417947.1 | 747 | 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 | - | - |
