Description
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human)
Location
Chromosome 19: 8,837,687-8,848,667 forward strand.
About this gene
This gene has 9 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| Bscl2-002 | OTTMUST00000088819.1 | 1795 | 383aa | OTTMUSP00000048459 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS70931 | Q9Z2E9 | |
| Bscl2-001 | OTTMUST00000088818.1 | 1684 | 383aa | OTTMUSP00000048458 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS70931 | Q9Z2E9 | |
| Bscl2-008 | OTTMUST00000088857.1 | 1388 | 383aa | OTTMUSP00000048489 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS70931 | Q9Z2E9 | |
| Bscl2-004 | OTTMUST00000088821.2 | 1646 | 213aa | OTTMUSP00000048460 | 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 | - | E0CXJ2 | |
| Bscl2-009 | OTTMUST00000088858.1 | 685 | 134aa | OTTMUSP00000048490 | 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 | - | F6US45 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| Bscl2-007 | OTTMUST00000088856.1 | 846 | 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 | - | - | |
| Bscl2-005 | OTTMUST00000088854.1 | 3495 | 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 | - | - | |
| Bscl2-003 | OTTMUST00000088820.1 | 2806 | 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 | - | - | |
| Bscl2-006 | OTTMUST00000088855.1 | 1911 | 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 | - | - |
