Description
Bernardinelli-Seip congenital lipodystrophy 2 (seipin)
Location
Chromosome 11: 62,690,275-62,709,845 reverse strand.
VEGA68:CM000673.2
About this gene
This gene has 27 transcripts (splice variants).
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| BSCL2-006 | OTTHUMT00000319185.1 | 1693 | 398aa | OTTHUMP00000198007 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS8031 | Q96G97 | |
| BSCL2-003 | OTTHUMT00000319182.2 | 1683 | 462aa | OTTHUMP00000198004 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS44627 | A0A024R540 | |
| BSCL2-005 | OTTHUMT00000319184.1 | 1516 | 398aa | OTTHUMP00000198006 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS8031 | Q96G97 | |
| BSCL2-004 | OTTHUMT00000319183.2 | 1440 | 398aa | OTTHUMP00000198005 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS8031 | Q96G97 | |
| BSCL2-008 | OTTHUMT00000319187.2 | 1364 | 287aa | OTTHUMP00000198009 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS55769 | - | |
| BSCL2-001 | OTTHUMT00000319180.4 | 1984 | 464aa | OTTHUMP00000198002 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A024R587 | |
| BSCL2-022 | OTTHUMT00000395171.1 | 992 | 223aa | OTTHUMP00000236223 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | F8W7Q8 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-020 | OTTHUMT00000395174.2 | 865 | 226aa | OTTHUMP00000236225 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PIU3 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-023 | OTTHUMT00000395173.2 | 844 | 111aa | OTTHUMP00000236224 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PR78 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-009 | OTTHUMT00000319188.3 | 794 | 93aa | OTTHUMP00000236229 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-019 | OTTHUMT00000395178.2 | 662 | 123aa | OTTHUMP00000236228 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PSB5 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-024 | OTTHUMT00000395177.2 | 585 | 99aa | OTTHUMP00000236227 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PRU2 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-021 | OTTHUMT00000395180.3 | 553 | 23aa | OTTHUMP00000236231 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-012 | OTTHUMT00000319191.1 | 545 | 150aa | OTTHUMP00000198011 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| BSCL2-018 | OTTHUMT00000395179.3 | 539 | 28aa | OTTHUMP00000236230 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
| BSCL2-027 | OTTHUMT00000395169.1 | 326 | 79aa | OTTHUMP00000236222 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H7BYY0 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
| BSCL2-025 | OTTHUMT00000395176.2 | 154 | 52aa | OTTHUMP00000236226 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
| BSCL2-002 | OTTHUMT00000319181.1 | 1712 | 277aa | OTTHUMP00000198003 | 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 | - | H7BXM1 | |
| BSCL2-010 | OTTHUMT00000319189.1 | 578 | 39aa | OTTHUMP00000198010 | 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 | - | - | |
| BSCL2-029 | OTTHUMT00000396099.1 | 691 | 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 | - | - | |
| BSCL2-015 | OTTHUMT00000319194.1 | 491 | 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 | - | - | |
| BSCL2-026 | OTTHUMT00000395175.1 | 398 | 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 | - | - | |
| BSCL2-028 | OTTHUMT00000395172.1 | 353 | 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 | - | - | |
| BSCL2-017 | OTTHUMT00000395170.1 | 328 | 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 | - | - | |
| BSCL2-011 | OTTHUMT00000319190.1 | 881 | 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 | - | - | |
| BSCL2-013 | OTTHUMT00000319192.1 | 547 | 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 | - | - | |
| BSCL2-014 | OTTHUMT00000319193.1 | 512 | 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 | - | - |
