Description
Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:15832]
Gene Synonyms
GNG3LG, HMN5, SPG17
Location
Chromosome 11: 62,457,747-62,477,317 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 28 transcripts (splice variants) and is associated with 8 phenotypes.
Transcripts
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000433053.1 | BSCL2-201 | 2038 | 462aa | ENSP00000414002.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44627 | E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PRU2 E9PSB5 F8W7Q8 Q96G97 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000405837.1 | BSCL2-001 | 1984 | 464aa | ENSP00000385332.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PRU2 E9PSB5 F8W7Q8 J3KQ12 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
ENST00000403550.1 | BSCL2-006 | 1693 | 398aa | ENSP00000385561.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8031 | E9PRU2 F8W7Q8 Q96G97 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000360796.5 | BSCL2-003 | 1683 | 462aa | ENSP00000354032.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS44627 | E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PRU2 E9PSB5 F8W7Q8 Q96G97 | NM_001122955.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000407022.3 | BSCL2-005 | 1516 | 398aa | ENSP00000384080.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8031 | E9PRU2 F8W7Q8 Q96G97 | NM_032667.6 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000421906.1 | BSCL2-004 | 1440 | 398aa | ENSP00000413209.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS8031 | E9PRU2 F8W7Q8 Q96G97 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000278893.7 | BSCL2-008 | 1364 | 287aa | ENSP00000278893.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55769 | E9PRU2 F8W7Q8 Q96G97 | NM_001130702.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
ENST00000448568.2 | BSCL2-022 | 992 | 223aa | ENSP00000413340.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PRU2 F8W7Q8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000524862.1 | BSCL2-020 | 865 | 226aa | ENSP00000433888.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PIU3 E9PJK0 E9PJS9 E9PPN5 E9PRU2 E9PSB5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000531524.1 | BSCL2-023 | 844 | 111aa | ENSP00000436026.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PJS9 E9PPN5 E9PR78 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000464544.1 | BSCL2-009 | 794 | 93aa | ENSP00000431782.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PJK0 E9PJS9 E9PPN5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000532818.1 | BSCL2-019 | 662 | 123aa | ENSP00000435831.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PJK0 E9PJS9 E9PPN5 E9PSB5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000533982.1 | BSCL2-024 | 585 | 99aa | ENSP00000434149.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PRU2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000528874.1 | BSCL2-021 | 553 | 23aa | ENSP00000436991.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PPN5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000449636.1 | BSCL2-012 | 545 | 150aa | ENSP00000405265.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C2D5 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000530009.1 | BSCL2-018 | 539 | 28aa | ENSP00000435500.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E9PJS9 E9PPN5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
ENST00000403098.2 | BSCL2-027 | 326 | 79aa | ENSP00000384258.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7BYY0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
ENST00000525000.1 | BSCL2-025 | 154 | 52aa | ENSP00000437044.1 | Gene/transcipt that contains an open reading frame (ORF).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, | |
ENST00000301781.6 | BSCL2-002 | 1712 | 277aa | ENSP00000301781.5 | Nonsense mediated decay | E9PJK0 E9PJS9 E9PPN5 E9PRU2 E9PSB5 H7BXM1 | - | - | |
ENST00000413908.1 | BSCL2-010 | 578 | 39aa | ENSP00000393728.1 | Nonsense mediated decay | E9PJS9 E9PPN5 F8WER0 | - | - | |
ENST00000537604.1 | BSCL2-029 | 691 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000412351.1 | BSCL2-015 | 491 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000530900.1 | BSCL2-026 | 398 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000526426.1 | BSCL2-028 | 353 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000532115.1 | BSCL2-017 | 328 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
ENST00000463679.1 | BSCL2-011 | 881 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000468505.1 | BSCL2-013 | 547 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
ENST00000470529.1 | BSCL2-014 | 512 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |