Description
Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:15832]
Gene Synonyms
GNG3LG, HMN5, SPG17
Location
Chromosome 11: 62,457,748-62,474,870 reverse strand.
About this transcript
This transcript has 11 exons, is annotated with 9 domains and features, is associated with 9043 variant alleles and maps to 556 oligo probes.
Gene
This transcript is a product of gene ENSG00000168000.10 Show transcript tableHide transcript table
| 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 | - | 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 | - | - | - |