Description

Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:HGNC:15832]

Synonyms

GNG3LG, SPG17

Location
Gene

This transcript is a product of gene ENSG00000168000

This gene has 27 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDLengthProteinBiotypeCCDSUniProtRefSeqFlags
BSCL2-006ENST000004035501693 bp398 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8031E9PRU2 F8W7Q8 Q96G97
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-003ENST000003607961683 bp462 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS44627E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
F8W7Q8 Q96G97
NM_001122955
NP_001116427
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-005ENST000004070221516 bp398 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8031E9PRU2 F8W7Q8 Q96G97
NM_032667
NP_116056
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-004ENST000004219061440 bp398 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS8031E9PRU2 F8W7Q8 Q96G97
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-008ENST000002788931364 bp287 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS55769E9PRU2 F8W7Q8 Q96G97
NM_001130702
NP_001124174
GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-001ENST000004058371984 bp464 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
F8W7Q8 J3KQ12
-GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
BSCL2-022ENST00000448568992 bp223 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PRU2 F8W7Q8 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-020ENST00000524862865 bp226 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PIU3 E9PJK0 E9PJS9
E9PPN5 E9PRU2 E9PSB5
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-023ENST00000531524844 bp111 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PJS9 E9PPN5 E9PR78
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-009ENST00000464544794 bp93 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PJK0 E9PJS9 E9PPN5
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-019ENST00000532818662 bp123 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PJK0 E9PJS9 E9PPN5
E9PSB5
-CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-024ENST00000533982585 bp99 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PRU2 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-021ENST00000528874553 bp23 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PPN5 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-012ENST00000449636545 bp150 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7C2D5 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
BSCL2-018ENST00000530009539 bp28 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-E9PJS9 E9PPN5 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.
BSCL2-027ENST00000403098326 bp79 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-H7BYY0 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.
BSCL2-025ENST00000525000154 bp52 aa (view)
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
---CDS 5' and 3' incomplete5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.
BSCL2-002ENST000003017811712 bp277 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E9PJK0 E9PJS9 E9PPN5
E9PRU2 E9PSB5 H7BXM1
-
BSCL2-010ENST00000413908578 bp39 aa (view)
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-E9PJS9 E9PPN5 F8WER0
-
BSCL2-029ENST00000537604691 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BSCL2-015ENST00000412351491 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BSCL2-026ENST00000530900398 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BSCL2-028ENST00000526426353 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BSCL2-017ENST00000532115328 bp No protein product
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---
BSCL2-011ENST00000463679881 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
BSCL2-013ENST00000468505547 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
BSCL2-014ENST00000470529512 bp No protein product
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---
Statistics

Exons: 11 Coding exons: 10 Transcript length: 1,516 bps Translation length: 398 residues

CCDS

This transcript is a member of the Human CCDS set: CCDS8031

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q96G97

Ensembl version

ENST00000407022.4

Type

Known protein coding

Prediction Method

Transcript where the Ensembl genebuild transcript and the Vega manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Transcript-based displays