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.
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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: 4 Coding exons: 0 Transcript length: 547 bps

Ensembl version

ENST00000468505.2

Type

Known retained intron

Prediction Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:

Transcript-based displays