Description

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

Synonyms

GNG3LG, SPG17

Location
About this transcript

This transcript has 11 exons, is annotated with 8 domains and features, is associated with 172 variations and maps to 27 oligo probes.

Gene
NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
BSCL2-006ENST000004035501693398aaENSP00000385561
 
Protein coding
CCDS8031A0A024R549 Q96G97 -TSL:5GENCODE basicAPPRIS P3
BSCL2-003ENST000003607961683462aaENSP00000354032
 
Protein coding
CCDS44627A0A024R540 Q96G97 NM_001122955
NP_001116427
TSL:1GENCODE basicAPPRIS ALT2
BSCL2-005ENST000004070221516398aaENSP00000384080
 
Protein coding
CCDS8031A0A024R549 Q96G97 NM_032667
NP_116056
TSL:1GENCODE basicAPPRIS P3
BSCL2-004ENST000004219061440398aaENSP00000413209
 
Protein coding
CCDS8031A0A024R549 Q96G97 -TSL:5GENCODE basicAPPRIS P3
BSCL2-008ENST000002788931364287aaENSP00000278893
 
Protein coding
CCDS55769Q96G97 NM_001130702
NP_001124174
TSL:2GENCODE basic
BSCL2-001ENST000004058371984464aaENSP00000385332
 
Protein coding
-J3KQ12 -TSL:1GENCODE basicAPPRIS ALT2
BSCL2-022ENST00000448568992223aaENSP00000413340
 
Protein coding
-F8W7Q8 -CDS 3' incompleteTSL:3
BSCL2-020ENST00000524862865226aaENSP00000433888
 
Protein coding
-E9PIU3 -CDS 3' incompleteTSL:5
BSCL2-023ENST00000531524844111aaENSP00000436026
 
Protein coding
-E9PR78 -CDS 3' incompleteTSL:3
BSCL2-009ENST0000046454479493aaENSP00000431782
 
Protein coding
-E9PJK0 -CDS 3' incompleteTSL:2
BSCL2-019ENST00000532818662123aaENSP00000435831
 
Protein coding
-E9PSB5 -CDS 3' incompleteTSL:2
BSCL2-024ENST0000053398258599aaENSP00000434149
 
Protein coding
-E9PRU2 -CDS 3' incompleteTSL:5
BSCL2-021ENST0000052887455323aaENSP00000436991
 
Protein coding
-E9PPN5 -CDS 3' incompleteTSL:4
BSCL2-012ENST00000449636545150aaENSP00000405265
 
Protein coding
-H7C2D5 -CDS 5' incompleteTSL:3
BSCL2-018ENST0000053000953928aaENSP00000435500
 
Protein coding
-E9PJS9 -CDS 3' incompleteTSL:4
BSCL2-027ENST0000040309832679aaENSP00000384258
 
Protein coding
-H7BYY0 -CDS 5' incompleteTSL:5
BSCL2-025ENST0000052500015452aaENSP00000437044
 
Protein coding
-H0YF20 -CDS 5' and 3' incompleteTSL:3
BSCL2-002ENST000003017811712277aaENSP00000301781
 
Nonsense mediated decay
-H7BXM1 -TSL:5
BSCL2-010ENST0000041390857839aaENSP00000393728
 
Nonsense mediated decay
-F8WER0 -TSL:4
BSCL2-029ENST00000537604691No protein-
 
Processed transcript
---TSL:3
BSCL2-015ENST00000412351491No protein-
 
Processed transcript
---TSL:3
BSCL2-026ENST00000530900398No protein-
 
Processed transcript
---TSL:3
BSCL2-028ENST00000526426353No protein-
 
Processed transcript
---TSL:3
BSCL2-017ENST00000532115328No protein-
 
Processed transcript
---TSL:3
BSCL2-011ENST00000463679881No protein-
 
Retained intron
---TSL:2
BSCL2-013ENST00000468505547No protein-
 
Retained intron
---TSL:2
BSCL2-014ENST00000470529512No protein-
 
Retained intron
---TSL:2
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

Transcript Support Level (TSL)

TSL:1

Ensembl version

ENST00000407022.7

Type

Known protein coding

Annotation 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