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 26 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: 1,440 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:5

Ensembl version

ENST00000421906.5

Type

Known protein coding

Annotation 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:
GENCODE basic gene

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

Transcript-based displays