Gene: BSCL2 ENSG00000168000

Description

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

Gene Synonyms

GNG3LG, HMN5, SPG17

Location

Chromosome 11: 62,457,747-62,477,317 reverse strand.

GRCh37:CM000673.1

About this gene

This gene has 28 transcripts (splice variants) and is associated with 8 phenotypes.

Transcripts

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	-	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, 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		-	-	-

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Gene: BSCL2 ENSG00000168000

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Gene: BSCL2 ENSG00000168000

Summary