Gene: SMARCB1 ENSG00000099956

Description

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [Source:HGNC Symbol;Acc:11103]

Gene Synonyms

BAF47, INI1, Ini1, MRD15, RDT, RTPS1, SNF5, SNF5L1, Sfh1p, Snr1, hSNFS

Location

Chromosome 22: 24,129,150-24,176,703 forward strand.

GRCh37:CM000684.1

About this gene

This gene has 7 transcripts (splice variants) and is associated with 90 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263121.7	SMARCB1-001	1690	385aa	ENSP00000263121.7	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13817	Q12824	NM_003073.3	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,
ENST00000344921.6	SMARCB1-005	1728	394aa	ENSP00000340883.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G5E975	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000407422.3	SMARCB1-002	1643	376aa	ENSP00000383984.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS46671	Q12824	NM_001007468.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000407082.3	SMARCB1-003	1182	339aa	ENSP00000385226.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B5MCL5	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000417137.1	SMARCB1-006	889	227aa	ENSP00000388489.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		C9JTA6	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000477836.1	SMARCB1-007	660	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000491967.1	SMARCB1-004	605	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

EMBL-EBI User Survey 2024

Gene: SMARCB1 ENSG00000099956

Summary

EMBL-EBI User Survey 2024

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Gene: SMARCB1 ENSG00000099956

Summary