Description

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

Synonyms

BAF47, hSNFS, Ini1, PPP1R144, RDT, Sfh1p, SNF5L1, Snr1

Location

Chromosome 22: 23,786,963-23,834,516 forward strand.

View alleles of this gene on alternate assemblies

INSDC coordinates

chromosome:GRCh38:CM000684.2:23786963:23834516:1

About this gene

This gene has 7 transcripts (splice variants), 1 gene allele, 78 orthologues, is a member of 1 Ensembl protein family and is associated with 10 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SMARCB1-001ENST000002631211690385aaENSP00000263121
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS13817Q12824 NM_003073
NP_003064
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS P3

PRINCIPAL3 - APPRIS candidate principal isoform (earliest CCDS).

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

SMARCB1-002ENST000004074221643376aaENSP00000383984
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS46671Q12824 NM_001007468
NP_001007469
TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS ALT1

ALTERNATIVE1 - APPRIS candidate principal isoform that is conserved in at least three tested non-primate species.

APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods.

SMARCB1-005ENST000003449211728394aaENSP00000340883
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-G5E975 -TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
SMARCB1-003ENST000004070821182339aaENSP00000385226
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-B5MCL5 -TSL:5

Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).
SMARCB1-006ENST00000417137889227aaENSP00000388489
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
-C9JTA6 -CDS 3' incomplete3' truncation in transcript evidence prevents annotation of the end of the CDS.TSL:3

Transcript Support Level 3, when transcripts are supported by a single EST only.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

SMARCB1-007ENST00000477836660No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:2

Transcript Support Level 2, when transcripts are supported by multiple ESTs or by an mRNA flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

SMARCB1-004ENST00000491967605No protein-
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:1

Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays