Description
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 [Source:HGNC Symbol;Acc:11109]
Gene Synonyms
BAF57
Location
Chromosome 17: 38,781,214-38,804,760 reverse strand.
GRCh37:CM000679.1
About this gene
This gene has 20 transcripts (splice variants), 277 orthologues, 20 paralogues and is associated with 47 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000348513.6 | SMARCE1-001 | 5840 | 411aa | ENSP00000323967.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS11370 | B4DGM3 C0IMW8 J3KT85 J3QKX6 J3QR61 Q969G3 | NM_003079.4 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000474246.1 | SMARCE1-006 | 2124 | 77aa | ENSP00000463405.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QL66 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000544009.1 | SMARCE1-201 | 1644 | 341aa | ENSP00000441857.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000431889.2 | SMARCE1-012 | 1569 | 393aa | ENSP00000445370.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DGM3 C0IMW8 J3KT85 J3QR61 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000377808.4 | SMARCE1-008 | 1307 | 328aa | ENSP00000367039.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 J3KT85 Q969G3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000400122.3 | SMARCE1-015 | 1263 | 293aa | ENSP00000411607.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 J3KT85 Q969G3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000580419.1 | SMARCE1-013 | 1228 | 376aa | ENSP00000462475.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000578044.1 | SMARCE1-014 | 1184 | 341aa | ENSP00000464511.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000478349.2 | SMARCE1-018 | 1090 | 288aa | ENSP00000463216.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C0IMW8 J3KT85 J3QKS7 J3QR61 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000264640.4 | SMARCE1-009 | 631 | 177aa | ENSP00000466608.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000582955.1 | SMARCE1-019 | 621 | 129aa | ENSP00000463282.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QKX6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000580654.1 | SMARCE1-016 | 554 | 153aa | ENSP00000464061.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C0IMW8 J3KT85 J3QR61 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000447024.1 | SMARCE1-010 | 536 | 157aa | ENSP00000392958.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000577721.1 | SMARCE1-017 | 449 | 101aa | ENSP00000462857.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000578112.1 | SMARCE1-011 | 2384 | 52aa | ENSP00000464501.1 | Nonsense mediated decay | J3QS32 | - | - | |
| ENST00000481231.1 | SMARCE1-007 | 695 | 55aa | ENSP00000462381.1 | Nonsense mediated decay | J3KS99 | - | - | |
| ENST00000493660.1 | SMARCE1-004 | 2284 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000469334.1 | SMARCE1-003 | 2128 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000578995.1 | SMARCE1-020 | 534 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000583294.1 | SMARCE1-021 | 476 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
