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) 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000474246.1 | SMARCE1-006 | 2124 | 77aa | ENSP00000463405.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3QL66 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000544009.1 | SMARCE1-201 | 1644 | 341aa | ENSP00000441857.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000377808.4 | SMARCE1-008 | 1307 | 328aa | ENSP00000367039.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 J3KT85 Q969G3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000400122.3 | SMARCE1-015 | 1263 | 293aa | ENSP00000411607.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C048 J3KT85 Q969G3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000580419.1 | SMARCE1-013 | 1228 | 376aa | ENSP00000462475.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000578044.1 | SMARCE1-014 | 1184 | 341aa | ENSP00000464511.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | J3KT85 Q969G3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
