Description
structural maintenance of chromosomes flexible hinge domain containing 1 [Source:HGNC Symbol;Acc:29090]
Gene Synonyms
KIAA0650
Location
Chromosome 18: 2,655,737-2,805,015 forward strand.
GRCh37:CM000680.1
About this gene
This gene has 14 transcripts (splice variants) and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000320876.6 | SMCHD1-001 | 8821 | 2005aa | ENSP00000326603.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45822 | A6NHR9 | NM_015295.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000261598.8 | SMCHD1-201 | 5943 | 1917aa | ENSP00000261598.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A6NHR9 J3KTL8 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000583800.1 | SMCHD1-015 | 865 | 48aa | ENSP00000463036.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000577880.1 | SMCHD1-006 | 4951 | 1388aa | ENSP00000463049.1 | Nonsense mediated decay | J3KTL8 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000584897.1 | SMCHD1-007 | 4143 | 150aa | ENSP00000464684.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000585229.1 | SMCHD1-004 | 555 | 49aa | ENSP00000462050.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000609587.1 | SMCHD1-016 | 460 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000581383.1 | SMCHD1-010 | 806 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000583344.1 | SMCHD1-003 | 738 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000581631.1 | SMCHD1-014 | 729 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000583441.1 | SMCHD1-008 | 657 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000581711.1 | SMCHD1-013 | 546 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000577300.1 | SMCHD1-012 | 506 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000581226.1 | SMCHD1-005 | 459 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
