Description
spastic paraplegia 21 (autosomal recessive, Mast syndrome) [Source:HGNC Symbol;Acc:20373]
Gene Synonyms
ACP33, BM-019, GL010, MAST
Location
Chromosome 15: 65,255,362-65,282,648 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 14 transcripts (splice variants), 229 orthologues and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000204566.2 | SPG21-001 | 1822 | 308aa | ENSP00000204566.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10198 | H0YKB0 H0YLD7 H0YLT5 H0YLW1 H0YMB7 H0YML6 H3BRR0 Q9NZD8 | NM_016630.3 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000559199.1 | SPG21-002 | 2059 | 154aa | ENSP00000456365.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRR0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000433215.2 | SPG21-005 | 1613 | 308aa | ENSP00000404111.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10198 | H0YKB0 H0YLD7 H0YLT5 H0YLW1 H0YMB7 H0YML6 H3BRR0 Q9NZD8 | NM_001127889.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000416889.2 | SPG21-003 | 1533 | 281aa | ENSP00000394846.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS45279 | H0YLD7 H0YLW1 H0YML6 H3BRR0 Q9NZD8 | NM_001127890.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000557795.1 | SPG21-011 | 747 | 141aa | ENSP00000453541.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLD7 H0YLT5 H0YLW1 H0YMB7 H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000558765.1 | SPG21-010 | 624 | 150aa | ENSP00000452728.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YKB0 H0YLD7 H0YLT5 H0YLW1 H0YMB7 H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000558415.1 | SPG21-009 | 562 | 53aa | ENSP00000453167.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLD7 H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000559677.1 | SPG21-006 | 553 | 102aa | ENSP00000453333.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLD7 H0YLT5 H0YLW1 H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000558943.1 | SPG21-012 | 544 | 71aa | ENSP00000453362.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLD7 H0YLW1 H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000560878.1 | SPG21-013 | 541 | 40aa | ENSP00000453658.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YML6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000561078.1 | SPG21-004 | 1520 | 129aa | ENSP00000452865.1 | Nonsense mediated decay | H0YKM6 H0YLD7 H0YLW1 H0YML6 | - | - | |
| ENST00000560564.1 | SPG21-007 | 607 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000558339.1 | SPG21-008 | 582 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000561088.1 | SPG21-015 | 560 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
