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) and is associated with 2 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000559199.1 | SPG21-002 | 2059 | 154aa | ENSP00000456365.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BRR0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
