Description
spastic paraplegia 11 (autosomal recessive) [Source:HGNC Symbol;Acc:11226]
Gene Synonyms
FLJ21439, KIAA1840
Location
Chromosome 15: 44,854,894-44,955,876 reverse strand.
GRCh37:CM000677.1
About this gene
This gene has 25 transcripts (splice variants) and is associated with 6 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000261866.7 | SPG11-001 | 7774 | 2443aa | ENSP00000261866.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10112 | C4B7M3 H0YN96 Q96JI7 | NM_025137.3 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000535302.2 | SPG11-002 | 7288 | 2330aa | ENSP00000445278.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS53939 | C4B7M3 H0YN96 Q96JI7 | NM_001160227.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000427534.2 | SPG11-004 | 6935 | 2265aa | ENSP00000396110.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4B7M2 C4B7M3 H0YN96 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000558319.1 | SPG11-006 | 6426 | 2079aa | ENSP00000453599.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4B7M3 H0YN96 Q96JI7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000559193.1 | SPG11-003 | 2579 | 779aa | ENSP00000453848.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C4B7M3 H0YN34 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000559511.1 | SPG11-007 | 2127 | 567aa | ENSP00000453246.1 | 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, | |
| ENST00000558138.1 | SPG11-019 | 750 | 250aa | ENSP00000453314.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YLR8 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000558988.1 | SPG11-023 | 620 | 138aa | ENSP00000453921.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YN96 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000559754.1 | SPG11-010 | 411 | 107aa | ENSP00000453490.1 | 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, | |
| ENST00000557866.1 | SPG11-021 | 468 | 156aa | ENSP00000453227.1 | Non stop decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000558155.1 | SPG11-013 | 571 | 102aa | ENSP00000453238.1 | Nonsense mediated decay | H0YLK0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000559822.1 | SPG11-016 | 561 | 131aa | ENSP00000452744.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000560858.1 | SPG11-025 | 447 | 99aa | ENSP00000452991.1 | Nonsense mediated decay | H0YKY8 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000560435.1 | SPG11-022 | 413 | 43aa | ENSP00000452629.1 | Nonsense mediated decay | H0YK24 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000558253.1 | SPG11-014 | 879 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000558790.1 | SPG11-015 | 858 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000559347.1 | SPG11-027 | 716 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000558989.1 | SPG11-008 | 1816 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558080.1 | SPG11-026 | 759 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561391.1 | SPG11-012 | 629 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558561.1 | SPG11-024 | 555 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561268.1 | SPG11-018 | 530 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000558093.1 | SPG11-011 | 526 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000559933.1 | SPG11-017 | 518 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000560299.1 | SPG11-020 | 437 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
