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 | 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 | - | - | - |
