Description
spastic paraplegia 7 (pure and complicated autosomal recessive) [Source:HGNC Symbol;Acc:11237]
Gene Synonyms
CAR, CMAR, PGN, SPG5C
Location
Chromosome 16: 89,557,325-89,624,176 forward strand.
GRCh37:CM000678.1
About this gene
This gene has 22 transcripts (splice variants) and is associated with 3 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000268704.2 | SPG7-001 | 3076 | 795aa | ENSP00000268704.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10977 | Q9UQ90 | NM_003119.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000341316.2 | SPG7-002 | 2288 | 489aa | ENSP00000341157.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS10978 | Q9UQ90 | NM_199367.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000566682.1 | SPG7-019 | 756 | 154aa | ENSP00000461979.1 | 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, | |
| ENST00000566371.1 | SPG7-009 | 581 | 131aa | ENSP00000454475.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BMP1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000568151.1 | SPG7-008 | 544 | 181aa | ENSP00000457719.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H3BUN3 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000569820.1 | SPG7-005 | 2305 | 70aa | ENSP00000454805.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000561911.1 | SPG7-018 | 1025 | 210aa | ENSP00000457387.1 | Nonsense mediated decay | H3BTY6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000566221.1 | SPG7-013 | 734 | 106aa | ENSP00000457298.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000565891.1 | SPG7-021 | 878 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000563783.1 | SPG7-007 | 573 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000568509.1 | SPG7-023 | 552 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000569363.1 | SPG7-022 | 443 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000561702.1 | SPG7-006 | 2042 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000562775.1 | SPG7-003 | 1595 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000569720.1 | SPG7-020 | 909 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564409.1 | SPG7-011 | 717 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000565370.1 | SPG7-014 | 686 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000563218.1 | SPG7-016 | 654 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000568205.1 | SPG7-017 | 463 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000564047.1 | SPG7-010 | 422 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000561945.1 | SPG7-015 | 411 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000567138.1 | SPG7-012 | 295 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
