Description
spastic paraplegia 7 (pure and complicated autosomal recessive) [Source:HGNC Symbol;Acc:11237]
Gene Synonyms
CAR, CMAR, PGN, SPG5C
Location
Chromosome 16: 89,574,819-89,604,129 forward strand.
About this transcript
This transcript has 10 exons, is annotated with 15 domains and features, is associated with 18986 variant alleles and maps to 313 oligo probes.
Gene
This transcript is a product of gene ENSG00000197912.9 Show transcript tableHide transcript table
| 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 | - | - | - |