Human (GRCh37.p13)
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 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000268704.2SPG7-0013076795aaENSP00000268704.2
 
Protein coding
CCDS10977Q9UQ90 NM_003119.2GENCODE basic
ENST00000341316.2SPG7-0022288489aaENSP00000341157.2
 
Protein coding
CCDS10978Q9UQ90 NM_199367.1GENCODE basic
ENST00000566682.1SPG7-019756154aaENSP00000461979.1
 
Protein coding
--CDS 5' incomplete
ENST00000566371.1SPG7-009581131aaENSP00000454475.1
 
Protein coding
H3BMP1 -CDS 3' incomplete
ENST00000568151.1SPG7-008544181aaENSP00000457719.1
 
Protein coding
H3BUN3 -CDS 5' and 3' incomplete
ENST00000569820.1SPG7-005230570aaENSP00000454805.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000561911.1SPG7-0181025210aaENSP00000457387.1
 
Nonsense mediated decay
H3BTY6 -CDS 5' incomplete
ENST00000566221.1SPG7-013734106aaENSP00000457298.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000565891.1SPG7-021878No protein-
 
Processed transcript
---
ENST00000563783.1SPG7-007573No protein-
 
Processed transcript
---
ENST00000568509.1SPG7-023552No protein-
 
Processed transcript
---
ENST00000569363.1SPG7-022443No protein-
 
Processed transcript
---
ENST00000561702.1SPG7-0062042No protein-
 
Retained intron
---
ENST00000562775.1SPG7-0031595No protein-
 
Retained intron
---
ENST00000569720.1SPG7-020909No protein-
 
Retained intron
---
ENST00000564409.1SPG7-011717No protein-
 
Retained intron
---
ENST00000565370.1SPG7-014686No protein-
 
Retained intron
---
ENST00000563218.1SPG7-016654No protein-
 
Retained intron
---
ENST00000568205.1SPG7-017463No protein-
 
Retained intron
---
ENST00000564047.1SPG7-010422No protein-
 
Retained intron
---
ENST00000561945.1SPG7-015411No protein-
 
Retained intron
---
ENST00000567138.1SPG7-012295No protein-
 
Retained intron
---