Description

spastic paraplegia 7 (pure and complicated autosomal recessive) [Source:HGNC Symbol;Acc:HGNC:11237]

Synonyms

CAR, CMAR, SPG5C

Location

Chromosome 16: 89,490,917-89,557,768 forward strand.

GRCh38:CM000678.2

About this gene

This gene has 23 transcripts (splice variants), 64 orthologues, is a member of 5 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
SPG7-001ENST000002687043076795aaENSP00000268704
 
Protein coding
CCDS10977Q9UQ90 NM_003119
NP_003110
TSL:1GENCODE basicAPPRIS P1
SPG7-002ENST000003413162288489aaENSP00000341157
 
Protein coding
CCDS10978Q9UQ90 NM_199367
NP_955399
TSL:1GENCODE basic
SPG7-201ENST000006208113420238aaENSP00000478030
 
Protein coding
-A0A087WTP1 -TSL:5GENCODE basic
SPG7-012ENST000005671381361109aaENSP00000483351
 
Protein coding
-A0A087X0F5 -CDS 5' incompleteTSL:2
SPG7-019ENST00000566682756154aaENSP00000461979
 
Protein coding
-J3KRF6 -CDS 5' incompleteTSL:3
SPG7-009ENST00000566371581131aaENSP00000454475
 
Protein coding
-H3BMP1 -CDS 3' incompleteTSL:3
SPG7-008ENST00000568151544181aaENSP00000457719
 
Protein coding
-H3BUN3 -CDS 5' and 3' incompleteTSL:4
SPG7-005ENST00000569820230570aaENSP00000454805
 
Nonsense mediated decay
-H3BNE4 -CDS 5' incompleteTSL:5
SPG7-018ENST000005619111025210aaENSP00000457387
 
Nonsense mediated decay
-H3BTY6 -CDS 5' incompleteTSL:5
SPG7-013ENST00000566221734106aaENSP00000457298
 
Nonsense mediated decay
-H3BTR8 -CDS 5' incompleteTSL:3
SPG7-023ENST000005685091369No protein-
 
Processed transcript
---TSL:2
SPG7-021ENST00000565891878No protein-
 
Processed transcript
---TSL:2
SPG7-007ENST00000563783573No protein-
 
Processed transcript
---TSL:3
SPG7-022ENST00000569363443No protein-
 
Processed transcript
---TSL:2
SPG7-006ENST000005617022042No protein-
 
Retained intron
---TSL:2
SPG7-003ENST000005627751595No protein-
 
Retained intron
---TSL:1
SPG7-020ENST00000569720909No protein-
 
Retained intron
---TSL:2
SPG7-011ENST00000564409717No protein-
 
Retained intron
---TSL:3
SPG7-014ENST00000565370686No protein-
 
Retained intron
---TSL:3
SPG7-016ENST00000563218654No protein-
 
Retained intron
---TSL:5
SPG7-017ENST00000568205463No protein-
 
Retained intron
---TSL:2
SPG7-010ENST00000564047422No protein-
 
Retained intron
---TSL:2
SPG7-015ENST00000561945411No protein-
 
Retained intron
---TSL:3

Gene-based displays