Human (GRCh38.p14)
Description

sacsin molecular chaperone [Source:HGNC Symbol;Acc:HGNC:10519]

Gene Synonyms

ARSACS, DKFZP686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6

Location

Chromosome 13: 23,288,689-23,433,763 reverse strand.

GRCh38:CM000675.2

About this gene

This gene has 23 transcripts (splice variants), 213 orthologues and is associated with 3 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000382292.9SACS-201156354579aaENSP00000371729.3
 
Protein coding
CCDS9300Q9NZJ4-1 NM_014363.6MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:5
ENST00000682944.1SACS-210157124588aaENSP00000507173.1
 
Protein coding
A0A804HIQ1 -GENCODE basic
ENST00000402364.1SACS-202151343829aaENSP00000385844.1
 
Protein coding
Q9NZJ4-2 -GENCODE basicTSL:2
ENST00000683270.1SACS-21370092170aaENSP00000507624.1
 
Protein coding
A0A804HJS2 -GENCODE basic
ENST00000682775.1SACS-2094192739aaENSP00000508399.1
 
Protein coding
A0A804HLK7 -GENCODE basic
ENST00000683489.1SACS-2153954763aaENSP00000508403.1
 
Protein coding
A0A804HLL1 -GENCODE basic
ENST00000455470.6SACS-2043674832aaENSP00000406565.2
 
Protein coding
H0Y6M8 -GENCODE basicTSL:1
ENST00000683680.1SACS-2173660772aaENSP00000507223.1
 
Protein coding
A0A804HIU0 -GENCODE basic
ENST00000423156.2SACS-2033464750aaENSP00000390925.2
 
Protein coding
B2REB0 -GENCODE basicTSL:2
ENST00000683210.1SACS-2123379738aaENSP00000506739.1
 
Protein coding
A0A804HHS6 -GENCODE basic
ENST00000684385.1SACS-2223321830aaENSP00000507855.1
 
Protein coding
A0A804HKB3 -GENCODE basic
ENST00000684497.1SACS-2233168738aaENSP00000507057.1
 
Protein coding
A0A804HIG5 -GENCODE basic
ENST00000683367.1SACS-2143037747aaENSP00000507780.1
 
Protein coding
A0A804HK57 -GENCODE basic
ENST00000684163.1SACS-2192853756aaENSP00000508262.1
 
Protein coding
A0A804HL98 -GENCODE basic
ENST00000682547.1SACS-20881192aaENSP00000507735.1
 
Protein coding
A0A804HK18 -CDS 3' incomplete
ENST00000684325.1SACS-2214333729aaENSP00000508121.1
 
Nonsense mediated decay
A0A804HKY6 --
ENST00000476776.1SACS-205513No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000684196.1SACS-2205165No protein-
 
Retained intron
---
ENST00000682354.1SACS-2073768No protein-
 
Retained intron
---
ENST00000683154.1SACS-2112782No protein-
 
Retained intron
---
ENST00000682244.1SACS-2062711No protein-
 
Retained intron
---
ENST00000684053.1SACS-2182699No protein-
 
Retained intron
---
ENST00000683638.1SACS-2162500No protein-
 
Retained intron
---