Human (GRCh38.p14)
Description

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

Gene Synonyms

ARSACS, DKFZP686B15167, DNAJC29, KIAA0730, PPP1R138, SPAX6

Location
About this transcript

This transcript has 11 exons, is annotated with 11 domains and features, is associated with 48961 variant alleles and maps to 388 oligo probes.

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
---
Statistics

Exons: 11, Coding exons: 10, Transcript length: 3,321 bps, Translation length: 830 residues

Version

ENST00000684385.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Annotation Attributes

RNA-Seq supported only [Definitions]

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.