Gene: SACS ENSG00000151835

Description

spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]

Gene Synonyms

ARSACS, DKFZp686B15167, DNAJC29, KIAA0730

Location

Chromosome 13: 23,902,965-24,007,841 reverse strand.

GRCh37:CM000675.1

About this gene

This gene has 6 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000382298.3	SACS-201	15639	4579aa	ENSP00000371735.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9300	Q9NZJ4	NM_014363.5	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000382292.3	SACS-001	15324	4579aa	ENSP00000371729.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9300	Q9NZJ4	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000402364.1	SACS-003	15134	3829aa	ENSP00000385844.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9NZJ4	NM_001278055.1	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000455470.1	SACS-004	2784	732aa	ENSP00000406565.1	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,
ENST00000423156.1	SACS-005	1709	374aa	ENSP00000390925.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B2REB0	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000476776.1	SACS-002	513	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

Favourite species

All species

Recent locations

Gene: SACS ENSG00000151835

Summary