Transcript: ENST00000402364.1 SACS-003

Description

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

Gene Synonyms

ARSACS, DKFZp686B15167, DNAJC29, KIAA0730

Location

Chromosome 13: 23,902,965-23,949,682 reverse strand.

About this transcript

This transcript has 8 exons, is annotated with 21 domains and features, is associated with 23193 variant alleles and maps to 446 oligo probes.

Gene

This transcript is a product of gene ENSG00000151835.9 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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000382292.3	SACS-001	15324	4579aa	ENSP00000371729.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS9300	Q9NZJ4	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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		-	-	-

Summary

Statistics

Exons: 8, Coding exons: 1, Transcript length: 15,134 bps, Translation length: 3,829 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NZJ4

Version

ENST00000402364.1

Type

Protein coding

Annotation Method

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

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000044150 (version 3)

GENCODE basic gene

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

Favourite species

All species

Recent locations

Transcript: ENST00000402364.1 SACS-003

Summary