Transcript: ENST00000382292.3 SACS-001

Description

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

Gene Synonyms

ARSACS, DKFZp686B15167, DNAJC29, KIAA0730

Location

Chromosome 13: 23,902,965-23,985,652 reverse strand.

About this transcript

This transcript has 9 exons, is annotated with 28 domains and features, is associated with 39426 variant alleles and maps to 452 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	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, 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: 9, Coding exons: 9, Transcript length: 15,324 bps, Translation length: 4,579 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9NZJ4

CCDS

This transcript is a member of the Human CCDS set: CCDS9300

Version

ENST00000382292.3

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:	OTTHUMT00000044148 (version 3)

Annotation Attributes

inferred exon combination [Definitions]

GENCODE basic gene

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

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Transcript: ENST00000382292.3 SACS-001

Summary