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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: ATXN1 ENSG00000124788

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Description

ataxin 1 [Source:HGNC Symbol;Acc:10548]

Gene Synonyms

ATX1, D6S504E, SCA1

Location

Chromosome 6: 16,299,343-16,761,722 reverse strand.

GRCh37:CM000668.1

About this gene

This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000244769.4	ATXN1-001	10602	815aa	ENSP00000244769.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34342	P54253	NM_000332.3	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,
ENST00000436367.1	ATXN1-201	10587	815aa	ENSP00000416360.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34342	P54253	NM_001128164.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000467008.1	ATXN1-004	3362	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000498374.1	ATXN1-005	1648	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000473388.2	ATXN1-008	1569	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000483591.2	ATXN1-002	892	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000495178.1	ATXN1-007	853	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000483954.1	ATXN1-009	744	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000492857.1	ATXN1-003	647	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479680.1	ATXN1-006	568	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Summary

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