ATN1 (Gene)

Synonyms:ATN1, B37, CHEDDA, D12S755E, DRPLA, ENTREZ:1822, HGNC:3033, HRS, MIM:607462, NM_001007026, NM_001940, NOD, NP_001007027, NP_001931, atrophin 1
Id:ENSG00000111676
Entrez:1822
Description:atrophin 1
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View ATN1's neighborhood in the knowledge graph.

Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with ATN1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using ATN1.

Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for ATN1.

Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with ATN1.

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