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TWNK (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ATXN8, C10orf2, ENTREZ:56652, HGNC:1160, IOSCA, MIM:606075, MTDPS7, NM_001163812, NM_001163813, NM_001163814, NM_001368275, NM_021830, NP_001157284, NP_001157285, NP_001157286, NP_001355204, NP_068602, NR_160738, NR_160739, NR_160740, NR_160741, NR_160742, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL, TWNK, twinkle mtDNA helicase
Omim:OMIM:606075
Id:ENSG00000107815
Hgnc:HGNC:1160
Entrez:56652
Ensembl:ENSG00000107815
Description:twinkle mtDNA helicase
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

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

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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 TWNK.

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 TWNK.

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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 TWNK.

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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 TWNK.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195663 cisplatin 7 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE226525 GSE226527 HNRNPH2 knockout 6 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE229973 3 V 2 CISPLATIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE168401 2 V 0 HARMINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE108464 AZ-628 1 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE93156 idelalisib B cell 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE212330 azacitidine 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE218773 ABL2 knockdown Hep-G2 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE242555 1 V 0 NICOTINAMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195663 cisplatin 7 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE226525 GSE226527 HNRNPH2 knockout 6 v 5 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE229973 3 V 2 CISPLATIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE168401 2 V 0 HARMINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE108464 AZ-628 1 v 15 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE93156 idelalisib B cell 1 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE212330 azacitidine 1 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.