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DKC1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:CBF5, DKC, DKC1, DKCX, ENTREZ:1736, HGNC:2890, MIM:300126, NAP57, NM_001142463, NM_001288747, NM_001363, NOLA4, NP_001135935, NP_001275676, NP_001354, NR_110021, NR_110022, NR_110023, XAP101, dyskerin pseudouridine synthase 1
Omim:OMIM:300126
Id:ENSG00000130826
Hgnc:HGNC:2890
Entrez:1736
Ensembl:ENSG00000130826
Description:dyskerin pseudouridine synthase 1
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View DKC1's neighborhood in the knowledge graph.

Submit
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 DKC1.

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 DKC1.

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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 DKC1.

Submit
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 DKC1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE252944 AKT inhibition 10 v 15 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE135350 2 V 4 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158632 3 V 5 OXYQUINOLINE 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

GSE208634 1 V 2 DOXYCYCLINE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE131887 5 V 2 DOXYCYCLINE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE96649 1 V 0 DEXAMETHASONE 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

    GSE225869 1 V 0 TEMOZOLOMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE252944 AKT inhibition 10 v 15 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135350 2 V 4 DEXAMETHASONE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158632 3 V 5 OXYQUINOLINE 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

    GSE208634 1 V 2 DOXYCYCLINE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE131887 5 V 2 DOXYCYCLINE MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE96649 1 V 0 DEXAMETHASONE 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

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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.