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USH1C (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:AIE-75, DFNB18, DFNB18A, ENTREZ:10083, HGNC:12597, MIM:605242, NM_001297764, NM_005709, NM_153676, NP_001284693, NP_005700, NP_710142, NR_123738, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZ73, PDZD7C, USH1 protein network component harmonin, USH1C, XM_011519832, XM_011519834, XM_017017072, XM_017017073, XM_017017074, XM_017017075, XP_011518134, XP_011518136, XP_016872561, XP_016872562, XP_016872563, XP_016872564, XR_001747717, XR_930841, XR_930842, ush1cpst
Omim:OMIM:605242
Id:ENSG00000006611
Hgnc:HGNC:12597
Entrez:10083
Ensembl:ENSG00000006611
Description:USH1 protein network component harmonin
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View USH1C'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 USH1C.

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 USH1C.

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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 USH1C.

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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 USH1C.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE172016 2 V 5 PACLITAXEL HUMAN UP

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

GSE109285 3 V 2 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195663 cisplatin 7 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE173116 GSE173118 ML-7 3 v 5 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228106 3 V 5 PACLITAXEL HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE120612 6 V 5 ETOPOSIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE192771 2 V 0 SORAFENIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE210655 1 V 0 CISPLATIN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE172016 2 V 5 PACLITAXEL HUMAN UP

    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

    GSE109285 3 V 2 GLUCAGON MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE144843 GSE144844 SMARCA2 SMARCA4 knockdown 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195663 cisplatin 7 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE173116 GSE173118 ML-7 3 v 5 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228106 3 V 5 PACLITAXEL HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE120612 6 V 5 ETOPOSIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE192771 2 V 0 SORAFENIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE210655 1 V 0 CISPLATIN MOUSE 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.