OPHN1 (Gene)

Organism:

Homo sapiens

Synonyms:ARHGAP41, ENTREZ:4983, HGNC:8148, MIM:300127, MRX60, NM_002547, NP_002538, OPHN1, OPN1, XM_005262270, XM_006724653, XM_011530961, XM_017029555, XP_005262327, XP_006724716, XP_011529263, XP_016885044, oligophrenin 1

Omim:OMIM:300127

Id:ENSG00000079482

Hgnc:HGNC:8148

Entrez:4983

Ensembl:ENSG00000079482

Description:oligophrenin 1

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View OPHN1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with OPHN1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using OPHN1.

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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 OPHN1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with OPHN1.

Results found

Linked to

	Label	Description
	GSE114492 GSE153671 KMT2D inhibition 6 v 8 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE150244 TRIM8 knockout 3 v 0 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE199688 artemisinin 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE96649 1 V 0 DEXAMETHASONE HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE138789 metformin 0 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE229973 3 V 2 CISPLATIN HUMAN DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE147662 3 V 1 NICOTINAMIDE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE182680,GSE182683 7 V 3 DEXAMETHASONE HUMAN UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE146358 dopamine 3 v 7 human dn Gene Set (Entity type)	A Gene Set from LINCS

GSE114492 GSE153671 KMT2D inhibition 6 v 8 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE150244 TRIM8 knockout 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE199688 artemisinin 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE203362 0 V 1 ENZALUTAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE96649 1 V 0 DEXAMETHASONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE138789 metformin 0 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE229973 3 V 2 CISPLATIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE147662 3 V 1 NICOTINAMIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE182680,GSE182683 7 V 3 DEXAMETHASONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE146358 dopamine 3 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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Community

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@CFDE Workbench 2026

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

Community

Resources

CFDE Workbench

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.