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CFDE Workbench

NF1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:4763, HGNC:7765, MIM:613113, NF1, NFNS, NM_000267, NM_001042492, NM_001128147, NP_000258, NP_001035957, NP_001121619, VRNF, WSS, neurofibromin 1
Omim:OMIM:613113
Id:ENSG00000196712
Hgnc:HGNC:7765
Entrez:4763
Ensembl:ENSG00000196712
Description:neurofibromin 1
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View NF1'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 NF1.

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 NF1.

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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 NF1.

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 NF1.

Results found

Linked to

 

Label

Description

 

Phenotype

Ataxia

Phenotype (Entity type)

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

Gene Set

GSE233647 docetaxel UFERSA-PC3 DU145 2 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE156648 DOT1L overexpression IMR-90 2 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE245968 FOXA1 inhibition Receptors Steroid Acetyltransferases 3 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE213588 trametinib NF1 9 v 5 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE252944 AKT inhibition 3 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE161800 cisplatin A-549 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE142210 9 V 1 PANOBINOSTAT HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE128730 neratinib OVCAR-8 7 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE184892 trehalose fibroblast 7 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Phenotype

    Ataxia

    Phenotype (Entity type)

    Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of el...

  • Gene Set

    GSE233647 docetaxel UFERSA-PC3 DU145 2 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE156648 DOT1L overexpression IMR-90 2 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE245968 FOXA1 inhibition Receptors Steroid Acetyltransferases 3 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE213588 trametinib NF1 9 v 5 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE252944 AKT inhibition 3 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE161800 cisplatin A-549 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE142210 9 V 1 PANOBINOSTAT HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE128730 neratinib OVCAR-8 7 v 2 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE184892 trehalose fibroblast 7 v 3 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.