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FANCA (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:2175, FA complementation group A, FA, FA-H, FA1, FAA, FACA, FAH, FANCA, FANCH, HGNC:3582, MIM:607139, NM_000135, NM_001018112, NM_001286167, NM_001351830, NP_000126, NP_001018122, NP_001273096, NP_001338759
Omim:OMIM:607139
Id:8c3b9f76-db22-5a47-99f6-b39edf8a967b
Hgnc:HGNC:3582
Entrez:2175
Ensembl:ENSG00000187741
Description:FA complementation group A
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]

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Data Distillery
CFDE DD-Knowledge Graph

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

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 FANCA.

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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 FANCA.

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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 FANCA.

Results found

Linked to

 

Label

Description

 

Phenotype

Hypospadias

Phenotype (Entity type)

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

Gene Set

GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE233679 14 V 13 NICOTINAMIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE114883 romidepsin T cell 1 v 2 human up

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

GSE228727 2 V 1 DAPAGLIFLOZIN 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

GSE261563 CX-5461 6 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE220806 1 V 3 PROGESTERONE HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE95077 1 V 2 AMILORIDE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

  • Phenotype

    Hypospadias

    Phenotype (Entity type)

    Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

  • Gene Set

    GSE102505 5 V 0 TUNICAMYCIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE233679 14 V 13 NICOTINAMIDE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE114883 romidepsin T cell 1 v 2 human up

    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

    GSE228727 2 V 1 DAPAGLIFLOZIN 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

    GSE261563 CX-5461 6 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE220806 1 V 3 PROGESTERONE HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE95077 1 V 2 AMILORIDE 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.