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SMARCAL1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:ENTREZ:50485, HARP, HGNC:11102, HHARP, MIM:606622, NM_001127207, NM_014140, NP_001120679, NP_054859, SMARCAL1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Omim:OMIM:606622
Id:ENSG00000138375
Hgnc:HGNC:11102
Entrez:50485
Ensembl:ENSG00000138375
Description:SNF2 related chromatin remodeling annealing helicase 1
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [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 SMARCAL1'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 SMARCAL1.

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 SMARCAL1.

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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 SMARCAL1.

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 SMARCAL1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE131887 5 V 2 DOXYCYCLINE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE146687 2 V 5 ERIBULIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE111247 temozolomide LN-308 2 v 13 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE114883 0 V 5 ROMIDEPSIN HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE236896 GSE237665 DNMT EZH2 inhibition 1 v 5 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE142210 4 V 7 PANOBINOSTAT HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE119369 H10 inhibition 3 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE220520 3 V 4 ETHANOL MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE228106 3 V 4 PACLITAXEL HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE147876 GSE147877 enzalutamide MR42D 4 v 6 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

    GSE146687 2 V 5 ERIBULIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE111247 temozolomide LN-308 2 v 13 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE114883 0 V 5 ROMIDEPSIN HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE236896 GSE237665 DNMT EZH2 inhibition 1 v 5 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE142210 4 V 7 PANOBINOSTAT HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE119369 H10 inhibition 3 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE220520 3 V 4 ETHANOL MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE228106 3 V 4 PACLITAXEL HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE147876 GSE147877 enzalutamide MR42D 4 v 6 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.