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CFDE Workbench

AHI1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:AHI-1, AHI1, Abelson helper integration site 1, ENTREZ:54806, HGNC:21575, JBTS3, MIM:608894, NM_001134830, NM_001134831, NM_001134832, NM_001350503, NM_001350504, NM_017651, NP_001128302, NP_001128303, NP_001128304, NP_001337432, NP_001337433, NP_060121, ORF1, XM_011535910, XM_011535911, XM_017010978, XM_017010979, XM_017010980, XM_017010981, XM_017010984, XM_024446479, XM_024446480, XP_011534212, XP_011534213, XP_016866467, XP_016866468, XP_016866469, XP_016866470, XP_016866473, XP_024302247, XP_024302248, XR_001743479, XR_001743480, XR_001743481, XR_001743482, XR_001743483, XR_001743484, XR_001743485, XR_001743486, XR_001743487, XR_001743488, XR_001743489, XR_001743490, XR_002956286, XR_002956287, dJ71N10.1
Omim:OMIM:608894
Id:ENSG00000135541
Hgnc:HGNC:21575
Entrez:54806
Ensembl:ENSG00000135541
Description:Abelson helper integration site 1
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View AHI1'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 AHI1.

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 AHI1.

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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 AHI1.

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 AHI1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE135350 2 V 4 DEXAMETHASONE 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

GSE102757 1 V 0 PANOBINOSTAT MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE135350 3 V 5 DEXAMETHASONE HUMAN UP

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

GSE76425 0 V 12 LENALIDOMIDE 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

GSE119978 GSE180930 cisplatin 6 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE184210 0 V 1 GLUCAGON MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE193993 SSTR2 knockout 5 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE135350 2 V 4 DEXAMETHASONE 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

    GSE102757 1 V 0 PANOBINOSTAT MOUSE UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE135350 3 V 5 DEXAMETHASONE HUMAN UP

    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

    GSE76425 0 V 12 LENALIDOMIDE 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

    GSE119978 GSE180930 cisplatin 6 v 7 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE184210 0 V 1 GLUCAGON MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE193993 SSTR2 knockout 5 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.