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CFDE Workbench

COL7A1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:COL7A1, EBD1, EBDCT, EBR1, ENTREZ:1294, HGNC:2214, MIM:120120, NDNC8, NM_000094, NP_000085, XM_017005688, XM_017005689, XM_017005690, XM_017005691, XM_017005692, XP_016861177, XP_016861178, XP_016861179, XP_016861180, XP_016861181, XR_001740003, XR_001740004, XR_001740005, XR_001740006, XR_001740007, XR_001740008, XR_001740009, collagen type VII alpha 1 chain
Omim:OMIM:120120
Id:ENSG00000114270
Hgnc:HGNC:2214
Entrez:1294
Ensembl:ENSG00000114270
Description:collagen type VII alpha 1 chain
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [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 COL7A1'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 COL7A1.

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 COL7A1.

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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 COL7A1.

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 COL7A1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE218097 SOX10 overexpression glial cell 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE99875 everolimus 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE239844 crizotinib 11 v 9 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

GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE164874 prednisolone muscle organ 5 v 9 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE214505 AKR1B1 knockdown A-549 3 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE218097 SOX10 overexpression glial cell 2 v 1 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE214505 AKR1B1 knockdown A-549 3 v 2 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE99875 everolimus 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE239844 crizotinib 11 v 9 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

    GSE118816 Myo1c knockdown podocyte 0 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE164874 prednisolone muscle organ 5 v 9 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

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    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.