FlyBase:Human Disease Model Report

Last Updated: This document is in progress.

Introduction

General Information

Name	The valid full name that is used in FlyBase for the Human Disease Model.
FlyBase ID	The Primary FlyBase identifier number of the human disease, used to uniquely identify the Human Disease Model in the database.
Disease Ontology ID	Links to Disease Ontology term report in the Vocabularies tool.
Parent Disease	Links to parent entity, which describes general and shared information for the phenotypic series. Specific (child) diseases are usually defined by a single causative human gene.
OMIM	Links to relevant OMIM phenotype report.
Parent Disease DOID	Links to Disease Ontology term report for the Parent Disease in the Vocabularies tool.

Overview

The overview is a brief summary of the Drosophila human disease model. It includes the FlyBase disease name, the human gene implicated, the Drosophila ortholog(s) of the implicated human gene, the nature of available genetic reagents, whether the human gene has been transgenically expressed, the nature of transgenically expressed human constructs, whether the human gene has been used to heterologously rescue Drosophila loss-of-function phenotypes, the kinds of experiments that have been performed, and whether therapeutic agents have been screened. Date-stamped to reflect last curator update.

Disease Summary Information

Parent Disease Summary

Symptoms and phenotype

Describes symptoms and phenotypes shared by diseases in the relevant phenotypic series. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source.

Specific Disease Summary

OMIM report	Links to relevant OMIM phenotype report.
Symptoms and phenotype	Describes symptoms and phenotypes characteristic of the disease. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source.
Genetics	Describes the genetics of the disease, including causative human gene, and pattern of inheritance. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source.
Cellular phenotype and pathology	Describes the cellular phenotype and pathology characteristic of the disease. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source.
Molecular information	Describes molecular information relevant to the disease, including information about the function of the causative gene, molecular information about mutations in the causative gene, and/or molecular information about mutant isoforms of the causative protein. Entry includes links to outside source, and is date-stamped as to when a FlyBase curator last consulted the source.
External links	Links to external resources providing additional background concerning the disease.
Disease synonyms	A listing of other names, abbreviations, acronyms and terms that have been used to refer to the disease.

Related Diseases

Related human health report(s)

Links to the Report(s) of disease(s) that are related to the disease that is the subject of a Human Disease Model Report, but is not a member of the same phenotypic series. For example, the diseases could be related by having the same causative human gene.

Related Specific Diseases

OMIM phenotypic series

Links to relevant OMIM phenotypic series.

A table that consists of four columns:

Disease - Consists of OMIM symbol, links to OMIM phenotype report.

Associated Human gene(s) - Consists of OMIM symbol, links to OMIM genotype report.

Drosophila model - Consists of valid full name that is used in FlyBase for the disease, links to Human Disease Model Report.

Human transgene in Drosophila - "y" or no entry; has the human ortholog been transgenically expressed in flies.

Ortholog Information

Human gene (HGNC)	Links to HUGO Gene Nomenclature Committee (HGNC) symbol report.
Human gene (FlyBase)	Links to FlyBase Gene Report of human gene transgenically expressed in flies.
D. melanogaster ortholog (based on DIOPT)	Links to FlyBase Gene Report of Drosophila gene orthologous to HGNC gene. Orthology determined by DIOPT analysis resulting from the combined predictions of 10 ortholog prediction algorithms.
Comments on ortholog(s)	Comments on the nature of the orthology of the human to Drosophila gene(s), e.g., one to one, one to many, many to one, many to many, as defined by OrthoDB ortholog prediction.
Other mammalian ortholog(s) used	Links to FlyBase Gene Report of nonhuman mammalian gene transgenically expressed in flies.

D. melanogaster Gene Information

Drosophila gene(s) identified as ortholog(s) of causative human gene.

Molecular function (GO)	A summary of the Gene Ontology molecular function terms associated with the Drosophila gene orthologous to the causative human gene.
Cellular component (GO)	A summary of the Gene Ontology cellular component terms associated with the Drosophila gene orthologous to the causative human gene.
Comments on ortholog(s)	Comments on the nature of the orthology of the Drosophila to human gene(s), e.g., one to one, one to many, many to one, many to many, as defined by OrthoDB ortholog prediction. Comment concerning protein identity and similarity between Drosophila protein and the human ortholog; alignment determined by DIOPT analysis
Orthologs and Alignments from DRSC	Links to DIOPT tool; the H.sapiens (Human) link pre-fills the DIOPT interface with the Drosophila gene to search for its human ortholog.

Synthetic Gene(s) Used

Links to FlyBase Gene Report of artificial gene transgenically expressed in flies (e.g. a CAG repeat construct or hexanucleotide repeat construct). Such genes have the feature type engineered_foreign_region.

Experimental Findings

Summary

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Human Disease Wiki (Experimental Findings)

User Contributed Commentary

TBA

Description of Experiments

Mammalian transgenics: heterologous rescue	Free text description of use of human or other mammalian transgene to rescue loss-of-function phenotypes of a mutation in its orthologous Drosophila gene. A listing of genetic reagents used in experiments, linked to relevant allele reports, are appended to the end of the statement. Every statement is linked to a supporting reference report.
Mammalian transgenics: transgenic phenotype	Free text description of phenotypes resulting from tissue-specific expression of human or other mammalian transgene, with a focus on disease model relevance. A listing of genetic reagents used in experiments, linked to relevant allele reports, are appended to the end of the statement. Every statement is linked to a supporting reference report.
Mammalian transgenics: interactions	field text
Mammalian transgenics: pertubations and treatments	field text
Drosophila genes: relevant phenotypes	field text
Drosophila genes: interactions	field text
Drosophila genes: pertubations and treatments	field text
Drosophila recombinant constructs: phenotype or rescue	field text
Additional information	field text
Proposed mechanisms	field text

Summary of Physical Interactions

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Alleles Reported to Model Human Disease (Disease Ontology)

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Genetic Tools, Stocks and Reagents

Sources of Stocks

Bloomington Stock Center Disease Page

Links to relevant BDSC Human Disease Model page.

Selected mammalian transgenes

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

Selected Drosophila transgenes

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

RNAi constructs available

A table that consists of three columns:

Allele - field text

Transgene - field text

Publicly Available Stocks - field text

Selected Drosophila classical alleles

A table that consists of four columns:

Allele - field text

Allele class - field text

Mutagen - field text

Publicly Available Stocks - field text

References

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