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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

H-InvDB in 2013: an omics study platform for human functional gene and transcript discovery.

Jun-Ichi Takeda¹, Chisato Yamasaki, Katsuhiko Murakami

¹Integrated Database and Systems Biology Team, Biomedicinal Information Research Center, National Institute of Advanced Industrial Science and Technology, Aomi 2-4-7, Koto-ku, Tokyo 135-0064, Japan.

Nucleic Acids Research

|December 1, 2012

Summary

The H-InvDB human gene database now includes over 19,000 unique genes, with 233 newly identified protein functions and 11 Mendelian disorder genes. This resource aids in discovering new targets for medical care and drug development.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Published on: August 15, 2019

Area of Science:

Genomics
Proteomics
Bioinformatics

Background:

H-InvDB is a comprehensive human gene database established in 2004.
The latest version, H-InvDB 8.0, maps 244,709 human complementary DNA sequences to the hg19 reference genome.
It identifies 43,829 gene loci, including non-protein-coding ones.

Purpose of the Study:

To present the updated H-InvDB version 8.0.
To highlight novel protein-coding genes and their functions.
To enhance proteomic information and introduce a protein complex subdatabase.

Main Methods:

Mapping of human complementary DNA to the hg19 reference genome.
Identification and annotation of gene loci.
Comparative analysis against RefSeq and Ensembl databases.
Integration of proteomic data and creation of a protein complex subdatabase.

Main Results:

Identification of 43,829 gene loci, with 35,631 potential protein-coding genes.
Discovery of 19,309 genes unique to H-InvDB, not found in RefSeq or Ensembl.
Annotation of 233 previously unknown protein functions among unique H-InvDB genes.
Identification of 11 known Mendelian disorder genes.
Enhanced proteomic information and a new Protein Complex Database.

Conclusions:

H-InvDB 8.0 is a valuable resource for human gene and protein information.
Unique genes within H-InvDB hold potential for discovering biologically functional genes.
The database serves as a crucial resource for identifying novel targets in medical care and drug development.