PXD063836-1

PXD063836 is an original dataset announced via ProteomeXchange.

Title	Analysis of neuropsychiatric risk gene isoforms in the brain
Description	Neuropsychiatric disorders are highly complex conditions and the risk of developing a disorder has been tied to hundreds of genomic variants that alter the expression and/or products (isoforms) made by risk genes. However, how these genes contribute to disease risk and onset through altered expression and RNA splicing is not well understood. Here we show our current understanding of gene isoforms is far from complete and reveal the precise splicing profiles of neuropsychiatric disorder risk genes. Combining our new bioinformatic pipeline IsoLamp with nanopore long-read amplicon sequencing, we deeply profiled the RNA isoform repertoire of 31 high-confidence neuropsychiatric disorder risk genes in human brain. We show most risk genes are more complex than previously reported, identifying 443 novel isoforms and 28 novel exons, including isoforms which alter protein domains, and genes such as ATG13 and GATAD2A where most expression was from previously undiscovered isoforms. The greatest isoform diversity was present in the schizophrenia risk gene ITIH4. Mass spectrometry of brain protein isolates confirmed translation of a novel exon skipping event in ITIH4, suggesting a new regulatory mechanism for this gene in brain
HostingRepository	PRIDE
AnnounceDate	2025-07-25
AnnouncementXML	Submission_2025-07-24_17:53:35.280.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Benjamin Parker
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2025-05-10 13:37:35	ID requested
⏵ 1	2025-07-24 17:53:35	announced

Dataset with its publication pending

submitter keyword: brain,splicing

Benjamin Parker
contact affiliation	The University of Melbourne
contact email	ben.parker@unimelb.edu.au
lab head
Benjamin Parker
contact affiliation	The University of Melbourne
contact email	ben.parker@unimelb.edu.au
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD063836
     1. Label: PRIDE project
     2. Name: Analysis of neuropsychiatric risk gene isoforms in the brain