PXD005090

PXD005090 is an original dataset announced via ProteomeXchange.

Dataset Summary

Title	Assessing actin-pathway interactions in variants identified in patients with ocular coloboma
Description	We used whole exome sequence to identify de novo mutations in patients with ocular coloboma. Three of these encoded actin pathway components, ACTG1, TWF1 and LCP1. Mass spectrometry-based interactomes of wild-type and mutant proteins were performed to reveal altered functional interactions for all three variants.
HostingRepository	PRIDE
AnnounceDate	2017-05-24
AnnouncementXML	Submission_2017-05-24_06:42:16.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD005090
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	Dominic Kurian
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	Oxidation; Oxidation; Carbamidomethyl
Instrument	micrOTOF-Q II

Dataset History

Revision	Datetime	Status	ChangeLog Entry
0	2016-10-03 06:40:08	ID requested
⏵ 1	2017-05-24 06:42:17	announced

Publication List

Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG, FitzPatrick DR, A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Hum Mutat, 38(8):942-946(2017) [pubmed]

Rainger J, Williamson KA, Soares DC, Truch J, Kurian D, Gillessen-Kaesbach G, Seawright A, Prendergast J, Halachev M, Wheeler A, McTeir L, Gill AC, van Heyningen V, Davey MG, FitzPatrick DR, A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Hum Mutat, 38(8):942-946(2017) [pubmed]

Keyword List

curator keyword: Biomedical
submitter keyword: GFP-TRAP
actin
ACTG1
TWF1
LCP1
HEK293

curator keyword: Biomedical

submitter keyword: GFP-TRAP

actin

ACTG1

TWF1

LCP1

HEK293

Contact List

Dominic Kurian
contact affiliation	The Roslin Institute, University of Edinburgh
contact email	dominic.kurian@roslin.ed.ac.uk
lab head
Dominic Kurian
contact affiliation	University of Edinburgh
contact email	dominic.kurian@roslin.ed.ac.uk
dataset submitter

Full Dataset Link List

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2017/05/PXD005090
PRIDE project URI

Dataset FTP location
NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2017/05/PXD005090

PRIDE project URI

Repository Record List

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