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Title: A protein interaction network of alternatively-spliced isoforms from brain links genetic risk factors for autism      
dateReleased:
01-30-2017
privacy:
information not avaiable
aggregation:
instance of dataset
dateCreated:
11-10-2014
refinement:
curated
ID:
doi:10.15154/1163516
creators:
Iakoucheva, LM
Corominas, R
Yang, X
Lin, GN
Kang, S
Shen, Y
Ghamsari, L
Broly, M
Rodriguez, M
Tam, S
Trigg, SA
Fan, C
Yi, S
Tasan, M
Lemmens, I
Kuang, X
Zhao, N
Malhotra, D
Michaelson, JJ
Vacic, V
Calderwood, MA
Roth, FP
Tavernier, J
Horvath, S
Salehi-Ashtiani, K
Korkin, D
Sebat, J
Hill, DE
Hao, T
Vidal, M
availability:
available
types:
other
description:
Increased risk for autism spectrum disorders (ASD) is attributed to hundreds of genetic loci. The convergence of ASD variants have been investigated using various approaches, including protein interactions extracted from the published literature. However, these datasets are frequently incomplete, carry biases and are limited to interactions of a single splicing isoform, which may not be expressed in the disease-relevant tissue. Here we introduce a new interactome mapping approach by experimentally identifying interactions between brain-expressed alternatively spliced variants of ASD risk factors. The Autism Spliceform Interaction Network reveals that almost half of the detected interactions and about 30% of the newly identified interacting partners represent contribution from splicing variants, emphasizing the importance of isoform networks. Isoform interactions greatly contribute to establishing direct physical connections between proteins from the de novo autism CNVs. Our findings demonstrate the critical role of spliceform networks for translating genetic knowledge into a better understanding of human diseases.
accessURL: https://doi.org/10.15154/1163516
storedIn:
NIMH Data Archives
qualifier:
not compressed
format:
HTML
accessType:
landing page
authentication:
none
authorization:
none
abbreviation:
NIH
homePage: http://www.nih.gov/
ID:
SCR:011417
name:
National Institutes of Health
abbreviation:
NIMH
homePage: http://www.nimh.nih.gov/
ID:
SCR:011431
name:
National Institute of Mental Health

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