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Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain

Genome Research(2024)10.1101/gr.279415.124Source: DataRank Database

Mutational scanning of CRX classifies clinical variants and reveals biochemical properties of the transcriptional effector domain is a research paper published in Genome Research (2024). On theSindex it has a DataRank of 0.554. It has been cited 17 times, with 15 citing works in its 1-hop citation network.

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0.554DataRank · unranked

Scored on demand from live citation data

Deposits data Open Access17 citations · 15 citing works in its network

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Data availability

Repositories this paper deposited data in (declared in PubMed).

BioProjectGSE262060

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›Methodology & internals

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Pipeline:MetadataData-paper checkEnrichmentCitation networkScoring

Enrichment:Funding (16 grants)OA: bronzeTopics (23)IDs (PubMed, PMC)Annotations (3)

FAIR Checklist

Context only (not used in score)

Findable (1/2)

Has DOI

Accessible (1/2)

Open Access

Interoperable (0/2)

Reusable (0/3)

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DataRank Breakdown

Base Score 78%Citation Network 22%

Base Score Contribution

0.434

From this paper's citation signal

Citation Network Contribution

0.120

From 7 citing papers with measurable signal

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Top 5 citers driving the network score

Ranked by each citer's contribution to N(p) — log1p(C_q) divided by its reference count — out of 15 citers.

Making deep mutational scanning accessible: a cost-efficient approach to construct barcoded libraries for genes of any length
bioRxiv (Cold Spring Harbor Laboratory)20254 citations38 referencesContributes 0.042
Comprehensive degron mapping in human transcription factors
bioRxiv (Cold Spring Harbor Laboratory)20258 citations68 referencesContributes 0.032
MaveMD: A functional data resource for genomic medicine
medRxiv20254 citations80 referencesContributes 0.020
Protein activities driven by amino acid composition
Journal of Biological Chemistry20255 citations105 referencesContributes 0.017
Multiplexed assays of variant effect for clinical variant interpretation
Nature Reviews Genetics202529 citations249 referencesContributes 0.014

Authors (8)

David M. Granas,Jie Li ORCID,Zara Shariff,Stephen P. Plassmeyer ORCID,Alex S. Holehouse ORCID

Live enrichment

PubMed:39322280 PMC:PMC11529990

National Eye Institute

Grant: F30EY033640

National Institute of General Medical Sciences

Grant: R01GM092910

NHGRI NIH HHS

Grant: R21 HG012146

NCI NIH HHS

Grant: DP2 CA290639

NEI NIH HHS

Grant: R01 EY027784

NIGMS NIH HHS

Grant: R01 GM121755

National Cancer Institute

Grant: 1DP2CA290639

NCI NIH HHS

Grant: P30 CA091842

National Institutes of Health

Grant: 1R21HG012146-01

Cell-Based Assays For Deep Mutational Scans of Transcription Factors

National Institutes of Health

Grant: 1F30EY033640-01

Multiplex functional assay of variant effect in the retinal transcription factor CRX

National Institutes of Health

Grant: 5R01EY027784-04

CIS-REGULATORY MECHANISMS UNDERLYING RETINOPATHY

National Institutes of Health

Grant: 5R01GM121755-03

DISCOVERY OF DNA DETERMINANTS OF TRANSCRIPTION FACTOR BINDING AND FUNCTION IN PHO

National Institutes of Health

Grant: 5R01GM092910-08

PROMOTERS

National Institutes of Health

Grant: 1DP2CA290639-01

Uncovering the regulatory logic of gene expression encoded by disordered regions

Alvin J. Siteman Cancer Center Flow Cytometry Core

National Institutes of Health

bronzeLicense: CC BY NC ND

publisherhttp://genome.cshlp.org/content/34/10/1540.full.pdf

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC11529990/pdf/1540.pdf

repositoryhttps://digitalcommons.wustl.edu/oa_4/4340

Europe_PMChttps://europepmc.org/articles/PMC11529990

Europe_PMChttps://europepmc.org/articles/PMC11529990?pdf=render

Fields of Study

0303 health sciences03 medical and health sciences

MeSH Terms

HumansHomeodomain ProteinsTrans-ActivatorsAmino Acid SubstitutionDNA Mutational AnalysisMutationGenetic VariationProtein Domains

Keywords

Homeodomain ProteinsResearchDNA Mutational AnalysisICTS (Institute of Clinical and Translational Sciences)610Genetic VariationArticleProtein DomainsAmino Acid SubstitutionMutationMedicine and Health SciencesTrans-ActivatorsHumans