Find research datasets worth reusing
Search datasets from major research repositories and use ShareScore to quickly assess how well each record supports discovery, access, and reuse.
32
datasets available to search
ShareScore release 0.9.0
Dataset results
32 results for “Hotspot mutations”
Hotspot propensity across mutational processes
<p>Mutational hotspots identified by HotspotFinder from 49 cancer types analysed in: Arnedo-Pac C, Muiños F, Gonzalez-Perez A, Lopez-Bigas N. Hotspot propensity across mutational processes. Mol Syst Biol. 2023:1-22. doi: <a href="https://doi.org/10.1038/s44320-023-00001-w">doi.org/10.1038/s44320-023-00001-w</a></p> <p>Hotspots have been computed using somatic mutations in each cancer type, after excluding those overlapping cancer driver elements. HotspotFinder has been run with a threshold of 2 mutated samples per hotspot and using alternate specific mutations. For additional details, please check Materials and Methods and Appendix Note 1 in our manuscript.</p> <p>HotspotFinder code is available at: <a href="https://bitbucket.org/bbglab/hotspotfinder">bitbucket.org/bbglab/hotspotfinder</a></p> <p>Source code to reproduce this data can be found at: <a href="https://github.com/bbglab/hotspot_propensity">github.com/bbglab/hotspot_propensity</a></p> <p>Cancer type identifiers are listed as follows:</p> <ul> <li>Acute Lymphoblastic Leukemia (ALL)</li> <li>Acute Myeloid Leukemia (AML)</li> <li>Adrenocortical Carcinoma (ACC)</li> <li>Anal Cancer (AN)</li> <li>Basal Cell Carcinoma (BCC)</li> <li>Biliary Tract (BILIARY_TRACT)</li> <li>Bladder/Urinary Tract (BLADDER_URI)</li> <li>Bone/Soft Tissue (BONE_SOFT_TISSUE)</li> <li>Bowel (BOWEL)</li> <li>CNS/Brain (BRAIN)</li> <li>Cervix (CERVIX)</li> <li>Colorectal Adenocarcinoma (COADREAD)</li> <li>Cutaneous Melanoma (SKCM)</li> <li>Cutaneous Squamous Cell Carcinoma (CSCC)</li> <li>Endometrial Carcinoma (UCEC)</li> <li>Ependymoma (EPM)</li> <li>Esophageal cancer (ES)</li> <li>Esophagus/Stomach cancers (ESOPHA_STOMACH)</li> <li>Glioblastoma Multiforme (GBM)</li> <li>Head and Neck (HEAD_NECK)</li> <li>High-Grade Glioma NOS (HGGNOS)</li> <li>Invasive Breast Carcinoma (BRCA)</li> <li>Kidney (KIDNEY)</li> <li>Liver (LIVER)</li> <li>Low-Grade Glioma NOS (LGGNOS)</li> <li>Lung (LUNG)</li> <li>Lung Neuroendocrine Tumor (LNET)</li> <li>Lymphoid Neoplasm (LNM)</li> <li>Medulloblastoma (MBL)</li> <li>Myeloid Neoplasm (MNM)</li> <li>Myeloproliferative Neoplasms (MPN)</li> <li>Neuroblastoma (NBL)</li> <li>Non-Hodgkin Lymphoma (NHL)</li> <li>Non-Small Cell Lung Cancer (NSCLC)</li> <li>Oligodendroglioma (ODG)</li> <li>Ovarian Cancer (OV)</li> <li>Pan-cancer (PANCANCER)</li> <li>Pancreas (PANCREAS)</li> <li>Pilocytic Astrocytoma (PAST)</li> <li>Pleural Mesothelioma (PLMESO)</li> <li>Prostate (PROSTATE)</li> <li>Retinoblastoma (RBL)</li> <li>Skin (SKIN)</li> <li>Small Bowel Cancer (SBC)</li> <li>Small Bowel Neuroendocrine Tumor (SBNET)</li> <li>Small Cell Lung Cancer (SCLC)</li> <li>Stomach cancer (ST)</li> <li>Thyroid (THYROID)</li> <li>Vulva (VULVA)</li> </ul>
datset related to article "THE NOVEL I213S MUTATION IN PSEN1 GENE IS LOCATED IN A HOTSPOT CODON ASSOCIATED WITH FAMILIAL EARLY-ONSET ALZHEIMER'S DISEASE"
<p><strong>Electropherogram of the proband psen1 exon 7</strong></p> <p><strong>ngs analysis of causal and risk genes associated to dementia</strong></p>
Raw NGS Data for "Deep mutational scanning and machine learning reveal structural and molecular rules governing allosteric hotspots in homologous proteins"
<p>This directory contains relevant fastq files used for deep sequencing analysis in the publication “Deep mutational scanning and machine learning reveal structural and molecular rules governing allosteric hotspots in homologous proteins”. </p> <p>Fastq files are provided for presorted, uninduced and induced populations from DMS experiments of four homologs (TtgR, TetR, RolR, and MphR). Three replicates were performed for each sample.</p> <p>Data analysis of this deep sequencing data was performed using custom scripts, which are described in the methods section of the publication.</p>
Data from: Hotspot mutations and ColE1 plasmids contribute to the fitness of Salmonella Heidelberg in poultry litter
Salmonella enterica subsp. enterica serovar Heidelberg (S. Heidelberg) is a clinically-important serovar linked to food-borne illness, and commonly isolated from poultry. Investigations of a large, multistate outbreak in the USA in 2013 identified poultry litter (PL) as an important extra-intestinal environment that may have selected for specific S. Heidelberg strains. Poultry litter is a mixture of bedding materials and chicken excreta that contains chicken gastrointestinal (GI) bacteria, undigested feed, feathers, and other materials of chicken origin. In this study, we performed a series of controlled laboratory experiments which assessed the microevolution of two S. Heidelberg strains (SH-2813 and SH-116) in PL previously used to raise 3 flocks of broiler chickens. The strains are closely related at the chromosome level, differing from the reference genome by 109 and 89 single nucleotide polymorphisms/InDels, respectively. Whole genome sequencing was performed on 86 isolates recovered after 0, 1, 7 and 14 days of microevolution in PL. Only strains carrying an IncX1 (37kb), 2 ColE1 (4 and 6kb) and 1 ColpVC (2kb) plasmids survived more than 7 days in PL. Competition experiments showed that carriage of these plasmids was associated with increased fitness. This increased fitness was associated with an increased copy number of IncX1 and ColE1 plasmids. Further, all Col plasmid-bearing strains had hotspot mutations in 37 loci on the chromosome and in 3 loci on the IncX1 plasmid. Additionally, we observed a decrease in susceptibility to tobramycin, kanamycin, gentamicin, neomycin and fosfomycin for Col plasmid-bearing strains. Our study demonstrates how positive selection from poultry litter can change the evolutionary path of S. Heidelberg.
Supplementary data for 'An extreme mutational hotspot in nlpD depends on transcriptional induction of rpoS'
<p>This zip file contains raw data and calculations for each figure of the manuscript "An extreme mutational hotspot in <em>nlpD </em>depends on transcriptional induction of <em>rpoS</em>". Please refer to the README tab of each excel file, or the README txt files in each folder, for a description of each set of data. </p>
Data from: Hotspot mutations and ColE1 plasmids contribute to the fitness of Salmonella Heidelberg in poultry litter
Open the record for dataset details and reuse information.
AlphaFold2 Modeling and Molecular Dynamics Simulations of the Conformational Ensembles for the SARS-CoV-2 Spike Omicron JN.1, KP.2 and KP.3 Variants : Mutational Profiling of Binding Energetics Reveals Epistatic Drivers of the ACE2 Affinity and Escape Hotspots of Antibody Resistance
Open the record for dataset details and reuse information.
Cancer associated SF3B1 hotspot mutations induce cryptic 3' splice site selection through use of a different branch point
GEO Series GSE72790. Mus musculus; Homo sapiens. 72 samples. Type: Expression profiling by high throughput sequencing.
A functional genomics process for systematic dissection and mutation-specific target discovery in breast cancer PIK3CA hotspot mutations [CRISPR KO Screen Data]
GEO Series GSE248041. Homo sapiens. 6 samples. Type: Other.
Human Dicer hotspot mutation induces both loss and gain of miRNA function [sRNA-seq]
GEO Series GSE274853. Homo sapiens. 8 samples. Type: Non-coding RNA profiling by high throughput sequencing.
The lipodystrophic hotspot lamin A p.R482W mutation deregulates the mesodermal inducer T/Brachyury and early vascular differentiation gene networks
GEO Series GSE98675. Homo sapiens. 14 samples. Type: Expression profiling by high throughput sequencing; Genome binding/occupancy profiling by high throughput sequencing.
Hotspot mutations induce metabolic reprogramming and vulnerability to serine deprivation
GEO Series GSE134475. Homo sapiens. 8 samples. Type: Expression profiling by high throughput sequencing.
Human Dicer hotspot mutation induces both loss and gain of miRNA function [iCLIP]
GEO Series GSE274851. Homo sapiens. 6 samples. Type: Other.
A functional genomics process for systematic dissection and mutation-specific target discovery in breast cancer PIK3CA hotspot mutations [RNA-seq]
GEO Series GSE247819. Homo sapiens. 9 samples. Type: Expression profiling by high throughput sequencing.
Human Dicer hotspot mutation induces both loss and gain of miRNA function [RNA-seq]
GEO Series GSE274849. Homo sapiens. 6 samples. Type: Expression profiling by high throughput sequencing.
Pathogenic DICER1 RNase IIIb Hotspot Mutation Induces 3p-miRNA Gain-of-Function via Argonaute Strand Switch [CLASH]
GEO Series GSE279636. Mus musculus. 6 samples. Type: Other.
Pathogenic DICER1 RNase IIIb Hotspot Mutation Induces 3p-miRNA Gain-of-Function via Argonaute Strand Switch [RNA-seq]
GEO Series GSE279645. Mus musculus. 18 samples. Type: Expression profiling by high throughput sequencing.
Elevated pyrimidine dimer formation at distinct genomic bases underlies promoter mutation hotspots in UV-exposed cancers
GEO Series GSE119249. Homo sapiens. 5 samples. Type: Other.
Evidence supporting a dominant negative mechanism for DNMT3A hotspot mutation-mediated leukemic cell transformation
GEO Series GSE130094. Homo sapiens. 35 samples. Type: Methylation profiling by genome tiling array.
The Chinese Mutation Hotspot of ENaC Causing Liddle's Syndrome and the Association of ENaC Variations and Hypertension
ClinicalTrials.gov study NCT00448162. IPD Sharing: Not stated. Countries: 1. Publications: 0.
ScienceDex guides
Understand access before you commit
These curated guides explain access requirements, typical timelines, costs, and reuse considerations for widely used research datasets.
Allen Brain Atlas
Allen Brain Atlas is an Allen Institute collection of brain map atlases, datasets, APIs, and analysis tools covering mouse, human, and non-human primate brain resources.
Annotated Behaviour and Observability Dataset (ABODe)
ABODe is a University of Edinburgh DataShare dataset for behavior classification in group-housed mice using home-cage video, identities, bounding boxes, ground-plate positions, and annotator labels.
DANDI Archive for NWB datasets
DANDI is a BRAIN Initiative archive for publishing and sharing neurophysiology data, including electrophysiology, optophysiology, and behavioral data packaged as NWB and related standards.
International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.