mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for YTHDC1
Gene summary
Basic gene Info.Gene symbolYTHDC1
Gene nameYTH domain containing 1
SynonymsYT521|YT521-B
CytomapUCSC genome browser: 4q13.2
Type of geneprotein-coding
RefGenesNM_001031732.2,
NM_133370.2,
DescriptionYTH domain-containing protein 1putative splicing factor YT521splicing factor YT521-B
Modification date20141207
dbXrefs HGNC : HGNC
Ensembl : ENSG00000083896
HPRD : 11689
Vega : OTTHUMG00000129306
ProteinUniProt: Q96MU7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_YTHDC1
BioGPS: 91746
PathwayNCI Pathway Interaction Database: YTHDC1
KEGG: YTHDC1
REACTOME: YTHDC1
Pathway Commons: YTHDC1
ContextiHOP: YTHDC1
ligand binding site mutation search in PubMed: YTHDC1
UCL Cancer Institute: YTHDC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006376mRNA splice site selection20167602


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Ligand binding site mutations for YTHDC1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M438K437EKIRC1
N367S369CSTAD1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for YTHDC1
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
M438K437E-0.61797331
N367S369C-0.32746334
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for YTHDC1 from PDB

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Differential gene expression and gene-gene network for YTHDC1
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of YTHDC1 and the right PPI network was created from samples without mutations in the LBS of YTHDC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for YTHDC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for YTHDC1
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of YTHDC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4r3iAN367 M438


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Conservation information for LBS of YTHDC1
Multiple alignments for Q96MU7 in multiple species
LBSAA sequence# speciesSpecies
D476VKIGRDGQEIE3Homo sapiens, Mus musculus, Rattus norvegicus
E405IFSVRESGKFQ3Homo sapiens, Mus musculus, Rattus norvegicus
G474KPVKIGRDGQE3Homo sapiens, Mus musculus, Rattus norvegicus
I473HKPVKIGRDGQ3Homo sapiens, Mus musculus, Rattus norvegicus
K361RFFLIKSNNHE3Homo sapiens, Mus musculus, Rattus norvegicus
K472EHKPVKIGRDG3Homo sapiens, Mus musculus, Rattus norvegicus
L380GVWSTLPVNEK3Homo sapiens, Mus musculus, Rattus norvegicus
M434VLPAGMSAKML3Homo sapiens, Mus musculus, Rattus norvegicus
M438GMSAKMLGGVF3Homo sapiens, Mus musculus, Rattus norvegicus
N363FLIKSNNHENV3Homo sapiens, Mus musculus, Rattus norvegicus
N367SNNHENVSLAK3Homo sapiens, Mus musculus, Rattus norvegicus
P381VWSTLPVNEKK3Homo sapiens, Mus musculus, Rattus norvegicus
R404LIFSVRESGKF3Homo sapiens, Mus musculus, Rattus norvegicus
R475PVKIGRDGQEI3Homo sapiens, Mus musculus, Rattus norvegicus
S362FFLIKSNNHEN3Homo sapiens, Mus musculus, Rattus norvegicus
S378AKGVWSTLPVN3Homo sapiens, Mus musculus, Rattus norvegicus
V382WSTLPVNEKKL3Homo sapiens, Mus musculus, Rattus norvegicus
W377KAKGVWSTLPV3Homo sapiens, Mus musculus, Rattus norvegicus
W428GSPIHWVLPAG3Homo sapiens, Mus musculus, Rattus norvegicus


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