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 COL10A1
Gene summary
Basic gene Info.Gene symbolCOL10A1
Gene namecollagen, type X, alpha 1
CytomapUCSC genome browser: 6q21-q22
Type of geneprotein-coding
DescriptionSchmid metaphyseal chondrodysplasiacollagen X, alpha-1 polypeptidecollagen alpha-1(X) chain
Modification date20141207
dbXrefs MIM : 120110
Ensembl : ENSG00000123500
HPRD : 00357
ProteinUniProt: Q03692
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_COL10A1
BioGPS: 1300
PathwayNCI Pathway Interaction Database: COL10A1
Pathway Commons: COL10A1
ContextiHOP: COL10A1
ligand binding site mutation search in PubMed: COL10A1
UCL Cancer Institute: COL10A1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for COL10A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for COL10A1
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
(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 COL10A1 from PDB

Differential gene expression and gene-gene network for COL10A1
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 COL10A1 and the right PPI network was created from samples without mutations in the LBS of COL10A1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for COL10A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0265289Metaphyseal chondrodysplasia Schmid type4Biomarker, GeneticVariation

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

Pharmacological information for COL10A1
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 COL10A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of COL10A1
Multiple alignments for Q03692 in multiple species
LBSAA sequence# speciesSpecies
D626VMYTYDEYTKG1Homo sapiens
D626VMYTYDEYIKG1Bos taurus
D626TMYTYDEYSKG1Mus musculus
D634TKGYLDQASGS1Homo sapiens
D634IKGYLDQASGS1Bos taurus
D634SKGYLDQASGS1Mus musculus
E627MYTYDEYTKGY1Homo sapiens
E627MYTYDEYIKGY1Bos taurus
E627MYTYDEYSKGY1Mus musculus

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