mutLBSgeneDB |
Gene summary for COL10A1 |
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Basic gene Info. | Gene symbol | COL10A1 |
Gene name | collagen, type X, alpha 1 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 6q21-q22 | |
Type of gene | protein-coding | |
RefGenes | NM_000493.3, | |
Description | Schmid metaphyseal chondrodysplasiacollagen X, alpha-1 polypeptidecollagen alpha-1(X) chain | |
Modification date | 20141207 | |
dbXrefs | MIM : 120110 | |
HGNC : HGNC | ||
Ensembl : ENSG00000123500 | ||
HPRD : 00357 | ||
Protein | UniProt: Q03692 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_COL10A1 | |
BioGPS: 1300 | ||
Pathway | NCI Pathway Interaction Database: COL10A1 | |
KEGG: COL10A1 | ||
REACTOME: COL10A1 | ||
Pathway Commons: COL10A1 | ||
Context | iHOP: COL10A1 | |
ligand binding site mutation search in PubMed: COL10A1 | ||
UCL Cancer Institute: COL10A1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
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GO ID | GO Term | PubMed ID |
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Ligand binding site mutations for COL10A1 |
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LBS | AAchange of nsSNV | Cancer type | # samples | D626 | T624P | STAD | 1 |
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 COL10A1 |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
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![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | D626 | T624P | -1.2070155 |
(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) |
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Differential gene expression and gene-gene network for COL10A1 |
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Phenotype information for COL10A1 |
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Disease ID | Disease name | # PubMed | Association type |
umls:C0265289 | Metaphyseal chondrodysplasia Schmid type | 4 | Biomarker, GeneticVariation |
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Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for COL10A1 |
![]() 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. |
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Drug status | DrugBank ID | Name | Type | Drug structure |
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Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1gr3 | A | D626 |
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Conservation information for LBS of COL10A1 |
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LBS | AA sequence | # species | Species | D626 | VMYTYDEYTKG | 1 | Homo sapiens | D626 | VMYTYDEYIKG | 1 | Bos taurus | D626 | TMYTYDEYSKG | 1 | Mus musculus | D634 | TKGYLDQASGS | 1 | Homo sapiens | D634 | IKGYLDQASGS | 1 | Bos taurus | D634 | SKGYLDQASGS | 1 | Mus musculus | E627 | MYTYDEYTKGY | 1 | Homo sapiens | E627 | MYTYDEYIKGY | 1 | Bos taurus | E627 | MYTYDEYSKGY | 1 | Mus musculus |
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