mutLBSgeneDB |
Gene summary for EXO1 |
Gene summary |
Basic gene Info. | Gene symbol | EXO1 |
Gene name | exonuclease 1 | |
Synonyms | HEX1|hExoI | |
Cytomap | UCSC genome browser: 1q42-q43 | |
Type of gene | protein-coding | |
RefGenes | NM_003686.4, NM_006027.4,NM_130398.3, | |
Description | hExo1rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 606063 | |
HGNC : HGNC | ||
Ensembl : ENSG00000174371 | ||
HPRD : 06932 | ||
Vega : OTTHUMG00000039965 | ||
Protein | UniProt: Q9UQ84 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_EXO1 | |
BioGPS: 9156 | ||
Pathway | NCI Pathway Interaction Database: EXO1 | |
KEGG: EXO1 | ||
REACTOME: EXO1 | ||
Pathway Commons: EXO1 | ||
Context | iHOP: EXO1 | |
ligand binding site mutation search in PubMed: EXO1 | ||
UCL Cancer Institute: EXO1 | ||
Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID | GO:0000737 | DNA catabolic process, endonucleolytic | 10608837 | GO:0000738 | DNA catabolic process, exonucleolytic | 10608837 | GO:0006298 | mismatch repair | 14636568 |
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Ligand binding site mutations for EXO1 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R121 | R121P | LUAD | 1 | Q8 | I10M | LUAD | 1 | R96 | A98T | OV | 1 | D30,Y32 | T31A | STAD | 1 | D152 | A151V | STAD | 1 | K237 | A238S | UCEC | 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 EXO1 |
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. |
LBS | AAchange of nsSNV | Relative stability change | D30 | T31A | -1.5710203 | Y32 | T31A | -1.5710203 | Q8 | I10M | -1.0498495 | K237 | A238S | -0.87123861 | R121 | R121P | -0.75637435 | D152 | A151V | -0.64596158 | R96 | A98T | -0.28982653 |
(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 EXO1 from PDB |
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Differential gene expression and gene-gene network for EXO1 |
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) |
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Phenotype information for EXO1 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0009404 | Colorectal Neoplasms | 4 | Biomarker, GeneticVariation |
umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for EXO1 |
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 status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of EXO1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 3qeb | Z | D152 | MN | MANGANESE(2+) | 3qeb | Z | D30 D152 | NUC | Nucleic Acids | 3qeb | Z | K237 | NUC | Nucleic Acids | 3qe9 | Y | Q8 Y32 R121 | NUC | Nucleic Acids | 3qe9 | Z | Q8 Y32 R121 | NUC | Nucleic Acids | 3qe9 | Y | R121 K237 | NUC | Nucleic Acids | 3qe9 | Z | R121 K237 | NUC | Nucleic Acids | 3qea | Z | R121 K237 | NUC | Nucleic Acids | 3qeb | Z | Y32 D152 | NUC | Nucleic Acids | 3qea | Z | Y32 R96 |
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Conservation information for LBS of EXO1 |
Multiple alignments for Q9UQ84 in multiple species |
LBS | AA sequence | # species | Species | A236 | RGIGLAKACKV | 2 | Homo sapiens, Mus musculus | A236 | YGIGLGKACKL | 1 | Danio rerio | A41 | HKGAIACAEKL | 2 | Homo sapiens, Mus musculus | A41 | HKGAFSCAEKL | 1 | Danio rerio | D152 | APYEADAQLAY | 2 | Homo sapiens, Mus musculus | D152 | APYEADAQLAF | 1 | Danio rerio | D171 | AVITEDSDLLA | 2 | Danio rerio, Mus musculus | D171 | AIITEDSDLLA | 1 | Homo sapiens | D173 | ITEDSDLLAFG | 3 | Homo sapiens, Danio rerio, Mus musculus | D225 | ILSGCDYLSSL | 1 | Homo sapiens | D225 | ILSGCDYLQSL | 1 | Danio rerio | D225 | ILSGCDYLASL | 1 | Mus musculus | D30 | QVVAVDTYCWL | 1 | Homo sapiens | D30 | QTVAVDTYCWL | 1 | Danio rerio | D30 | QAVAVDTYCWL | 1 | Mus musculus | E170 | QAVITEDSDLL | 2 | Danio rerio, Mus musculus | E170 | QAIITEDSDLL | 1 | Homo sapiens | F58 | DRYVGFCMKFV | 2 | Homo sapiens, Mus musculus | F58 | DQYVSYCMKFV | 1 | Danio rerio | G232 | LSSLRGIGLAK | 1 | Homo sapiens | G232 | LQSLYGIGLGK | 1 | Danio rerio | G232 | LASLRGIGLAK | 1 | Mus musculus | G234 | SLRGIGLAKAC | 2 | Homo sapiens, Mus musculus | G234 | SLYGIGLGKAC | 1 | Danio rerio | H36 | TYCWLHKGAIA | 2 | Homo sapiens, Mus musculus | H36 | TYCWLHKGAFS | 1 | Danio rerio | I233 | SSLRGIGLAKA | 1 | Homo sapiens | I233 | QSLYGIGLGKA | 1 | Danio rerio | I233 | ASLRGIGLAKA | 1 | Mus musculus | I40 | LHKGAIACAEK | 2 | Homo sapiens, Mus musculus | I40 | LHKGAFSCAEK | 1 | Danio rerio | K185 | KKVILKMDQFG | 2 | Homo sapiens, Mus musculus | K185 | KKVILKMDKQG | 1 | Danio rerio | K237 | GIGLAKACKVL | 2 | Homo sapiens, Mus musculus | K237 | GIGLGKACKLL | 1 | Danio rerio | K37 | YCWLHKGAIAC | 2 | Homo sapiens, Mus musculus | K37 | YCWLHKGAFSC | 1 | Danio rerio | K85 | CTLPSKKEVER | 2 | Homo sapiens, Mus musculus | K85 | RNLPSKQEVEK | 1 | Danio rerio | L235 | LRGIGLAKACK | 2 | Homo sapiens, Mus musculus | L235 | LYGIGLGKACK | 1 | Danio rerio | L7 | GIQGLLQFIKE | 1 | Homo sapiens | L7 | GIQGLLQFIKD | 1 | Danio rerio | L7 | GIQGLLQFIQE | 1 | Mus musculus | Q4 | 3 | Homo sapiens, Danio rerio, Mus musculus | Q8 | IQGLLQFIKEA | 1 | Homo sapiens | Q8 | IQGLLQFIKDA | 1 | Danio rerio | Q8 | IQGLLQFIQEA | 1 | Mus musculus | R121 | RECFTRSINIT | 1 | Homo sapiens | R121 | RECFTRSVNIT | 1 | Danio rerio | R121 | RDCFARSINIT | 1 | Mus musculus | R231 | YLSSLRGIGLA | 1 | Homo sapiens | R231 | YLQSLYGIGLG | 1 | Danio rerio | R231 | YLASLRGIGLA | 1 | Mus musculus | R92 | EVERSRRERRQ | 2 | Homo sapiens, Mus musculus | R92 | EVEKSRRERRQ | 1 | Danio rerio | R95 | RSRRERRQANL | 1 | Homo sapiens | R95 | KSRRERRQANL | 1 | Danio rerio | R95 | RSRRERRQSNL | 1 | Mus musculus | R96 | SRRERRQANLL | 1 | Homo sapiens | R96 | SRRERRQANLQ | 1 | Danio rerio | R96 | SRRERRQSNLL | 1 | Mus musculus | S172 | VITEDSDLLAF | 2 | Danio rerio, Mus musculus | S172 | IITEDSDLLAF | 1 | Homo sapiens | T120 | ARECFTRSINI | 1 | Homo sapiens | T120 | ARECFTRSVNI | 1 | Danio rerio | T120 | ARDCFARSINI | 1 | Mus musculus | Y32 | VAVDTYCWLHK | 3 | Homo sapiens, Danio rerio, Mus musculus |
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