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mutLBSgeneDB |
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| Gene summary for CHD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CHD1 |
| Gene name | chromodomain helicase DNA binding protein 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 5q15-q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270.2, | |
| Description | ATP-dependent helicase CHD1CHD-1chromodomain-helicase-DNA-binding protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602118 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000153922 | ||
| HPRD : 03668 | ||
| Vega : OTTHUMG00000162744 | ||
| Protein | UniProt: O14646 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHD1 | |
| BioGPS: 1105 | ||
| Pathway | NCI Pathway Interaction Database: CHD1 | |
| KEGG: CHD1 | ||
| REACTOME: CHD1 | ||
| Pathway Commons: CHD1 | ||
| Context | iHOP: CHD1 | |
| ligand binding site mutation search in PubMed: CHD1 | ||
| UCL Cancer Institute: CHD1 | ||
| 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 |
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| Ligand binding site mutations for CHD1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W322 | W322L | LUAD | 1 | T331 | W332S | LUSC | 1 | H329 | H329R | 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 CHD1 |
| 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 |
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| 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 | W322 | W322L | -1.3289925 | T331 | W332S | -1.026393 | H329 | H329R | -0.94167972 |
| (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 CHD1 from PDB |
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| Differential gene expression and gene-gene network for CHD1 |
| 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 CHD1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHD1 |
| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00445 | Epirubicin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CHD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL) | 4nw2 | C | W322 H329 | III | Peptide ligand (THR,SER,ARG,ARG,LYS,ARG,ALA) | 5afw | A | W322 H329 | III | Peptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL) | 4nw2 | A | W322 H329 T331 | III | Peptide ligand (ARG,THR,ALA,ARG,SER,LYS,VAL) | 4o42 | A | W322 H329 T331 |
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| Conservation information for LBS of CHD1 |
| Multiple alignments for O14646 in multiple species |
| LBS | AA sequence | # species | Species | A290 | KGATGATTTIY | 2 | Homo sapiens, Mus musculus | A290 | TSLEEGKVLEK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A290 | EGHDG------ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A290 | ADAQD------ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D408 | AAGYPD--YYC | 1 | Homo sapiens | D408 | AAGLPD--YYC | 1 | Mus musculus | D408 | EDGTSQLQYLV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D408 | SDGSVE--YLV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D408 | EEGKTE--YFV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D425 | ECSWEDGALIS | 2 | Homo sapiens, Mus musculus | D425 | EATWENATDIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D425 | FCTWEASSIIE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D425 | NCTWEDADVIY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E272 | EEEEFETIERF | 1 | Homo sapiens | E272 | EDEEFETIERV | 1 | Mus musculus | E272 | QPEDFHGIDIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E272 | EPEDTRAIDVV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E272 | EEEYEPIIDFV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E424 | SECSWEDGALI | 2 | Homo sapiens, Mus musculus | E424 | DEATWENATDI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | E424 | DFCTWEASSII | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E424 | DNCTWEDADVI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G324 | LIKWKGWSHIH | 2 | Homo sapiens, Mus musculus | G324 | LIKWTDESHLH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G324 | LIKWVNFSHLH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G324 | LIKWQEVSHLH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H329 | GWSHIHNTWET | 2 | Homo sapiens, Mus musculus | H329 | DESHLHNTWET | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H329 | NFSHLHCTWEP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H329 | EVSHLHNTWED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K431 | GALISKKFQAC | 1 | Homo sapiens | K431 | GALISKKFQTC | 1 | Mus musculus | K431 | ATDIVKLAPEQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K431 | SSIIEPIAATE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K431 | ADVIYSMAPNE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L428 | WEDGALISKKF | 2 | Homo sapiens, Mus musculus | L428 | WENATDIVKLA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L428 | WEASSIIEPIA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L428 | WEDADVIYSMA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T293 | TGATTTIYAVE | 2 | Homo sapiens, Mus musculus | T293 | EEGKVLEKTVP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T293 | DG--------- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T293 | QD--------- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T331 | SHIHNTWETEE | 2 | Homo sapiens, Mus musculus | T331 | SHLHNTWETYE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T331 | SHLHCTWEPYN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T331 | SHLHNTWEDYS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W322 | QYLIKWKGWSH | 2 | Homo sapiens, Mus musculus | W322 | -FLIKWTDESH | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W322 | -FLIKWVNFSH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W322 | -YLIKWQEVSH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W325 | IKWKGWSHIHN | 2 | Homo sapiens, Mus musculus | W325 | IKWTDESHLHN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W325 | IKWVNFSHLHC | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W325 | IKWQEVSHLHN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W423 | YSECSWEDGAL | 2 | Homo sapiens, Mus musculus | W423 | YDEATWENATD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W423 | YDFCTWEASSI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W423 | YDNCTWEDADV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y295 | ATTTIYAVEAD | 2 | Homo sapiens, Mus musculus | Y295 | ----------- | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y295 | GKVLEKTVPDL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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