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Gene: ENSG00000076242 |
Summary for MLH1 |
 Gene summary |
| Gene information | Ensembl ID | ENSG00000076242 | Gene symbol | MLH1 |
| Gene name | mutL homolog 1 | |
| HGNC | 7127 | |
| Entrez ID | 4292 | |
| Gene type | protein_coding | |
| Synonyms | MLH1|HNPCC|FCC2|HNPCC2|MLH-1 | |
| UniProtAcc | P40692 |
| Drugs associated with this gene(DrugBank). |
| Gene ID | Gene Symbol | Drug ID | Drug Name | Drug Type |
| Cancer therapeutic drugs associated with this gene(NCI). |
| Gene ID | Gene Name | Drug ID | Drug Name | Drug Type | Cancer |
Top |
Structure and expression level for MLH1 |
| AS events and RNA A-to-I editing events of the gene in TCGA based on Genvode V22 structure. ∗For more information on exon skipping events please check the ExonskipDB database. ∗For more information on exon skipping events please check the CAeditome database. |
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| Landscape of gene expressions across multiple cancer types. |
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| Differentially expressed gene analysis between tumor male and tumor female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor male and normal male samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
| Differentially expressed gene analysis between tumor female and normal female samples. |
| Coding Name | Base Mean | log2FoldChange | lfcSE | Stat | P value | P.adjust Value | Cancer Type |
Top |
Sex-biased somatic mutation for MLH1 |
| ∗For more information on exon skipping events please check the ExonskipDB database. |
| Gene ID | Cancer Type | Hugo Symbol | Male | Female | pval | or | ci.up | ci.low | adjPval |
Top |
DNA methylation with beta values for MLH1 |
| Landscape of DNA methylation across multiple cancer types. |
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| Differentially expressed CpG sites between male tumor and female tumor patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| KIRC | cg02103401 | chr3:36991882 | CGI:chr3:36992737-36993865 | promoter | 4.20e-01 | 3.15e-01 | 5.62e+00 | 1.96e-08 | 1.70e-07 | 1.05e-01 |
| COAD | cg17641046 | chr3:36992982 | CGI:chr3:36992737-36993865 | promoter | 2.43e-01 | 1.40e-01 | 2.30e+00 | 2.16e-02 | 3.38e-02 | 1.03e-01 |
| STAD | cg17641046 | chr3:36992982 | CGI:chr3:36992737-36993865 | promoter | 2.44e-01 | 1.23e-01 | 3.22e+00 | 1.26e-03 | 5.11e-03 | 1.21e-01 |
| STAD | cg07101782 | chr3:36993004 | CGI:chr3:36992737-36993865 | promoter | 1.93e-01 | 7.63e-02 | 3.06e+00 | 2.23e-03 | 8.13e-03 | 1.16e-01 |
| STAD | cg03497419 | chr3:36993163 | CGI:chr3:36992737-36993865 | promoter | 2.29e-01 | 1.03e-01 | 2.57e+00 | 1.01e-02 | 2.36e-02 | 1.26e-01 |
| STAD | cg27586588 | chr3:36993170 | CGI:chr3:36992737-36993865 | promoter | 2.12e-01 | 9.31e-02 | 3.16e+00 | 1.58e-03 | 6.17e-03 | 1.19e-01 |
| SARC | cg24607398 | chr3:36992134 | CGI:chr3:36992737-36993865 | promoter | 4.54e-01 | 5.64e-01 | -3.07e+00 | 2.15e-03 | 6.24e-03 | -1.09e-01 |
| SARC | cg10990993 | chr3:36992141 | CGI:chr3:36992737-36993865 | promoter | 4.48e-01 | 5.58e-01 | -2.71e+00 | 6.63e-03 | 1.39e-02 | -1.10e-01 |
| Differentially expressed CpG sites between male tumor and male normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| LUSC | cg02103401 | chr3:36991882 | CGI:chr3:36992737-36993865 | promoter | 4.80e-01 | 3.55e-01 | 2.95e+00 | 3.14e-03 | 5.79e-03 | 1.25e-01 |
| KIRP | cg10990993 | chr3:36992141 | CGI:chr3:36992737-36993865 | promoter | 6.27e-01 | 4.04e-01 | 4.06e+00 | 4.86e-05 | 1.41e-04 | 2.24e-01 |
| Differentially expressed CpG sites between female tumor and female normal patients. |
| Cancer Type | CpG Site | Position | CpG Island | Position to Gene | ave1 | ave2 | wilcoxon.w | wilcoxon.p | padj | dBeta |
| BRCA | cg02103401 | chr3:36991882 | CGI:chr3:36992737-36993865 | promoter | 6.57e-01 | 3.77e-01 | 3.32e+00 | 8.93e-04 | 1.18e-03 | 2.80e-01 |
| BRCA | cg04726821 | chr3:36992300 | CGI:chr3:36992737-36993865 | promoter | 2.76e-01 | 1.18e-01 | 2.48e+00 | 1.31e-02 | 1.45e-02 | 1.58e-01 |
| BRCA | cg11291081 | chr3:36992403 | CGI:chr3:36992737-36993865 | promoter | 2.14e-01 | 8.65e-02 | 3.82e+00 | 1.32e-04 | 1.94e-04 | 1.28e-01 |
| BRCA | cg21109167 | chr3:36992593 | CGI:chr3:36992737-36993865 | promoter | 2.29e-01 | 9.32e-02 | 3.27e+00 | 1.07e-03 | 1.39e-03 | 1.36e-01 |
| HNSC | cg24607398 | chr3:36992134 | CGI:chr3:36992737-36993865 | promoter | 5.31e-01 | 3.65e-01 | 2.52e+00 | 1.17e-02 | 2.02e-02 | 1.66e-01 |
| HNSC | cg10990993 | chr3:36992141 | CGI:chr3:36992737-36993865 | promoter | 5.04e-01 | 3.25e-01 | 2.60e+00 | 9.28e-03 | 1.79e-02 | 1.78e-01 |
| COAD | cg07101782 | chr3:36993004 | CGI:chr3:36992737-36993865 | promoter | 1.68e-01 | 1.08e-02 | 2.30e+00 | 2.12e-02 | 2.71e-02 | 1.57e-01 |
| COAD | cg16433211 | chr3:36993202 | CGI:chr3:36992737-36993865 | promoter | 1.24e-01 | 1.91e-02 | 2.76e+00 | 5.82e-03 | 1.06e-02 | 1.05e-01 |
| COAD | cg03497419 | chr3:36993163 | CGI:chr3:36992737-36993865 | promoter | 1.80e-01 | 2.96e-02 | 2.35e+00 | 1.90e-02 | 2.51e-02 | 1.51e-01 |
| COAD | cg21490561 | chr3:36993334 | CGI:chr3:36992737-36993865 | UTR,promoter,exon,gene body | 1.46e-01 | 3.55e-02 | 2.18e+00 | 2.90e-02 | 3.39e-02 | 1.11e-01 |
| COAD | cg13846866 | chr3:36993908 | CGI:chr3:36992737-36993865 | promoter,gene body | 1.69e-01 | 4.82e-02 | 2.28e+00 | 2.26e-02 | 2.84e-02 | 1.21e-01 |
| LIHC | cg21109167 | chr3:36992593 | CGI:chr3:36992737-36993865 | promoter | 1.57e-01 | 5.59e-02 | 2.73e+00 | 6.35e-03 | 9.71e-03 | 1.01e-01 |
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Exon skipping events with PSI in TCGA for MLH1 |
| ∗Please access ExonSkipDB for exon skipping annotation. |
| Landscape of exon skipping events across multiple cancer types. |
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| Differentially expressed exon skipping events between male tumor and female tumor patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between male tumor and male normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
| Differentially expressed exon skipping events between female tumor and female normal patients. |
| Cancer Type | Exon Skipping | ave.female_T | ave.female_N | wilcoxon.w | wilcoxon.p | padj | dPSI |
Top |
RNA A-to-I editing events in TCGA for MLH1 |
| ∗Please access CAeditome for RNA editing annotation. |
| Differentially expressed RNA editing events between male tumor and female tumor patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between male tumor and male normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Differentially expressed RNA editing events between female tumor and female normal patients. |
| Cancer Type | Transcript | Editing | ave.male_T | ave.female_T | wilcoxon.w | wilcoxon.p | p_adj | dFre |
| Protein coding RNA editing(s). |
| Editing Position | Variant Type | Gene Symbol | Transcript ID | NTchange | AAchange |
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Sex-biased TF-Gene network for MLH1 |
| TFs related to MLH1. ∗The female-biased TF-gene edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased TF-gene edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | TF | Target Gene | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| DLBC | SOX5 | MLH1 | 4.14e+00 | 9.81e-01 | 3.19e+00 | 6.77e-03 | Male-biased |
| READ | ZNF235 | MLH1 | 2.78e+00 | 1.92e-03 | 4.04e+00 | 9.82e-01 | Female-biased |
| READ | ZNF418 | MLH1 | 2.95e+00 | 2.26e-03 | 4.17e+00 | 9.85e-01 | Female-biased |
| MLH1 related gene. ∗Only the gene encode TF might with this result. ∗For more information please check Sex-biased TF-Coding gene network. |
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Sex-biased RBP-ES network for MLH1 |
| RBPs related to ES in MLH1. ∗The female-biased RBP-ES edges were identified if Female_Edge_threshold>0.98 and Male_Edge_threshold<=0.98. ∗The male-biased RBP-ES edges were identified if Male_Edge_threshold>0.98 and Female_Edge_threshold<=0.98. |
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| Cancer Type | RBP | Target ES | Male Edge Score | Male Edge Threshold | Female Edge Score | Female Edge Threshold | Type |
| UVM | HNRNPH2 | exon_skip_372614 | 8.18e+00 | 9.84e-01 | 7.87e+00 | 8.58e-03 | Male-biased |
| UVM | KHDRBS2 | exon_skip_372630 | 9.00e+00 | 8.20e-03 | 9.32e+00 | 9.88e-01 | Female-biased |
| UVM | LIN28A | exon_skip_372649 | 1.14e+01 | 9.96e-01 | 1.10e+01 | 2.71e-03 | Male-biased |
| THYM | SAMD4A | exon_skip_372626 | 8.70e+00 | 9.91e-01 | 8.28e+00 | 3.40e-03 | Male-biased |
| LUSC | SAMD4A | exon_skip_372626 | 8.78e+00 | 9.95e-01 | 7.95e+00 | 2.38e-04 | Male-biased |
| COAD | HNRNPH2 | exon_skip_372614 | 7.77e+00 | 4.50e-03 | 8.18e+00 | 9.88e-01 | Female-biased |
| DLBC | LIN28A | exon_skip_372649 | 1.11e+01 | 6.53e-04 | 1.17e+01 | 9.99e-01 | Female-biased |
| THCA | LIN28A | exon_skip_372649 | 1.15e+01 | 9.99e-01 | 1.10e+01 | 5.64e-04 | Male-biased |
| PCPG | BRUNOL6 | exon_skip_372646 | 7.16e+00 | 9.82e-01 | 6.78e+00 | 5.20e-03 | Male-biased |
| MESO | HNRNPH2 | exon_skip_372614 | 8.29e+00 | 9.86e-01 | 7.90e+00 | 6.67e-03 | Male-biased |
| MESO | SAMD4A | exon_skip_372626 | 8.48e+00 | 9.88e-01 | 8.06e+00 | 5.19e-03 | Male-biased |
| GBM | SAMD4A | exon_skip_372626 | 8.37e+00 | 9.92e-01 | 7.82e+00 | 1.23e-03 | Male-biased |
| PAAD | HNRNPH2 | exon_skip_372614 | 8.25e+00 | 9.88e-01 | 7.89e+00 | 4.59e-03 | Male-biased |
| PAAD | LIN28A | exon_skip_372649 | 1.11e+01 | 2.47e-03 | 1.15e+01 | 9.97e-01 | Female-biased |
| KICH | LIN28A | exon_skip_372649 | 1.14e+01 | 9.93e-01 | 1.11e+01 | 5.93e-03 | Male-biased |
| SKCM | SAMD4A | exon_skip_372626 | 7.97e+00 | 2.10e-03 | 8.50e+00 | 9.91e-01 | Female-biased |
| HNSC | HNRNPH2 | exon_skip_372614 | 8.19e+00 | 9.84e-01 | 7.83e+00 | 8.76e-03 | Male-biased |
| MLH1 related ES. ∗Only the gene encode RBP might with this result. ∗For more information please check Sex-biased RBP-ES network in cancer. |
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Sex-biased CeRNA regulation of gene |
| Sex-biased CeRNA regulation of gene. |
| Gene ID | ceRNA(lncRNA-miRNA-mRNA) | Group | Cancer Type |
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Sex-biased eQTL regulation of gene |
| Sex-biased eQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| eQTL | Description |
| Male-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs13082803 | chr3:34841491:A:C | - | 0.0925752450697355 | 0.0117830379184382 | LUSC | Female-baised eQTL |
| rs13059060 | chr3:34793493:T:C | - | 0.0910172116392672 | 0.0248350205671005 | LUSC | Female-baised eQTL |
| rs13079059 | chr3:34849393:T:C | - | 0.0844921606235518 | 0.0282548202779243 | LUSC | Female-baised eQTL |
| rs13070070 | chr3:34852775:T:C | - | 0.0842516691068642 | 0.033885397868448 | LUSC | Female-baised eQTL |
| rs12636964 | chr3:31679490:A:G | - | 0.329579653022834 | 0.00917649449934443 | BLCA | Female-baised eQTL |
| rs11720449 | chr3:33024975:C:T | - | 0.133038653409188 | 0.0210270456811326 | BLCA | Female-baised eQTL |
| rs7651347 | chr3:39298559:C:T | - | 0.140343196030171 | 0.0289581042370092 | BLCA | Female-baised eQTL |
| rs11721313 | chr3:34076746:C:T | - | 0.189968809462591 | 0.0399538189924164 | BLCA | Female-baised eQTL |
| rs77598274 | chr3:31620681:G:T | - | 0.214572348147822 | 0.0477757603111384 | BLCA | Female-baised eQTL |
| Female-specific eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Effect Score | FDR | Cancer Type | Biased Type |
| rs1358616 | chr3:34489033:G:A | - | 0.047359913304664 | 0.00454027427691445 | KIRC | Male-baised eQTL |
| rs4441697 | chr3:32203276:G:A | - | 0.0439663077506313 | 0.00457230119026138 | KIRC | Male-baised eQTL |
| rs6804112 | chr3:46644758:C:T | - | 0.0390716158254502 | 0.0113488834335233 | KIRC | Male-baised eQTL |
| rs1402148 | chr3:46636805:C:T | - | 0.039387191317576 | 0.014256258097186 | KIRC | Male-baised eQTL |
| rs1520488 | chr3:46635969:C:T | - | 0.0393635475947003 | 0.0143831114087964 | KIRC | Male-baised eQTL |
| rs2302352 | chr3:42642641:A:G | - | 0.0532144608405181 | 0.0226057564879594 | KIRC | Male-baised eQTL |
| rs4234464 | chr3:46638185:A:G | - | 0.0379542349238211 | 0.0233675911944548 | KIRC | Male-baised eQTL |
| rs1520489 | chr3:46636029:G:A | - | 0.0369447606652301 | 0.025131179756 | KIRC | Male-baised eQTL |
| rs73829255 | chr3:42621001:C:T | - | 0.0561196433743281 | 0.0307449642679815 | KIRC | Male-baised eQTL |
| rs6771105 | chr3:42610286:G:A | - | 0.053533976595797 | 0.0479299316862614 | KIRC | Male-baised eQTL |
| rs7629643 | chr3:39103695:G:A | - | -0.0316770847690217 | 0.0388533444306582 | BLCA | Male-baised eQTL |
| rs9809104 | chr3:39104938:T:C | - | -0.0316770847690217 | 0.0388533444306582 | BLCA | Male-baised eQTL |
| rs7630022 | chr3:39074003:G:A | - | -0.0314870559935938 | 0.0409007739765531 | BLCA | Male-baised eQTL |
| rs1122818 | chr3:39099605:A:G | - | -0.0314264756692775 | 0.0417034789315734 | BLCA | Male-baised eQTL |
| Opposite sex-biased eQTL regulation. |
| SNP ID | SNP Info | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Sex-biased Gene in Cancer | Cancer Type |
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Sex-biased eQTM regulation of gene |
| Sex-biased eQTM regulation of gene (The figures only show the pairs with FDR<1e-5. For more information please check the below table). |
| eQTM | Description |
 | Gene ID: ENSG00000076242 |
| CpG Site: cg24607398 | |
| Position to Gene: promoter | |
| Male Effect: -0.105068046396418 | |
| Female Effect: - |
| Male-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| cg24607398 | chr3:36992134 | promoter | -0.105068046396418 | 3.6380595900018e-05 | -0.3407877700502959 | 1.8138640621270553e-07 | LUAD |
| Female-specific eQTM regulation. |
| CpG Site | CpG Postion | Position to Gene | Effect Score | FDR | Cor.r | Cor.Pvalue | Cancer Type |
| Opposite sex-biased eQTM regulation. |
| CpG Site | CpG Postion | CpG Island | Position to Gene | Male Effect | Male FDR | Female Effect | Female FDR | Male Cor | Male P-value | Female Cor | Female P-value | Sex-biased Coding Gene | Cancer Type |
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Sex-biased sQTL regulation of gene |
| Sex-biased sQTL regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTL | Description |
| Male-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Female-specific sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Effect Score | FDR | Cancer Type | Biased Type |
| Opposite sex-biased sQTL regulation. |
| ES ID | Skipped Exon | ORF Anno | SNP ID | SNP Info | SNP Position to ES | Male Effect | Male FDR | Female Effect | Female FDR | Cancer Type |
Top |
Sex-biased sQTM regulation of gene |
| Sex-biased sQTM regulation of gene (The figures only show the pairs with FDR <1e-5. For more information please check the below table). |
| sQTM | Description |
| Male-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Female-specific sQTM regulation. |
| EX ID | Skipped Exon | CPG Site | CPG Position | Position to EX Events | Effect Score | FDR | Cor.r | Cor.Pvalue | ORF_anno | Cancer Type |
| Opposite sex-biased sQTM regulation. |
| EX ID | EX Info | Skipped Exon | CPG Site | CPG Position | CPG Island | Position to EX Events | Male Effect | Male FDR | Female Effect | Female FDR | Male Correlation | Male P-value | Female Correlation | Female P-value | ORF_anno | Cancer Type |
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Related disease information of MLH1 |
| Diseases associated with this gene (DisGeNET). |
| Gene ID | Gene Symbol | Disease ID | Disease Name | Number of PMID | Source |
| ENSG00000076242 | MLH1 | C0007102 | Malignant tumor of colon | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0009402 | Colorectal Carcinoma | 3 | CTD_human |
| ENSG00000076242 | MLH1 | C0009404 | Colorectal Neoplasms | 3 | CTD_human |
| ENSG00000076242 | MLH1 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 5 | CTD_human |
| ENSG00000076242 | MLH1 | C0024299 | Lymphoma | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0027627 | Neoplasm Metastasis | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0265325 | Turcot syndrome (disorder) | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C1140680 | Malignant neoplasm of ovary | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C1321489 | Torre-Muir syndrome | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C1333990 | Hereditary Nonpolyposis Colorectal Cancer | 5 | CTD_human |
| ENSG00000076242 | MLH1 | C1333991 | Hereditary Non-Polyposis Colon Cancer Type 2 | 1 | CTD_human |
| ENSG00000076242 | MLH1 | C4552100 | Lynch Syndrome | 5 | CTD_human |
