![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: MLH1 |
Gene summary for MLH1 |
![]() |
Gene information | Species | Human | Gene symbol | MLH1 | Gene ID | 4292 |
Gene name | mutL homolog 1 | |
Gene Alias | COCA2 | |
Cytomap | 3p22.2 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P40692 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4292 | MLH1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.70e-05 | 2.45e-01 | -0.0811 |
4292 | MLH1 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.08e-05 | 2.56e-01 | -0.1954 |
4292 | MLH1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.52e-03 | 2.33e-01 | -0.059 |
4292 | MLH1 | HTA11_7469_2000001011 | Human | Colorectum | AD | 1.61e-20 | 1.99e+00 | -0.0124 |
4292 | MLH1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 1.31e-04 | 3.06e-01 | 0.294 |
4292 | MLH1 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 7.32e-37 | 1.51e+00 | 0.281 |
4292 | MLH1 | LZE4T | Human | Esophagus | ESCC | 9.96e-08 | 2.22e-01 | 0.0811 |
4292 | MLH1 | LZE24T | Human | Esophagus | ESCC | 1.05e-04 | 1.17e-01 | 0.0596 |
4292 | MLH1 | P2T-E | Human | Esophagus | ESCC | 6.07e-14 | 2.44e-01 | 0.1177 |
4292 | MLH1 | P4T-E | Human | Esophagus | ESCC | 5.09e-10 | 2.58e-01 | 0.1323 |
4292 | MLH1 | P5T-E | Human | Esophagus | ESCC | 6.19e-07 | 1.48e-01 | 0.1327 |
4292 | MLH1 | P8T-E | Human | Esophagus | ESCC | 4.75e-10 | 1.72e-01 | 0.0889 |
4292 | MLH1 | P10T-E | Human | Esophagus | ESCC | 2.57e-13 | 1.64e-01 | 0.116 |
4292 | MLH1 | P11T-E | Human | Esophagus | ESCC | 9.05e-08 | 3.50e-01 | 0.1426 |
4292 | MLH1 | P12T-E | Human | Esophagus | ESCC | 7.63e-28 | 4.75e-01 | 0.1122 |
4292 | MLH1 | P15T-E | Human | Esophagus | ESCC | 4.57e-07 | 1.41e-01 | 0.1149 |
4292 | MLH1 | P16T-E | Human | Esophagus | ESCC | 1.29e-14 | 2.65e-01 | 0.1153 |
4292 | MLH1 | P17T-E | Human | Esophagus | ESCC | 5.02e-06 | 2.14e-01 | 0.1278 |
4292 | MLH1 | P19T-E | Human | Esophagus | ESCC | 3.47e-02 | 2.43e-01 | 0.1662 |
4292 | MLH1 | P20T-E | Human | Esophagus | ESCC | 2.36e-09 | 1.01e-01 | 0.1124 |
Page: 1 2 3 |
![]() |
∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
Page: 1 2 3 4 5 6 7 8 9 |
![]() |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00164452 | Esophagus | ESCC | somatic diversification of immunoglobulins | 43/8552 | 67/18723 | 1.73e-03 | 7.97e-03 | 43 |
GO:00023815 | Esophagus | ESCC | immunoglobulin production involved in immunoglobulin-mediated immune response | 44/8552 | 70/18723 | 2.80e-03 | 1.19e-02 | 44 |
GO:0002204 | Esophagus | ESCC | somatic recombination of immunoglobulin genes involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:0002208 | Esophagus | ESCC | somatic diversification of immunoglobulins involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:0045190 | Esophagus | ESCC | isotype switching | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:003424914 | Esophagus | ESCC | negative regulation of cellular amide metabolic process | 144/8552 | 273/18723 | 1.08e-02 | 3.67e-02 | 144 |
Page: 1 2 3 4 5 6 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05213 | Colorectum | AD | Endometrial cancer | 29/2092 | 58/8465 | 2.69e-05 | 2.57e-04 | 1.64e-04 | 29 |
hsa05210 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
hsa052131 | Colorectum | AD | Endometrial cancer | 29/2092 | 58/8465 | 2.69e-05 | 2.57e-04 | 1.64e-04 | 29 |
hsa052101 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
hsa052102 | Colorectum | MSS | Colorectal cancer | 36/1875 | 86/8465 | 3.08e-05 | 3.22e-04 | 1.97e-04 | 36 |
hsa052134 | Colorectum | MSS | Endometrial cancer | 27/1875 | 58/8465 | 3.18e-05 | 3.23e-04 | 1.98e-04 | 27 |
hsa01524 | Colorectum | MSS | Platinum drug resistance | 25/1875 | 73/8465 | 1.17e-02 | 3.99e-02 | 2.44e-02 | 25 |
hsa052103 | Colorectum | MSS | Colorectal cancer | 36/1875 | 86/8465 | 3.08e-05 | 3.22e-04 | 1.97e-04 | 36 |
hsa052135 | Colorectum | MSS | Endometrial cancer | 27/1875 | 58/8465 | 3.18e-05 | 3.23e-04 | 1.98e-04 | 27 |
hsa015241 | Colorectum | MSS | Platinum drug resistance | 25/1875 | 73/8465 | 1.17e-02 | 3.99e-02 | 2.44e-02 | 25 |
hsa0521020 | Esophagus | ESCC | Colorectal cancer | 69/4205 | 86/8465 | 4.06e-09 | 4.13e-08 | 2.11e-08 | 69 |
hsa015247 | Esophagus | ESCC | Platinum drug resistance | 56/4205 | 73/8465 | 1.85e-06 | 1.13e-05 | 5.78e-06 | 56 |
hsa0521320 | Esophagus | ESCC | Endometrial cancer | 45/4205 | 58/8465 | 1.14e-05 | 5.98e-05 | 3.06e-05 | 45 |
hsa034304 | Esophagus | ESCC | Mismatch repair | 21/4205 | 23/8465 | 2.85e-05 | 1.35e-04 | 6.90e-05 | 21 |
hsa05210110 | Esophagus | ESCC | Colorectal cancer | 69/4205 | 86/8465 | 4.06e-09 | 4.13e-08 | 2.11e-08 | 69 |
hsa0152414 | Esophagus | ESCC | Platinum drug resistance | 56/4205 | 73/8465 | 1.85e-06 | 1.13e-05 | 5.78e-06 | 56 |
hsa05213110 | Esophagus | ESCC | Endometrial cancer | 45/4205 | 58/8465 | 1.14e-05 | 5.98e-05 | 3.06e-05 | 45 |
hsa0343011 | Esophagus | ESCC | Mismatch repair | 21/4205 | 23/8465 | 2.85e-05 | 1.35e-04 | 6.90e-05 | 21 |
Page: 1 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
Page: 1 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
MLH1 | SNV | Missense_Mutation | c.595N>A | p.Glu199Lys | p.E199K | P40692 | protein_coding | deleterious(0.01) | possibly_damaging(0.548) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MLH1 | SNV | Missense_Mutation | novel | c.1648N>A | p.Leu550Ile | p.L550I | P40692 | protein_coding | tolerated(0.44) | benign(0.056) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MLH1 | SNV | Missense_Mutation | rs587779951 | c.1202N>A | p.Ser401Asn | p.S401N | P40692 | protein_coding | tolerated(0.67) | benign(0.001) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MLH1 | SNV | Missense_Mutation | c.1500N>G | p.Ile500Met | p.I500M | P40692 | protein_coding | tolerated(0.06) | benign(0.161) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
MLH1 | SNV | Missense_Mutation | c.1891G>C | p.Asp631His | p.D631H | P40692 | protein_coding | deleterious(0.01) | probably_damaging(0.984) | TCGA-C8-A1HE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MLH1 | SNV | Missense_Mutation | c.2126N>A | p.Pro709Gln | p.P709Q | P40692 | protein_coding | tolerated(0.4) | benign(0.003) | TCGA-D8-A1X9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD | |
MLH1 | SNV | Missense_Mutation | rs587779005 | c.331N>C | p.Ala111Pro | p.A111P | P40692 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
MLH1 | insertion | Frame_Shift_Ins | novel | c.1656_1657insCTTCTATTAGAAGGTGTCATCTATG | p.Thr553LeufsTer12 | p.T553Lfs*12 | P40692 | protein_coding | TCGA-A8-A082-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | ||
MLH1 | insertion | Frame_Shift_Ins | novel | c.1504_1505insTT | p.Asn502IlefsTer7 | p.N502Ifs*7 | P40692 | protein_coding | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
MLH1 | deletion | Frame_Shift_Del | novel | c.1506_1507delNN | p.Leu503HisfsTer2 | p.L503Hfs*2 | P40692 | protein_coding | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
Page: 1 2 3 4 5 6 7 8 9 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4292 | MLH1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | KU60648 | 28224663 | ||
4292 | MLH1 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME | N/A | 22810696 |
Page: 1 |