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Gene: MDH2 |
Gene summary for MDH2 |
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Gene information | Species | Human | Gene symbol | MDH2 | Gene ID | 4191 |
Gene name | malate dehydrogenase 2 | |
Gene Alias | DEE51 | |
Cytomap | 7q11.23 | |
Gene Type | protein-coding | GO ID | GO:0005975 | UniProtAcc | B3KTM1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4191 | MDH2 | GSM4909282 | Human | Breast | IDC | 3.85e-19 | 4.97e-01 | -0.0288 |
4191 | MDH2 | GSM4909288 | Human | Breast | IDC | 1.35e-05 | 1.78e-01 | 0.0988 |
4191 | MDH2 | GSM4909294 | Human | Breast | IDC | 4.68e-05 | 9.63e-02 | 0.2022 |
4191 | MDH2 | GSM4909296 | Human | Breast | IDC | 2.19e-24 | 3.04e-01 | 0.1524 |
4191 | MDH2 | GSM4909297 | Human | Breast | IDC | 5.82e-23 | -3.67e-01 | 0.1517 |
4191 | MDH2 | GSM4909301 | Human | Breast | IDC | 6.77e-04 | -1.82e-01 | 0.1577 |
4191 | MDH2 | GSM4909311 | Human | Breast | IDC | 1.51e-41 | -2.83e-01 | 0.1534 |
4191 | MDH2 | GSM4909312 | Human | Breast | IDC | 1.21e-16 | 1.26e-01 | 0.1552 |
4191 | MDH2 | GSM4909313 | Human | Breast | IDC | 8.31e-03 | -1.05e-01 | 0.0391 |
4191 | MDH2 | GSM4909316 | Human | Breast | IDC | 9.12e-05 | 9.49e-02 | 0.21 |
4191 | MDH2 | GSM4909319 | Human | Breast | IDC | 5.67e-57 | -2.63e-01 | 0.1563 |
4191 | MDH2 | GSM4909320 | Human | Breast | IDC | 1.08e-06 | -2.67e-01 | 0.1575 |
4191 | MDH2 | GSM4909321 | Human | Breast | IDC | 3.83e-20 | 8.92e-02 | 0.1559 |
4191 | MDH2 | brca1 | Human | Breast | Precancer | 4.96e-10 | 4.63e-01 | -0.0338 |
4191 | MDH2 | brca2 | Human | Breast | Precancer | 2.84e-03 | 2.94e-01 | -0.024 |
4191 | MDH2 | brca3 | Human | Breast | Precancer | 2.66e-23 | 6.02e-01 | -0.0263 |
4191 | MDH2 | M2 | Human | Breast | IDC | 1.91e-04 | 1.18e-01 | 0.21 |
4191 | MDH2 | NCCBC11 | Human | Breast | DCIS | 4.96e-02 | 2.06e-01 | 0.1232 |
4191 | MDH2 | NCCBC14 | Human | Breast | DCIS | 1.16e-14 | -1.83e-01 | 0.2021 |
4191 | MDH2 | NCCBC2 | Human | Breast | DCIS | 5.16e-03 | -3.48e-01 | 0.1554 |
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∗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. |
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Malignant transformation related pathway analysis |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00067342 | Colorectum | MSI-H | NADH metabolic process | 7/1319 | 29/18723 | 3.34e-03 | 4.05e-02 | 7 |
GO:000906010 | Endometrium | AEH | aerobic respiration | 75/2100 | 189/18723 | 3.22e-24 | 4.82e-21 | 75 |
GO:004533310 | Endometrium | AEH | cellular respiration | 79/2100 | 230/18723 | 8.38e-21 | 7.18e-18 | 79 |
GO:001598010 | Endometrium | AEH | energy derivation by oxidation of organic compounds | 93/2100 | 318/18723 | 8.51e-19 | 5.10e-16 | 93 |
GO:000609110 | Endometrium | AEH | generation of precursor metabolites and energy | 121/2100 | 490/18723 | 1.65e-17 | 8.23e-15 | 121 |
GO:000906015 | Endometrium | EEC | aerobic respiration | 79/2168 | 189/18723 | 2.63e-26 | 3.95e-23 | 79 |
GO:004533315 | Endometrium | EEC | cellular respiration | 83/2168 | 230/18723 | 1.72e-22 | 2.06e-19 | 83 |
GO:001598015 | Endometrium | EEC | energy derivation by oxidation of organic compounds | 97/2168 | 318/18723 | 5.37e-20 | 3.58e-17 | 97 |
GO:000609115 | Endometrium | EEC | generation of precursor metabolites and energy | 125/2168 | 490/18723 | 3.76e-18 | 1.88e-15 | 125 |
GO:000906020 | Esophagus | HGIN | aerobic respiration | 81/2587 | 189/18723 | 1.07e-22 | 9.26e-20 | 81 |
GO:000609120 | Esophagus | HGIN | generation of precursor metabolites and energy | 145/2587 | 490/18723 | 3.41e-20 | 2.04e-17 | 145 |
GO:004533320 | Esophagus | HGIN | cellular respiration | 86/2587 | 230/18723 | 2.41e-19 | 1.20e-16 | 86 |
GO:001598020 | Esophagus | HGIN | energy derivation by oxidation of organic compounds | 105/2587 | 318/18723 | 1.16e-18 | 4.99e-16 | 105 |
GO:0006091110 | Esophagus | ESCC | generation of precursor metabolites and energy | 331/8552 | 490/18723 | 3.86e-23 | 8.45e-21 | 331 |
GO:0045333110 | Esophagus | ESCC | cellular respiration | 173/8552 | 230/18723 | 4.53e-20 | 5.99e-18 | 173 |
GO:0009060110 | Esophagus | ESCC | aerobic respiration | 145/8552 | 189/18723 | 2.16e-18 | 2.21e-16 | 145 |
GO:0015980110 | Esophagus | ESCC | energy derivation by oxidation of organic compounds | 220/8552 | 318/18723 | 1.20e-17 | 1.09e-15 | 220 |
GO:00060997 | Esophagus | ESCC | tricarboxylic acid cycle | 27/8552 | 30/18723 | 4.54e-07 | 6.15e-06 | 27 |
GO:00436485 | Esophagus | ESCC | dicarboxylic acid metabolic process | 58/8552 | 96/18723 | 2.55e-03 | 1.09e-02 | 58 |
GO:000609112 | Liver | Cirrhotic | generation of precursor metabolites and energy | 238/4634 | 490/18723 | 6.85e-31 | 1.07e-27 | 238 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120012 | Breast | Precancer | Carbon metabolism | 18/684 | 115/8465 | 4.79e-03 | 2.75e-02 | 2.11e-02 | 18 |
hsa0120013 | Breast | Precancer | Carbon metabolism | 18/684 | 115/8465 | 4.79e-03 | 2.75e-02 | 2.11e-02 | 18 |
hsa01200 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa00620 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa00020 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa00630 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa012001 | Colorectum | AD | Carbon metabolism | 55/2092 | 115/8465 | 5.53e-08 | 8.42e-07 | 5.37e-07 | 55 |
hsa006201 | Colorectum | AD | Pyruvate metabolism | 28/2092 | 47/8465 | 3.71e-07 | 5.41e-06 | 3.45e-06 | 28 |
hsa000201 | Colorectum | AD | Citrate cycle (TCA cycle) | 20/2092 | 30/8465 | 1.43e-06 | 1.77e-05 | 1.13e-05 | 20 |
hsa006301 | Colorectum | AD | Glyoxylate and dicarboxylate metabolism | 14/2092 | 30/8465 | 7.25e-03 | 2.97e-02 | 1.89e-02 | 14 |
hsa006202 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000202 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012002 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa006203 | Colorectum | SER | Pyruvate metabolism | 22/1580 | 47/8465 | 9.62e-06 | 1.33e-04 | 9.67e-05 | 22 |
hsa000203 | Colorectum | SER | Citrate cycle (TCA cycle) | 16/1580 | 30/8465 | 2.06e-05 | 2.74e-04 | 1.99e-04 | 16 |
hsa012003 | Colorectum | SER | Carbon metabolism | 40/1580 | 115/8465 | 2.77e-05 | 3.41e-04 | 2.47e-04 | 40 |
hsa006204 | Colorectum | MSS | Pyruvate metabolism | 24/1875 | 47/8465 | 1.25e-05 | 1.35e-04 | 8.27e-05 | 24 |
hsa012004 | Colorectum | MSS | Carbon metabolism | 43/1875 | 115/8465 | 1.37e-04 | 1.17e-03 | 7.19e-04 | 43 |
hsa000204 | Colorectum | MSS | Citrate cycle (TCA cycle) | 16/1875 | 30/8465 | 1.84e-04 | 1.47e-03 | 9.00e-04 | 16 |
hsa006205 | Colorectum | MSS | Pyruvate metabolism | 24/1875 | 47/8465 | 1.25e-05 | 1.35e-04 | 8.27e-05 | 24 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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. |
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Somatic mutation of malignant transformation related genes |
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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 |
MDH2 | SNV | Missense_Mutation | rs145207041 | c.505N>A | p.Val169Met | p.V169M | P40926 | protein_coding | deleterious(0.03) | possibly_damaging(0.62) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MDH2 | SNV | Missense_Mutation | novel | c.754N>T | p.Ala252Ser | p.A252S | P40926 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-E9-A22H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MDH2 | insertion | Frame_Shift_Ins | novel | c.789_790insGGGTT | p.Asp264GlyfsTer5 | p.D264Gfs*5 | P40926 | protein_coding | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |||
MDH2 | insertion | Nonsense_Mutation | novel | c.791_792insGAGTCATTTTTGAGGG | p.Asp264GlufsTer5 | p.D264Efs*5 | P40926 | protein_coding | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |||
MDH2 | SNV | Missense_Mutation | novel | c.596G>A | p.Gly199Asp | p.G199D | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MDH2 | SNV | Missense_Mutation | c.509N>G | p.Thr170Arg | p.T170R | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
MDH2 | SNV | Missense_Mutation | rs782546937 | c.502N>A | p.Gly168Ser | p.G168S | P40926 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
MDH2 | SNV | Missense_Mutation | c.169G>C | p.Asp57His | p.D57H | P40926 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-CK-4948-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
MDH2 | SNV | Missense_Mutation | rs782472423 | c.328N>T | p.Arg110Trp | p.R110W | P40926 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDH2 | SNV | Missense_Mutation | rs373091398 | c.898G>A | p.Glu300Lys | p.E300K | P40926 | protein_coding | tolerated(0.1) | benign(0.085) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4191 | MDH2 | NA | ALBUMIN | ALBUMIN HUMAN | 2932302 | |
4191 | MDH2 | NA | EXPECTORANT | 15225672 | ||
4191 | MDH2 | NA | GONADOTROPINS | 10026128 | ||
4191 | MDH2 | NA | ANTIOXIDANT | 15225672 | ||
4191 | MDH2 | NA | CISPLATIN | CISPLATIN | 15225672 |
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