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Gene: MMADHC |
Gene summary for MMADHC |
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Gene information | Species | Human | Gene symbol | MMADHC | Gene ID | 27249 |
Gene name | metabolism of cobalamin associated D | |
Gene Alias | C2orf25 | |
Cytomap | 2q23.2 | |
Gene Type | protein-coding | GO ID | GO:0006725 | UniProtAcc | Q9H3L0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
27249 | MMADHC | LZE4T | Human | Esophagus | ESCC | 1.73e-27 | 1.34e+00 | 0.0811 |
27249 | MMADHC | LZE7T | Human | Esophagus | ESCC | 9.82e-05 | 8.75e-01 | 0.0667 |
27249 | MMADHC | LZE8T | Human | Esophagus | ESCC | 5.33e-12 | 4.68e-01 | 0.067 |
27249 | MMADHC | LZE20T | Human | Esophagus | ESCC | 6.89e-05 | 3.57e-01 | 0.0662 |
27249 | MMADHC | LZE22D1 | Human | Esophagus | HGIN | 4.22e-03 | 7.31e-02 | 0.0595 |
27249 | MMADHC | LZE24T | Human | Esophagus | ESCC | 8.17e-16 | 8.39e-01 | 0.0596 |
27249 | MMADHC | LZE6T | Human | Esophagus | ESCC | 1.01e-03 | 5.72e-01 | 0.0845 |
27249 | MMADHC | P2T-E | Human | Esophagus | ESCC | 2.75e-54 | 9.55e-01 | 0.1177 |
27249 | MMADHC | P4T-E | Human | Esophagus | ESCC | 1.86e-52 | 1.76e+00 | 0.1323 |
27249 | MMADHC | P5T-E | Human | Esophagus | ESCC | 9.95e-33 | 9.08e-01 | 0.1327 |
27249 | MMADHC | P8T-E | Human | Esophagus | ESCC | 3.30e-43 | 8.16e-01 | 0.0889 |
27249 | MMADHC | P9T-E | Human | Esophagus | ESCC | 1.89e-17 | 5.93e-01 | 0.1131 |
27249 | MMADHC | P10T-E | Human | Esophagus | ESCC | 1.31e-55 | 1.13e+00 | 0.116 |
27249 | MMADHC | P11T-E | Human | Esophagus | ESCC | 1.98e-22 | 1.51e+00 | 0.1426 |
27249 | MMADHC | P12T-E | Human | Esophagus | ESCC | 6.13e-63 | 1.49e+00 | 0.1122 |
27249 | MMADHC | P15T-E | Human | Esophagus | ESCC | 5.31e-45 | 1.43e+00 | 0.1149 |
27249 | MMADHC | P16T-E | Human | Esophagus | ESCC | 3.43e-47 | 1.02e+00 | 0.1153 |
27249 | MMADHC | P17T-E | Human | Esophagus | ESCC | 4.53e-06 | 7.90e-01 | 0.1278 |
27249 | MMADHC | P19T-E | Human | Esophagus | ESCC | 5.07e-06 | 1.13e+00 | 0.1662 |
27249 | MMADHC | P20T-E | Human | Esophagus | ESCC | 2.40e-22 | 6.98e-01 | 0.1124 |
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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 |
Oral cavity | OSCC | ![]() |
Oral cavity | LP | ![]() |
Oral cavity | EOLP | ![]() |
Oral cavity | NEOLP | ![]() |
Esophagus | HGIN | ![]() |
∗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:00067671 | Esophagus | ESCC | water-soluble vitamin metabolic process | 41/8552 | 59/18723 | 1.84e-04 | 1.17e-03 | 41 |
GO:00067661 | Esophagus | ESCC | vitamin metabolic process | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00330132 | Esophagus | ESCC | tetrapyrrole metabolic process | 37/8552 | 59/18723 | 6.23e-03 | 2.29e-02 | 37 |
GO:0033013 | Liver | Cirrhotic | tetrapyrrole metabolic process | 24/4634 | 59/18723 | 5.06e-03 | 2.62e-02 | 24 |
GO:0006767 | Liver | HCC | water-soluble vitamin metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:00330131 | Liver | HCC | tetrapyrrole metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-02 | 57 |
GO:00067672 | Skin | cSCC | water-soluble vitamin metabolic process | 24/4864 | 59/18723 | 9.59e-03 | 4.30e-02 | 24 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
MMADHC | SNV | Missense_Mutation | c.95N>T | p.Ser32Leu | p.S32L | Q9H3L0 | protein_coding | deleterious(0.02) | probably_damaging(0.93) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MMADHC | SNV | Missense_Mutation | c.796C>T | p.Arg266Cys | p.R266C | Q9H3L0 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MMADHC | SNV | Missense_Mutation | c.796C>T | p.Arg266Cys | p.R266C | Q9H3L0 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD | |
MMADHC | deletion | In_Frame_Del | novel | c.741_773delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Glu247_Asp257del | p.E247_D257del | Q9H3L0 | protein_coding | TCGA-G4-6295-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
MMADHC | SNV | Missense_Mutation | rs774720255 | c.335N>G | p.His112Arg | p.H112R | Q9H3L0 | protein_coding | tolerated(0.08) | possibly_damaging(0.78) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMADHC | SNV | Missense_Mutation | novel | c.161N>A | p.Arg54Gln | p.R54Q | Q9H3L0 | protein_coding | tolerated(0.14) | benign(0.026) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
MMADHC | SNV | Missense_Mutation | rs544727246 | c.742N>T | p.Arg248Cys | p.R248C | Q9H3L0 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MMADHC | SNV | Missense_Mutation | novel | c.868N>G | p.Met290Val | p.M290V | Q9H3L0 | protein_coding | tolerated(0.12) | benign(0.023) | TCGA-AX-A1C5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | SD |
MMADHC | SNV | Missense_Mutation | novel | c.518N>C | p.Leu173Pro | p.L173P | Q9H3L0 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
MMADHC | SNV | Missense_Mutation | rs756696379 | c.797N>A | p.Arg266His | p.R266H | Q9H3L0 | protein_coding | deleterious(0.01) | probably_damaging(0.981) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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 |
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