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Gene: MMS22L |
Gene summary for MMS22L |
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Gene information | Species | Human | Gene symbol | MMS22L | Gene ID | 253714 |
Gene name | MMS22 like, DNA repair protein | |
Gene Alias | C6orf167 | |
Cytomap | 6q16.1 | |
Gene Type | protein-coding | GO ID | GO:0000724 | UniProtAcc | Q6ZRQ5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
253714 | MMS22L | HSIL_HPV_2 | Human | Cervix | HSIL_HPV | 1.74e-02 | 1.93e-01 | 0.0208 |
253714 | MMS22L | CCI_1 | Human | Cervix | CC | 7.22e-11 | 8.70e-01 | 0.528 |
253714 | MMS22L | CCI_2 | Human | Cervix | CC | 3.02e-11 | 9.88e-01 | 0.5249 |
253714 | MMS22L | CCI_3 | Human | Cervix | CC | 6.61e-14 | 1.18e+00 | 0.516 |
253714 | MMS22L | sample3 | Human | Cervix | CC | 5.28e-04 | 2.36e-01 | 0.1387 |
253714 | MMS22L | T3 | Human | Cervix | CC | 5.92e-03 | 1.96e-01 | 0.1389 |
253714 | MMS22L | C04 | Human | Oral cavity | OSCC | 6.78e-07 | 2.88e-01 | 0.2633 |
253714 | MMS22L | C21 | Human | Oral cavity | OSCC | 9.07e-10 | 5.16e-01 | 0.2678 |
253714 | MMS22L | C30 | Human | Oral cavity | OSCC | 8.97e-07 | 5.07e-01 | 0.3055 |
253714 | MMS22L | C38 | Human | Oral cavity | OSCC | 3.52e-05 | 6.89e-01 | 0.172 |
253714 | MMS22L | C43 | Human | Oral cavity | OSCC | 2.08e-14 | 2.61e-01 | 0.1704 |
253714 | MMS22L | C46 | Human | Oral cavity | OSCC | 3.10e-15 | 4.01e-01 | 0.1673 |
253714 | MMS22L | C57 | Human | Oral cavity | OSCC | 4.70e-08 | 3.39e-01 | 0.1679 |
253714 | MMS22L | C08 | Human | Oral cavity | OSCC | 1.45e-06 | 1.99e-01 | 0.1919 |
253714 | MMS22L | LN22 | Human | Oral cavity | OSCC | 1.64e-04 | 4.65e-01 | 0.1733 |
253714 | MMS22L | LN46 | Human | Oral cavity | OSCC | 3.65e-08 | 2.92e-01 | 0.1666 |
253714 | MMS22L | SYSMH1 | Human | Oral cavity | OSCC | 1.74e-04 | 1.01e-01 | 0.1127 |
253714 | MMS22L | SYSMH2 | Human | Oral cavity | OSCC | 1.57e-04 | 2.91e-01 | 0.2326 |
253714 | MMS22L | SYSMH3 | Human | Oral cavity | OSCC | 2.53e-12 | 2.99e-01 | 0.2442 |
253714 | MMS22L | PTC05 | Human | Thyroid | PTC | 7.54e-06 | 2.76e-01 | 0.2065 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00062602 | Cervix | CC | DNA replication | 48/2311 | 260/18723 | 2.70e-03 | 1.85e-02 | 48 |
GO:00062603 | Oral cavity | OSCC | DNA replication | 159/7305 | 260/18723 | 3.25e-13 | 1.59e-11 | 159 |
GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
GO:00062611 | Oral cavity | OSCC | DNA-dependent DNA replication | 84/7305 | 151/18723 | 2.46e-05 | 2.30e-04 | 84 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:0000725 | Oral cavity | OSCC | recombinational repair | 70/7305 | 140/18723 | 5.22e-03 | 2.03e-02 | 70 |
GO:0000724 | Oral cavity | OSCC | double-strand break repair via homologous recombination | 69/7305 | 138/18723 | 5.52e-03 | 2.14e-02 | 69 |
GO:00062606 | Thyroid | PTC | DNA replication | 114/5968 | 260/18723 | 3.09e-05 | 2.95e-04 | 114 |
GO:00063026 | Thyroid | PTC | double-strand break repair | 103/5968 | 251/18723 | 1.30e-03 | 7.40e-03 | 103 |
GO:000626013 | Thyroid | ATC | DNA replication | 124/6293 | 260/18723 | 1.58e-06 | 1.93e-05 | 124 |
GO:000630212 | Thyroid | ATC | double-strand break repair | 110/6293 | 251/18723 | 4.48e-04 | 2.65e-03 | 110 |
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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 |
MMS22L | SNV | Missense_Mutation | novel | c.2057T>C | p.Leu686Ser | p.L686S | Q6ZRQ5 | protein_coding | tolerated(0.52) | benign(0.003) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMS22L | SNV | Missense_Mutation | c.920N>A | p.Arg307Lys | p.R307K | Q6ZRQ5 | protein_coding | deleterious(0.04) | probably_damaging(0.913) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MMS22L | SNV | Missense_Mutation | c.811N>A | p.Leu271Ile | p.L271I | Q6ZRQ5 | protein_coding | tolerated(0.42) | benign(0.011) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MMS22L | SNV | Missense_Mutation | rs373504857 | c.1952A>G | p.Asp651Gly | p.D651G | Q6ZRQ5 | protein_coding | deleterious(0.02) | possibly_damaging(0.675) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |
MMS22L | SNV | Missense_Mutation | c.436N>C | p.Lys146Gln | p.K146Q | Q6ZRQ5 | protein_coding | tolerated(0.11) | benign(0.005) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD | |
MMS22L | SNV | Missense_Mutation | novel | c.2291N>G | p.Gln764Arg | p.Q764R | Q6ZRQ5 | protein_coding | deleterious(0.01) | probably_damaging(0.988) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMS22L | SNV | Missense_Mutation | novel | c.1867N>A | p.Leu623Ile | p.L623I | Q6ZRQ5 | protein_coding | tolerated(0.12) | benign(0.226) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMS22L | SNV | Missense_Mutation | c.1973G>A | p.Arg658Gln | p.R658Q | Q6ZRQ5 | protein_coding | tolerated(0.05) | benign(0.211) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MMS22L | SNV | Missense_Mutation | novel | c.23C>T | p.Ser8Leu | p.S8L | Q6ZRQ5 | protein_coding | deleterious_low_confidence(0.01) | benign(0.098) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
MMS22L | SNV | Missense_Mutation | novel | c.1616N>T | p.Ala539Val | p.A539V | Q6ZRQ5 | protein_coding | deleterious(0) | benign(0.239) | TCGA-AX-A063-01 | 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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