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Gene: MIS12 |
Gene summary for MIS12 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MIS12 | Gene ID | 79003 |
| Gene name | MIS12 kinetochore complex component | |
| Gene Alias | 2510025F08Rik | |
| Cytomap | 17p13.2 | |
| Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q9H081 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 79003 | MIS12 | LZE4T | Human | Esophagus | ESCC | 8.39e-08 | 1.27e-01 | 0.0811 |
| 79003 | MIS12 | LZE8T | Human | Esophagus | ESCC | 4.12e-05 | 8.43e-02 | 0.067 |
| 79003 | MIS12 | LZE24T | Human | Esophagus | ESCC | 4.56e-24 | 4.24e-01 | 0.0596 |
| 79003 | MIS12 | LZE6T | Human | Esophagus | ESCC | 6.60e-04 | 1.46e-01 | 0.0845 |
| 79003 | MIS12 | P1T-E | Human | Esophagus | ESCC | 1.88e-11 | 2.77e-01 | 0.0875 |
| 79003 | MIS12 | P2T-E | Human | Esophagus | ESCC | 5.90e-23 | 2.79e-01 | 0.1177 |
| 79003 | MIS12 | P4T-E | Human | Esophagus | ESCC | 2.22e-23 | 3.87e-01 | 0.1323 |
| 79003 | MIS12 | P5T-E | Human | Esophagus | ESCC | 1.01e-07 | 9.51e-02 | 0.1327 |
| 79003 | MIS12 | P8T-E | Human | Esophagus | ESCC | 1.06e-18 | 1.41e-01 | 0.0889 |
| 79003 | MIS12 | P9T-E | Human | Esophagus | ESCC | 1.26e-19 | 1.73e-01 | 0.1131 |
| 79003 | MIS12 | P10T-E | Human | Esophagus | ESCC | 2.76e-12 | 9.35e-02 | 0.116 |
| 79003 | MIS12 | P11T-E | Human | Esophagus | ESCC | 3.53e-07 | 2.03e-01 | 0.1426 |
| 79003 | MIS12 | P12T-E | Human | Esophagus | ESCC | 2.12e-24 | 3.24e-01 | 0.1122 |
| 79003 | MIS12 | P15T-E | Human | Esophagus | ESCC | 3.45e-13 | 7.54e-02 | 0.1149 |
| 79003 | MIS12 | P16T-E | Human | Esophagus | ESCC | 2.50e-12 | 2.68e-01 | 0.1153 |
| 79003 | MIS12 | P17T-E | Human | Esophagus | ESCC | 5.08e-05 | 1.64e-01 | 0.1278 |
| 79003 | MIS12 | P19T-E | Human | Esophagus | ESCC | 1.72e-06 | 2.70e-01 | 0.1662 |
| 79003 | MIS12 | P20T-E | Human | Esophagus | ESCC | 6.43e-14 | 2.47e-01 | 0.1124 |
| 79003 | MIS12 | P21T-E | Human | Esophagus | ESCC | 2.62e-16 | 1.87e-01 | 0.1617 |
| 79003 | MIS12 | P22T-E | Human | Esophagus | ESCC | 1.99e-14 | 1.21e-01 | 0.1236 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:014001414 | Esophagus | ESCC | mitotic nuclear division | 218/8552 | 287/18723 | 6.17e-26 | 1.78e-23 | 218 |
| GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
| GO:000007011 | Esophagus | ESCC | mitotic sister chromatid segregation | 138/8552 | 168/18723 | 1.37e-22 | 2.63e-20 | 138 |
| GO:00008194 | Esophagus | ESCC | sister chromatid segregation | 157/8552 | 202/18723 | 8.41e-21 | 1.33e-18 | 157 |
| GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:005131011 | Esophagus | ESCC | metaphase plate congression | 58/8552 | 65/18723 | 1.81e-13 | 8.63e-12 | 58 |
| GO:000708011 | Esophagus | ESCC | mitotic metaphase plate congression | 47/8552 | 50/18723 | 3.15e-13 | 1.47e-11 | 47 |
| GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
| GO:00988133 | Esophagus | ESCC | nuclear chromosome segregation | 187/8552 | 281/18723 | 1.00e-12 | 4.36e-11 | 187 |
| GO:005130311 | Esophagus | ESCC | establishment of chromosome localization | 67/8552 | 80/18723 | 1.92e-12 | 8.09e-11 | 67 |
| GO:005000011 | Esophagus | ESCC | chromosome localization | 68/8552 | 82/18723 | 3.37e-12 | 1.32e-10 | 68 |
| GO:00002802 | Esophagus | ESCC | nuclear division | 270/8552 | 439/18723 | 1.17e-11 | 4.24e-10 | 270 |
| GO:003450211 | Esophagus | ESCC | protein localization to chromosome | 70/8552 | 92/18723 | 2.54e-09 | 5.64e-08 | 70 |
| GO:00513831 | Esophagus | ESCC | kinetochore organization | 21/8552 | 23/18723 | 5.69e-06 | 5.90e-05 | 21 |
| GO:00086081 | Esophagus | ESCC | attachment of spindle microtubules to kinetochore | 29/8552 | 35/18723 | 6.61e-06 | 6.75e-05 | 29 |
| GO:00513151 | Esophagus | ESCC | attachment of mitotic spindle microtubules to kinetochore | 15/8552 | 15/18723 | 7.81e-06 | 7.69e-05 | 15 |
| GO:00345081 | Esophagus | ESCC | centromere complex assembly | 25/8552 | 30/18723 | 2.45e-05 | 2.09e-04 | 25 |
| GO:00513821 | Esophagus | ESCC | kinetochore assembly | 16/8552 | 18/18723 | 1.78e-04 | 1.15e-03 | 16 |
| GO:00714591 | Esophagus | ESCC | protein localization to chromosome, centromeric region | 18/8552 | 25/18723 | 7.04e-03 | 2.56e-02 | 18 |
| GO:01400145 | Oral cavity | OSCC | mitotic nuclear division | 191/7305 | 287/18723 | 1.99e-21 | 3.70e-19 | 191 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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 |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| MIS12 | SNV | Missense_Mutation | c.396A>T | p.Leu132Phe | p.L132F | Q9H081 | protein_coding | deleterious(0.01) | possibly_damaging(0.776) | TCGA-A1-A0SG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | ||
| MIS12 | SNV | Missense_Mutation | c.291N>G | p.Ile97Met | p.I97M | Q9H081 | protein_coding | deleterious(0) | possibly_damaging(0.557) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| MIS12 | insertion | Frame_Shift_Ins | novel | c.455_456insGACTCAAACTCCTGGCCTCAGGGGATCATCCACCTCAGCCTCC | p.Lys153ThrfsTer22 | p.K153Tfs*22 | Q9H081 | protein_coding | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| MIS12 | SNV | Missense_Mutation | c.394N>G | p.Leu132Val | p.L132V | Q9H081 | protein_coding | tolerated(1) | benign(0.019) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| MIS12 | SNV | Missense_Mutation | c.602N>A | p.Arg201Gln | p.R201Q | Q9H081 | protein_coding | tolerated(0.11) | benign(0.026) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| MIS12 | SNV | Missense_Mutation | novel | c.243N>T | p.Lys81Asn | p.K81N | Q9H081 | protein_coding | deleterious(0.03) | possibly_damaging(0.475) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MIS12 | SNV | Missense_Mutation | novel | c.329N>A | p.Ser110Asn | p.S110N | Q9H081 | protein_coding | tolerated(0.16) | benign(0.009) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| MIS12 | SNV | Missense_Mutation | novel | c.151C>A | p.Pro51Thr | p.P51T | Q9H081 | protein_coding | deleterious(0) | benign(0.185) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
| MIS12 | SNV | Missense_Mutation | novel | c.608N>T | p.Lys203Ile | p.K203I | Q9H081 | protein_coding | deleterious(0) | possibly_damaging(0.606) | TCGA-EY-A1GQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | taxol | SD |
| MIS12 | SNV | Missense_Mutation | c.313A>G | p.Lys105Glu | p.K105E | Q9H081 | protein_coding | tolerated(0.06) | benign(0.006) | TCGA-91-6830-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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