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Gene: MAD1L1 |
Gene summary for MAD1L1 |
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Gene information | Species | Human | Gene symbol | MAD1L1 | Gene ID | 8379 |
Gene name | mitotic arrest deficient 1 like 1 | |
Gene Alias | MAD1 | |
Cytomap | 7p22.3 | |
Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q9Y6D9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8379 | MAD1L1 | Tumor | Human | Cervix | CC | 3.91e-23 | 4.82e-01 | 0.1241 |
8379 | MAD1L1 | sample3 | Human | Cervix | CC | 1.91e-35 | 5.60e-01 | 0.1387 |
8379 | MAD1L1 | T3 | Human | Cervix | CC | 3.98e-30 | 5.62e-01 | 0.1389 |
8379 | MAD1L1 | LZE4T | Human | Esophagus | ESCC | 3.18e-05 | 1.54e-01 | 0.0811 |
8379 | MAD1L1 | LZE7T | Human | Esophagus | ESCC | 2.07e-15 | 5.45e-01 | 0.0667 |
8379 | MAD1L1 | LZE8T | Human | Esophagus | ESCC | 2.72e-03 | 1.14e-01 | 0.067 |
8379 | MAD1L1 | LZE21D1 | Human | Esophagus | HGIN | 4.41e-04 | 2.78e-01 | 0.0632 |
8379 | MAD1L1 | LZE22T | Human | Esophagus | ESCC | 1.40e-06 | 2.90e-01 | 0.068 |
8379 | MAD1L1 | LZE24T | Human | Esophagus | ESCC | 1.28e-07 | 2.01e-01 | 0.0596 |
8379 | MAD1L1 | LZE21T | Human | Esophagus | ESCC | 9.73e-05 | 2.12e-01 | 0.0655 |
8379 | MAD1L1 | LZE6T | Human | Esophagus | ESCC | 1.55e-08 | 2.48e-01 | 0.0845 |
8379 | MAD1L1 | P1T-E | Human | Esophagus | ESCC | 7.43e-09 | 3.12e-01 | 0.0875 |
8379 | MAD1L1 | P2T-E | Human | Esophagus | ESCC | 3.34e-20 | 3.27e-01 | 0.1177 |
8379 | MAD1L1 | P4T-E | Human | Esophagus | ESCC | 2.45e-12 | 2.48e-01 | 0.1323 |
8379 | MAD1L1 | P5T-E | Human | Esophagus | ESCC | 3.74e-18 | 2.87e-01 | 0.1327 |
8379 | MAD1L1 | P8T-E | Human | Esophagus | ESCC | 7.27e-21 | 1.67e-01 | 0.0889 |
8379 | MAD1L1 | P9T-E | Human | Esophagus | ESCC | 2.79e-12 | 2.90e-01 | 0.1131 |
8379 | MAD1L1 | P10T-E | Human | Esophagus | ESCC | 2.38e-14 | 2.28e-01 | 0.116 |
8379 | MAD1L1 | P11T-E | Human | Esophagus | ESCC | 2.05e-22 | 5.78e-01 | 0.1426 |
8379 | MAD1L1 | P12T-E | Human | Esophagus | ESCC | 4.40e-24 | 4.98e-01 | 0.1122 |
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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:014001416 | Thyroid | ATC | mitotic nuclear division | 171/6293 | 287/18723 | 1.13e-19 | 1.66e-17 | 171 |
GO:003304423 | Thyroid | ATC | regulation of chromosome organization | 119/6293 | 187/18723 | 3.55e-17 | 3.40e-15 | 119 |
GO:004477219 | Thyroid | ATC | mitotic cell cycle phase transition | 223/6293 | 424/18723 | 3.46e-16 | 2.88e-14 | 223 |
GO:000007013 | Thyroid | ATC | mitotic sister chromatid segregation | 108/6293 | 168/18723 | 3.53e-16 | 2.90e-14 | 108 |
GO:000734622 | Thyroid | ATC | regulation of mitotic cell cycle | 236/6293 | 457/18723 | 7.58e-16 | 5.92e-14 | 236 |
GO:005165625 | Thyroid | ATC | establishment of organelle localization | 206/6293 | 390/18723 | 2.62e-15 | 1.84e-13 | 206 |
GO:000081913 | Thyroid | ATC | sister chromatid segregation | 122/6293 | 202/18723 | 4.71e-15 | 3.17e-13 | 122 |
GO:000705913 | Thyroid | ATC | chromosome segregation | 183/6293 | 346/18723 | 8.03e-14 | 4.23e-12 | 183 |
GO:001063926 | Thyroid | ATC | negative regulation of organelle organization | 179/6293 | 348/18723 | 3.74e-12 | 1.50e-10 | 179 |
GO:190199015 | Thyroid | ATC | regulation of mitotic cell cycle phase transition | 156/6293 | 299/18723 | 2.19e-11 | 7.80e-10 | 156 |
GO:004873233 | Thyroid | ATC | gland development | 210/6293 | 436/18723 | 1.50e-10 | 4.59e-09 | 210 |
GO:005198311 | Thyroid | ATC | regulation of chromosome segregation | 60/6293 | 91/18723 | 2.83e-10 | 8.10e-09 | 60 |
GO:009881312 | Thyroid | ATC | nuclear chromosome segregation | 145/6293 | 281/18723 | 3.06e-10 | 8.61e-09 | 145 |
GO:003007111 | Thyroid | ATC | regulation of mitotic metaphase/anaphase transition | 44/6293 | 60/18723 | 3.54e-10 | 9.86e-09 | 44 |
GO:000709111 | Thyroid | ATC | metaphase/anaphase transition of mitotic cell cycle | 45/6293 | 62/18723 | 3.93e-10 | 1.08e-08 | 45 |
GO:004828512 | Thyroid | ATC | organelle fission | 229/6293 | 488/18723 | 4.79e-10 | 1.29e-08 | 229 |
GO:190581811 | Thyroid | ATC | regulation of chromosome separation | 50/6293 | 72/18723 | 5.42e-10 | 1.45e-08 | 50 |
GO:001096511 | Thyroid | ATC | regulation of mitotic sister chromatid separation | 46/6293 | 65/18723 | 9.91e-10 | 2.55e-08 | 46 |
GO:005130611 | Thyroid | ATC | mitotic sister chromatid separation | 47/6293 | 67/18723 | 1.05e-09 | 2.67e-08 | 47 |
GO:000028011 | Thyroid | ATC | nuclear division | 207/6293 | 439/18723 | 1.98e-09 | 4.80e-08 | 207 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0516620 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa05166110 | Cervix | CC | Human T-cell leukemia virus 1 infection | 61/1267 | 222/8465 | 8.13e-07 | 7.98e-06 | 4.72e-06 | 61 |
hsa052039 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
hsa0516639 | Esophagus | HGIN | Human T-cell leukemia virus 1 infection | 51/1383 | 222/8465 | 5.84e-03 | 4.05e-02 | 3.22e-02 | 51 |
hsa041109 | Esophagus | HGIN | Cell cycle | 38/1383 | 157/8465 | 6.70e-03 | 4.37e-02 | 3.47e-02 | 38 |
hsa0520315 | Esophagus | HGIN | Viral carcinogenesis | 53/1383 | 204/8465 | 2.58e-04 | 2.71e-03 | 2.15e-03 | 53 |
hsa05166114 | Esophagus | HGIN | Human T-cell leukemia virus 1 infection | 51/1383 | 222/8465 | 5.84e-03 | 4.05e-02 | 3.22e-02 | 51 |
hsa0411016 | Esophagus | HGIN | Cell cycle | 38/1383 | 157/8465 | 6.70e-03 | 4.37e-02 | 3.47e-02 | 38 |
hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa05166211 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa0520325 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
hsa041146 | Esophagus | ESCC | Oocyte meiosis | 77/4205 | 131/8465 | 2.19e-02 | 4.80e-02 | 2.46e-02 | 77 |
hsa0411033 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
hsa05166310 | Esophagus | ESCC | Human T-cell leukemia virus 1 infection | 164/4205 | 222/8465 | 8.13e-14 | 2.09e-12 | 1.07e-12 | 164 |
hsa0520335 | Esophagus | ESCC | Viral carcinogenesis | 137/4205 | 204/8465 | 2.47e-07 | 1.88e-06 | 9.62e-07 | 137 |
hsa0411411 | Esophagus | ESCC | Oocyte meiosis | 77/4205 | 131/8465 | 2.19e-02 | 4.80e-02 | 2.46e-02 | 77 |
hsa041102 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
hsa0516622 | Liver | HCC | Human T-cell leukemia virus 1 infection | 139/4020 | 222/8465 | 3.17e-06 | 2.79e-05 | 1.55e-05 | 139 |
hsa052032 | Liver | HCC | Viral carcinogenesis | 117/4020 | 204/8465 | 2.68e-03 | 8.98e-03 | 5.00e-03 | 117 |
hsa041103 | Liver | HCC | Cell cycle | 106/4020 | 157/8465 | 2.54e-07 | 3.04e-06 | 1.69e-06 | 106 |
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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 |
MAD1L1 | SNV | Missense_Mutation | rs747276194 | c.1582N>T | p.Arg528Trp | p.R528W | Q9Y6D9 | protein_coding | deleterious(0) | probably_damaging(0.919) | TCGA-A2-A0YJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | PD |
MAD1L1 | SNV | Missense_Mutation | novel | c.550N>A | p.Glu184Lys | p.E184K | Q9Y6D9 | protein_coding | deleterious(0.03) | benign(0.339) | TCGA-AC-A62V-01 | Breast | breast invasive carcinoma | Male | <65 | III/IV | Targeted Molecular therapy | denosumab | PD |
MAD1L1 | SNV | Missense_Mutation | rs765227766 | c.754N>T | p.Leu252Phe | p.L252F | Q9Y6D9 | protein_coding | tolerated(0.3) | benign(0.011) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MAD1L1 | SNV | Missense_Mutation | c.1842N>C | p.Lys614Asn | p.K614N | Q9Y6D9 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-D8-A1JC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
MAD1L1 | SNV | Missense_Mutation | rs775755086 | c.2084N>A | p.Arg695Gln | p.R695Q | Q9Y6D9 | protein_coding | tolerated(0.41) | benign(0.001) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
MAD1L1 | SNV | Missense_Mutation | novel | c.839N>T | p.Gln280Leu | p.Q280L | Q9Y6D9 | protein_coding | deleterious(0.01) | benign(0.007) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
MAD1L1 | deletion | Frame_Shift_Del | novel | c.1563delN | p.Met521IlefsTer25 | p.M521Ifs*25 | Q9Y6D9 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
MAD1L1 | deletion | Frame_Shift_Del | novel | c.1163delN | p.Glu388GlyfsTer35 | p.E388Gfs*35 | Q9Y6D9 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
MAD1L1 | SNV | Missense_Mutation | rs371561369 | c.1666C>T | p.Arg556Cys | p.R556C | Q9Y6D9 | protein_coding | deleterious(0.02) | possibly_damaging(0.622) | TCGA-EA-A3HS-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MAD1L1 | SNV | Missense_Mutation | rs377555260 | c.1531N>A | p.Glu511Lys | p.E511K | Q9Y6D9 | protein_coding | tolerated(0.09) | possibly_damaging(0.816) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | 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 |
8379 | MAD1L1 | NA | carboplatin | CARBOPLATIN | 23407047 | |
8379 | MAD1L1 | NA | paclitaxel | PACLITAXEL | 23407047 |
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