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Gene: MKLN1 |
Gene summary for MKLN1 |
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Gene information | Species | Human | Gene symbol | MKLN1 | Gene ID | 4289 |
Gene name | muskelin 1 | |
Gene Alias | TWA2 | |
Cytomap | 7q32.3 | |
Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | B4DG30 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4289 | MKLN1 | P10T-E | Human | Esophagus | ESCC | 3.54e-38 | 7.59e-01 | 0.116 |
4289 | MKLN1 | P11T-E | Human | Esophagus | ESCC | 3.56e-13 | 6.56e-01 | 0.1426 |
4289 | MKLN1 | P12T-E | Human | Esophagus | ESCC | 5.94e-32 | 7.18e-01 | 0.1122 |
4289 | MKLN1 | P15T-E | Human | Esophagus | ESCC | 1.27e-43 | 1.02e+00 | 0.1149 |
4289 | MKLN1 | P16T-E | Human | Esophagus | ESCC | 2.02e-18 | 2.81e-01 | 0.1153 |
4289 | MKLN1 | P17T-E | Human | Esophagus | ESCC | 1.19e-03 | 2.71e-01 | 0.1278 |
4289 | MKLN1 | P19T-E | Human | Esophagus | ESCC | 4.69e-02 | 3.89e-01 | 0.1662 |
4289 | MKLN1 | P20T-E | Human | Esophagus | ESCC | 1.35e-17 | 3.20e-01 | 0.1124 |
4289 | MKLN1 | P21T-E | Human | Esophagus | ESCC | 5.98e-24 | 4.60e-01 | 0.1617 |
4289 | MKLN1 | P22T-E | Human | Esophagus | ESCC | 3.11e-13 | 2.34e-01 | 0.1236 |
4289 | MKLN1 | P23T-E | Human | Esophagus | ESCC | 1.10e-10 | 3.30e-01 | 0.108 |
4289 | MKLN1 | P24T-E | Human | Esophagus | ESCC | 3.28e-16 | 2.85e-01 | 0.1287 |
4289 | MKLN1 | P26T-E | Human | Esophagus | ESCC | 1.18e-30 | 5.30e-01 | 0.1276 |
4289 | MKLN1 | P27T-E | Human | Esophagus | ESCC | 1.10e-26 | 4.54e-01 | 0.1055 |
4289 | MKLN1 | P28T-E | Human | Esophagus | ESCC | 6.24e-26 | 4.86e-01 | 0.1149 |
4289 | MKLN1 | P30T-E | Human | Esophagus | ESCC | 1.23e-27 | 9.37e-01 | 0.137 |
4289 | MKLN1 | P31T-E | Human | Esophagus | ESCC | 7.41e-21 | 2.96e-01 | 0.1251 |
4289 | MKLN1 | P32T-E | Human | Esophagus | ESCC | 6.85e-31 | 6.13e-01 | 0.1666 |
4289 | MKLN1 | P36T-E | Human | Esophagus | ESCC | 1.97e-16 | 5.67e-01 | 0.1187 |
4289 | MKLN1 | P37T-E | Human | Esophagus | ESCC | 2.25e-18 | 4.16e-01 | 0.1371 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
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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:00315898 | Cervix | CC | cell-substrate adhesion | 96/2311 | 363/18723 | 1.48e-13 | 8.85e-11 | 96 |
GO:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
GO:00071608 | Cervix | CC | cell-matrix adhesion | 60/2311 | 233/18723 | 1.58e-08 | 1.23e-06 | 60 |
GO:00315328 | Cervix | CC | actin cytoskeleton reorganization | 31/2311 | 107/18723 | 3.34e-06 | 8.99e-05 | 31 |
GO:00083608 | Cervix | CC | regulation of cell shape | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:00068987 | Cervix | CC | receptor-mediated endocytosis | 53/2311 | 244/18723 | 2.52e-05 | 4.29e-04 | 53 |
GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
GO:00431127 | Cervix | CC | receptor metabolic process | 37/2311 | 166/18723 | 2.31e-04 | 2.58e-03 | 37 |
GO:00482597 | Cervix | CC | regulation of receptor-mediated endocytosis | 24/2311 | 110/18723 | 3.62e-03 | 2.31e-02 | 24 |
GO:00316236 | Cervix | CC | receptor internalization | 24/2311 | 113/18723 | 5.18e-03 | 3.05e-02 | 24 |
GO:0022604 | Colorectum | AD | regulation of cell morphogenesis | 109/3918 | 309/18723 | 3.08e-09 | 2.07e-07 | 109 |
GO:0031589 | Colorectum | AD | cell-substrate adhesion | 116/3918 | 363/18723 | 4.68e-07 | 1.76e-05 | 116 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:0008360 | Colorectum | AD | regulation of cell shape | 56/3918 | 154/18723 | 7.01e-06 | 1.73e-04 | 56 |
GO:0031532 | Colorectum | AD | actin cytoskeleton reorganization | 41/3918 | 107/18723 | 2.81e-05 | 5.28e-04 | 41 |
GO:0007160 | Colorectum | AD | cell-matrix adhesion | 75/3918 | 233/18723 | 3.56e-05 | 6.45e-04 | 75 |
GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
GO:0048259 | Colorectum | AD | regulation of receptor-mediated endocytosis | 35/3918 | 110/18723 | 4.85e-03 | 3.27e-02 | 35 |
GO:0031623 | Colorectum | AD | receptor internalization | 35/3918 | 113/18723 | 7.72e-03 | 4.66e-02 | 35 |
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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 |
MKLN1 | SNV | Missense_Mutation | novel | c.2102N>G | p.Asp701Gly | p.D701G | Q9UL63 | protein_coding | tolerated(0.36) | benign(0.078) | TCGA-AC-A3EH-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
MKLN1 | SNV | Missense_Mutation | novel | c.533G>A | p.Arg178His | p.R178H | Q9UL63 | protein_coding | deleterious(0) | possibly_damaging(0.833) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MKLN1 | insertion | Nonsense_Mutation | novel | c.1319_1320insCCTAAAGATTTTCAGCATAGTTCCCAGATATTTGGAGTGATTGAG | p.Leu441_Arg442insLysIlePheSerIleValProArgTyrLeuGluTerLeuSerLeu | p.L441_R442insKIFSIVPRYLE*LSL | Q9UL63 | protein_coding | TCGA-AN-A03X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
MKLN1 | deletion | Frame_Shift_Del | novel | c.862delN | p.Phe288LeufsTer18 | p.F288Lfs*18 | Q9UL63 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
MKLN1 | SNV | Missense_Mutation | c.1740N>C | p.Glu580Asp | p.E580D | Q9UL63 | protein_coding | deleterious(0) | possibly_damaging(0.835) | TCGA-AA-3510-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MKLN1 | SNV | Missense_Mutation | c.739N>C | p.Tyr247His | p.Y247H | Q9UL63 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AA-3864-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MKLN1 | SNV | Missense_Mutation | c.425G>A | p.Ser142Asn | p.S142N | Q9UL63 | protein_coding | tolerated(0.24) | benign(0.081) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MKLN1 | SNV | Missense_Mutation | c.1893N>T | p.Leu631Phe | p.L631F | Q9UL63 | protein_coding | deleterious(0.01) | benign(0.036) | TCGA-AA-A02F-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | PR | |
MKLN1 | SNV | Missense_Mutation | novel | c.676N>A | p.Glu226Lys | p.E226K | Q9UL63 | protein_coding | deleterious(0) | possibly_damaging(0.88) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MKLN1 | SNV | Missense_Mutation | novel | c.948C>G | p.Asp316Glu | p.D316E | Q9UL63 | protein_coding | deleterious(0.05) | possibly_damaging(0.803) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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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