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Gene: SKI |
Gene summary for SKI |
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Gene information | Species | Human | Gene symbol | SKI | Gene ID | 6497 |
Gene name | SKI proto-oncogene | |
Gene Alias | SGS | |
Cytomap | 1p36.33-p36.32 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | P12755 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6497 | SKI | S016 | Human | Liver | HCC | 1.99e-10 | 4.70e-01 | 0.2243 |
6497 | SKI | S028 | Human | Liver | HCC | 1.25e-09 | 4.61e-01 | 0.2503 |
6497 | SKI | S029 | Human | Liver | HCC | 6.50e-07 | 4.31e-01 | 0.2581 |
6497 | SKI | male-WTA | Human | Thyroid | PTC | 8.43e-36 | 3.86e-01 | 0.1037 |
6497 | SKI | nodule-WTA | Human | Thyroid | goiters | 1.55e-02 | 2.12e-01 | 0.0534 |
6497 | SKI | PTC01 | Human | Thyroid | PTC | 2.22e-09 | 3.23e-02 | 0.1899 |
6497 | SKI | PTC03 | Human | Thyroid | PTC | 5.75e-05 | 1.44e-01 | 0.1784 |
6497 | SKI | PTC04 | Human | Thyroid | PTC | 6.52e-09 | 2.18e-01 | 0.1927 |
6497 | SKI | PTC05 | Human | Thyroid | PTC | 2.13e-13 | 3.56e-01 | 0.2065 |
6497 | SKI | PTC06 | Human | Thyroid | PTC | 1.14e-19 | 3.99e-01 | 0.2057 |
6497 | SKI | PTC07 | Human | Thyroid | PTC | 2.59e-17 | 2.83e-01 | 0.2044 |
6497 | SKI | ATC09 | Human | Thyroid | ATC | 1.75e-07 | 1.71e-01 | 0.2871 |
6497 | SKI | ATC11 | Human | Thyroid | ATC | 1.04e-03 | 3.32e-01 | 0.3386 |
6497 | SKI | ATC12 | Human | Thyroid | ATC | 3.67e-17 | 3.25e-01 | 0.34 |
6497 | SKI | ATC13 | Human | Thyroid | ATC | 4.22e-36 | 5.34e-01 | 0.34 |
6497 | SKI | ATC1 | Human | Thyroid | ATC | 1.85e-08 | 2.10e-01 | 0.2878 |
6497 | SKI | ATC2 | Human | Thyroid | ATC | 3.11e-05 | 6.47e-01 | 0.34 |
6497 | SKI | ATC3 | Human | Thyroid | ATC | 4.79e-05 | 3.52e-01 | 0.338 |
6497 | SKI | ATC4 | Human | Thyroid | ATC | 1.80e-25 | 4.38e-01 | 0.34 |
6497 | SKI | ATC5 | Human | Thyroid | ATC | 6.26e-36 | 5.86e-01 | 0.34 |
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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:009719310 | Cervix | CC | intrinsic apoptotic signaling pathway | 85/2311 | 288/18723 | 4.56e-15 | 6.46e-12 | 85 |
GO:200123310 | Cervix | CC | regulation of apoptotic signaling pathway | 96/2311 | 356/18723 | 4.08e-14 | 3.05e-11 | 96 |
GO:200124210 | Cervix | CC | regulation of intrinsic apoptotic signaling pathway | 52/2311 | 164/18723 | 5.06e-11 | 1.01e-08 | 52 |
GO:20012357 | Cervix | CC | positive regulation of apoptotic signaling pathway | 37/2311 | 126/18723 | 2.70e-07 | 1.12e-05 | 37 |
GO:009719110 | Cervix | CC | extrinsic apoptotic signaling pathway | 52/2311 | 219/18723 | 2.06e-06 | 6.34e-05 | 52 |
GO:004887210 | Cervix | CC | homeostasis of number of cells | 61/2311 | 272/18723 | 2.17e-06 | 6.55e-05 | 61 |
GO:00109757 | Cervix | CC | regulation of neuron projection development | 88/2311 | 445/18723 | 4.26e-06 | 1.09e-04 | 88 |
GO:00107206 | Cervix | CC | positive regulation of cell development | 64/2311 | 298/18723 | 5.69e-06 | 1.41e-04 | 64 |
GO:00313467 | Cervix | CC | positive regulation of cell projection organization | 72/2311 | 353/18723 | 1.04e-05 | 2.32e-04 | 72 |
GO:20012446 | Cervix | CC | positive regulation of intrinsic apoptotic signaling pathway | 20/2311 | 58/18723 | 1.07e-05 | 2.33e-04 | 20 |
GO:00615647 | Cervix | CC | axon development | 89/2311 | 467/18723 | 1.71e-05 | 3.27e-04 | 89 |
GO:200123610 | Cervix | CC | regulation of extrinsic apoptotic signaling pathway | 37/2311 | 151/18723 | 2.80e-05 | 4.65e-04 | 37 |
GO:00017018 | Cervix | CC | in utero embryonic development | 71/2311 | 367/18723 | 7.21e-05 | 1.00e-03 | 71 |
GO:00074097 | Cervix | CC | axonogenesis | 78/2311 | 418/18723 | 1.14e-04 | 1.43e-03 | 78 |
GO:20010209 | Cervix | CC | regulation of response to DNA damage stimulus | 46/2311 | 219/18723 | 1.92e-04 | 2.23e-03 | 46 |
GO:00071786 | Cervix | CC | transmembrane receptor protein serine/threonine kinase signaling pathway | 67/2311 | 355/18723 | 2.39e-04 | 2.67e-03 | 67 |
GO:00507705 | Cervix | CC | regulation of axonogenesis | 34/2311 | 154/18723 | 4.87e-04 | 4.76e-03 | 34 |
GO:00715595 | Cervix | CC | response to transforming growth factor beta | 50/2311 | 256/18723 | 6.31e-04 | 5.91e-03 | 50 |
GO:00715605 | Cervix | CC | cellular response to transforming growth factor beta stimulus | 49/2311 | 250/18723 | 6.55e-04 | 6.05e-03 | 49 |
GO:00086309 | Cervix | CC | intrinsic apoptotic signaling pathway in response to DNA damage | 24/2311 | 99/18723 | 7.93e-04 | 6.99e-03 | 24 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
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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 |
SKI | SNV | Missense_Mutation | novel | c.644N>T | p.Glu215Val | p.E215V | P12755 | protein_coding | deleterious(0.02) | possibly_damaging(0.81) | TCGA-OL-A5D6-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SKI | SNV | Missense_Mutation | c.1435N>A | p.Asp479Asn | p.D479N | P12755 | protein_coding | tolerated(0.06) | benign(0.011) | TCGA-JX-A3Q0-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
SKI | SNV | Missense_Mutation | novel | c.833N>G | p.Ser278Trp | p.S278W | P12755 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-VS-A8QM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
SKI | SNV | Missense_Mutation | rs752151031 | c.1400N>T | p.Thr467Met | p.T467M | P12755 | protein_coding | tolerated(0.15) | benign(0) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
SKI | SNV | Missense_Mutation | c.892G>A | p.Ala298Thr | p.A298T | P12755 | protein_coding | tolerated(0.26) | benign(0.027) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
SKI | SNV | Missense_Mutation | c.1670A>T | p.Glu557Val | p.E557V | P12755 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-DC-4749-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
SKI | SNV | Missense_Mutation | novel | c.1597N>A | p.Asp533Asn | p.D533N | P12755 | protein_coding | tolerated(0.27) | benign(0.059) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SKI | SNV | Missense_Mutation | novel | c.434A>G | p.Glu145Gly | p.E145G | P12755 | protein_coding | deleterious(0) | possibly_damaging(0.553) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
SKI | SNV | Missense_Mutation | novel | c.1945N>A | p.Val649Met | p.V649M | P12755 | protein_coding | deleterious(0.01) | benign(0.38) | TCGA-AX-A2H4-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
SKI | SNV | Missense_Mutation | c.477G>T | p.Glu159Asp | p.E159D | P12755 | protein_coding | tolerated(0.08) | benign(0.007) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
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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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