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Gene: SOX9 |
Gene summary for SOX9 |
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Gene information | Species | Human | Gene symbol | SOX9 | Gene ID | 6662 |
Gene name | SRY-box transcription factor 9 | |
Gene Alias | CMD1 | |
Cytomap | 17q24.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P48436 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6662 | SOX9 | P1_S1_AK | Human | Skin | AK | 2.00e-12 | 3.96e-01 | -0.3399 |
6662 | SOX9 | P2_S4_SCCIS | Human | Skin | SCCIS | 5.04e-03 | 2.05e-01 | -0.3043 |
6662 | SOX9 | P5_S10_cSCC | Human | Skin | cSCC | 7.14e-12 | 2.66e-01 | -0.299 |
6662 | SOX9 | P1_cSCC | Human | Skin | cSCC | 1.62e-12 | 4.15e-01 | 0.0292 |
6662 | SOX9 | P2_cSCC | Human | Skin | cSCC | 1.35e-30 | 7.22e-01 | -0.024 |
6662 | SOX9 | P10_cSCC | Human | Skin | cSCC | 2.38e-07 | 2.14e-01 | 0.1017 |
6662 | SOX9 | Adj_PTCwithHT_6 | Human | Thyroid | HT | 1.29e-07 | -4.84e-01 | 0.02 |
6662 | SOX9 | Adj_PTCwithHT_8 | Human | Thyroid | HT | 3.72e-08 | -4.84e-01 | 0.0267 |
6662 | SOX9 | PTCwithHT_1 | Human | Thyroid | HT | 4.25e-02 | -4.84e-01 | 0.0238 |
6662 | SOX9 | PTCwithHT_6 | Human | Thyroid | HT | 1.24e-09 | -4.79e-01 | 0.02 |
6662 | SOX9 | PTCwithHT_8 | Human | Thyroid | HT | 1.29e-07 | -4.84e-01 | 0.0351 |
6662 | SOX9 | PTCwithoutHT_2 | Human | Thyroid | PTC | 5.96e-08 | -4.68e-01 | 0.0419 |
6662 | SOX9 | PTCwithoutHT_7 | Human | Thyroid | PTC | 4.25e-02 | -4.84e-01 | 0.0381 |
6662 | SOX9 | male-WTA | Human | Thyroid | PTC | 1.42e-39 | 9.57e-02 | 0.1037 |
6662 | SOX9 | PTC01 | Human | Thyroid | PTC | 1.41e-03 | -2.03e-01 | 0.1899 |
6662 | SOX9 | PTC05 | Human | Thyroid | PTC | 4.22e-03 | 6.54e-01 | 0.2065 |
6662 | SOX9 | PTC07 | Human | Thyroid | PTC | 6.92e-04 | 1.16e-02 | 0.2044 |
6662 | SOX9 | ATC08 | Human | Thyroid | ATC | 2.18e-04 | -3.67e-01 | 0.0541 |
6662 | SOX9 | ATC09 | Human | Thyroid | ATC | 7.20e-06 | -3.79e-01 | 0.2871 |
6662 | SOX9 | ATC12 | Human | Thyroid | ATC | 4.15e-10 | -3.14e-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:00421769 | Breast | Precancer | regulation of protein catabolic process | 47/1080 | 391/18723 | 1.50e-06 | 5.58e-05 | 47 |
GO:00432549 | Breast | Precancer | regulation of protein-containing complex assembly | 50/1080 | 428/18723 | 1.63e-06 | 5.97e-05 | 50 |
GO:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:00106348 | Breast | Precancer | positive regulation of epithelial cell migration | 25/1080 | 176/18723 | 2.75e-05 | 6.21e-04 | 25 |
GO:00106319 | Breast | Precancer | epithelial cell migration | 40/1080 | 357/18723 | 4.57e-05 | 9.71e-04 | 40 |
GO:00901329 | Breast | Precancer | epithelium migration | 40/1080 | 360/18723 | 5.51e-05 | 1.14e-03 | 40 |
GO:00506736 | Breast | Precancer | epithelial cell proliferation | 46/1080 | 437/18723 | 6.02e-05 | 1.23e-03 | 46 |
GO:00901309 | Breast | Precancer | tissue migration | 40/1080 | 365/18723 | 7.48e-05 | 1.47e-03 | 40 |
GO:00712147 | Breast | Precancer | cellular response to abiotic stimulus | 37/1080 | 331/18723 | 9.12e-05 | 1.73e-03 | 37 |
GO:01040047 | Breast | Precancer | cellular response to environmental stimulus | 37/1080 | 331/18723 | 9.12e-05 | 1.73e-03 | 37 |
GO:00488729 | Breast | Precancer | homeostasis of number of cells | 32/1080 | 272/18723 | 1.03e-04 | 1.89e-03 | 32 |
GO:00018898 | Breast | Precancer | liver development | 21/1080 | 147/18723 | 1.08e-04 | 1.96e-03 | 21 |
GO:00610088 | Breast | Precancer | hepaticobiliary system development | 21/1080 | 150/18723 | 1.45e-04 | 2.49e-03 | 21 |
GO:00106329 | Breast | Precancer | regulation of epithelial cell migration | 33/1080 | 292/18723 | 1.74e-04 | 2.86e-03 | 33 |
GO:00506786 | Breast | Precancer | regulation of epithelial cell proliferation | 40/1080 | 381/18723 | 1.88e-04 | 3.03e-03 | 40 |
GO:00016678 | Breast | Precancer | ameboidal-type cell migration | 47/1080 | 475/18723 | 2.19e-04 | 3.35e-03 | 47 |
GO:00486087 | Breast | Precancer | reproductive structure development | 43/1080 | 424/18723 | 2.36e-04 | 3.56e-03 | 43 |
GO:00098969 | Breast | Precancer | positive regulation of catabolic process | 48/1080 | 492/18723 | 2.62e-04 | 3.84e-03 | 48 |
GO:00085445 | Breast | Precancer | epidermis development | 35/1080 | 324/18723 | 2.71e-04 | 3.96e-03 | 35 |
GO:00614587 | Breast | Precancer | reproductive system development | 43/1080 | 427/18723 | 2.75e-04 | 4.00e-03 | 43 |
Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73 74 75 76 77 78 79 80 81 82 83 84 85 86 87 88 89 90 91 92 93 94 95 96 97 98 99 100 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04024 | Colorectum | FAP | cAMP signaling pathway | 51/1404 | 225/8465 | 1.02e-02 | 3.68e-02 | 2.24e-02 | 51 |
hsa040241 | Colorectum | FAP | cAMP signaling pathway | 51/1404 | 225/8465 | 1.02e-02 | 3.68e-02 | 2.24e-02 | 51 |
hsa040242 | Colorectum | CRC | cAMP signaling pathway | 47/1091 | 225/8465 | 4.57e-04 | 4.77e-03 | 3.23e-03 | 47 |
hsa040243 | Colorectum | CRC | cAMP signaling pathway | 47/1091 | 225/8465 | 4.57e-04 | 4.77e-03 | 3.23e-03 | 47 |
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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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∗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. |
Page: 1 2 3 4 |
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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 |
SOX9 | SNV | Missense_Mutation | c.223N>A | p.Glu75Lys | p.E75K | P48436 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
SOX9 | insertion | Frame_Shift_Ins | novel | c.252_253insG | p.Asp85GlyfsTer167 | p.D85Gfs*167 | P48436 | protein_coding | TCGA-AQ-A7U7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Targeted Molecular therapy | rituximab | CR | ||
SOX9 | SNV | Missense_Mutation | novel | c.970N>G | p.Thr324Ala | p.T324A | P48436 | protein_coding | tolerated(1) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SOX9 | SNV | Missense_Mutation | novel | c.423N>T | p.Lys141Asn | p.K141N | P48436 | protein_coding | deleterious(0.01) | possibly_damaging(0.691) | TCGA-EA-A410-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
SOX9 | SNV | Missense_Mutation | novel | c.841N>A | p.Asp281Asn | p.D281N | P48436 | protein_coding | deleterious(0) | benign(0.125) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SOX9 | SNV | Missense_Mutation | c.810N>A | p.Phe270Leu | p.F270L | P48436 | protein_coding | deleterious(0) | benign(0.079) | TCGA-A6-2680-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SOX9 | SNV | Missense_Mutation | c.358N>T | p.Arg120Cys | p.R120C | P48436 | protein_coding | deleterious(0) | probably_damaging(0.95) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SOX9 | SNV | Missense_Mutation | c.810N>A | p.Phe270Leu | p.F270L | P48436 | protein_coding | deleterious(0) | benign(0.079) | TCGA-A6-4105-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
SOX9 | SNV | Missense_Mutation | rs761747688 | c.838N>G | p.Ser280Gly | p.S280G | P48436 | protein_coding | deleterious(0.01) | possibly_damaging(0.621) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SOX9 | SNV | Missense_Mutation | c.329N>G | p.Asn110Ser | p.N110S | P48436 | protein_coding | deleterious(0) | possibly_damaging(0.652) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | 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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