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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 | GSM4909280 | Human | Breast | Precancer | 8.81e-06 | 5.75e-01 | 0.0305 |
6662 | SOX9 | GSM4909282 | Human | Breast | IDC | 4.00e-24 | 6.87e-01 | -0.0288 |
6662 | SOX9 | GSM4909285 | Human | Breast | IDC | 2.14e-04 | 2.36e-01 | 0.21 |
6662 | SOX9 | GSM4909286 | Human | Breast | IDC | 2.55e-04 | 1.64e-01 | 0.1081 |
6662 | SOX9 | GSM4909287 | Human | Breast | IDC | 9.55e-05 | 3.29e-01 | 0.2057 |
6662 | SOX9 | GSM4909295 | Human | Breast | IDC | 7.27e-10 | 5.86e-01 | 0.0898 |
6662 | SOX9 | GSM4909296 | Human | Breast | IDC | 1.79e-05 | -2.39e-01 | 0.1524 |
6662 | SOX9 | GSM4909297 | Human | Breast | IDC | 1.59e-07 | -3.16e-01 | 0.1517 |
6662 | SOX9 | GSM4909298 | Human | Breast | IDC | 1.34e-24 | 6.51e-01 | 0.1551 |
6662 | SOX9 | GSM4909299 | Human | Breast | IDC | 6.81e-06 | 4.30e-01 | 0.035 |
6662 | SOX9 | GSM4909300 | Human | Breast | IDC | 1.22e-02 | 4.14e-01 | 0.0334 |
6662 | SOX9 | GSM4909301 | Human | Breast | IDC | 1.64e-02 | -2.69e-01 | 0.1577 |
6662 | SOX9 | GSM4909311 | Human | Breast | IDC | 4.78e-16 | -2.44e-01 | 0.1534 |
6662 | SOX9 | GSM4909312 | Human | Breast | IDC | 1.84e-04 | -1.48e-01 | 0.1552 |
6662 | SOX9 | GSM4909313 | Human | Breast | IDC | 1.41e-02 | 2.76e-01 | 0.0391 |
6662 | SOX9 | GSM4909319 | Human | Breast | IDC | 3.49e-23 | -3.80e-01 | 0.1563 |
6662 | SOX9 | GSM4909320 | Human | Breast | IDC | 9.99e-07 | -4.23e-01 | 0.1575 |
6662 | SOX9 | GSM4909321 | Human | Breast | IDC | 1.51e-16 | -3.69e-01 | 0.1559 |
6662 | SOX9 | NCCBC14 | Human | Breast | DCIS | 9.01e-07 | 1.76e-01 | 0.2021 |
6662 | SOX9 | NCCBC5 | Human | Breast | DCIS | 2.85e-10 | -3.52e-01 | 0.2046 |
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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:003087922 | Skin | cSCC | mammary gland development | 53/4864 | 137/18723 | 7.21e-04 | 5.05e-03 | 53 |
GO:004206322 | Skin | cSCC | gliogenesis | 103/4864 | 301/18723 | 8.48e-04 | 5.85e-03 | 103 |
GO:004544513 | Skin | cSCC | myoblast differentiation | 35/4864 | 84/18723 | 1.23e-03 | 7.97e-03 | 35 |
GO:000183822 | Skin | cSCC | embryonic epithelial tube formation | 47/4864 | 121/18723 | 1.26e-03 | 8.18e-03 | 47 |
GO:001633113 | Skin | cSCC | morphogenesis of embryonic epithelium | 55/4864 | 147/18723 | 1.45e-03 | 9.11e-03 | 55 |
GO:00724972 | Skin | cSCC | mesenchymal stem cell differentiation | 8/4864 | 11/18723 | 1.56e-03 | 9.60e-03 | 8 |
GO:006082824 | Skin | cSCC | regulation of canonical Wnt signaling pathway | 87/4864 | 253/18723 | 1.74e-03 | 1.06e-02 | 87 |
GO:001000122 | Skin | cSCC | glial cell differentiation | 78/4864 | 225/18723 | 2.27e-03 | 1.33e-02 | 78 |
GO:002261221 | Skin | cSCC | gland morphogenesis | 45/4864 | 118/18723 | 2.43e-03 | 1.39e-02 | 45 |
GO:003514822 | Skin | cSCC | tube formation | 54/4864 | 148/18723 | 3.00e-03 | 1.66e-02 | 54 |
GO:007217521 | Skin | cSCC | epithelial tube formation | 49/4864 | 132/18723 | 3.06e-03 | 1.68e-02 | 49 |
GO:00711031 | Skin | cSCC | DNA conformation change | 96/4864 | 290/18723 | 3.87e-03 | 2.07e-02 | 96 |
GO:001063125 | Skin | cSCC | epithelial cell migration | 115/4864 | 357/18723 | 4.64e-03 | 2.37e-02 | 115 |
GO:00085845 | Skin | cSCC | male gonad development | 51/4864 | 141/18723 | 4.70e-03 | 2.40e-02 | 51 |
GO:00465465 | Skin | cSCC | development of primary male sexual characteristics | 51/4864 | 142/18723 | 5.52e-03 | 2.73e-02 | 51 |
GO:000721922 | Skin | cSCC | Notch signaling pathway | 60/4864 | 172/18723 | 5.82e-03 | 2.87e-02 | 60 |
GO:009013225 | Skin | cSCC | epithelium migration | 115/4864 | 360/18723 | 6.20e-03 | 3.04e-02 | 115 |
GO:000961224 | Skin | cSCC | response to mechanical stimulus | 73/4864 | 216/18723 | 6.22e-03 | 3.04e-02 | 73 |
GO:006056023 | Skin | cSCC | developmental growth involved in morphogenesis | 78/4864 | 234/18723 | 7.08e-03 | 3.40e-02 | 78 |
GO:0061614110 | Skin | cSCC | pri-miRNA transcription by RNA polymerase II | 23/4864 | 55/18723 | 7.54e-03 | 3.53e-02 | 23 |
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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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