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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:004886317 | Skin | cSCC | stem cell differentiation | 69/4864 | 206/18723 | 9.56e-03 | 4.30e-02 | 69 |
GO:009013025 | Skin | cSCC | tissue migration | 115/4864 | 365/18723 | 9.81e-03 | 4.33e-02 | 115 |
GO:000166727 | Skin | cSCC | ameboidal-type cell migration | 146/4864 | 475/18723 | 1.05e-02 | 4.58e-02 | 146 |
GO:003032417 | Skin | cSCC | lung development | 60/4864 | 177/18723 | 1.14e-02 | 4.97e-02 | 60 |
GO:004217630 | Thyroid | HT | regulation of protein catabolic process | 70/1272 | 391/18723 | 5.96e-14 | 1.66e-11 | 70 |
GO:006053718 | Thyroid | HT | muscle tissue development | 62/1272 | 403/18723 | 1.10e-09 | 1.20e-07 | 62 |
GO:004573230 | Thyroid | HT | positive regulation of protein catabolic process | 40/1272 | 231/18723 | 3.91e-08 | 2.65e-06 | 40 |
GO:000989629 | Thyroid | HT | positive regulation of catabolic process | 63/1272 | 492/18723 | 8.49e-07 | 3.45e-05 | 63 |
GO:000206427 | Thyroid | HT | epithelial cell development | 35/1272 | 220/18723 | 2.12e-06 | 7.61e-05 | 35 |
GO:003450420 | Thyroid | HT | protein localization to nucleus | 42/1272 | 290/18723 | 2.68e-06 | 9.37e-05 | 42 |
GO:006161420 | Thyroid | HT | pri-miRNA transcription by RNA polymerase II | 14/1272 | 55/18723 | 1.29e-05 | 3.32e-04 | 14 |
GO:007149629 | Thyroid | HT | cellular response to external stimulus | 43/1272 | 320/18723 | 1.41e-05 | 3.57e-04 | 43 |
GO:00426929 | Thyroid | HT | muscle cell differentiation | 49/1272 | 384/18723 | 1.52e-05 | 3.78e-04 | 49 |
GO:001604926 | Thyroid | HT | cell growth | 58/1272 | 482/18723 | 1.56e-05 | 3.82e-04 | 58 |
GO:000150320 | Thyroid | HT | ossification | 51/1272 | 408/18723 | 1.81e-05 | 4.29e-04 | 51 |
GO:004887230 | Thyroid | HT | homeostasis of number of cells | 38/1272 | 272/18723 | 1.82e-05 | 4.31e-04 | 38 |
GO:006024917 | Thyroid | HT | anatomical structure homeostasis | 42/1272 | 314/18723 | 1.98e-05 | 4.60e-04 | 42 |
GO:004873228 | Thyroid | HT | gland development | 53/1272 | 436/18723 | 2.71e-05 | 5.97e-04 | 53 |
GO:007136425 | Thyroid | HT | cellular response to epidermal growth factor stimulus | 12/1272 | 45/18723 | 3.23e-05 | 6.88e-04 | 12 |
GO:000268319 | Thyroid | HT | negative regulation of immune system process | 52/1272 | 434/18723 | 4.74e-05 | 9.49e-04 | 52 |
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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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