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Gene: GJB3 |
Gene summary for GJB3 |
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Gene information | Species | Human | Gene symbol | GJB3 | Gene ID | 2707 |
Gene name | gap junction protein beta 3 | |
Gene Alias | CX31 | |
Cytomap | 1p34.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | O75712 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2707 | GJB3 | P4_S8_cSCC | Human | Skin | cSCC | 1.41e-04 | 2.35e-01 | -0.3095 |
2707 | GJB3 | P1_cSCC | Human | Skin | cSCC | 8.16e-22 | 9.97e-01 | 0.0292 |
2707 | GJB3 | P2_cSCC | Human | Skin | cSCC | 2.33e-13 | 6.48e-01 | -0.024 |
2707 | GJB3 | P4_cSCC | Human | Skin | cSCC | 1.05e-33 | 1.10e+00 | -0.00290000000000005 |
2707 | GJB3 | P10_cSCC | Human | Skin | cSCC | 6.56e-42 | 1.60e+00 | 0.1017 |
2707 | GJB3 | cSCC_p1 | Human | Skin | cSCC | 5.26e-08 | 2.70e-01 | -0.1916 |
2707 | GJB3 | cSCC_p10 | Human | Skin | cSCC | 2.77e-04 | 2.53e-01 | -0.2095 |
2707 | GJB3 | cSCC_p11 | Human | Skin | cSCC | 2.08e-04 | 1.95e-01 | -0.2102 |
2707 | GJB3 | cSCC_p4 | Human | Skin | cSCC | 2.55e-02 | 1.26e-01 | -0.2022 |
2707 | GJB3 | cSCC_p6 | Human | Skin | cSCC | 5.26e-03 | 7.25e-02 | -0.1989 |
2707 | GJB3 | cSCC_p8 | Human | Skin | cSCC | 1.15e-08 | 2.43e-01 | -0.1971 |
2707 | GJB3 | cSCC_p9 | Human | Skin | cSCC | 2.01e-11 | 2.35e-01 | -0.1991 |
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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:00435884 | Cervix | CC | skin development | 71/2311 | 263/18723 | 8.04e-11 | 1.46e-08 | 71 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:00017018 | Cervix | CC | in utero embryonic development | 71/2311 | 367/18723 | 7.21e-05 | 1.00e-03 | 71 |
GO:0001701 | Colorectum | AD | in utero embryonic development | 110/3918 | 367/18723 | 2.36e-05 | 4.62e-04 | 110 |
GO:0001890 | Colorectum | AD | placenta development | 51/3918 | 144/18723 | 3.99e-05 | 7.16e-04 | 51 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0048608 | Colorectum | AD | reproductive structure development | 114/3918 | 424/18723 | 1.78e-03 | 1.47e-02 | 114 |
GO:00018901 | Colorectum | SER | placenta development | 43/2897 | 144/18723 | 9.10e-06 | 3.03e-04 | 43 |
GO:00017011 | Colorectum | SER | in utero embryonic development | 77/2897 | 367/18723 | 2.77e-03 | 2.48e-02 | 77 |
GO:00614581 | Colorectum | SER | reproductive system development | 87/2897 | 427/18723 | 3.69e-03 | 3.07e-02 | 87 |
GO:00486081 | Colorectum | SER | reproductive structure development | 85/2897 | 424/18723 | 6.33e-03 | 4.56e-02 | 85 |
GO:00018902 | Colorectum | MSS | placenta development | 51/3467 | 144/18723 | 1.10e-06 | 3.77e-05 | 51 |
GO:00614582 | Colorectum | MSS | reproductive system development | 115/3467 | 427/18723 | 9.86e-06 | 2.39e-04 | 115 |
GO:00486082 | Colorectum | MSS | reproductive structure development | 113/3467 | 424/18723 | 1.94e-05 | 4.18e-04 | 113 |
GO:00017012 | Colorectum | MSS | in utero embryonic development | 99/3467 | 367/18723 | 3.71e-05 | 7.10e-04 | 99 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0001890110 | Esophagus | ESCC | placenta development | 98/8552 | 144/18723 | 4.46e-08 | 8.11e-07 | 98 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
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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 |
GJB3 | SNV | Missense_Mutation | rs763321092 | c.697N>A | p.Ala233Thr | p.A233T | O75712 | protein_coding | tolerated(0.62) | benign(0) | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GJB3 | SNV | Missense_Mutation | rs147106166 | c.316N>T | p.Arg106Cys | p.R106C | O75712 | protein_coding | deleterious(0.02) | probably_damaging(0.959) | TCGA-D8-A1XZ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen+anastrozolum | SD |
GJB3 | SNV | Missense_Mutation | rs796807027 | c.280N>A | p.His94Asn | p.H94N | O75712 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A1IN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
GJB3 | SNV | Missense_Mutation | novel | c.470A>G | p.Asn157Ser | p.N157S | O75712 | protein_coding | tolerated(0.52) | benign(0.003) | TCGA-E9-A2JS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | PD |
GJB3 | deletion | Frame_Shift_Del | c.131_132delNN | p.Asp46Ter | p.D46* | O75712 | protein_coding | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |||
GJB3 | SNV | Missense_Mutation | rs369979083 | c.317N>A | p.Arg106His | p.R106H | O75712 | protein_coding | tolerated(0.07) | benign(0.141) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
GJB3 | SNV | Missense_Mutation | c.124C>T | p.Arg42Cys | p.R42C | O75712 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GJB3 | SNV | Missense_Mutation | novel | c.455N>A | p.Leu152His | p.L152H | O75712 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
GJB3 | SNV | Missense_Mutation | c.124N>T | p.Arg42Cys | p.R42C | O75712 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-D5-6930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
GJB3 | SNV | Missense_Mutation | rs759759043 | c.478N>T | p.Arg160Cys | p.R160C | O75712 | protein_coding | deleterious(0.02) | probably_damaging(0.923) | TCGA-F4-6806-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | irinotecan | 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 |
2707 | GJB3 | TRANSPORTER, ION CHANNEL | inhibitor | 178101095 | OCTANOL | |
2707 | GJB3 | TRANSPORTER, ION CHANNEL | inhibitor | 178100972 | CARBENOXOLONE | |
2707 | GJB3 | TRANSPORTER, ION CHANNEL | inhibitor | 135650269 | ||
2707 | GJB3 | TRANSPORTER, ION CHANNEL | inhibitor | 135652731 |
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