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Gene: GJB1 |
Gene summary for GJB1 |
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Gene information | Species | Human | Gene symbol | GJB1 | Gene ID | 2705 |
Gene name | gap junction protein beta 1 | |
Gene Alias | CMTX | |
Cytomap | Xq13.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | P08034 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2705 | GJB1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.05e-18 | 6.38e-01 | -0.1808 |
2705 | GJB1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 9.90e-19 | 7.15e-01 | -0.0811 |
2705 | GJB1 | HTA11_78_2000001011 | Human | Colorectum | AD | 8.22e-13 | 4.50e-01 | -0.1088 |
2705 | GJB1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.02e-34 | 7.58e-01 | -0.1954 |
2705 | GJB1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.40e-08 | 7.53e-01 | -0.2602 |
2705 | GJB1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.04e-03 | 7.27e-01 | -0.2196 |
2705 | GJB1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.52e-08 | 3.80e-01 | -0.1207 |
2705 | GJB1 | HTA11_83_2000001011 | Human | Colorectum | SER | 1.53e-17 | 7.23e-01 | -0.1526 |
2705 | GJB1 | HTA11_696_2000001011 | Human | Colorectum | AD | 7.70e-20 | 6.22e-01 | -0.1464 |
2705 | GJB1 | HTA11_866_2000001011 | Human | Colorectum | AD | 2.10e-13 | 3.98e-01 | -0.1001 |
2705 | GJB1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.19e-20 | 6.46e-01 | -0.059 |
2705 | GJB1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.12e-02 | 3.67e-01 | -0.1462 |
2705 | GJB1 | HTA11_546_2000001011 | Human | Colorectum | AD | 2.15e-04 | 4.20e-01 | -0.0842 |
2705 | GJB1 | HTA11_9341_2000001011 | Human | Colorectum | SER | 2.79e-02 | 4.58e-01 | -0.00410000000000005 |
2705 | GJB1 | HTA11_7862_2000001011 | Human | Colorectum | AD | 3.91e-07 | 4.65e-01 | -0.0179 |
2705 | GJB1 | HTA11_866_3004761011 | Human | Colorectum | AD | 2.78e-17 | 5.15e-01 | 0.096 |
2705 | GJB1 | HTA11_4255_2000001011 | Human | Colorectum | SER | 4.22e-07 | 6.47e-01 | 0.0446 |
2705 | GJB1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 6.95e-05 | 7.47e-01 | 0.0451 |
2705 | GJB1 | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.55e-12 | 7.70e-01 | 0.0528 |
2705 | GJB1 | HTA11_7663_2000001011 | Human | Colorectum | SER | 3.01e-12 | 8.38e-01 | 0.0131 |
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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 |
Stomach | WIM | ![]() |
Stomach | SIM | ![]() |
Liver | NAFLD | ![]() |
Liver | Cirrhotic | ![]() |
Liver | HCC | ![]() |
∗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:0045216 | Colorectum | AD | cell-cell junction organization | 80/3918 | 200/18723 | 5.57e-10 | 4.58e-08 | 80 |
GO:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0007043 | Colorectum | AD | cell-cell junction assembly | 57/3918 | 146/18723 | 4.18e-07 | 1.61e-05 | 57 |
GO:0015931 | Colorectum | AD | nucleobase-containing compound transport | 73/3918 | 222/18723 | 2.02e-05 | 4.10e-04 | 73 |
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:0015748 | Colorectum | AD | organophosphate ester transport | 42/3918 | 140/18723 | 7.04e-03 | 4.31e-02 | 42 |
GO:00452161 | Colorectum | SER | cell-cell junction organization | 63/2897 | 200/18723 | 9.15e-09 | 7.80e-07 | 63 |
GO:00070431 | Colorectum | SER | cell-cell junction assembly | 45/2897 | 146/18723 | 2.23e-06 | 9.31e-05 | 45 |
GO:00343291 | Colorectum | SER | cell junction assembly | 100/2897 | 420/18723 | 4.23e-06 | 1.61e-04 | 100 |
GO:00159311 | Colorectum | SER | nucleobase-containing compound transport | 54/2897 | 222/18723 | 3.65e-04 | 5.67e-03 | 54 |
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:00452162 | Colorectum | MSS | cell-cell junction organization | 69/3467 | 200/18723 | 5.07e-08 | 2.70e-06 | 69 |
GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
GO:00159312 | Colorectum | MSS | nucleobase-containing compound transport | 70/3467 | 222/18723 | 1.92e-06 | 6.01e-05 | 70 |
GO:00070432 | Colorectum | MSS | cell-cell junction assembly | 50/3467 | 146/18723 | 4.24e-06 | 1.21e-04 | 50 |
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:00452163 | Colorectum | MSI-H | cell-cell junction organization | 28/1319 | 200/18723 | 3.82e-04 | 8.73e-03 | 28 |
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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 |
GJB1 | SNV | Missense_Mutation | rs104894823 | c.254N>G | p.Ser85Cys | p.S85C | P08034 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GJB1 | SNV | Missense_Mutation | c.238C>A | p.Gln80Lys | p.Q80K | P08034 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-4J-AA1J-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
GJB1 | SNV | Missense_Mutation | c.304N>C | p.Glu102Gln | p.E102Q | P08034 | protein_coding | deleterious(0.01) | possibly_damaging(0.783) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
GJB1 | SNV | Missense_Mutation | rs863224973 | c.319C>T | p.Arg107Trp | p.R107W | P08034 | protein_coding | deleterious(0.01) | possibly_damaging(0.892) | TCGA-MA-AA3W-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GJB1 | SNV | Missense_Mutation | novel | c.751N>G | p.Leu251Val | p.L251V | P08034 | protein_coding | tolerated(0.19) | possibly_damaging(0.828) | TCGA-AA-3872-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD |
GJB1 | SNV | Missense_Mutation | rs749796053 | c.698N>T | p.Ser233Leu | p.S233L | P08034 | protein_coding | tolerated(0.13) | benign(0.003) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJB1 | SNV | Missense_Mutation | rs748095370 | c.508G>A | p.Val170Ile | p.V170I | P08034 | protein_coding | tolerated(0.37) | benign(0.005) | TCGA-AY-A54L-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GJB1 | SNV | Missense_Mutation | c.329N>C | p.Gly110Ala | p.G110A | P08034 | protein_coding | tolerated(0.06) | benign(0.005) | TCGA-CK-4950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folfox | SD | |
GJB1 | SNV | Missense_Mutation | rs201697702 | c.671G>A | p.Arg224His | p.R224H | P08034 | protein_coding | tolerated(0.14) | benign(0) | TCGA-QG-A5YV-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | CR |
GJB1 | SNV | Missense_Mutation | c.793C>T | p.Arg265Cys | p.R265C | P08034 | protein_coding | tolerated(0.1) | possibly_damaging(0.749) | TCGA-WS-AB45-01 | 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 |
2705 | GJB1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | inhibitor | 135652731 | ||
2705 | GJB1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | inhibitor | 178100972 | CARBENOXOLONE | |
2705 | GJB1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | inhibitor | 178101095 | OCTANOL | |
2705 | GJB1 | ION CHANNEL, DRUGGABLE GENOME, TRANSPORTER | inhibitor | 135650269 |
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