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Gene: GJA3 |
Gene summary for GJA3 |
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Gene information | Species | Human | Gene symbol | GJA3 | Gene ID | 2700 |
Gene name | gap junction protein alpha 3 | |
Gene Alias | CTRCT14 | |
Cytomap | 13q12.11 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q9Y6H8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2700 | GJA3 | P22T-E | Human | Esophagus | ESCC | 1.79e-02 | 9.40e-02 | 0.1236 |
2700 | GJA3 | P26T-E | Human | Esophagus | ESCC | 9.13e-03 | 4.07e-02 | 0.1276 |
2700 | GJA3 | P28T-E | Human | Esophagus | ESCC | 1.40e-02 | 3.85e-02 | 0.1149 |
2700 | GJA3 | P32T-E | Human | Esophagus | ESCC | 2.05e-06 | 7.89e-02 | 0.1666 |
2700 | GJA3 | P37T-E | Human | Esophagus | ESCC | 6.05e-08 | 1.96e-01 | 0.1371 |
2700 | GJA3 | P49T-E | Human | Esophagus | ESCC | 1.65e-10 | 5.64e-01 | 0.1768 |
2700 | GJA3 | P89T-E | Human | Esophagus | ESCC | 4.36e-04 | 3.37e-01 | 0.1752 |
2700 | GJA3 | P91T-E | Human | Esophagus | ESCC | 1.76e-08 | 7.39e-01 | 0.1828 |
2700 | GJA3 | P107T-E | Human | Esophagus | ESCC | 3.84e-08 | 1.79e-01 | 0.171 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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 |
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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 |
GJA3 | insertion | Frame_Shift_Ins | novel | c.188_189insT | p.Val64ArgfsTer262 | p.V64Rfs*262 | Q9Y6H8 | protein_coding | TCGA-E9-A1NI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | ||
GJA3 | insertion | Frame_Shift_Ins | novel | c.187_188insTGTGGGCCTTAGTGTCCCACAGCTTA | p.Asn63MetfsTer62 | p.N63Mfs*62 | Q9Y6H8 | protein_coding | TCGA-E9-A1NI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR | ||
GJA3 | SNV | Missense_Mutation | novel | c.538C>T | p.Arg180Cys | p.R180C | Q9Y6H8 | protein_coding | deleterious(0) | probably_damaging(0.935) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
GJA3 | SNV | Missense_Mutation | rs755792418 | c.439C>T | p.Arg147Trp | p.R147W | Q9Y6H8 | protein_coding | deleterious(0) | benign(0.16) | TCGA-C5-A7X8-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
GJA3 | SNV | Missense_Mutation | novel | c.595G>A | p.Glu199Lys | p.E199K | Q9Y6H8 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
GJA3 | SNV | Missense_Mutation | novel | c.214N>G | p.Ile72Val | p.I72V | Q9Y6H8 | protein_coding | deleterious(0.04) | possibly_damaging(0.836) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
GJA3 | SNV | Missense_Mutation | c.376N>T | p.Pro126Ser | p.P126S | Q9Y6H8 | protein_coding | tolerated(0.68) | benign(0) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GJA3 | SNV | Missense_Mutation | rs864309687 | c.260N>T | p.Thr87Met | p.T87M | Q9Y6H8 | protein_coding | deleterious(0) | probably_damaging(0.97) | TCGA-CK-6751-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GJA3 | SNV | Missense_Mutation | novel | c.1009C>G | p.Pro337Ala | p.P337A | Q9Y6H8 | protein_coding | tolerated(0.91) | benign(0) | TCGA-D5-5540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GJA3 | SNV | Missense_Mutation | c.397N>T | p.Arg133Trp | p.R133W | Q9Y6H8 | protein_coding | deleterious(0) | benign(0.04) | TCGA-D5-6534-01 | 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 |
2700 | GJA3 | ION CHANNEL, TRANSPORTER | inhibitor | 135652731 | ||
2700 | GJA3 | ION CHANNEL, TRANSPORTER | inhibitor | 135650269 | ||
2700 | GJA3 | ION CHANNEL, TRANSPORTER | inhibitor | 178101095 | OCTANOL | |
2700 | GJA3 | ION CHANNEL, TRANSPORTER | inhibitor | 178100972 | CARBENOXOLONE |
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