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Gene: CCDC126 |
Gene summary for CCDC126 |
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Gene information | Species | Human | Gene symbol | CCDC126 | Gene ID | 90693 |
Gene name | coiled-coil domain containing 126 | |
Gene Alias | CCDC126 | |
Cytomap | 7p15.3 | |
Gene Type | protein-coding | GO ID | GO:0005575 | UniProtAcc | A0A024RA08 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
90693 | CCDC126 | LZE4T | Human | Esophagus | ESCC | 9.95e-03 | 1.64e-01 | 0.0811 |
90693 | CCDC126 | LZE8T | Human | Esophagus | ESCC | 1.68e-03 | 1.27e-01 | 0.067 |
90693 | CCDC126 | LZE20T | Human | Esophagus | ESCC | 4.68e-02 | 1.25e-01 | 0.0662 |
90693 | CCDC126 | LZE24T | Human | Esophagus | ESCC | 1.55e-08 | 2.70e-01 | 0.0596 |
90693 | CCDC126 | P1T-E | Human | Esophagus | ESCC | 2.77e-02 | 2.13e-01 | 0.0875 |
90693 | CCDC126 | P2T-E | Human | Esophagus | ESCC | 5.37e-21 | 2.46e-01 | 0.1177 |
90693 | CCDC126 | P4T-E | Human | Esophagus | ESCC | 8.98e-12 | 2.63e-01 | 0.1323 |
90693 | CCDC126 | P5T-E | Human | Esophagus | ESCC | 3.55e-02 | 6.87e-03 | 0.1327 |
90693 | CCDC126 | P8T-E | Human | Esophagus | ESCC | 6.00e-24 | 2.45e-01 | 0.0889 |
90693 | CCDC126 | P9T-E | Human | Esophagus | ESCC | 1.38e-06 | 1.07e-01 | 0.1131 |
90693 | CCDC126 | P10T-E | Human | Esophagus | ESCC | 4.96e-19 | 2.82e-01 | 0.116 |
90693 | CCDC126 | P11T-E | Human | Esophagus | ESCC | 2.24e-12 | 4.98e-01 | 0.1426 |
90693 | CCDC126 | P12T-E | Human | Esophagus | ESCC | 2.82e-19 | 3.37e-01 | 0.1122 |
90693 | CCDC126 | P15T-E | Human | Esophagus | ESCC | 7.90e-03 | 1.75e-01 | 0.1149 |
90693 | CCDC126 | P16T-E | Human | Esophagus | ESCC | 1.91e-16 | 1.87e-01 | 0.1153 |
90693 | CCDC126 | P17T-E | Human | Esophagus | ESCC | 2.37e-05 | 2.25e-01 | 0.1278 |
90693 | CCDC126 | P19T-E | Human | Esophagus | ESCC | 5.56e-11 | 4.90e-01 | 0.1662 |
90693 | CCDC126 | P20T-E | Human | Esophagus | ESCC | 3.71e-08 | 2.39e-01 | 0.1124 |
90693 | CCDC126 | P21T-E | Human | Esophagus | ESCC | 3.19e-05 | 6.20e-02 | 0.1617 |
90693 | CCDC126 | P22T-E | Human | Esophagus | ESCC | 8.52e-09 | 2.13e-01 | 0.1236 |
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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 |
CCDC126 | SNV | Missense_Mutation | novel | c.403G>T | p.Val135Phe | p.V135F | Q96EE4 | protein_coding | deleterious_low_confidence(0.04) | benign(0.086) | TCGA-A7-A13E-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Targeted Molecular therapy | bevacizumab | PD |
CCDC126 | insertion | Frame_Shift_Ins | novel | c.197_198insGAAAAACAGTATTAGTCTTAATCTGTAT | p.Asn66LysfsTer36 | p.N66Kfs*36 | Q96EE4 | protein_coding | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD | ||
CCDC126 | SNV | Missense_Mutation | rs146283363 | c.398N>T | p.Thr133Met | p.T133M | Q96EE4 | protein_coding | deleterious_low_confidence(0.04) | benign(0.031) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
CCDC126 | SNV | Missense_Mutation | novel | c.406T>C | p.Ser136Pro | p.S136P | Q96EE4 | protein_coding | tolerated_low_confidence(0.14) | benign(0.374) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
CCDC126 | SNV | Missense_Mutation | novel | c.36N>T | p.Gln12His | p.Q12H | Q96EE4 | protein_coding | tolerated(0.1) | probably_damaging(0.995) | TCGA-B5-A0JY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
CCDC126 | SNV | Missense_Mutation | rs766969695 | c.239C>T | p.Ala80Val | p.A80V | Q96EE4 | protein_coding | tolerated(0.13) | probably_damaging(0.994) | TCGA-BG-A0MQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CCDC126 | SNV | Missense_Mutation | novel | c.164G>T | p.Arg55Ile | p.R55I | Q96EE4 | protein_coding | deleterious(0) | benign(0.373) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC126 | SNV | Missense_Mutation | novel | c.248A>C | p.Lys83Thr | p.K83T | Q96EE4 | protein_coding | deleterious(0.03) | benign(0.42) | TCGA-BK-A6W3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CCDC126 | SNV | Missense_Mutation | novel | c.287N>A | p.Arg96Gln | p.R96Q | Q96EE4 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
CCDC126 | SNV | Missense_Mutation | novel | c.125N>A | p.Ser42Asn | p.S42N | Q96EE4 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-PG-A914-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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