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Gene: KDELC1 |
Gene summary for KDELC1 |
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Gene information | Species | Human | Gene symbol | KDELC1 | Gene ID | 79070 |
Gene name | protein O-glucosyltransferase 2 | |
Gene Alias | EP58 | |
Cytomap | 13q33.1 | |
Gene Type | protein-coding | GO ID | GO:0006464 | UniProtAcc | Q6UW63 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
79070 | KDELC1 | P2T-E | Human | Esophagus | ESCC | 9.35e-10 | 1.72e-01 | 0.1177 |
79070 | KDELC1 | P4T-E | Human | Esophagus | ESCC | 6.27e-06 | 1.54e-01 | 0.1323 |
79070 | KDELC1 | P10T-E | Human | Esophagus | ESCC | 2.03e-09 | 1.68e-01 | 0.116 |
79070 | KDELC1 | P11T-E | Human | Esophagus | ESCC | 6.74e-09 | 3.60e-01 | 0.1426 |
79070 | KDELC1 | P12T-E | Human | Esophagus | ESCC | 4.31e-06 | 1.39e-01 | 0.1122 |
79070 | KDELC1 | P16T-E | Human | Esophagus | ESCC | 1.78e-03 | 1.27e-01 | 0.1153 |
79070 | KDELC1 | P21T-E | Human | Esophagus | ESCC | 3.97e-04 | 1.09e-01 | 0.1617 |
79070 | KDELC1 | P22T-E | Human | Esophagus | ESCC | 4.31e-06 | 1.51e-01 | 0.1236 |
79070 | KDELC1 | P24T-E | Human | Esophagus | ESCC | 9.20e-06 | 1.34e-01 | 0.1287 |
79070 | KDELC1 | P26T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.60e-01 | 0.1276 |
79070 | KDELC1 | P30T-E | Human | Esophagus | ESCC | 1.02e-02 | 1.31e-01 | 0.137 |
79070 | KDELC1 | P31T-E | Human | Esophagus | ESCC | 3.50e-02 | 5.71e-02 | 0.1251 |
79070 | KDELC1 | P32T-E | Human | Esophagus | ESCC | 4.40e-09 | 1.82e-01 | 0.1666 |
79070 | KDELC1 | P37T-E | Human | Esophagus | ESCC | 4.27e-06 | 1.52e-01 | 0.1371 |
79070 | KDELC1 | P42T-E | Human | Esophagus | ESCC | 2.93e-03 | 1.15e-01 | 0.1175 |
79070 | KDELC1 | P44T-E | Human | Esophagus | ESCC | 6.93e-04 | 1.71e-01 | 0.1096 |
79070 | KDELC1 | P52T-E | Human | Esophagus | ESCC | 1.88e-04 | 1.20e-01 | 0.1555 |
79070 | KDELC1 | P56T-E | Human | Esophagus | ESCC | 3.89e-06 | 5.28e-01 | 0.1613 |
79070 | KDELC1 | P61T-E | Human | Esophagus | ESCC | 1.48e-02 | 8.96e-02 | 0.099 |
79070 | KDELC1 | P62T-E | Human | Esophagus | ESCC | 2.41e-07 | 1.62e-01 | 0.1302 |
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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 |
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 |
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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 |
KDELC1 | SNV | Missense_Mutation | c.820N>A | p.Asp274Asn | p.D274N | Q6UW63 | protein_coding | tolerated(0.07) | possibly_damaging(0.516) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
KDELC1 | SNV | Missense_Mutation | c.328N>G | p.Leu110Val | p.L110V | Q6UW63 | protein_coding | tolerated(0.11) | benign(0.153) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
KDELC1 | SNV | Missense_Mutation | c.832G>A | p.Glu278Lys | p.E278K | Q6UW63 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD | |
KDELC1 | SNV | Missense_Mutation | rs772193403 | c.403N>A | p.Glu135Lys | p.E135K | Q6UW63 | protein_coding | deleterious(0) | possibly_damaging(0.832) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
KDELC1 | SNV | Missense_Mutation | novel | c.790N>C | p.Asp264His | p.D264H | Q6UW63 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-PL-A8LV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KDELC1 | insertion | In_Frame_Ins | novel | c.1111_1112insGGC | p.Thr371delinsArgPro | p.T371delinsRP | Q6UW63 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
KDELC1 | insertion | Frame_Shift_Ins | novel | c.1110_1111insGTGGTGATGGGTGCCTGTAATCCCAGCTACTGGGGAGGCTG | p.Thr371ValfsTer14 | p.T371Vfs*14 | Q6UW63 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
KDELC1 | insertion | Nonsense_Mutation | novel | c.407_408insAGGATGCTACAATGCAGTTAATTGAGAAGACATGGT | p.Asn136delinsLysGlyCysTyrAsnAlaValAsnTerGluAspMetVal | p.N136delinsKGCYNAVN*EDMV | Q6UW63 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD | ||
KDELC1 | deletion | Frame_Shift_Del | novel | c.1306delG | p.Ala436GlnfsTer33 | p.A436Qfs*33 | Q6UW63 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
KDELC1 | SNV | Missense_Mutation | novel | c.453N>A | p.Met151Ile | p.M151I | Q6UW63 | protein_coding | tolerated(0.12) | possibly_damaging(0.57) | TCGA-ZJ-AAXJ-01 | Cervix | cervical & endocervical cancer | 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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