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Gene: KLHL13 |
Gene summary for KLHL13 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | KLHL13 | Gene ID | 90293 |
| Gene name | kelch like family member 13 | |
| Gene Alias | BKLHD2 | |
| Cytomap | Xq24 | |
| Gene Type | protein-coding | GO ID | GO:0000910 | UniProtAcc | A0A0C4DG99 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 90293 | KLHL13 | CCI_1 | Human | Cervix | CC | 1.87e-03 | 5.03e-01 | 0.528 |
| 90293 | KLHL13 | CCI_2 | Human | Cervix | CC | 1.65e-05 | 6.79e-01 | 0.5249 |
| 90293 | KLHL13 | LZE2T | Human | Esophagus | ESCC | 7.42e-03 | 4.88e-01 | 0.082 |
| 90293 | KLHL13 | LZE4T | Human | Esophagus | ESCC | 4.25e-09 | 2.63e-01 | 0.0811 |
| 90293 | KLHL13 | LZE7T | Human | Esophagus | ESCC | 1.43e-03 | 2.75e-01 | 0.0667 |
| 90293 | KLHL13 | LZE24T | Human | Esophagus | ESCC | 1.80e-16 | 4.18e-01 | 0.0596 |
| 90293 | KLHL13 | P1T-E | Human | Esophagus | ESCC | 4.54e-02 | 1.19e-01 | 0.0875 |
| 90293 | KLHL13 | P2T-E | Human | Esophagus | ESCC | 1.40e-29 | 5.70e-01 | 0.1177 |
| 90293 | KLHL13 | P4T-E | Human | Esophagus | ESCC | 5.70e-09 | 1.64e-01 | 0.1323 |
| 90293 | KLHL13 | P8T-E | Human | Esophagus | ESCC | 1.24e-08 | 1.27e-01 | 0.0889 |
| 90293 | KLHL13 | P9T-E | Human | Esophagus | ESCC | 2.40e-12 | 2.88e-01 | 0.1131 |
| 90293 | KLHL13 | P10T-E | Human | Esophagus | ESCC | 8.73e-14 | 1.42e-01 | 0.116 |
| 90293 | KLHL13 | P12T-E | Human | Esophagus | ESCC | 2.64e-14 | 3.01e-01 | 0.1122 |
| 90293 | KLHL13 | P15T-E | Human | Esophagus | ESCC | 1.25e-06 | 1.77e-01 | 0.1149 |
| 90293 | KLHL13 | P16T-E | Human | Esophagus | ESCC | 8.57e-06 | 8.75e-02 | 0.1153 |
| 90293 | KLHL13 | P20T-E | Human | Esophagus | ESCC | 7.12e-05 | 1.70e-01 | 0.1124 |
| 90293 | KLHL13 | P21T-E | Human | Esophagus | ESCC | 3.73e-09 | 2.09e-01 | 0.1617 |
| 90293 | KLHL13 | P22T-E | Human | Esophagus | ESCC | 9.29e-09 | 1.84e-01 | 0.1236 |
| 90293 | KLHL13 | P23T-E | Human | Esophagus | ESCC | 1.37e-18 | 4.29e-01 | 0.108 |
| 90293 | KLHL13 | P24T-E | Human | Esophagus | ESCC | 2.56e-03 | 6.59e-02 | 0.1287 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00513021 | Cervix | CC | regulation of cell division | 39/2311 | 177/18723 | 2.05e-04 | 2.33e-03 | 39 |
| GO:00009107 | Cervix | CC | cytokinesis | 37/2311 | 173/18723 | 5.40e-04 | 5.23e-03 | 37 |
| GO:0032465 | Cervix | CC | regulation of cytokinesis | 22/2311 | 92/18723 | 1.55e-03 | 1.20e-02 | 22 |
| GO:000091016 | Esophagus | ESCC | cytokinesis | 115/8552 | 173/18723 | 2.48e-08 | 4.68e-07 | 115 |
| GO:00324653 | Esophagus | ESCC | regulation of cytokinesis | 57/8552 | 92/18723 | 1.20e-03 | 5.88e-03 | 57 |
| GO:00513025 | Esophagus | ESCC | regulation of cell division | 97/8552 | 177/18723 | 8.93e-03 | 3.12e-02 | 97 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0412014 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
| hsa0412015 | Cervix | CC | Ubiquitin mediated proteolysis | 49/1267 | 142/8465 | 4.26e-09 | 7.68e-08 | 4.54e-08 | 49 |
| hsa0412027 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
| hsa0412036 | Esophagus | ESCC | Ubiquitin mediated proteolysis | 122/4205 | 142/8465 | 6.53e-20 | 7.29e-18 | 3.74e-18 | 122 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| KLHL13 | SNV | Missense_Mutation | rs758950986 | c.637G>A | p.Glu213Lys | p.E213K | protein_coding | tolerated(0.38) | benign(0.029) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| KLHL13 | SNV | Missense_Mutation | novel | c.957N>A | p.Ser319Arg | p.S319R | protein_coding | tolerated(0.07) | probably_damaging(0.982) | TCGA-AQ-A1H2-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | herceptin | SD | |
| KLHL13 | SNV | Missense_Mutation | c.1538N>G | p.Pro513Arg | p.P513R | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-BH-A0AV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR | ||
| KLHL13 | SNV | Missense_Mutation | rs766735204 | c.1565C>T | p.Ala522Val | p.A522V | protein_coding | deleterious(0.01) | possibly_damaging(0.828) | TCGA-BH-A18T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| KLHL13 | SNV | Missense_Mutation | novel | c.366C>G | p.Phe122Leu | p.F122L | protein_coding | tolerated(0.08) | possibly_damaging(0.47) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR | |
| KLHL13 | SNV | Missense_Mutation | c.494N>G | p.Asp165Gly | p.D165G | protein_coding | tolerated(0.27) | benign(0.003) | TCGA-D8-A1JG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
| KLHL13 | SNV | Missense_Mutation | c.494N>G | p.Asp165Gly | p.D165G | protein_coding | tolerated(0.27) | benign(0.003) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | ||
| KLHL13 | insertion | Nonsense_Mutation | novel | c.684_685insGATAAAAATGTAGTTAGGGTTTTATTTTAAAAC | p.Ala228_Leu229insAspLysAsnValValArgValLeuPheTerAsn | p.A228_L229insDKNVVRVLF*N | protein_coding | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |||
| KLHL13 | insertion | In_Frame_Ins | novel | c.682_683insTAAAAT | p.Ala228delinsValLysSer | p.A228delinsVKS | protein_coding | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |||
| KLHL13 | insertion | Nonsense_Mutation | novel | c.1558_1559insTAGACACACAGGAGAAGTAGC | p.Ile519_Gln520insLeuAspThrGlnGluLysTer | p.I519_Q520insLDTQEK* | protein_coding | TCGA-AO-A0J4-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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