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Gene: KHDC1L |
Gene summary for KHDC1L |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | KHDC1L | Gene ID | 100129128 |
| Gene name | KH domain containing 1 like | |
| Gene Alias | KHDC1L | |
| Cytomap | 6q13 | |
| Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q5JSQ8 |
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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 |
| 100129128 | KHDC1L | P15T-E | Human | Esophagus | ESCC | 1.31e-02 | 1.05e-01 | 0.1149 |
| 100129128 | KHDC1L | P17T-E | Human | Esophagus | ESCC | 2.68e-03 | 2.22e-01 | 0.1278 |
| 100129128 | KHDC1L | P20T-E | Human | Esophagus | ESCC | 1.19e-07 | 1.84e-01 | 0.1124 |
| 100129128 | KHDC1L | P21T-E | Human | Esophagus | ESCC | 9.35e-10 | 2.12e-01 | 0.1617 |
| 100129128 | KHDC1L | P23T-E | Human | Esophagus | ESCC | 1.66e-06 | 2.28e-01 | 0.108 |
| 100129128 | KHDC1L | P26T-E | Human | Esophagus | ESCC | 7.90e-03 | 1.04e-01 | 0.1276 |
| 100129128 | KHDC1L | P27T-E | Human | Esophagus | ESCC | 1.66e-02 | 1.21e-01 | 0.1055 |
| 100129128 | KHDC1L | P28T-E | Human | Esophagus | ESCC | 1.88e-11 | 2.31e-01 | 0.1149 |
| 100129128 | KHDC1L | P37T-E | Human | Esophagus | ESCC | 4.28e-02 | 8.18e-02 | 0.1371 |
| 100129128 | KHDC1L | P38T-E | Human | Esophagus | ESCC | 7.29e-43 | 1.91e+00 | 0.127 |
| 100129128 | KHDC1L | P52T-E | Human | Esophagus | ESCC | 8.40e-04 | 1.04e-01 | 0.1555 |
| 100129128 | KHDC1L | P74T-E | Human | Esophagus | ESCC | 1.63e-16 | 4.35e-01 | 0.1479 |
| 100129128 | KHDC1L | P83T-E | Human | Esophagus | ESCC | 6.97e-08 | 2.61e-01 | 0.1738 |
| 100129128 | KHDC1L | P89T-E | Human | Esophagus | ESCC | 4.86e-05 | 2.98e-01 | 0.1752 |
| 100129128 | KHDC1L | P91T-E | Human | Esophagus | ESCC | 1.76e-08 | 7.16e-01 | 0.1828 |
| 100129128 | KHDC1L | P107T-E | Human | Esophagus | ESCC | 7.69e-13 | 3.17e-01 | 0.171 |
| 100129128 | KHDC1L | P126T-E | Human | Esophagus | ESCC | 6.92e-05 | 3.96e-01 | 0.1125 |
| 100129128 | KHDC1L | P128T-E | Human | Esophagus | ESCC | 1.42e-39 | 1.25e+00 | 0.1241 |
| 100129128 | KHDC1L | P130T-E | Human | Esophagus | ESCC | 1.75e-25 | 5.59e-01 | 0.1676 |
| 100129128 | KHDC1L | C04 | Human | Oral cavity | OSCC | 3.92e-12 | 5.29e-01 | 0.2633 |
| Page: 1 2 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
| GO:2000116111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity | 158/8552 | 235/18723 | 1.67e-11 | 5.90e-10 | 158 |
| GO:0043281111 | Esophagus | ESCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 143/8552 | 209/18723 | 2.12e-11 | 7.31e-10 | 143 |
| GO:0010952111 | Esophagus | ESCC | positive regulation of peptidase activity | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
| GO:0052547111 | Esophagus | ESCC | regulation of peptidase activity | 275/8552 | 461/18723 | 7.54e-10 | 1.88e-08 | 275 |
| GO:0052548111 | Esophagus | ESCC | regulation of endopeptidase activity | 253/8552 | 432/18723 | 3.68e-08 | 6.78e-07 | 253 |
| GO:0010950111 | Esophagus | ESCC | positive regulation of endopeptidase activity | 116/8552 | 179/18723 | 1.77e-07 | 2.79e-06 | 116 |
| GO:0043280110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 84/8552 | 129/18723 | 6.38e-06 | 6.55e-05 | 84 |
| GO:2001056110 | Esophagus | ESCC | positive regulation of cysteine-type endopeptidase activity | 94/8552 | 148/18723 | 8.87e-06 | 8.59e-05 | 94 |
| GO:000691915 | Esophagus | ESCC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 54/8552 | 78/18723 | 2.17e-05 | 1.87e-04 | 54 |
| GO:004586220 | Oral cavity | OSCC | positive regulation of proteolysis | 236/7305 | 372/18723 | 6.53e-22 | 1.38e-19 | 236 |
| GO:200011620 | Oral cavity | OSCC | regulation of cysteine-type endopeptidase activity | 152/7305 | 235/18723 | 1.14e-15 | 8.13e-14 | 152 |
| GO:004328120 | Oral cavity | OSCC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 137/7305 | 209/18723 | 5.94e-15 | 3.80e-13 | 137 |
| GO:005254720 | Oral cavity | OSCC | regulation of peptidase activity | 255/7305 | 461/18723 | 5.78e-13 | 2.75e-11 | 255 |
| GO:001095220 | Oral cavity | OSCC | positive regulation of peptidase activity | 123/7305 | 197/18723 | 2.12e-11 | 7.21e-10 | 123 |
| GO:005254820 | Oral cavity | OSCC | regulation of endopeptidase activity | 235/7305 | 432/18723 | 4.35e-11 | 1.40e-09 | 235 |
| GO:001095019 | Oral cavity | OSCC | positive regulation of endopeptidase activity | 107/7305 | 179/18723 | 1.38e-08 | 2.78e-07 | 107 |
| GO:200105618 | Oral cavity | OSCC | positive regulation of cysteine-type endopeptidase activity | 88/7305 | 148/18723 | 3.59e-07 | 5.40e-06 | 88 |
| GO:004328018 | Oral cavity | OSCC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 78/7305 | 129/18723 | 6.35e-07 | 9.03e-06 | 78 |
| GO:00069196 | Oral cavity | OSCC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 47/7305 | 78/18723 | 1.16e-04 | 8.42e-04 | 47 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| Page: 1 |
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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 |
| KHDC1L | SNV | Missense_Mutation | c.289G>A | p.Ala97Thr | p.A97T | Q5JSQ8 | protein_coding | tolerated(0.2) | benign(0.217) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| KHDC1L | SNV | Missense_Mutation | rs573967311 | c.358N>A | p.Val120Ile | p.V120I | Q5JSQ8 | protein_coding | tolerated(0.44) | benign(0) | TCGA-A6-6650-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KHDC1L | SNV | Missense_Mutation | c.52G>A | p.Glu18Lys | p.E18K | Q5JSQ8 | protein_coding | deleterious(0.01) | benign(0.086) | TCGA-AA-3977-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| KHDC1L | SNV | Missense_Mutation | c.52N>A | p.Glu18Lys | p.E18K | Q5JSQ8 | protein_coding | deleterious(0.01) | benign(0.086) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR | |
| KHDC1L | SNV | Missense_Mutation | novel | c.355T>C | p.Ser119Pro | p.S119P | Q5JSQ8 | protein_coding | tolerated(0.3) | probably_damaging(0.959) | TCGA-CM-6168-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KHDC1L | SNV | Missense_Mutation | rs779165077 | c.379N>A | p.Gly127Arg | p.G127R | Q5JSQ8 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.998) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| KHDC1L | SNV | Missense_Mutation | c.52N>A | p.Glu18Lys | p.E18K | Q5JSQ8 | protein_coding | deleterious(0.01) | benign(0.086) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| KHDC1L | SNV | Missense_Mutation | c.203N>A | p.Arg68His | p.R68H | Q5JSQ8 | protein_coding | tolerated(0.07) | probably_damaging(0.984) | TCGA-AG-A026-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| KHDC1L | SNV | Missense_Mutation | novel | c.199A>T | p.Thr67Ser | p.T67S | Q5JSQ8 | protein_coding | deleterious(0.03) | probably_damaging(0.953) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| KHDC1L | SNV | Missense_Mutation | c.52N>A | p.Glu18Lys | p.E18K | Q5JSQ8 | protein_coding | deleterious(0.01) | benign(0.086) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | 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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