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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 | C21 | Human | Oral cavity | OSCC | 9.18e-16 | 4.20e-01 | 0.2678 |
100129128 | KHDC1L | C30 | Human | Oral cavity | OSCC | 1.71e-28 | 1.21e+00 | 0.3055 |
100129128 | KHDC1L | C51 | Human | Oral cavity | OSCC | 4.77e-19 | 6.88e-01 | 0.2674 |
100129128 | KHDC1L | C06 | Human | Oral cavity | OSCC | 2.90e-05 | 5.85e-01 | 0.2699 |
100129128 | KHDC1L | C07 | Human | Oral cavity | OSCC | 4.58e-04 | 6.07e-01 | 0.2491 |
100129128 | KHDC1L | LP15 | Human | Oral cavity | LP | 4.58e-04 | 8.93e-01 | 0.2174 |
100129128 | KHDC1L | LP17 | Human | Oral cavity | LP | 6.86e-17 | 1.71e+00 | 0.2349 |
100129128 | KHDC1L | SYSMH2 | Human | Oral cavity | OSCC | 9.03e-10 | 4.20e-01 | 0.2326 |
100129128 | KHDC1L | SYSMH3 | Human | Oral cavity | OSCC | 1.19e-23 | 6.80e-01 | 0.2442 |
100129128 | KHDC1L | SYSMH5 | Human | Oral cavity | OSCC | 1.96e-09 | 3.01e-01 | 0.0647 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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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 |
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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. |
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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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