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Gene: KLHDC3 |
Gene summary for KLHDC3 |
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Gene information | Species | Human | Gene symbol | KLHDC3 | Gene ID | 116138 |
Gene name | kelch domain containing 3 | |
Gene Alias | PEAS | |
Cytomap | 6p21.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q9BQ90 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
116138 | KLHDC3 | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.21e-07 | 3.63e-01 | -0.1808 |
116138 | KLHDC3 | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.62e-04 | 3.25e-01 | -0.0811 |
116138 | KLHDC3 | HTA11_78_2000001011 | Human | Colorectum | AD | 2.58e-02 | 2.00e-01 | -0.1088 |
116138 | KLHDC3 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.41e-09 | 3.03e-01 | -0.1954 |
116138 | KLHDC3 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.43e-06 | 3.60e-01 | -0.1207 |
116138 | KLHDC3 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.74e-08 | 3.12e-01 | -0.1464 |
116138 | KLHDC3 | HTA11_866_2000001011 | Human | Colorectum | AD | 4.39e-02 | 2.01e-01 | -0.1001 |
116138 | KLHDC3 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.83e-06 | 2.95e-01 | -0.059 |
116138 | KLHDC3 | HTA11_546_2000001011 | Human | Colorectum | AD | 2.96e-02 | 3.65e-01 | -0.0842 |
116138 | KLHDC3 | HTA11_866_3004761011 | Human | Colorectum | AD | 5.29e-03 | 2.11e-01 | 0.096 |
116138 | KLHDC3 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.02e-02 | 2.26e-01 | 0.0338 |
116138 | KLHDC3 | HTA11_6818_2000001021 | Human | Colorectum | AD | 2.01e-03 | 2.89e-01 | 0.0588 |
116138 | KLHDC3 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 8.10e-04 | 3.32e-01 | 0.281 |
116138 | KLHDC3 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.77e-05 | 2.99e-01 | 0.3859 |
116138 | KLHDC3 | LZE2T | Human | Esophagus | ESCC | 5.25e-06 | 1.41e+00 | 0.082 |
116138 | KLHDC3 | LZE4T | Human | Esophagus | ESCC | 6.37e-05 | 2.56e-01 | 0.0811 |
116138 | KLHDC3 | LZE7T | Human | Esophagus | ESCC | 1.34e-09 | 8.07e-01 | 0.0667 |
116138 | KLHDC3 | LZE8T | Human | Esophagus | ESCC | 1.27e-06 | 2.74e-01 | 0.067 |
116138 | KLHDC3 | LZE22T | Human | Esophagus | ESCC | 2.99e-03 | 3.40e-01 | 0.068 |
116138 | KLHDC3 | LZE24T | Human | Esophagus | ESCC | 3.49e-23 | 6.28e-01 | 0.0596 |
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∗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 |
GO:00002801 | Oral cavity | OSCC | nuclear division | 237/7305 | 439/18723 | 9.62e-11 | 2.90e-09 | 237 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:0010498110 | Oral cavity | LP | proteasomal protein catabolic process | 224/4623 | 490/18723 | 9.57e-25 | 4.00e-22 | 224 |
GO:0043161110 | Oral cavity | LP | proteasome-mediated ubiquitin-dependent protein catabolic process | 190/4623 | 412/18723 | 1.08e-21 | 2.93e-19 | 190 |
GO:004828511 | Oral cavity | LP | organelle fission | 145/4623 | 488/18723 | 6.02e-03 | 3.57e-02 | 145 |
GO:001049828 | Skin | cSCC | proteasomal protein catabolic process | 243/4864 | 490/18723 | 7.85e-30 | 4.10e-27 | 243 |
GO:004316128 | Skin | cSCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 205/4864 | 412/18723 | 1.46e-25 | 4.16e-23 | 205 |
GO:00482854 | Skin | cSCC | organelle fission | 197/4864 | 488/18723 | 1.51e-12 | 8.36e-11 | 197 |
GO:00002803 | Skin | cSCC | nuclear division | 178/4864 | 439/18723 | 1.17e-11 | 5.93e-10 | 178 |
GO:0010498113 | Thyroid | PTC | proteasomal protein catabolic process | 297/5968 | 490/18723 | 4.58e-40 | 9.63e-37 | 297 |
GO:0043161113 | Thyroid | PTC | proteasome-mediated ubiquitin-dependent protein catabolic process | 254/5968 | 412/18723 | 3.91e-36 | 4.54e-33 | 254 |
GO:00482855 | Thyroid | PTC | organelle fission | 188/5968 | 488/18723 | 9.64e-04 | 5.77e-03 | 188 |
GO:00002804 | Thyroid | PTC | nuclear division | 167/5968 | 439/18723 | 3.27e-03 | 1.60e-02 | 167 |
GO:001049832 | Thyroid | ATC | proteasomal protein catabolic process | 309/6293 | 490/18723 | 1.78e-41 | 1.13e-37 | 309 |
GO:0043161210 | Thyroid | ATC | proteasome-mediated ubiquitin-dependent protein catabolic process | 265/6293 | 412/18723 | 7.09e-38 | 1.49e-34 | 265 |
GO:004828512 | Thyroid | ATC | organelle fission | 229/6293 | 488/18723 | 4.79e-10 | 1.29e-08 | 229 |
GO:000028011 | Thyroid | ATC | nuclear division | 207/6293 | 439/18723 | 1.98e-09 | 4.80e-08 | 207 |
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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 |
KLHDC3 | SNV | Missense_Mutation | c.850A>C | p.Lys284Gln | p.K284Q | Q9BQ90 | protein_coding | tolerated(0.4) | benign(0.007) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
KLHDC3 | SNV | Missense_Mutation | c.964N>C | p.Asp322His | p.D322H | Q9BQ90 | protein_coding | tolerated(0.12) | benign(0.076) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
KLHDC3 | deletion | Frame_Shift_Del | novel | c.46delN | p.Asn16ThrfsTer29 | p.N16Tfs*29 | Q9BQ90 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
KLHDC3 | SNV | Missense_Mutation | novel | c.997G>A | p.Asp333Asn | p.D333N | Q9BQ90 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHDC3 | SNV | Missense_Mutation | c.298G>C | p.Gly100Arg | p.G100R | Q9BQ90 | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-C5-A1MJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
KLHDC3 | SNV | Missense_Mutation | novel | c.928A>C | p.Ser310Arg | p.S310R | Q9BQ90 | protein_coding | tolerated(0.07) | probably_damaging(0.999) | TCGA-VS-A9UT-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHDC3 | SNV | Missense_Mutation | novel | c.409G>T | p.Gly137Cys | p.G137C | Q9BQ90 | protein_coding | deleterious(0.01) | possibly_damaging(0.8) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KLHDC3 | SNV | Missense_Mutation | c.730G>T | p.Ala244Ser | p.A244S | Q9BQ90 | protein_coding | deleterious(0.04) | possibly_damaging(0.674) | TCGA-G4-6626-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
KLHDC3 | deletion | Frame_Shift_Del | c.401delN | p.Cys134LeufsTer3 | p.C134Lfs*3 | Q9BQ90 | protein_coding | TCGA-CK-5916-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |||
KLHDC3 | SNV | Missense_Mutation | novel | c.125N>A | p.Arg42His | p.R42H | Q9BQ90 | protein_coding | tolerated(0.06) | possibly_damaging(0.462) | TCGA-A5-A1OF-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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