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Gene: KLHL12 |
Gene summary for KLHL12 |
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Gene information | Species | Human | Gene symbol | KLHL12 | Gene ID | 59349 |
Gene name | kelch like family member 12 | |
Gene Alias | C3IP1 | |
Cytomap | 1q32.1 | |
Gene Type | protein-coding | GO ID | GO:0001837 | UniProtAcc | Q53G59 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
59349 | KLHL12 | LZE2T | Human | Esophagus | ESCC | 1.37e-02 | 5.38e-01 | 0.082 |
59349 | KLHL12 | LZE4T | Human | Esophagus | ESCC | 4.25e-07 | 2.18e-01 | 0.0811 |
59349 | KLHL12 | LZE7T | Human | Esophagus | ESCC | 1.82e-07 | 3.27e-01 | 0.0667 |
59349 | KLHL12 | LZE22T | Human | Esophagus | ESCC | 6.28e-05 | 3.12e-01 | 0.068 |
59349 | KLHL12 | LZE24T | Human | Esophagus | ESCC | 8.67e-15 | 3.73e-01 | 0.0596 |
59349 | KLHL12 | LZE21T | Human | Esophagus | ESCC | 7.69e-07 | 3.20e-01 | 0.0655 |
59349 | KLHL12 | P1T-E | Human | Esophagus | ESCC | 8.75e-05 | 2.35e-01 | 0.0875 |
59349 | KLHL12 | P2T-E | Human | Esophagus | ESCC | 7.07e-16 | 3.54e-01 | 0.1177 |
59349 | KLHL12 | P4T-E | Human | Esophagus | ESCC | 3.76e-08 | 2.55e-01 | 0.1323 |
59349 | KLHL12 | P5T-E | Human | Esophagus | ESCC | 1.27e-08 | 2.13e-01 | 0.1327 |
59349 | KLHL12 | P8T-E | Human | Esophagus | ESCC | 2.01e-09 | 1.51e-01 | 0.0889 |
59349 | KLHL12 | P9T-E | Human | Esophagus | ESCC | 4.82e-04 | 1.18e-01 | 0.1131 |
59349 | KLHL12 | P10T-E | Human | Esophagus | ESCC | 1.96e-13 | 2.49e-01 | 0.116 |
59349 | KLHL12 | P11T-E | Human | Esophagus | ESCC | 5.08e-07 | 2.84e-01 | 0.1426 |
59349 | KLHL12 | P12T-E | Human | Esophagus | ESCC | 7.80e-19 | 2.39e-01 | 0.1122 |
59349 | KLHL12 | P15T-E | Human | Esophagus | ESCC | 1.35e-22 | 4.24e-01 | 0.1149 |
59349 | KLHL12 | P16T-E | Human | Esophagus | ESCC | 8.40e-17 | 3.16e-01 | 0.1153 |
59349 | KLHL12 | P17T-E | Human | Esophagus | ESCC | 7.04e-07 | 2.30e-01 | 0.1278 |
59349 | KLHL12 | P19T-E | Human | Esophagus | ESCC | 3.04e-03 | 3.21e-01 | 0.1662 |
59349 | KLHL12 | P20T-E | Human | Esophagus | ESCC | 7.49e-03 | 1.22e-01 | 0.1124 |
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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:000690314 | Oral cavity | LP | vesicle targeting | 27/4623 | 45/18723 | 5.03e-07 | 1.40e-05 | 27 |
GO:004820713 | Oral cavity | LP | vesicle targeting, rough ER to cis-Golgi | 12/4623 | 13/18723 | 5.10e-07 | 1.40e-05 | 12 |
GO:004820813 | Oral cavity | LP | COPII vesicle coating | 12/4623 | 13/18723 | 5.10e-07 | 1.40e-05 | 12 |
GO:000690114 | Oral cavity | LP | vesicle coating | 14/4623 | 17/18723 | 9.59e-07 | 2.43e-05 | 14 |
GO:004819913 | Oral cavity | LP | vesicle targeting, to, from or within Golgi | 16/4623 | 21/18723 | 1.02e-06 | 2.53e-05 | 16 |
GO:005165015 | Oral cavity | LP | establishment of vesicle localization | 64/4623 | 161/18723 | 1.65e-05 | 2.86e-04 | 64 |
GO:009011413 | Oral cavity | LP | COPII-coated vesicle budding | 18/4623 | 29/18723 | 2.15e-05 | 3.51e-04 | 18 |
GO:005164814 | Oral cavity | LP | vesicle localization | 66/4623 | 177/18723 | 1.25e-04 | 1.46e-03 | 66 |
GO:001605515 | Oral cavity | LP | Wnt signaling pathway | 140/4623 | 444/18723 | 5.80e-04 | 5.35e-03 | 140 |
GO:000651313 | Oral cavity | LP | protein monoubiquitination | 29/4623 | 67/18723 | 6.51e-04 | 5.90e-03 | 29 |
GO:019873815 | Oral cavity | LP | cell-cell signaling by wnt | 140/4623 | 446/18723 | 7.12e-04 | 6.38e-03 | 140 |
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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 |
KLHL12 | SNV | Missense_Mutation | c.1533C>G | p.Cys511Trp | p.C511W | Q53G59 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-A8-A09N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
KLHL12 | SNV | Missense_Mutation | c.793C>T | p.Arg265Trp | p.R265W | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
KLHL12 | SNV | Missense_Mutation | c.1412T>C | p.Leu471Pro | p.L471P | Q53G59 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-EW-A1P8-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | fluorouracil | PD | |
KLHL12 | deletion | Frame_Shift_Del | novel | c.1378delG | p.Ala460ProfsTer9 | p.A460Pfs*9 | Q53G59 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
KLHL12 | SNV | Missense_Mutation | rs754879214 | c.977C>T | p.Ser326Phe | p.S326F | Q53G59 | protein_coding | deleterious(0.02) | benign(0.025) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
KLHL12 | SNV | Missense_Mutation | c.596C>A | p.Ala199Asp | p.A199D | Q53G59 | protein_coding | deleterious(0.03) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
KLHL12 | SNV | Missense_Mutation | novel | c.580G>C | p.Glu194Gln | p.E194Q | Q53G59 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KLHL12 | SNV | Missense_Mutation | c.949C>T | p.Arg317Cys | p.R317C | Q53G59 | protein_coding | deleterious(0) | benign(0.399) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | |
KLHL12 | SNV | Missense_Mutation | novel | c.166G>C | p.Asp56His | p.D56H | Q53G59 | protein_coding | tolerated(0.05) | probably_damaging(0.998) | TCGA-VS-AA62-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
KLHL12 | SNV | Missense_Mutation | novel | c.958N>T | p.Arg320Cys | p.R320C | Q53G59 | protein_coding | tolerated(0.05) | probably_damaging(0.999) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
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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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