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Gene: KIT |
Gene summary for KIT |
Gene summary. |
Gene information | Species | Human | Gene symbol | KIT | Gene ID | 3815 |
Gene name | KIT proto-oncogene, receptor tyrosine kinase | |
Gene Alias | C-Kit | |
Cytomap | 4q12 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024RDA0 |
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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 |
3815 | KIT | CA_HPV_1 | Human | Cervix | CC | 8.43e-19 | -5.22e-01 | 0.0264 |
3815 | KIT | HSIL_HPV_2 | Human | Cervix | HSIL_HPV | 2.69e-05 | 4.16e-03 | 0.0208 |
3815 | KIT | N_HPV_2 | Human | Cervix | N_HPV | 1.74e-04 | -4.11e-01 | -0.0131 |
3815 | KIT | CCI_1 | Human | Cervix | CC | 3.82e-02 | -6.26e-01 | 0.528 |
3815 | KIT | CCI_2 | Human | Cervix | CC | 1.64e-03 | -6.47e-01 | 0.5249 |
3815 | KIT | CCI_3 | Human | Cervix | CC | 6.60e-06 | -6.47e-01 | 0.516 |
3815 | KIT | CCII_1 | Human | Cervix | CC | 7.51e-09 | -6.47e-01 | 0.3249 |
3815 | KIT | Tumor | Human | Cervix | CC | 2.56e-26 | -6.47e-01 | 0.1241 |
3815 | KIT | sample1 | Human | Cervix | CC | 4.04e-07 | -6.47e-01 | 0.0959 |
3815 | KIT | sample3 | Human | Cervix | CC | 2.05e-24 | -6.47e-01 | 0.1387 |
3815 | KIT | H2 | Human | Cervix | HSIL_HPV | 4.26e-21 | -6.30e-01 | 0.0632 |
3815 | KIT | L1 | Human | Cervix | CC | 7.11e-10 | -6.47e-01 | 0.0802 |
3815 | KIT | T1 | Human | Cervix | CC | 3.62e-15 | -6.42e-01 | 0.0918 |
3815 | KIT | T3 | Human | Cervix | CC | 1.16e-23 | -6.47e-01 | 0.1389 |
3815 | KIT | C46 | Human | Oral cavity | OSCC | 4.79e-03 | 5.01e-02 | 0.1673 |
3815 | KIT | LN46 | Human | Oral cavity | OSCC | 2.27e-04 | 1.34e-01 | 0.1666 |
3815 | KIT | EOLP-1 | Human | Oral cavity | EOLP | 1.56e-14 | 6.63e-01 | -0.0202 |
3815 | KIT | EOLP-2 | Human | Oral cavity | EOLP | 2.93e-21 | 8.39e-01 | -0.0203 |
3815 | KIT | NEOLP-1 | Human | Oral cavity | NEOLP | 6.26e-04 | 4.10e-01 | -0.0194 |
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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:002260410 | Cervix | CC | regulation of cell morphogenesis | 84/2311 | 309/18723 | 1.00e-12 | 4.29e-10 | 84 |
GO:009013210 | Cervix | CC | epithelium migration | 90/2311 | 360/18723 | 2.45e-11 | 6.11e-09 | 90 |
GO:00016679 | Cervix | CC | ameboidal-type cell migration | 110/2311 | 475/18723 | 2.66e-11 | 6.36e-09 | 110 |
GO:001063110 | Cervix | CC | epithelial cell migration | 89/2311 | 357/18723 | 3.72e-11 | 8.54e-09 | 89 |
GO:009013010 | Cervix | CC | tissue migration | 90/2311 | 365/18723 | 5.42e-11 | 1.05e-08 | 90 |
GO:00421108 | Cervix | CC | T cell activation | 107/2311 | 487/18723 | 1.24e-09 | 1.46e-07 | 107 |
GO:00506737 | Cervix | CC | epithelial cell proliferation | 98/2311 | 437/18723 | 2.01e-09 | 2.15e-07 | 98 |
GO:003367410 | Cervix | CC | positive regulation of kinase activity | 101/2311 | 467/18723 | 8.66e-09 | 7.22e-07 | 101 |
GO:00603267 | Cervix | CC | cell chemotaxis | 73/2311 | 310/18723 | 2.82e-08 | 1.96e-06 | 73 |
GO:00975817 | Cervix | CC | lamellipodium organization | 31/2311 | 90/18723 | 4.57e-08 | 2.76e-06 | 31 |
GO:00458608 | Cervix | CC | positive regulation of protein kinase activity | 85/2311 | 386/18723 | 5.61e-08 | 3.29e-06 | 85 |
GO:00975298 | Cervix | CC | myeloid leukocyte migration | 56/2311 | 220/18723 | 7.21e-08 | 4.15e-06 | 56 |
GO:003009910 | Cervix | CC | myeloid cell differentiation | 83/2311 | 381/18723 | 1.31e-07 | 6.42e-06 | 83 |
GO:00305957 | Cervix | CC | leukocyte chemotaxis | 57/2311 | 230/18723 | 1.48e-07 | 7.07e-06 | 57 |
GO:00027644 | Cervix | CC | immune response-regulating signaling pathway | 97/2311 | 468/18723 | 1.49e-07 | 7.07e-06 | 97 |
GO:00300325 | Cervix | CC | lamellipodium assembly | 26/2311 | 72/18723 | 1.87e-07 | 8.48e-06 | 26 |
GO:000226210 | Cervix | CC | myeloid cell homeostasis | 43/2311 | 157/18723 | 2.66e-07 | 1.12e-05 | 43 |
GO:00018197 | Cervix | CC | positive regulation of cytokine production | 95/2311 | 467/18723 | 4.88e-07 | 1.85e-05 | 95 |
GO:003410110 | Cervix | CC | erythrocyte homeostasis | 37/2311 | 129/18723 | 5.16e-07 | 1.93e-05 | 37 |
GO:00509007 | Cervix | CC | leukocyte migration | 78/2311 | 369/18723 | 1.09e-06 | 3.80e-05 | 78 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0415133 | Oral cavity | EOLP | PI3K-Akt signaling pathway | 73/1218 | 354/8465 | 7.03e-04 | 2.69e-03 | 1.59e-03 | 73 |
hsa052213 | Oral cavity | EOLP | Acute myeloid leukemia | 19/1218 | 67/8465 | 2.20e-03 | 7.32e-03 | 4.32e-03 | 19 |
hsa0407211 | Oral cavity | EOLP | Phospholipase D signaling pathway | 31/1218 | 148/8465 | 1.82e-02 | 4.67e-02 | 2.76e-02 | 31 |
hsa0523051 | Oral cavity | EOLP | Central carbon metabolism in cancer | 17/1218 | 70/8465 | 1.87e-02 | 4.75e-02 | 2.80e-02 | 17 |
hsa0415141 | Oral cavity | NEOLP | PI3K-Akt signaling pathway | 79/1112 | 354/8465 | 8.42e-07 | 9.92e-06 | 6.24e-06 | 79 |
hsa0401041 | Oral cavity | NEOLP | MAPK signaling pathway | 59/1112 | 302/8465 | 9.40e-04 | 4.67e-03 | 2.94e-03 | 59 |
hsa0401524 | Oral cavity | NEOLP | Rap1 signaling pathway | 40/1112 | 210/8465 | 9.07e-03 | 3.17e-02 | 1.99e-02 | 40 |
hsa0415151 | Oral cavity | NEOLP | PI3K-Akt signaling pathway | 79/1112 | 354/8465 | 8.42e-07 | 9.92e-06 | 6.24e-06 | 79 |
hsa0401051 | Oral cavity | NEOLP | MAPK signaling pathway | 59/1112 | 302/8465 | 9.40e-04 | 4.67e-03 | 2.94e-03 | 59 |
hsa0401534 | Oral cavity | NEOLP | Rap1 signaling pathway | 40/1112 | 210/8465 | 9.07e-03 | 3.17e-02 | 1.99e-02 | 40 |
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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 |
KITLG | KIT | KITL_KIT | KIT | Breast | Healthy |
KITLG | KIT | KITL_KIT | KIT | Cervix | CC |
KITLG | KIT | KITL_KIT | KIT | Cervix | Healthy |
KITLG | KIT | KITL_KIT | KIT | Cervix | Precancer |
KITLG | KIT | KITL_KIT | KIT | CRC | Healthy |
KITLG | KIT | KITL_KIT | KIT | Endometrium | AEH |
KITLG | KIT | KITL_KIT | KIT | Endometrium | EEC |
KITLG | KIT | KITL_KIT | KIT | Esophagus | ESCC |
KITLG | KIT | KITL_KIT | KIT | HNSCC | OSCC |
KITLG | KIT | KITL_KIT | KIT | HNSCC | Precancer |
KITLG | KIT | KITL_KIT | KIT | Lung | AAH |
KITLG | KIT | KITL_KIT | KIT | Lung | AIS |
KITLG | KIT | KITL_KIT | KIT | Lung | IAC |
KITLG | KIT | KITL_KIT | KIT | Lung | MIAC |
KITLG | KIT | KITL_KIT | KIT | Lung | Precancer |
KITLG | KIT | KITL_KIT | KIT | Skin | ADJ |
KITLG | KIT | KITL_KIT | KIT | Skin | AK |
KITLG | KIT | KITL_KIT | KIT | Skin | cSCC |
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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 |
KIT | SNV | Missense_Mutation | c.656C>T | p.Ala219Val | p.A219V | P10721 | protein_coding | tolerated(0.25) | benign(0.019) | TCGA-A8-A07G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
KIT | SNV | Missense_Mutation | c.117N>G | p.Ile39Met | p.I39M | P10721 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
KIT | SNV | Missense_Mutation | c.1295G>A | p.Gly432Glu | p.G432E | P10721 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
KIT | SNV | Missense_Mutation | rs753318751 | c.771G>T | p.Glu257Asp | p.E257D | P10721 | protein_coding | tolerated(0.62) | benign(0.011) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs386833402 | c.839N>T | p.Ala280Val | p.A280V | P10721 | protein_coding | tolerated(1) | benign(0.001) | TCGA-AN-A04A-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs143772138 | c.2057N>A | p.Arg686His | p.R686H | P10721 | protein_coding | deleterious(0.01) | benign(0.096) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | novel | c.1391N>T | p.Ser464Leu | p.S464L | P10721 | protein_coding | tolerated(0.35) | benign(0.172) | TCGA-BH-A0B6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
KIT | SNV | Missense_Mutation | rs781633384 | c.106C>A | p.Pro36Thr | p.P36T | P10721 | protein_coding | tolerated(0.39) | benign(0.112) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
KIT | insertion | Nonsense_Mutation | novel | c.2253_2254insCAAGGAGACCTCAGTAAATATTATTGATGG | p.Asp751_Val752insGlnGlyAspLeuSerLysTyrTyrTerTrp | p.D751_V752insQGDLSKYY*W | P10721 | protein_coding | TCGA-AN-A049-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
KIT | SNV | Missense_Mutation | novel | c.2401A>G | p.Thr801Ala | p.T801A | P10721 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | Pazopanib HCl | |||
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102337 | SORAFENIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | G007-LK | 28611108 | ||
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | Sorafenib | SORAFENIB | ||
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 4'-N-BENZOYLSTAUROSPORINE | ||
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | CHEMBL124660 | TANDUTINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102585 | DOVITINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 178102286 | QUIZARTINIB | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | inhibitor | 328083485 | OSI-930 | |
3815 | KIT | CLINICALLY ACTIONABLE, KINASE, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, TYROSINE KINASE, DRUG RESISTANCE, EXTERNAL SIDE OF PLASMA MEMBRANE | OSI-930 | OSI-930 |
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