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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for KIT |
 Gene summary |
| Gene information | Gene symbol | KIT | Gene ID | 3815 |
| Gene name | KIT proto-oncogene receptor tyrosine kinase | |
| Synonyms | C-Kit|CD117|PBT|SCFR | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | mast/stem cell growth factor receptor Kitc-Kit protooncogenep145 c-kitpiebald trait proteinproto-oncogene c-Kitproto-oncogene tyrosine-protein kinase Kitsoluble KIT variant 1tyrosine-protein kinase Kitv-kit Hardy-Zuckerman 4 feline sarcoma viral o | |
| Modification date | 20180527 | |
| UniProtAcc | P10721 | |
| Context | PubMed: KIT [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| KIT | GO:0000187 | activation of MAPK activity | 21640708 |
| KIT | GO:0002551 | mast cell chemotaxis | 20100931 |
| KIT | GO:0018108 | peptidyl-tyrosine phosphorylation | 21640708 |
| KIT | GO:0019221 | cytokine-mediated signaling pathway | 21640708 |
| KIT | GO:0031532 | actin cytoskeleton reorganization | 1721869 |
| KIT | GO:0032762 | mast cell cytokine production | 20100931 |
| KIT | GO:0038093 | Fc receptor signaling pathway | 20100931 |
| KIT | GO:0038109 | Kit signaling pathway | 17662946 |
| KIT | GO:0046777 | protein autophosphorylation | 21640708 |
| KIT | GO:0060326 | cell chemotaxis | 1721869 |
| KIT | GO:1905065 | positive regulation of vascular smooth muscle cell differentiation | 19088079 |
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Exon skipping events across known transcript of Ensembl for KIT from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for KIT |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for KIT |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423707 | 4 | 55593581:55593708:55593988:55594093:55594176:55594287 | 55593988:55594093 | ENSG00000157404.11 | ENST00000288135.5,ENST00000412167.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for KIT |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423707 | 4 | 55593581:55593708:55593988:55594093:55594176:55594287 | 55593988:55594093 | ENSG00000157404.11 | ENST00000412167.2,ENST00000288135.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for KIT |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000288135 | 55593988 | 55594093 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000288135 | 55593988 | 55594093 | In-frame |
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Infer the effects of exon skipping event on protein functional features for KIT |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000288135 | 5203 | 976 | 55593988 | 55594093 | 1872 | 1976 | 591 | 626 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000288135 | 5203 | 976 | 55593988 | 55594093 | 1872 | 1976 | 591 | 626 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P10721 | 591 | 626 | 414 | 976 | Alternative sequence | ID=VSP_041867;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P10721 | 591 | 626 | 589 | 597 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 599 | 613 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 617 | 625 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 623 | 623 | Binding site | Note=ATP |
| P10721 | 591 | 626 | 26 | 976 | Chain | ID=PRO_0000016754;Note=Mast/stem cell growth factor receptor Kit |
| P10721 | 591 | 626 | 589 | 937 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P10721 | 591 | 626 | 623 | 623 | Mutagenesis | Note=Stronger interaction with MPDZ. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11018522;Dbxref=PMID:11018522 |
| P10721 | 591 | 626 | 601 | 601 | Natural variant | ID=VAR_033130;Note=In PBT. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11074500;Dbxref=PMID:11074500 |
| P10721 | 591 | 626 | 596 | 603 | Nucleotide binding | Note=ATP |
| P10721 | 591 | 626 | 546 | 976 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| P10721 | 591 | 626 | 414 | 976 | Alternative sequence | ID=VSP_041867;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:18593464;Dbxref=PMID:18593464 |
| P10721 | 591 | 626 | 589 | 597 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 599 | 613 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 617 | 625 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T46 |
| P10721 | 591 | 626 | 623 | 623 | Binding site | Note=ATP |
| P10721 | 591 | 626 | 26 | 976 | Chain | ID=PRO_0000016754;Note=Mast/stem cell growth factor receptor Kit |
| P10721 | 591 | 626 | 589 | 937 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P10721 | 591 | 626 | 623 | 623 | Mutagenesis | Note=Stronger interaction with MPDZ. K->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11018522;Dbxref=PMID:11018522 |
| P10721 | 591 | 626 | 601 | 601 | Natural variant | ID=VAR_033130;Note=In PBT. G->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11074500;Dbxref=PMID:11074500 |
| P10721 | 591 | 626 | 596 | 603 | Nucleotide binding | Note=ATP |
| P10721 | 591 | 626 | 546 | 976 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for KIT |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_423707 | 55593989 | 55594093 | 55594015 | 55594015 | Frame_Shift_Del | G | - | p.G601fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| SW900_LUNG | 55593989 | 55594093 | 55594062 | 55594062 | Frame_Shift_Del | G | - | p.A617fs |
| LMSU_STOMACH | 55593989 | 55594093 | 55594057 | 55594057 | Missense_Mutation | G | A | p.D615N |
| HCC2998_LARGE_INTESTINE | 55593989 | 55594093 | 55594083 | 55594083 | Missense_Mutation | G | T | p.K623N |
| MDAMB415_BREAST | 55593989 | 55594093 | 55594091 | 55594091 | Missense_Mutation | A | G | p.K626R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for KIT |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIT |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for KIT |
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RelatedDrugs for KIT |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P10721 | DB00619 | Imatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved | |
| P10721 | DB06589 | Pazopanib | Mast/stem cell growth factor receptor Kit | small molecule | approved | |
| P10721 | DB08896 | Regorafenib | Mast/stem cell growth factor receptor Kit | small molecule | approved | |
| P10721 | DB00398 | Sorafenib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB01254 | Dasatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB01268 | Sunitinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB04868 | Nilotinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB06595 | Midostaurin | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB08901 | Ponatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB09078 | Lenvatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB12010 | Fostamatinib | Mast/stem cell growth factor receptor Kit | small molecule | approved|investigational | |
| P10721 | DB09103 | Ancestim | Mast/stem cell growth factor receptor Kit | biotech | approved|investigational|withdrawn |
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RelatedDiseases for KIT |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| KIT | C0080024 | Piebaldism | 7 | CTD_human;HPO;ORPHANET;UNIPROT |
| KIT | C0238198 | Gastrointestinal Stromal Tumors | 4 | CTD_human;HPO;ORPHANET;UNIPROT |
| KIT | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| KIT | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
| KIT | C0024115 | Lung diseases | 1 | CTD_human |
| KIT | C0027643 | Neoplasm Recurrence, Local | 1 | CTD_human |
| KIT | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
| KIT | C0221013 | Mastocytosis, Systemic | 1 | CTD_human |
| KIT | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| KIT | C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | 1 | CTD_human |
| KIT | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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