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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 FLT3 |
 Gene summary |
| Gene information | Gene symbol | FLT3 | Gene ID | 2322 |
| Gene name | fms related tyrosine kinase 3 | |
| Synonyms | CD135|FLK-2|FLK2|STK1 | |
| Cytomap | 13q12.2 | |
| Type of gene | protein-coding | |
| Description | receptor-type tyrosine-protein kinase FLT3CD135 antigenFL cytokine receptorfetal liver kinase 2fms-like tyrosine kinase 3growth factor receptor tyrosine kinase type IIIstem cell tyrosine kinase 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P36888 | |
| Context | PubMed: FLT3 [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 |
| FLT3 | GO:0030097 | hemopoiesis | 7507245 |
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Exon skipping events across known transcript of Ensembl for FLT3 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 FLT3 |
| 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 FLT3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102622 | 13 | 28578083:28578311:28583442:28583627:28588588:28588649 | 28583442:28583627 | ENSG00000122025.10 | ENST00000469894.1 |
| exon_skip_102623 | 13 | 28589726:28589838:28592594:28592726:28597486:28597614 | 28592594:28592726 | ENSG00000122025.10 | ENST00000380982.4 |
| exon_skip_102624 | 13 | 28589726:28589838:28592603:28592726:28597486:28597614 | 28592603:28592726 | ENSG00000122025.10 | ENST00000241453.7,ENST00000380987.2 |
| exon_skip_102625 | 13 | 28598997:28599080:28599420:28599552:28601224:28601378 | 28599420:28599552 | ENSG00000122025.10 | ENST00000380987.2 |
| exon_skip_102626 | 13 | 28610071:28610180:28611321:28611425:28622411:28622580 | 28611321:28611425 | ENSG00000122025.10 | ENST00000380982.4,ENST00000241453.7,ENST00000380987.2,ENST00000537084.1 |
| exon_skip_102628 | 13 | 28624231:28624359:28626681:28626811:28631483:28631599 | 28626681:28626811 | ENSG00000122025.10 | ENST00000380982.4,ENST00000241453.7,ENST00000380987.2,ENST00000537084.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FLT3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102622 | 13 | 28578083:28578311:28583442:28583627:28588588:28588649 | 28583442:28583627 | ENSG00000122025.10 | ENST00000469894.1 |
| exon_skip_102624 | 13 | 28589726:28589838:28592603:28592726:28597486:28597614 | 28592603:28592726 | ENSG00000122025.10 | ENST00000241453.7,ENST00000380987.2 |
| exon_skip_102625 | 13 | 28598997:28599080:28599420:28599552:28601224:28601378 | 28599420:28599552 | ENSG00000122025.10 | ENST00000380987.2 |
| exon_skip_102626 | 13 | 28610071:28610180:28611321:28611425:28622411:28622580 | 28611321:28611425 | ENSG00000122025.10 | ENST00000241453.7,ENST00000380982.4,ENST00000380987.2,ENST00000537084.1 |
| exon_skip_102628 | 13 | 28624231:28624359:28626681:28626811:28631483:28631599 | 28626681:28626811 | ENSG00000122025.10 | ENST00000241453.7,ENST00000380982.4,ENST00000380987.2,ENST00000537084.1 |
| 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 FLT3 |
| 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 |
| ENST00000241453 | 28611321 | 28611425 | Frame-shift |
| ENST00000241453 | 28626681 | 28626811 | Frame-shift |
| ENST00000241453 | 28592603 | 28592726 | 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 |
| ENST00000241453 | 28611321 | 28611425 | Frame-shift |
| ENST00000241453 | 28626681 | 28626811 | Frame-shift |
| ENST00000241453 | 28592603 | 28592726 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FLT3 |
| 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 |
| ENST00000241453 | 3859 | 993 | 28592603 | 28592726 | 2501 | 2623 | 806 | 847 |
| 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 |
| ENST00000241453 | 3859 | 993 | 28592603 | 28592726 | 2501 | 2623 | 806 | 847 |
| 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 |
| P36888 | 806 | 847 | 811 | 811 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P36888 | 806 | 847 | 807 | 847 | Alternative sequence | ID=VSP_041796;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P36888 | 806 | 847 | 807 | 809 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 817 | 820 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 824 | 827 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 842 | 845 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 27 | 993 | Chain | ID=PRO_0000016778;Note=Receptor-type tyrosine-protein kinase FLT3 |
| P36888 | 806 | 847 | 610 | 943 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P36888 | 806 | 847 | 814 | 816 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 831 | 833 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 836 | 838 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 842 | 842 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16627759,ECO:0000269|PubMed:19477218,ECO:0000269|PubMed:21262971;Dbxref=PMID:16627759,PMID:19477218,PMID:21262971 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065679;Note=In acute lymphoblastic leukemia patients and acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269|PubMed:1450409 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065680;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065681;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11290608;Dbxref=dbSNP:rs121913488,PMID:11290 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065682;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11290608;Dbxref=dbSNP:rs121909646,PMID:11290 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065683;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269 |
| P36888 | 806 | 847 | 836 | 836 | Natural variant | ID=VAR_065684;Note=In acute lymphoblastic leukemia patients%3B somatic mutation. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14504097;Dbxref=dbSNP:rs121913232,PMID:14504097 |
| P36888 | 806 | 847 | 564 | 993 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P36888 | 806 | 847 | 821 | 823 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| 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 |
| P36888 | 806 | 847 | 811 | 811 | Active site | Note=Proton acceptor;Ontology_term=ECO:0000255,ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159,ECO:0000255|PROSITE-ProRule:PRU10028 |
| P36888 | 806 | 847 | 807 | 847 | Alternative sequence | ID=VSP_041796;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P36888 | 806 | 847 | 807 | 809 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 817 | 820 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 824 | 827 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 842 | 845 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 27 | 993 | Chain | ID=PRO_0000016778;Note=Receptor-type tyrosine-protein kinase FLT3 |
| P36888 | 806 | 847 | 610 | 943 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| P36888 | 806 | 847 | 814 | 816 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 831 | 833 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 836 | 838 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
| P36888 | 806 | 847 | 842 | 842 | Modified residue | Note=Phosphotyrosine%3B by autocatalysis;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16627759,ECO:0000269|PubMed:19477218,ECO:0000269|PubMed:21262971;Dbxref=PMID:16627759,PMID:19477218,PMID:21262971 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065679;Note=In acute lymphoblastic leukemia patients and acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269|PubMed:1450409 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065680;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->H;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065681;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11290608;Dbxref=dbSNP:rs121913488,PMID:11290 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065682;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11290608;Dbxref=dbSNP:rs121909646,PMID:11290 |
| P36888 | 806 | 847 | 835 | 835 | Natural variant | ID=VAR_065683;Note=In acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients%3B somatic mutation%3B constitutively activated. D->Y;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11290608,ECO:0000269 |
| P36888 | 806 | 847 | 836 | 836 | Natural variant | ID=VAR_065684;Note=In acute lymphoblastic leukemia patients%3B somatic mutation. I->M;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14504097;Dbxref=dbSNP:rs121913232,PMID:14504097 |
| P36888 | 806 | 847 | 564 | 993 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P36888 | 806 | 847 | 821 | 823 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1RJB |
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SNVs in the skipped exons for FLT3 |
| - 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-G3-A3CJ-01 | exon_skip_102628 | 28626682 | 28626811 | 28626686 | 28626686 | Frame_Shift_Del | C | - | p.E204fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_102628 | 28626682 | 28626811 | 28626770 | 28626770 | Frame_Shift_Del | T | - | p.M176fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_102628 | 28626682 | 28626811 | 28626770 | 28626770 | Frame_Shift_Del | T | - | p.M176fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_102623 | 28592595 | 28592726 | 28592645 | 28592645 | Nonsense_Mutation | G | A | p.R834* |
| KIRC | TCGA-A3-3374-01 | exon_skip_102624 | 28592604 | 28592726 | 28592645 | 28592645 | Nonsense_Mutation | G | A | p.R834* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_102626 | 28611322 | 28611425 | 28611388 | 28611388 | Nonsense_Mutation | C | A | p.E415* |
| STAD | TCGA-CG-5721-01 | exon_skip_102626 | 28611322 | 28611425 | 28611391 | 28611391 | Nonsense_Mutation | C | A | p.G414* |
| STAD | TCGA-CG-5721-01 | exon_skip_102626 | 28611322 | 28611425 | 28611391 | 28611391 | Nonsense_Mutation | C | A | p.G414X |
| LUAD | TCGA-69-7979-01 | exon_skip_102628 | 28626682 | 28626811 | 28626686 | 28626686 | Nonsense_Mutation | C | A | p.E204* |
| SKCM | TCGA-EE-A2M5-06 | exon_skip_102628 | 28626682 | 28626811 | 28626773 | 28626773 | Nonsense_Mutation | T | A | p.K175* |
| SKCM | TCGA-EE-A2M5-06 | exon_skip_102628 | 28626682 | 28626811 | 28626773 | 28626773 | Nonsense_Mutation | T | A | p.K175X |
| - 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 |
| MFM223_BREAST | 28592604 | 28592726 | 28592690 | 28592691 | Frame_Shift_Ins | - | A | p.V819fs |
| MFM223_BREAST | 28592595 | 28592726 | 28592690 | 28592691 | Frame_Shift_Ins | - | A | p.V819fs |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592604 | 28592726 | 28592653 | 28592653 | Missense_Mutation | C | T | p.G831E |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592595 | 28592726 | 28592653 | 28592653 | Missense_Mutation | C | T | p.G831E |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592604 | 28592726 | 28592686 | 28592686 | Missense_Mutation | G | T | p.T820N |
| ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592595 | 28592726 | 28592686 | 28592686 | Missense_Mutation | G | T | p.T820N |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592604 | 28592726 | 28592686 | 28592686 | Missense_Mutation | G | T | p.T820N |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28592595 | 28592726 | 28592686 | 28592686 | Missense_Mutation | G | T | p.T820N |
| HEC108_ENDOMETRIUM | 28592604 | 28592726 | 28592689 | 28592689 | Missense_Mutation | A | G | p.V819A |
| HEC108_ENDOMETRIUM | 28592595 | 28592726 | 28592689 | 28592689 | Missense_Mutation | A | G | p.V819A |
| HCC2998_LARGE_INTESTINE | 28611322 | 28611425 | 28611414 | 28611414 | Missense_Mutation | A | C | p.F406C |
| M14_SKIN | 28611322 | 28611425 | 28611420 | 28611420 | Missense_Mutation | G | A | p.S404F |
| MDAMB435S_SKIN | 28611322 | 28611425 | 28611420 | 28611420 | Missense_Mutation | G | A | p.S404F |
| HCT116_LARGE_INTESTINE | 28626682 | 28626811 | 28626706 | 28626706 | Missense_Mutation | A | G | p.V197A |
| EN_ENDOMETRIUM | 28626682 | 28626811 | 28626706 | 28626706 | Missense_Mutation | A | G | p.V197A |
| SARC9371_BONE | 28626682 | 28626811 | 28626743 | 28626743 | Missense_Mutation | T | C | p.I185V |
| C10_LARGE_INTESTINE | 28626682 | 28626811 | 28626756 | 28626756 | Missense_Mutation | G | T | p.D180E |
| WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28626682 | 28626811 | 28626792 | 28626792 | Missense_Mutation | T | G | p.L168F |
| DMS454_LUNG | 28592604 | 28592726 | 28592726 | 28592726 | Splice_Site | A | C | p.C807G |
| DMS454_LUNG | 28592595 | 28592726 | 28592726 | 28592726 | Splice_Site | A | C | p.C807G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FLT3 |
| 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 FLT3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FLT3 |
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RelatedDrugs for FLT3 |
| 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 |
| P36888 | DB09079 | Nintedanib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved | |
| P36888 | DB00398 | Sorafenib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational | |
| P36888 | DB01268 | Sunitinib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational | |
| P36888 | DB06595 | Midostaurin | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational | |
| P36888 | DB08901 | Ponatinib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational | |
| P36888 | DB12010 | Fostamatinib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational | |
| P36888 | DB12267 | Brigatinib | Receptor-type tyrosine-protein kinase FLT3 | small molecule | approved|investigational |
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RelatedDiseases for FLT3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FLT3 | C0023467 | Leukemia, Myelocytic, Acute | 11 | CTD_human |
| FLT3 | C0023487 | Acute Promyelocytic Leukemia | 3 | CTD_human |
| FLT3 | C0040053 | Thrombosis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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