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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FGFR3-MLLT10 (FusionGDB2 ID:HG2261TG8028)

Fusion Gene Summary for FGFR3-MLLT10

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR3-MLLT10
Fusion gene ID: hg2261tg8028
HgeneTgene
Gene symbol

FGFR3

MLLT10

Gene ID

2261

8028

Gene namefibroblast growth factor receptor 3MLLT10 histone lysine methyltransferase DOT1L cofactor
SynonymsACH|CD333|CEK2|HSFGFR3EX|JTK4AF10
Cytomap('FGFR3')('MLLT10')

4p16.3

10p12.31

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4fibroblast growth factor receptor 3-Shydroxyaryl-protein kinasetyrosine kinase JTK4protein AF-10ALL1-fused gene from chromosome 10 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10myeloid/lymphoid or mixed-lineage leukemia; translocated to, 10type I AF10 proteintype III AF10 prot
Modification date2020031320200313
UniProtAcc

P22607

P55197

Ensembl transtripts involved in fusion geneENST00000260795, ENST00000340107, 
ENST00000352904, ENST00000412135, 
ENST00000440486, ENST00000481110, 
ENST00000474521, 
Fusion gene scores* DoF score10 X 22 X 14=308017 X 30 X 5=2550
# samples 3330
** MAII scorelog2(33/3080*10)=-3.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/2550*10)=-3.08746284125034
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR3 [Title/Abstract] AND MLLT10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR3(1807631)-MLLT10(22028959), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

HgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

HgeneFGFR3

GO:0046777

protein autophosphorylation

11294897

TgeneMLLT10

GO:0045944

positive regulation of transcription by RNA polymerase II

17868029



check button Fusion gene information
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-24-1474-01AFGFR3chr4

1807631

+MLLT10chr10

22028959

+


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Fusion Gene ORF analysis for FGFR3-MLLT10

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000260795ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000260795ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000340107ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000352904ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000412135ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000440486ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
5CDS-intronENST00000481110ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000307729FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377059FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377072FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377091FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000377100FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000446906FGFR3chr4

1807631

+MLLT10chr10

22028959

+
intron-intronENST00000474521ENST00000495130FGFR3chr4

1807631

+MLLT10chr10

22028959

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FGFR3-MLLT10


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for FGFR3-MLLT10


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1807631/:22028959)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR3

P22607

MLLT10

P55197

FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays an essential role in the regulation of cell proliferation, differentiation and apoptosis. Plays an essential role in the regulation of chondrocyte differentiation, proliferation and apoptosis, and is required for normal skeleton development. Regulates both osteogenesis and postnatal bone mineralization by osteoblasts. Promotes apoptosis in chondrocytes, but can also promote cancer cell proliferation. Required for normal development of the inner ear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads to the activation of several signaling cascades. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylation of FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, and mediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAP kinase signaling pathway, as well as of the AKT1 signaling pathway. Plays a role in the regulation of vitamin D metabolism. Mutations that lead to constitutive kinase activation or impair normal FGFR3 maturation, internalization and degradation lead to aberrant signaling. Over-expressed or constitutively activated FGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A and STAT5B. Secreted isoform 3 retains its capacity to bind FGF1 and FGF2 and hence may interfere with FGF signaling. {ECO:0000269|PubMed:10611230, ECO:0000269|PubMed:11294897, ECO:0000269|PubMed:11703096, ECO:0000269|PubMed:14534538, ECO:0000269|PubMed:16410555, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17145761, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17509076, ECO:0000269|PubMed:17561467, ECO:0000269|PubMed:19088846, ECO:0000269|PubMed:19286672, ECO:0000269|PubMed:8663044}.FUNCTION: Probably involved in transcriptional regulation. In vitro or as fusion protein with KMT2A/MLL1 has transactivation activity. Binds to cruciform DNA. In cells, binding to unmodified histone H3 regulates DOT1L functions including histone H3 'Lys-79' dimethylation (H3K79me2) and gene activation (PubMed:26439302). {ECO:0000269|PubMed:17868029, ECO:0000269|PubMed:26439302}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for FGFR3-MLLT10


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FGFR3-MLLT10


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for FGFR3-MLLT10


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB06589PazopanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB09079NintedanibInhibitorSmall moleculeApproved
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR3P22607DB15685SelpercatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for FGFR3-MLLT10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR3C0001080Achondroplasia13CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0410529Hypochondroplasia (disorder)10CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1864436Muenke Syndrome9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C1868678THANATOPHORIC DYSPLASIA, TYPE I (disorder)9CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C0005684Malignant neoplasm of urinary bladder6CGI;CTD_human;UNIPROT
HgeneFGFR3C0005695Bladder Neoplasm4CGI;CTD_human
HgeneFGFR3C1300257Thanatophoric dysplasia, type 24CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneFGFR3C1864852CATSHL syndrome4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C2674173Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
HgeneFGFR3C0008924Cleft upper lip1CTD_human
HgeneFGFR3C0008925Cleft Palate1CTD_human
HgeneFGFR3C0014544Epilepsy1GENOMICS_ENGLAND
HgeneFGFR3C0014547Epilepsies, Partial1GENOMICS_ENGLAND
HgeneFGFR3C0022603Seborrheic keratosis1UNIPROT
HgeneFGFR3C0026764Multiple Myeloma1CGI;CTD_human
HgeneFGFR3C0036631Seminoma1CTD_human
HgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
HgeneFGFR3C0152423Congenital small ears1GENOMICS_ENGLAND
HgeneFGFR3C0206726gliosarcoma1ORPHANET
HgeneFGFR3C0221356Brachycephaly1ORPHANET
HgeneFGFR3C0265529Plagiocephaly1ORPHANET
HgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)1CTD_human;UNIPROT
HgeneFGFR3C0334588Giant Cell Glioblastoma1ORPHANET
HgeneFGFR3C0406803Syringocystadenoma Papilliferum1GENOMICS_ENGLAND
HgeneFGFR3C1336708Testicular Germ Cell Tumor1CTD_human;UNIPROT
HgeneFGFR3C1837218Cleft palate, isolated1CTD_human
HgeneFGFR3C4048328cervical cancer1CTD_human;UNIPROT
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0025286Meningioma1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET
TgeneC3163622Papillary Meningioma1CTD_human