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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12683

FusionGeneSummary for FAM193A_FGFR3

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM193A_FGFR3
Fusion gene ID: 12683
HgeneTgene
Gene symbol

FAM193A

FGFR3

Gene ID

8603

2261

Gene namefamily with sequence similarity 193 member Afibroblast growth factor receptor 3
SynonymsC4orf8|RES4-22ACH|CD333|CEK2|HSFGFR3EX|JTK4
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM193Afibroblast growth factor receptor 3FGFR-3fibroblast growth factor receptor 3 variant 4hydroxyaryl-protein kinasetyrosine kinase JTK4
Modification date2018051920180523
UniProtAcc

P78312

P22607

Ensembl transtripts involved in fusion geneENST00000545951, ENST00000382839, 
ENST00000324666, ENST00000502458, 
ENST00000505311, 		ENST00000481110, 
ENST00000440486, ENST00000412135, 
ENST00000340107, ENST00000260795, 
ENST00000352904, ENST00000474521, 
Fusion gene scores* DoF score10 X 8 X 8=6403 X 6 X 6=108
# samples 116
** MAII scorelog2(11/640*10)=-2.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM193A [Title/Abstract] AND FGFR3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneFGFR3

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

TgeneFGFR3

GO:0018108

peptidyl-tyrosine phosphorylation

11294897

TgeneFGFR3

GO:0046777

protein autophosphorylation

11294897


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-D9-A1X3-06AFAM193Achr4

2538897

+FGFR3chr4

1803347

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000545951ENST00000481110FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000545951ENST00000440486FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000545951ENST00000412135FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000545951ENST00000340107FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000545951ENST00000260795FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000545951ENST00000352904FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-intronENST00000545951ENST00000474521FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000481110FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000440486FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000412135FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000340107FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000260795FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000382839ENST00000352904FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-intronENST00000382839ENST00000474521FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000481110FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000440486FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000412135FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000340107FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000260795FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000324666ENST00000352904FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-intronENST00000324666ENST00000474521FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000481110FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000440486FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000412135FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000340107FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000260795FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000502458ENST00000352904FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-intronENST00000502458ENST00000474521FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000481110FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000440486FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000412135FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000340107FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000260795FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-3CDSENST00000505311ENST00000352904FAM193Achr4

2538897

+FGFR3chr4

1803347

+
intron-intronENST00000505311ENST00000474521FAM193Achr4

2538897

+FGFR3chr4

1803347

+

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FusionProtFeatures for FAM193A_FGFR3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM193A

P78312

FGFR3

P22607

Tyrosine-protein kinase that acts as cell-surfacereceptor for fibroblast growth factors and plays an essential rolein the regulation of cell proliferation, differentiation andapoptosis. Plays an essential role in the regulation ofchondrocyte differentiation, proliferation and apoptosis, and isrequired for normal skeleton development. Regulates bothosteogenesis and postnatal bone mineralization by osteoblasts.Promotes apoptosis in chondrocytes, but can also promote cancercell proliferation. Required for normal development of the innerear. Phosphorylates PLCG1, CBL and FRS2. Ligand binding leads tothe activation of several signaling cascades. Activation of PLCG1leads to the production of the cellular signaling moleculesdiacylglycerol and inositol 1,4,5-trisphosphate. Phosphorylationof FRS2 triggers recruitment of GRB2, GAB1, PIK3R1 and SOS1, andmediates activation of RAS, MAPK1/ERK2, MAPK3/ERK1 and the MAPkinase signaling pathway, as well as of the AKT1 signalingpathway. Plays a role in the regulation of vitamin D metabolism.Mutations that lead to constitutive kinase activation or impairnormal FGFR3 maturation, internalization and degradation lead toaberrant signaling. Over-expressed or constitutively activatedFGFR3 promotes activation of PTPN11/SHP2, STAT1, STAT5A andSTAT5B. Secreted isoform 3 retains its capacity to bind FGF1 andFGF2 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}.

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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FusionGeneSequence for FAM193A_FGFR3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FAM193A_FGFR3


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
FAM193AANKRD28, MDM4FGFR3C6orf47, SMG7, BORA, CCDC17, HBZ, HNRNPL, NDUFS6, RNF130, ATF3, ARAP1, CHGB, CTSK, RADIL, GTF3C1, KRT8, POLA2, KIAA1377, RPL8, SLC25A6, SH2B1, FGF9, FGF1, GRB2, FGF8, HSP90AA1, HSP90AB1, HSPA1B, HSPA8, CDC37, HSPA4, SOCS1, SOCS3, FGFR3, SNX11, TMEM231, ILKAP, SRPK2, PVRL1, BRD4, VHL, FNTA, CDK6, FGFR2, TMEM30B, ARRDC3, SDC2


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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RelatedDrugs for FAM193A_FGFR3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFGFR3P22607DB00039PaliferminFibroblast growth factor receptor 3biotechapproved
TgeneFGFR3P22607DB06589PazopanibFibroblast growth factor receptor 3small moleculeapproved
TgeneFGFR3P22607DB09079NintedanibFibroblast growth factor receptor 3small moleculeapproved
TgeneFGFR3P22607DB08901PonatinibFibroblast growth factor receptor 3small moleculeapproved|investigational
TgeneFGFR3P22607DB09078LenvatinibFibroblast growth factor receptor 3small moleculeapproved|investigational

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RelatedDiseases for FAM193A_FGFR3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFGFR3C0022603Seborrheic keratosis21UNIPROT
TgeneFGFR3C0001080Achondroplasia8CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0410529Hypochondroplasia (disorder)8CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0334082NEVUS, EPIDERMAL (disorder)7CTD_human;UNIPROT
TgeneFGFR3C0005695Bladder Neoplasm4CTD_human
TgeneFGFR3C1864436Muenke Syndrome4CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0005684Malignant neoplasm of urinary bladder3UNIPROT
TgeneFGFR3C2677099CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)3CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C0007138Carcinoma, Transitional Cell1CTD_human
TgeneFGFR3C0008924Cleft Lip1CTD_human
TgeneFGFR3C0008925Cleft Palate1CTD_human
TgeneFGFR3C0026764Multiple Myeloma1CTD_human
TgeneFGFR3C0036631Seminoma1CTD_human
TgeneFGFR3C0039743Thanatophoric Dysplasia1CTD_human
TgeneFGFR3C0265269Lacrimoauriculodentodigital syndrome1CTD_human;ORPHANET;UNIPROT
TgeneFGFR3C1864852CATSHL syndrome1CTD_human;ORPHANET;UNIPROT