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Center for Computational Systems Medicine
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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:FGFR4-ACTG1 (FusionGDB2 ID:30218)

Fusion Gene Summary for FGFR4-ACTG1

check button Fusion gene summary
Fusion gene informationFusion gene name: FGFR4-ACTG1
Fusion gene ID: 30218
HgeneTgene
Gene symbol

FGFR4

ACTG1

Gene ID

2264

71

Gene namefibroblast growth factor receptor 4actin gamma 1
SynonymsCD334|JTK2|TKFACT|ACTG|DFNA20|DFNA26|HEL-176
Cytomap

5q35.2

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor 4hydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine kinase related to fibroblast growth factor receptortyrosylprotein kinaseactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176
Modification date2020031320200327
UniProtAcc

P22455

P63261

Ensembl transtripts involved in fusion geneENST00000292408, ENST00000393648, 
ENST00000502906, ENST00000292410, 
ENST00000507708, ENST00000393637, 
ENST00000331925, ENST00000573283, 
ENST00000575842, ENST00000575087, 
Fusion gene scores* DoF score3 X 3 X 3=2740 X 34 X 12=16320
# samples 347
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(47/16320*10)=-5.11783649029386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGFR4 [Title/Abstract] AND ACTG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGFR4(176516941)-ACTG1(79478652), # samples:1
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
HgeneFGFR4

GO:0008284

positive regulation of cell proliferation

8663044

HgeneFGFR4

GO:0008543

fibroblast growth factor receptor signaling pathway

21653700

HgeneFGFR4

GO:0018108

peptidyl-tyrosine phosphorylation

18480409|20683963

HgeneFGFR4

GO:0046777

protein autophosphorylation

20798051


check buttonFusion gene breakpoints across FGFR4 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ACTG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4UCSTCGA-N8-A4PNFGFR4chr5

176516941

+ACTG1chr17

79478652

-


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Fusion Gene ORF analysis for FGFR4-ACTG1

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-3CDSENST00000292408ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292408ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292408ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292408ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393648ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393648ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393648ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393648ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000502906ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000502906ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000502906ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000502906ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292410ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292410ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292410ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000292410ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000507708ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000507708ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000507708ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000507708ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393637ENST00000331925FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393637ENST00000573283FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393637ENST00000575842FGFR4chr5

176516941

+ACTG1chr17

79478652

-
intron-3CDSENST00000393637ENST00000575087FGFR4chr5

176516941

+ACTG1chr17

79478652

-

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 FGFR4-ACTG1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for FGFR4-ACTG1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGFR4

P22455

ACTG1

P63261

FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for fibroblast growth factors and plays a role in the regulation of cell proliferation, differentiation and migration, and in regulation of lipid metabolism, bile acid biosynthesis, glucose uptake, vitamin D metabolism and phosphate homeostasis. Required for normal down-regulation of the expression of CYP7A1, the rate-limiting enzyme in bile acid synthesis, in response to FGF19. Phosphorylates PLCG1 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. Promotes SRC-dependent phosphorylation of the matrix protease MMP14 and its lysosomal degradation. FGFR4 signaling is down-regulated by receptor internalization and degradation; MMP14 promotes internalization and degradation of FGFR4. Mutations that lead to constitutive kinase activation or impair normal FGFR4 inactivation lead to aberrant signaling. {ECO:0000269|PubMed:11433297, ECO:0000269|PubMed:16597617, ECO:0000269|PubMed:17311277, ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:18480409, ECO:0000269|PubMed:18670643, ECO:0000269|PubMed:20018895, ECO:0000269|PubMed:20683963, ECO:0000269|PubMed:20798051, ECO:0000269|PubMed:20876804, ECO:0000269|PubMed:21653700, ECO:0000269|PubMed:7518429, ECO:0000269|PubMed:7680645, ECO:0000269|PubMed:8663044}.FUNCTION: Actins are highly conserved proteins that are involved in various types of cell motility and are ubiquitously expressed in all eukaryotic cells. {ECO:0000305|PubMed:29581253}.

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 FGFR4-ACTG1


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 FGFR4-ACTG1


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 FGFR4-ACTG1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFGFR4P22455DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB01109HeparinSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB08901PonatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB09078LenvatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB12147ErdafitinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
HgeneFGFR4P22455DB15102PemigatinibInhibitorSmall moleculeApproved|Investigational
TgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational
TgeneACTG1P63261DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for FGFR4-ACTG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGFR4C0376358Malignant neoplasm of prostate5CTD_human;UNIPROT
HgeneFGFR4C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneFGFR4C0033578Prostatic Neoplasms1CTD_human
HgeneFGFR4C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneACTG1C3711374Nonsyndromic Deafness18CLINGEN
TgeneACTG1C1858172Deafness, Autosomal Dominant 208CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C3281235BARAITSER-WINTER SYNDROME 24CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTG1C0001787Osteoporosis, Age-Related1CTD_human
TgeneACTG1C0005745Blepharoptosis1GENOMICS_ENGLAND
TgeneACTG1C0007097Carcinoma1CTD_human
TgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
TgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
TgeneACTG1C0014544Epilepsy1GENOMICS_ENGLAND
TgeneACTG1C0024433Macrostomia1GENOMICS_ENGLAND
TgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
TgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneACTG1C0029456Osteoporosis1CTD_human
TgeneACTG1C0029459Osteoporosis, Senile1CTD_human
TgeneACTG1C0033377Ptosis1GENOMICS_ENGLAND
TgeneACTG1C0205696Anaplastic carcinoma1CTD_human
TgeneACTG1C0205697Carcinoma, Spindle-Cell1CTD_human
TgeneACTG1C0205698Undifferentiated carcinoma1CTD_human
TgeneACTG1C0205699Carcinomatosis1CTD_human
TgeneACTG1C0240583Short upturned nose1GENOMICS_ENGLAND
TgeneACTG1C0265541Cranioschisis1CTD_human
TgeneACTG1C0266551Congenital coloboma of iris1ORPHANET
TgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
TgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
TgeneACTG1C0751406Post-Traumatic Osteoporosis1CTD_human
TgeneACTG1C0857379Abnormality of the pinna1GENOMICS_ENGLAND
TgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
TgeneACTG1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneACTG1C1384666hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1843156Progressive sensorineural hearing impairment1GENOMICS_ENGLAND
TgeneACTG1C1844505Pointed chin1GENOMICS_ENGLAND
TgeneACTG1C1849340Long palpebral fissure1GENOMICS_ENGLAND
TgeneACTG1C1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation1ORPHANET
TgeneACTG1C1865014Long philtrum1GENOMICS_ENGLAND
TgeneACTG1C1865017Thin upper lip vermilion1GENOMICS_ENGLAND
TgeneACTG1C1868571Highly arched eyebrow1GENOMICS_ENGLAND
TgeneACTG1C1970280Hearing loss begins with loss of high frequencies1GENOMICS_ENGLAND
TgeneACTG1C1970281Audiogram shows sloping configuration1GENOMICS_ENGLAND
TgeneACTG1C1970282Deafness, profound, by 6th decade1GENOMICS_ENGLAND
TgeneACTG1C3279369Microphthalmia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3549665Deafness (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C3808883Short neck (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4012410Enlarged ventricles (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229649Heart defect (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229650Pterygium colli (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229651Hypertelorism/telecanthus1GENOMICS_ENGLAND
TgeneACTG1C4229652Eye coloboma (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4229653Trigonocephaly/metopic ridge1GENOMICS_ENGLAND
TgeneACTG1C4231117Pectus (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231118Kyphosis/scoliosis (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231120Prominent nasal root on profile1GENOMICS_ENGLAND
TgeneACTG1C4231121Large, squared nose tip1GENOMICS_ENGLAND
TgeneACTG1C4231123Retrognathia (in some patients)1GENOMICS_ENGLAND
TgeneACTG1C4231124Prominent/full/wide cheeks1GENOMICS_ENGLAND
TgeneACTG1C4554007Uveoretinal Coloboma1CTD_human
TgeneACTG1C4708599Coloboma of choroid and retina1ORPHANET