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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:ZNF791-FGFR1 (FusionGDB2 ID:102267)

Fusion Gene Summary for ZNF791-FGFR1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF791-FGFR1
Fusion gene ID: 102267
HgeneTgene
Gene symbol

ZNF791

FGFR1

Gene ID

163049

2260

Gene namezinc finger protein 791fibroblast growth factor receptor 1
Synonyms-BFGFR|CD331|CEK|ECCL|FGFBR|FGFR-1|FLG|FLT-2|FLT2|HBGFR|HH2|HRTFDS|KAL2|N-SAM|OGD|bFGF-R-1
Cytomap

19p13.13

8p11.23

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 791fibroblast growth factor receptor 1FGFR1/PLAG1 fusionFMS-like tyrosine kinase 2basic fibroblast growth factor receptor 1fms-related tyrosine kinase 2heparin-binding growth factor receptorhydroxyaryl-protein kinaseproto-oncogene c-Fgr
Modification date2020031320200329
UniProtAcc.

Q9NVK5

Ensembl transtripts involved in fusion geneENST00000446165, ENST00000343325, 
ENST00000458122, ENST00000540038, 
ENST00000498389, 		ENST00000425967, 
ENST00000397091, ENST00000447712, 
ENST00000341462, ENST00000532791, 
ENST00000397113, ENST00000356207, 
ENST00000335922, ENST00000326324, 
ENST00000397103, ENST00000397108, 
ENST00000496629, 
Fusion gene scores* DoF score7 X 5 X 5=17525 X 34 X 7=5950
# samples 922
** MAII scorelog2(9/175*10)=-0.959358015502654
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(22/5950*10)=-4.75731423955801
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF791 [Title/Abstract] AND FGFR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointZNF791(12730134)-FGFR1(38275874), # 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
TgeneFGFR1

GO:0008284

positive regulation of cell proliferation

8663044

TgeneFGFR1

GO:0008543

fibroblast growth factor receptor signaling pathway

8663044

TgeneFGFR1

GO:0010863

positive regulation of phospholipase C activity

18480409

TgeneFGFR1

GO:0018108

peptidyl-tyrosine phosphorylation

8622701|18480409

TgeneFGFR1

GO:0043406

positive regulation of MAP kinase activity

8622701|18480409

TgeneFGFR1

GO:0046777

protein autophosphorylation

8622701

TgeneFGFR1

GO:2000546

positive regulation of endothelial cell chemotaxis to fibroblast growth factor

21885851


check buttonFusion gene breakpoints across ZNF791 (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 FGFR1 (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
ChimerDB4BRCATCGA-BH-A209-01AZNF791chr19

12730134

+FGFR1chr8

38275874

-
ChimerDB4BRCATCGA-BH-A209-01AZNF791chr19

12730134

+FGFR1chr8

38275874

-


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Fusion Gene ORF analysis for ZNF791-FGFR1

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-3CDSENST00000446165ENST00000425967ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000397091ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000447712ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000341462ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000532791ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000397113ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000356207ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000335922ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000326324ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000397103ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000446165ENST00000397108ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-intronENST00000446165ENST00000496629ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000425967ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000397091ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000447712ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000341462ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000532791ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000397113ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000356207ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000335922ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000326324ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000397103ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000343325ENST00000397108ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-intronENST00000343325ENST00000496629ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000425967ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000397091ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000447712ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000341462ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000532791ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000397113ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000356207ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000335922ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000326324ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000397103ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000458122ENST00000397108ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-intronENST00000458122ENST00000496629ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000425967ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000397091ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000447712ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000341462ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000532791ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000397113ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000356207ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000335922ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000326324ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000397103ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000540038ENST00000397108ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-intronENST00000540038ENST00000496629ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000425967ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000397091ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000447712ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000341462ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000532791ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000397113ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000356207ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000335922ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000326324ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000397103ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-3CDSENST00000498389ENST00000397108ZNF791chr19

12730134

+FGFR1chr8

38275874

-
intron-intronENST00000498389ENST00000496629ZNF791chr19

12730134

+FGFR1chr8

38275874

-

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 ZNF791-FGFR1


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 ZNF791-FGFR1


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
.FGFR1

Q9NVK5

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: May be involved in wound healing pathway. {ECO:0000250}.

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 ZNF791-FGFR1


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 ZNF791-FGFR1


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 ZNF791-FGFR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ZNF791-FGFR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFGFR1C1563720Kallmann Syndrome 2 (disorder)18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGFR1C1845146Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate6GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR1C0011570Mental Depression5PSYGENET
TgeneFGFR1C0011581Depressive disorder5CTD_human;PSYGENET
TgeneFGFR1C0220658Pfeiffer Syndrome5GENOMICS_ENGLAND;UNIPROT
TgeneFGFR1C0432283Osteoglophonic dwarfism5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR1C0041696Unipolar Depression4CTD_human;PSYGENET
TgeneFGFR1C0406612Encephalocraniocutaneous lipomatosis4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFGFR1C0005586Bipolar Disorder3PSYGENET
TgeneFGFR1C0795998JACKSON-WEISS SYNDROME3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGFR1C1269683Major Depressive Disorder3PSYGENET
TgeneFGFR1C0006142Malignant neoplasm of breast2CGI;CTD_human
TgeneFGFR1C0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneFGFR1C0007137Squamous cell carcinoma2CTD_human
TgeneFGFR1C0027022Myeloproliferative disease2CTD_human
TgeneFGFR1C0162809Kallmann Syndrome2CTD_human;ORPHANET
TgeneFGFR1C0432122Interfrontal craniofaciosynostosis2GENOMICS_ENGLAND;UNIPROT
TgeneFGFR1C0678222Breast Carcinoma2CGI;CTD_human
TgeneFGFR1C1257931Mammary Neoplasms, Human2CTD_human
TgeneFGFR1C1458155Mammary Neoplasms2CTD_human
TgeneFGFR1C4704874Mammary Carcinoma, Human2CTD_human
TgeneFGFR1C0004114Astrocytoma1CTD_human
TgeneFGFR1C0008924Cleft upper lip1CTD_human
TgeneFGFR1C0008925Cleft Palate1CTD_human
TgeneFGFR1C0010278Craniosynostosis1CTD_human;GENOMICS_ENGLAND
TgeneFGFR1C0011573Endogenous depression1CTD_human
TgeneFGFR1C0017638Glioma1CTD_human
TgeneFGFR1C0018824Heart valve disease1CTD_human
TgeneFGFR1C0024121Lung Neoplasms1CTD_human
TgeneFGFR1C0025193Melancholia1CTD_human
TgeneFGFR1C0036341Schizophrenia1CTD_human
TgeneFGFR1C0085682Hypophosphatemia1GENOMICS_ENGLAND
TgeneFGFR1C0086133Depressive Syndrome1CTD_human
TgeneFGFR1C0149925Small cell carcinoma of lung1CTD_human
TgeneFGFR1C0205768Subependymal Giant Cell Astrocytoma1CTD_human
TgeneFGFR1C0206726gliosarcoma1ORPHANET
TgeneFGFR1C0242379Malignant neoplasm of lung1CTD_human
TgeneFGFR1C0259783mixed gliomas1CTD_human
TgeneFGFR1C0265535Trigonocephaly1CTD_human;ORPHANET
TgeneFGFR1C0280783Juvenile Pilocytic Astrocytoma1CTD_human
TgeneFGFR1C0280785Diffuse Astrocytoma1CTD_human
TgeneFGFR1C0282126Depression, Neurotic1CTD_human
TgeneFGFR1C0334579Anaplastic astrocytoma1CTD_human
TgeneFGFR1C0334580Protoplasmic astrocytoma1CTD_human
TgeneFGFR1C0334581Gemistocytic astrocytoma1CTD_human
TgeneFGFR1C0334582Fibrillary Astrocytoma1CTD_human
TgeneFGFR1C0334583Pilocytic Astrocytoma1CTD_human
TgeneFGFR1C0334588Giant Cell Glioblastoma1ORPHANET
TgeneFGFR1C0338070Childhood Cerebral Astrocytoma1CTD_human
TgeneFGFR1C0338503Septo-Optic Dysplasia1ORPHANET
TgeneFGFR1C0342384Idiopathic hypogonadotropic hypogonadism1GENOMICS_ENGLAND
TgeneFGFR1C0376634Craniofacial Abnormalities1CTD_human
TgeneFGFR1C0431362Lobar Holoprosencephaly1ORPHANET
TgeneFGFR1C0547065Mixed oligoastrocytoma1CTD_human
TgeneFGFR1C0555198Malignant Glioma1CTD_human
TgeneFGFR1C0750935Cerebral Astrocytoma1CTD_human
TgeneFGFR1C0750936Intracranial Astrocytoma1CTD_human
TgeneFGFR1C0751617Semilobar Holoprosencephaly1ORPHANET
TgeneFGFR1C1519086Pilomyxoid astrocytoma1ORPHANET
TgeneFGFR1C1704230Grade I Astrocytoma1CTD_human
TgeneFGFR1C1837218Cleft palate, isolated1CTD_human
TgeneFGFR1C1852406Cutis Gyrata Syndrome of Beare And Stevenson1GENOMICS_ENGLAND
TgeneFGFR1C2931196Craniofacial dysostosis type 11GENOMICS_ENGLAND
TgeneFGFR1C3150773CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME1ORPHANET