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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:NUMA1-FOLR1 (FusionGDB2 ID:60531)

Fusion Gene Summary for NUMA1-FOLR1

check button Fusion gene summary
Fusion gene informationFusion gene name: NUMA1-FOLR1
Fusion gene ID: 60531
HgeneTgene
Gene symbol

NUMA1

FOLR1

Gene ID

4926

2350

Gene namenuclear mitotic apparatus protein 1folate receptor beta
SynonymsNMP-22|NUMABETA-HFR|FBP|FBP/PL-1|FOLR1|FR-BETA|FR-P3|FRbeta
Cytomap

11q13.4

11q13.4

Type of geneprotein-codingprotein-coding
Descriptionnuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear proteinfolate receptor betafolate receptor 2 (fetal)folate receptor alphafolate receptor, fetal/placentalfolate-binding protein, fetal/placentalplacental folate-binding protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000351960, ENST00000358965, 
ENST00000393695, ENST00000543450, 
ENST00000312293, ENST00000393681, 
ENST00000393679, ENST00000393676, 
Fusion gene scores* DoF score36 X 22 X 17=134646 X 7 X 3=126
# samples 437
** MAII scorelog2(43/13464*10)=-4.96862661174049
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NUMA1 [Title/Abstract] AND FOLR1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNUMA1(71791504)-FOLR1(71906315), # samples:1
NUMA1(71780888)-FOLR1(71903210), # 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
HgeneNUMA1

GO:0000132

establishment of mitotic spindle orientation

21816348

HgeneNUMA1

GO:0030953

astral microtubule organization

12445386

HgeneNUMA1

GO:0060236

regulation of mitotic spindle organization

26195665

HgeneNUMA1

GO:1902365

positive regulation of protein localization to spindle pole body

16076287

TgeneFOLR1

GO:0002548

monocyte chemotaxis

25015955

TgeneFOLR1

GO:0015884

folic acid transport

4066659


check buttonFusion gene breakpoints across NUMA1 (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 FOLR1 (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
ChimerDB4LGGTCGA-E1-5302-01ANUMA1chr11

71791504

-FOLR1chr11

71906315

+
ChimerDB4LGGTCGA-E1-5302-01ANUMA1chr11

71780888

-FOLR1chr11

71903210

+


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Fusion Gene ORF analysis for NUMA1-FOLR1

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-3CDSENST00000351960ENST00000312293NUMA1chr11

71791504

-FOLR1chr11

71906315

+
intron-3CDSENST00000351960ENST00000393681NUMA1chr11

71791504

-FOLR1chr11

71906315

+
intron-3CDSENST00000351960ENST00000393679NUMA1chr11

71791504

-FOLR1chr11

71906315

+
intron-3CDSENST00000351960ENST00000393676NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000358965ENST00000312293NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000358965ENST00000393681NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000358965ENST00000393679NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000358965ENST00000393676NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000393695ENST00000312293NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000393695ENST00000393681NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000393695ENST00000393679NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000393695ENST00000393676NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000543450ENST00000312293NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000543450ENST00000393681NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000543450ENST00000393679NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-3CDSENST00000543450ENST00000393676NUMA1chr11

71791504

-FOLR1chr11

71906315

+
5UTR-5UTRENST00000351960ENST00000312293NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000351960ENST00000393681NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000351960ENST00000393679NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000351960ENST00000393676NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000358965ENST00000312293NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000358965ENST00000393681NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000358965ENST00000393679NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000358965ENST00000393676NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000393695ENST00000312293NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000393695ENST00000393681NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000393695ENST00000393679NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000393695ENST00000393676NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000543450ENST00000312293NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000543450ENST00000393681NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000543450ENST00000393679NUMA1chr11

71780888

-FOLR1chr11

71903210

+
5UTR-5UTRENST00000543450ENST00000393676NUMA1chr11

71780888

-FOLR1chr11

71903210

+

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 NUMA1-FOLR1


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)
NUMA1chr1171780887-FOLR1chr1171903209+7.25E-060.9999927
NUMA1chr1171791503-FOLR1chr1171906314+1.27E-070.9999999
NUMA1chr1171780887-FOLR1chr1171903209+7.25E-060.9999927
NUMA1chr1171791503-FOLR1chr1171906314+1.27E-070.9999999

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 NUMA1-FOLR1


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
..
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: 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.

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 NUMA1-FOLR1


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 NUMA1-FOLR1


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 NUMA1-FOLR1


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 NUMA1-FOLR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUMA1C0023487Acute Promyelocytic Leukemia1CTD_human;ORPHANET
HgeneNUMA1C0162820Dermatitis, Allergic Contact1CTD_human
TgeneFOLR1C2751584Neurodegeneration Due To Cerebral Folate Transport Deficiency16CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneFOLR1C0007102Malignant tumor of colon2CTD_human
TgeneFOLR1C0009375Colonic Neoplasms2CTD_human
TgeneFOLR1C0000768Congenital Abnormality1CTD_human
TgeneFOLR1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneFOLR1C0011999Diastematomyelia1CTD_human
TgeneFOLR1C0014544Epilepsy1CTD_human
TgeneFOLR1C0018798Congenital Heart Defects1CTD_human
TgeneFOLR1C0020796Profound Mental Retardation1CTD_human
TgeneFOLR1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneFOLR1C0026650Movement Disorders1CTD_human
TgeneFOLR1C0027794Neural Tube Defects1CTD_human
TgeneFOLR1C0027806Neurenteric Cyst1CTD_human
TgeneFOLR1C0029463Osteosarcoma1CTD_human
TgeneFOLR1C0033922Psychomotor Disorders1CTD_human
TgeneFOLR1C0036572Seizures1GENOMICS_ENGLAND
TgeneFOLR1C0080218Tethered Cord Syndrome1CTD_human
TgeneFOLR1C0086237Epilepsy, Cryptogenic1CTD_human
TgeneFOLR1C0152234Iniencephaly1CTD_human
TgeneFOLR1C0152426Craniorachischisis1CTD_human
TgeneFOLR1C0236018Aura1CTD_human
TgeneFOLR1C0266453Exencephaly1CTD_human
TgeneFOLR1C0266487Etat Marbre1CTD_human
TgeneFOLR1C0344479Spinal Cord Myelodysplasia1CTD_human
TgeneFOLR1C0376634Craniofacial Abnormalities1CTD_human
TgeneFOLR1C0424230Motor retardation1CTD_human
TgeneFOLR1C0702169Acrania1CTD_human
TgeneFOLR1C0751111Awakening Epilepsy1CTD_human
TgeneFOLR1C0751456Developmental Psychomotor Disorders1CTD_human
TgeneFOLR1C0752107Brain Diseases, Metabolic, Inherited1CTD_human
TgeneFOLR1C0752109Brain Diseases, Metabolic, Inborn1CTD_human
TgeneFOLR1C0752110Central Nervous System Inborn Metabolic Diseases1CTD_human
TgeneFOLR1C0917816Mental deficiency1CTD_human
TgeneFOLR1C0919267ovarian neoplasm1CTD_human
TgeneFOLR1C1140680Malignant neoplasm of ovary1CTD_human
TgeneFOLR1C3714756Intellectual Disability1CTD_human