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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:FRMD4A-APBB1IP (FusionGDB2 ID:31321)

Fusion Gene Summary for FRMD4A-APBB1IP

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD4A-APBB1IP
Fusion gene ID: 31321
HgeneTgene
Gene symbol

FRMD4A

APBB1IP

Gene ID

55691

54518

Gene nameFERM domain containing 4Aamyloid beta precursor protein binding family B member 1 interacting protein
SynonymsCCAFCA|FRMD4|bA295P9.4INAG1|PREL1|RARP1|RIAM
Cytomap

10p13

10p12.1

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 4AFERM domain containing 4amyloid beta A4 precursor protein-binding family B member 1-interacting proteinAPBB1-interacting protein 1PREL-1RARP-1Rap1-GTP-interacting adaptor moleculeRap1-interacting adaptor moleculeproline rich EVH1 ligand 1proline-rich protein 73rap1-GTP-i
Modification date2020031320200313
UniProtAcc

Q9P2Q2

Q7Z5R6

Ensembl transtripts involved in fusion geneENST00000357447, ENST00000358621, 
ENST00000378503, ENST00000342409, 
ENST00000475141, ENST00000492155, 
ENST00000493380, 
ENST00000356785, 
ENST00000493857, ENST00000376236, 
Fusion gene scores* DoF score16 X 15 X 7=16806 X 9 X 5=270
# samples 177
** MAII scorelog2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/270*10)=-1.94753258010586
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD4A [Title/Abstract] AND APBB1IP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFRMD4A(13716911)-APBB1IP(26800676), # samples:3
Anticipated loss of major functional domain due to fusion event.FRMD4A-APBB1IP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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

check buttonFusion gene breakpoints across FRMD4A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across APBB1IP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4SKCMTCGA-ER-A196-01AFRMD4Achr10

13716911

-APBB1IPchr10

26800676

+


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Fusion Gene ORF analysis for FRMD4A-APBB1IP

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-intronENST00000357447ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000357447ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000358621ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000358621ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000378503ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000378503ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
Frame-shiftENST00000357447ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
Frame-shiftENST00000358621ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
In-frameENST00000378503ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000342409ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000475141ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000492155ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000493380ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000342409ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000342409ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000475141ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000475141ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000492155ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000492155ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000493380ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000493380ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+

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)
ENST00000378503FRMD4Achr1013716911-ENST00000376236APBB1IPchr1026800676+3036125102720906

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
ENST00000378503ENST00000376236FRMD4Achr1013716911-APBB1IPchr1026800676+0.0011031430.99889684

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Fusion Genomic Features for FRMD4A-APBB1IP


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)
FRMD4Achr1013716910-APBB1IPchr1026800675+4.50E-070.9999995
FRMD4Achr1013716910-APBB1IPchr1026800675+4.50E-070.9999995

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for FRMD4A-APBB1IP


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/chr10:13716911/chr10:26800676)
- 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
FRMD4A

Q9P2Q2

APBB1IP

Q7Z5R6

FUNCTION: Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754). {ECO:0000250|UniProtKB:Q8BIE6, ECO:0000269|PubMed:27044754}.FUNCTION: Appears to function in the signal transduction from Ras activation to actin cytoskeletal remodeling. Suppresses insulin-induced promoter activities through AP1 and SRE. Mediates Rap1-induced adhesion. {ECO:0000269|PubMed:14530287, ECO:0000269|PubMed:15469846}.

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
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000357447-1625382_4164172034.0Coiled coilOntology_term=ECO:0000255
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000378503-1523382_4164171040.0Coiled coilOntology_term=ECO:0000255
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000357447-162520_3224172034.0DomainFERM
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000378503-152320_3224171040.0DomainFERM
TgeneAPBB1IPchr10:13716911chr10:26800676ENST00000376236515503_640177667.0Compositional biasNote=Pro-rich
TgeneAPBB1IPchr10:13716911chr10:26800676ENST00000376236515176_263177667.0DomainRas-associating
TgeneAPBB1IPchr10:13716911chr10:26800676ENST00000376236515310_419177667.0DomainPH

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000357447-1625627_7564172034.0Compositional biasNote=Ser-rich
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000357447-1625935_10074172034.0Compositional biasNote=Ser-rich
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000378503-1523627_7564171040.0Compositional biasNote=Ser-rich
HgeneFRMD4Achr10:13716911chr10:26800676ENST00000378503-1523935_10074171040.0Compositional biasNote=Ser-rich
TgeneAPBB1IPchr10:13716911chr10:26800676ENST00000376236515129_148177667.0Compositional biasNote=Pro-rich
TgeneAPBB1IPchr10:13716911chr10:26800676ENST00000376236515152_155177667.0Compositional biasNote=Poly-Glu


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Fusion Gene Sequence for FRMD4A-APBB1IP


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.
>31321_31321_1_FRMD4A-APBB1IP_FRMD4A_chr10_13716911_ENST00000378503_APBB1IP_chr10_26800676_ENST00000376236_length(transcript)=3036nt_BP=1251nt
ATGGCAGTGCAGCTGGTGCCCGACTCAGCTCTCGGCCTGCTGATGATGACGGAGGGCCGCCGATGTCAAGTACATCTTCTTGATGACAGG
AAGCTGGAACTCCTAGTACAGCCCAAGCTGTTGGCCAAGGAGCTTCTTGACCTTGTGGCTTCTCACTTCAATCTGAAGGAAAAGGAGTAC
TTTGGAATAGCATTCACAGATGAAACGGGACACTTAAACTGGCTTCAGCTAGATCGAAGAGTATTGGAACATGACTTCCCTAAAAAGTCA
GGACCCGTGGTTTTATACTTTTGTGTCAGGTTCTATATAGAAAGCATTTCATACCTGAAGGATAATGCTACCATTGAGCTTTTCTTTCTG
AACGCGAAGTCCTGCATCTACAAGGAGCTTATTGACGTTGACAGCGAAGTGGTGTTTGAATTAGCTTCCTATATTTTACAGGAGGCAAAG
GGAGATTTTTCTAGCAATGAAGTTGTGAGGAGTGACTTGAAGAAGCTGCCAGCCCTTCCCACCCAAGCCCTGAAGGAGCACCCTTCCCTG
GCCTACTGTGAAGACAGAGTCATTGAGCACTACAAGAAACTGAACGGTCAGACAAGAGGTCAAGCAATCGTAAACTACATGAGCATCGTG
GAGTCTCTCCCAACCTACGGGGTTCACTATTATGCAGTGAAGGACAAGCAGGGCATACCATGGTGGCTGGGCCTGAGCTACAAAGGGATC
TTCCAGTATGACTACCATGATAAAGTGAAGCCAAGAAAGATATTCCAATGGAGACAGTTGGAAAACCTGTACTTCAGAGAAAAGAAGTTT
TCCGTGGAAGTTCATGACCCACGCAGGGCTTCAGTGACAAGGAGGACGTTTGGGCACAGCGGCATTGCAGTGCACACGTGGTATGCATGT
CCGGCATTGATCAAGTCCATCTGGGCTATGGCCATAAGCCAACACCAGTTCTATCTGGACAGAAAGCAGAGTAAGTCCAAAATCCATGCA
GCACGCAGCCTGAGTGAGATCGCCATCGACCTGACCGAGACGGGGACGCTGAAGACCTCGAAGCTGGCCAACATGGGTAGCAAGGGGAAG
ATCATCAGCGGCAGCAGCGGCAGCCTGCTGTCTTCAGGTTCTCAGGAATCAGATAGCTCGCAGTCGGCCAAGAAGGACATGCTGGCTGCC
TTGAAGTCCAGGCAGGAAGCTCTGGAGGAAACCCTGCGTCAGAGGCTGGAGGAACTGAAGAAGCTGTGTCTCCGAGAAGCTCTCGTCGTC
AAGGTGCACATGAATGATAACAGCACAAAGTCACTGATGGTGGATGAGCGGCAGCTGGCCCGAGATGTTCTGGACAACCTTTTCGAGAAA
ACTCATTGTGACTGCAATGTAGACTGGTGTCTTTATGAAATCTACCCGGAACTACAAATTGAGAGGTTTTTTGAAGACCATGAAAATGTT
GTTGAAGTCTTATCAGACTGGACAAGAGACACAGAAAATAAAATACTATTTTTGGAGAAAGAGGAGAAATATGCTGTATTTAAAAACCCC
CAGAATTTCTACTTGGATAACAGAGGAAAAAAAGAAAGCAAGGAAACTAATGAGAAAATGAATGCTAAGAACAAGGAATCCTTACTTGAG
GAAAGTTTCTGTGGAACATCTATCATTGTACCAGAACTGGAAGGAGCTCTTTATTTGAAAGAAGATGGAAAGAAATCCTGGAAAAGGCGC
TATTTTCTTTTACGGGCTTCTGGAATTTATTATGTACCCAAAGGAAAGACTAAGACATCTCGAGATCTGGCGTGTTTTATACAGTTTGAA
AATGTCAACATTTACTATGGGACTCAGCATAAAATGAAATATAAAGCGCCCACTGACTATTGCTTTGTTTTAAAGCACCCCCAAATTCAG
AAGGAGTCCCAGTATATCAAGTATCTCTGCTGTGATGACACAAGAACCCTTAACCAGTGGGTCATGGGAATACGGATAGCCAAGTATGGG
AAGACTCTCTATGATAACTACCAGCGGGCTGTGGCAAAGGCTGGACTTGCCTCTCGGTGGACAAACTTGGGGACAGTCAATGCAGCTGCA
CCAGCTCAGCCATCTACAGGACCTAAAACAGGCACCACCCAGCCCAATGGACAGATTCCCCAGGCTACACATTCTGTCAGTGCTGTTCTC
CAAGAGGCCCAGAGACATGCTGAAACATCGAAGGATAAGAAGCCAGCCCTCGGGAACCACCACGACCCGGCAGTGCCCCGGGCCCCGCAC
GCCCCCAAGTCCAGCCTGCCCCCGCCCCCTCCGGTGCGGAGGTCCTCCGACACCAGCGGCAGTCCCGCCACGCCCCTCAAGGCCAAGGGC
ACAGGCGGCGGGGGCTTGCCCGCCCCACCCGACGACTTCCTGCCGCCGCCGCCACCGCCGCCGCCCCTCGATGACCCTGAGCTCCCGCCG
CCGCCCCCGGACTTCATGGAGCCGCCCCCAGACTTCGTGCCCCCGCCCCCGCCGTCGTACGCAGGGATCGCGGGCTCAGAGCTGCCCCCG
CCGCCGCCGCCGCCGCCCGCGCCCGCGCCCGCCCCCGTCCCCGACTCCGCCAGGCCGCCCCCCGCGGTGGCCAAGAGGCCTCCTGTGCCC
CCCAAGAGGCAAGAGAACCCAGGGCACCCCGGCGGAGCAGGAGGCGGGGAGCAAGATTTCATGTCAGACCTCATGAAAGCTTTGCAAAAG
AAGAGAGGCAACGTGTCCTAGGGACGGGCATGATGAGTGTTCCAGAGGGAGAAGCATCGCTGACCCCGAGCGCAGGTTTTGCTAGCAGAT
TGCCCTGACATCTTGTTCATTTCAGATAAAATGTGATGGGAAACTTCTCACTGATGTGCTCAAGTACAGGCATAACCATTAACCCAGTAG
AGTTCAGAATATCTGCCCAAATGTACATATCGTTCCCATGTATTTTAACCTAAATGGAATGTATCTTCCCTTCCAAGCTGCCTAAAGCGC

>31321_31321_1_FRMD4A-APBB1IP_FRMD4A_chr10_13716911_ENST00000378503_APBB1IP_chr10_26800676_ENST00000376236_length(amino acids)=906AA_BP=417
MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEYFGIAFTDETGHLNWLQLDRRVLEHDFPKKS
GPVVLYFCVRFYIESISYLKDNATIELFFLNAKSCIYKELIDVDSEVVFELASYILQEAKGDFSSNEVVRSDLKKLPALPTQALKEHPSL
AYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHYYAVKDKQGIPWWLGLSYKGIFQYDYHDKVKPRKIFQWRQLENLYFREKKF
SVEVHDPRRASVTRRTFGHSGIAVHTWYACPALIKSIWAMAISQHQFYLDRKQSKSKIHAARSLSEIAIDLTETGTLKTSKLANMGSKGK
IISGSSGSLLSSGSQESDSSQSAKKDMLAALKSRQEALEETLRQRLEELKKLCLREALVVKVHMNDNSTKSLMVDERQLARDVLDNLFEK
THCDCNVDWCLYEIYPELQIERFFEDHENVVEVLSDWTRDTENKILFLEKEEKYAVFKNPQNFYLDNRGKKESKETNEKMNAKNKESLLE
ESFCGTSIIVPELEGALYLKEDGKKSWKRRYFLLRASGIYYVPKGKTKTSRDLACFIQFENVNIYYGTQHKMKYKAPTDYCFVLKHPQIQ
KESQYIKYLCCDDTRTLNQWVMGIRIAKYGKTLYDNYQRAVAKAGLASRWTNLGTVNAAAPAQPSTGPKTGTTQPNGQIPQATHSVSAVL
QEAQRHAETSKDKKPALGNHHDPAVPRAPHAPKSSLPPPPPVRRSSDTSGSPATPLKAKGTGGGGLPAPPDDFLPPPPPPPPLDDPELPP
PPPDFMEPPPDFVPPPPPSYAGIAGSELPPPPPPPPAPAPAPVPDSARPPPAVAKRPPVPPKRQENPGHPGGAGGGEQDFMSDLMKALQK

--------------------------------------------------------------

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Fusion Gene PPI Analysis for FRMD4A-APBB1IP


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 FRMD4A-APBB1IP


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 FRMD4A-APBB1IP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource