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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: 13888

FusionGeneSummary for FRMD4A_APBB1IP

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD4A_APBB1IP
Fusion gene ID: 13888
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 date2018051920180519
UniProtAcc

Q9P2Q2

Q7Z5R6

Ensembl transtripts involved in fusion geneENST00000358621, ENST00000357447, 
ENST00000378503, ENST00000342409, 
ENST00000493380, ENST00000475141, 
ENST00000492155, 
ENST00000376236, 
ENST00000356785, ENST00000493857, 
Fusion gene scores* DoF score6 X 4 X 5=1203 X 3 X 3=27
# samples 63
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FRMD4A [Title/Abstract] AND APBB1IP [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

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
TCGARVSKCMTCGA-ER-A196-01AFRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
* 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
Frame-shitENST00000358621ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000358621ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000358621ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
Frame-shitENST00000357447ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000357447ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000357447ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
In-frameENST00000378503ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000378503ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
5CDS-intronENST00000378503ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000342409ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000342409ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000342409ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000493380ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000493380ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000493380ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000475141ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000475141ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000475141ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-3CDSENST00000492155ENST00000376236FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000492155ENST00000356785FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+
intron-intronENST00000492155ENST00000493857FRMD4Achr10

13716911

-APBB1IPchr10

26800676

+

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FusionProtFeatures for FRMD4A_APBB1IP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMD4A

Q9P2Q2

APBB1IP

Q7Z5R6

Scaffolding protein that regulates epithelial cellpolarity by connecting ARF6 activation with the PAR3 complex (Bysimilarity). Plays a redundant role with FRMD4B in epithelialpolarization (By similarity). May regulate MAPT secretion byactivating ARF6-signaling (PubMed:27044754).{ECO:0000250|UniProtKB:Q8BIE6, ECO:0000269|PubMed:27044754}. Appears to function in the signal transduction from Rasactivation 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

- 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 FRMD4A_APBB1IP


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.
>In-frame_FRMD4A_ENST00000378503_chr10_13716911_-_APBB1IP_ENST00000376236_chr10_26800676_+_907aa
MAVQLVPDSALGLLMMTEGRRCQVHLLDDRKLELLVQPKLLAKELLDLVASHFNLKEKEYFGIAFTDETGHLNWLQLDRRVLEHDFPKKS
GPVVLYFCVRFTIESISYLKDNATIELFFLNAKSCIYKELIDVDSEVVFELASTILQEAKGDFSSNEVVRSDLKKLPALPTQALKEHPSL
AYCEDRVIEHYKKLNGQTRGQAIVNYMSIVESLPTYGVHTTAVKDKQGIPWWLGLSYKGIFQTDYHDKVKPRKIFQWRQLENLYFREKKF
SVEVHDPRRASVTRRTFGHSGIAVHTWTACPALIKSIWAMAISQHQFTLDRKQSKSKIHAARSLSEIAIDLTETGTLKTSKLANMGSKGK
IISGSSGSLLSSGSQESDSSQSAKKDMLAALKSRQEALEETLRQRLEELKKLCLREALVVKVHMNDNSTKSLMVDERQLARDVLDNLFEK
THCDCNVDWCLTEIYPELQIERFFEDHENVVEVLSDWTRDTENKILFLEKEEKTAVFKNPQNFYLDNRGKKESKETNEKMNAKNKESLLE
ESFCGTSIIVPELEGALTLKEDGKKSWKRRTFLLRASGITTVPKGKTKTSRDLACFIQFENVNIYTGTQHKMKTKAPTDTCFVLKHPQIQ
KESQTIKTLCCDDTRTLNQWVMGIRIAKTGKTLTDNYQRAVAKAGLASRWTNLGTVNAAAPAQPSTGPKTGTTQPNGQIPQATHSVSAVL
QEAQRHAETSKDKKPALGNHHDPAVPRAPHAPKSSLPPPPPVRRSSDTSGSPATPLKAKGTGGGGLPAPPDDFLPPPPPPPPLDDPELPP
PPPDFMEPPPDFVPPPPPSYAGIAGSELPPPPPPPPAPAPAPVPDSARPPPAVAKRPPVPPKRQENPGHPGGAGGGEQDFMSDLMKALQK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FRMD4A_ENST00000378503_chr10_13716911_-_APBB1IP_ENST00000376236_chr10_26800676_+_2721nt
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


* Fusion transcript sequences (Full-length transcript).
>In-frame_FRMD4A_ENST00000378503_chr10_13716911_-_APBB1IP_ENST00000376236_chr10_26800676_+_3036nt
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


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FusionGenePPI 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
FRMD4AHNRNPA1, TRAF3IP1, YEATS4, WDR83APBB1IPPACSIN1, PACSIN2, PACSIN3, PRPF40A, GAS7, NDN, ZDHHC17, PLEKHH1, ANXA13, SNW1


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 FRMD4A_APBB1IP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FRMD4A_APBB1IP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFRMD4AC0236969Substance-Related Disorders1CTD_human
TgeneAPBB1IPC0023893Liver Cirrhosis, Experimental1CTD_human