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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:ASAP2-ERI3 (FusionGDB2 ID:7070)

Fusion Gene Summary for ASAP2-ERI3

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAP2-ERI3
Fusion gene ID: 7070
HgeneTgene
Gene symbol

ASAP2

ERI3

Gene ID

8853

79033

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 2ERI1 exoribonuclease family member 3
SynonymsAMAP2|CENTB3|DDEF2|PAG3|PAP|Pap-alpha|SHAG1PINT1|PRNPIP
Cytomap

2p25.1|2p24

1p34.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2PYK2 C terminus-associated proteincentaurin, beta 3development and differentiation-enhancing factor 2paxillin-associated protein with ARF GAP activity 3pyk2 C-terminus-associated pERI1 exoribonuclease 3enhanced RNAi three prime mRNA exonuclease homolog 3prion interactor 1prion protein-interacting protein
Modification date2020032720200313
UniProtAcc

O43150

O43414

Ensembl transtripts involved in fusion geneENST00000281419, ENST00000315273, 
ENST00000491413, 		ENST00000372259, 
ENST00000372257, ENST00000537474, 
ENST00000495828, 
Fusion gene scores* DoF score10 X 15 X 8=120010 X 7 X 7=490
# samples 169
** MAII scorelog2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/490*10)=-2.4447848426729
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASAP2 [Title/Abstract] AND ERI3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASAP2(9460466)-ERI3(44687312), # samples:1
Anticipated loss of major functional domain due to fusion event.ASAP2-ERI3 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 ASAP2 (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 ERI3 (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
ChimerDB4UCECTCGA-B5-A0K3ASAP2chr2

9460466

+ERI3chr1

44687312

-


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Fusion Gene ORF analysis for ASAP2-ERI3

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-shiftENST00000281419ENST00000372259ASAP2chr2

9460466

+ERI3chr1

44687312

-
In-frameENST00000281419ENST00000372257ASAP2chr2

9460466

+ERI3chr1

44687312

-
Frame-shiftENST00000281419ENST00000537474ASAP2chr2

9460466

+ERI3chr1

44687312

-
5CDS-intronENST00000281419ENST00000495828ASAP2chr2

9460466

+ERI3chr1

44687312

-
Frame-shiftENST00000315273ENST00000372259ASAP2chr2

9460466

+ERI3chr1

44687312

-
In-frameENST00000315273ENST00000372257ASAP2chr2

9460466

+ERI3chr1

44687312

-
Frame-shiftENST00000315273ENST00000537474ASAP2chr2

9460466

+ERI3chr1

44687312

-
5CDS-intronENST00000315273ENST00000495828ASAP2chr2

9460466

+ERI3chr1

44687312

-
intron-3CDSENST00000491413ENST00000372259ASAP2chr2

9460466

+ERI3chr1

44687312

-
intron-3CDSENST00000491413ENST00000372257ASAP2chr2

9460466

+ERI3chr1

44687312

-
intron-3CDSENST00000491413ENST00000537474ASAP2chr2

9460466

+ERI3chr1

44687312

-
intron-intronENST00000491413ENST00000495828ASAP2chr2

9460466

+ERI3chr1

44687312

-

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)
ENST00000281419ASAP2chr29460466+ENST00000372257ERI3chr144687312-13818103401341333
ENST00000315273ASAP2chr29460466+ENST00000372257ERI3chr144687312-13818103401341333

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
ENST00000281419ENST00000372257ASAP2chr29460466+ERI3chr144687312-0.079712510.9202875
ENST00000315273ENST00000372257ASAP2chr29460466+ERI3chr144687312-0.079712510.9202875

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Fusion Genomic Features for ASAP2-ERI3


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 ASAP2-ERI3


check button Go to

FGviewer for the breakpoints of chr2:9460466-chr1:44687312

.
- 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
ASAP2

O43150

ERI3

O43414

FUNCTION: Activates the small GTPases ARF1, ARF5 and ARF6. Regulates the formation of post-Golgi vesicles and modulates constitutive secretion. Modulates phagocytosis mediated by Fc gamma receptor and ARF6. Modulates PXN recruitment to focal contacts and cell migration. {ECO:0000269|PubMed:10022920, ECO:0000269|PubMed:10749932, ECO:0000269|PubMed:11304556}.

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
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528256_283156.666666666666661007.0Coiled coilOntology_term=ECO:0000255
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528729_752156.666666666666661007.0Coiled coilOntology_term=ECO:0000255
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527256_283156.66666666666666962.0Coiled coilOntology_term=ECO:0000255
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527729_752156.66666666666666962.0Coiled coilOntology_term=ECO:0000255
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528771_936156.666666666666661007.0Compositional biasNote=Pro-rich
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527771_936156.66666666666666962.0Compositional biasNote=Pro-rich
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528305_397156.666666666666661007.0DomainPH
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528421_543156.666666666666661007.0DomainArf-GAP
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528944_1006156.666666666666661007.0DomainSH3
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527305_397156.66666666666666962.0DomainPH
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527421_543156.66666666666666962.0DomainArf-GAP
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527944_1006156.66666666666666962.0DomainSH3
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528584_616156.666666666666661007.0RepeatNote=ANK 1
HgeneASAP2chr2:9460466chr1:44687312ENST00000281419+528620_649156.666666666666661007.0RepeatNote=ANK 2
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527584_616156.66666666666666962.0RepeatNote=ANK 1
HgeneASAP2chr2:9460466chr1:44687312ENST00000315273+527620_649156.66666666666666962.0RepeatNote=ANK 2
TgeneERI3chr2:9460466chr1:44687312ENST0000037225779146_320310.3333333333333338.0DomainNote=Exonuclease
TgeneERI3chr2:9460466chr1:44687312ENST0000037225957146_320195.33333333333334223.0DomainNote=Exonuclease


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Fusion Gene Sequence for ASAP2-ERI3


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.
>In-frame_ENST00000281419_ENST00000372257_TCGA-B5-A0K3_ASAP2_chr2_9460466_+_ERI3_chr1_44687312_length(transcript)=1381nt_BP=810nt
CGCCCCTCTCCGCGGGAGGCGTCGGGGCCCGCGGCTGGGTGGCGGGTAGTTCCCGCCGGCTGTGCGCGCCCGCCTCGGGGCTCGCTCTGA
GAGGACGCGGCGGCAGCGGACTCGGAGCCCTCGGCGCGCAGGCGGGCGGACCGGCCGAGCTGCGCGGGGCTGCGCGCCGCCCCTGCTCCG
CCGCCAGGCCCCGCGCGGCTCCCGCGCCCGGCGCTCCCCTTTGTCCGCGGGCCGGAGCGGCGGCGGCAGCGGCGGTGTCCGAGCGGCGGT
CGGAGCCTGCTGCGGCAGTTGAGGCGGCGGCGCCCCTGCGGCTGTGCGCCAGCGCCCTCGCGCCGAGGCGATGCCGGACCAGATCTCCGT
GTCGGAATTCGTGGCCGAGACCCATGAGGACTACAAGGCGCCCACGGCCTCCAGCTTCACCACCCGCACGGCGCAGTGCCGGAACACTGT
GGCGGCCATCGAGGAGGCTTTGGACGTGGACCGGATGGTTCTTTACAAAATGAAGAAATCCGTGAAAGCAATCAACAGCTCTGGGCTGGC
TCACGTGGAAAATGAAGAGCAGTACACCCAGGCTCTGGAGAAGTTTGGCGGCAACTGTGTATGCAGAGATGACCCAGATTTAGGAAGTGC
GTTCCTGAAGTTCTCAGTGTTTACAAAGGAGTTGACAGCACTTTTCAAAAACCTGATTCAGAATATGAACAACATAATCTCCTTCCCTTT
GGACAGTTTGCTGAAGGGGGACCTGAAAGGAGTGAAAGGGGATCTGAAAAAGCCTTTTGATAAAGCTTGGAAGGACTATGAAACAAAAAT
ACGACTGCAAGAACATTGCCAACATCATGAAGACACTCGCCTATCGAGGCTTCATCTTCAAGCAGACATCGAAGCCGTTCTGATTGGCCG
AGGACAGGATGGGGCAGGACAGGGTAGCTGTTTGGCCCAGCCCAGAATCCTCCTCTCCCTCACCAGAGGGGAAGAGGGAGAGTGGCATAG
CTCTGTGTCCAGAGTGTCCCCAGCTGCCCTGTGGGCTCATGCCCTTGGCGTGGGCTTGTGCCCTTGCAAGGGCTTGGCCACTTGGCCCTT
CTGGAGCAGACACTTTGTGCCCCCCATCCCCACCCCTCAATCTCAGCCCAGTATCAGCCCCTCCCATTGCGGGCCTGGGCTAGGGGGACC
CAGGCACTCACCGCCTCCTCCCTGGTACACAGGCTTCTGTGGGGCCACCAAGCCCCTCCTGTGCCCCCTCCCATCCATAGTGCATGGTGT
GTGGTGCCCCCAGGGCTCCAGGACAGATCAGGCCCCACCTTGTGTCTACCCCCATCCCCGCTGTGAACGTGCCACTGAATAAAGTCGGGG

>In-frame_ENST00000281419_ENST00000372257_TCGA-B5-A0K3_ASAP2_chr2_9460466_+_ERI3_chr1_44687312_length(amino acids)=333AA_start in transcript=340_stop in transcript=1341
MPDQISVSEFVAETHEDYKAPTASSFTTRTAQCRNTVAAIEEALDVDRMVLYKMKKSVKAINSSGLAHVENEEQYTQALEKFGGNCVCRD
DPDLGSAFLKFSVFTKELTALFKNLIQNMNNIISFPLDSLLKGDLKGVKGDLKKPFDKAWKDYETKIRLQEHCQHHEDTRLSRLHLQADI
EAVLIGRGQDGAGQGSCLAQPRILLSLTRGEEGEWHSSVSRVSPAALWAHALGVGLCPCKGLATWPFWSRHFVPPIPTPQSQPSISPSHC

--------------------------------------------------------------
>In-frame_ENST00000315273_ENST00000372257_TCGA-B5-A0K3_ASAP2_chr2_9460466_+_ERI3_chr1_44687312_length(transcript)=1381nt_BP=810nt
CGCCCCTCTCCGCGGGAGGCGTCGGGGCCCGCGGCTGGGTGGCGGGTAGTTCCCGCCGGCTGTGCGCGCCCGCCTCGGGGCTCGCTCTGA
GAGGACGCGGCGGCAGCGGACTCGGAGCCCTCGGCGCGCAGGCGGGCGGACCGGCCGAGCTGCGCGGGGCTGCGCGCCGCCCCTGCTCCG
CCGCCAGGCCCCGCGCGGCTCCCGCGCCCGGCGCTCCCCTTTGTCCGCGGGCCGGAGCGGCGGCGGCAGCGGCGGTGTCCGAGCGGCGGT
CGGAGCCTGCTGCGGCAGTTGAGGCGGCGGCGCCCCTGCGGCTGTGCGCCAGCGCCCTCGCGCCGAGGCGATGCCGGACCAGATCTCCGT
GTCGGAATTCGTGGCCGAGACCCATGAGGACTACAAGGCGCCCACGGCCTCCAGCTTCACCACCCGCACGGCGCAGTGCCGGAACACTGT
GGCGGCCATCGAGGAGGCTTTGGACGTGGACCGGATGGTTCTTTACAAAATGAAGAAATCCGTGAAAGCAATCAACAGCTCTGGGCTGGC
TCACGTGGAAAATGAAGAGCAGTACACCCAGGCTCTGGAGAAGTTTGGCGGCAACTGTGTATGCAGAGATGACCCAGATTTAGGAAGTGC
GTTCCTGAAGTTCTCAGTGTTTACAAAGGAGTTGACAGCACTTTTCAAAAACCTGATTCAGAATATGAACAACATAATCTCCTTCCCTTT
GGACAGTTTGCTGAAGGGGGACCTGAAAGGAGTGAAAGGGGATCTGAAAAAGCCTTTTGATAAAGCTTGGAAGGACTATGAAACAAAAAT
ACGACTGCAAGAACATTGCCAACATCATGAAGACACTCGCCTATCGAGGCTTCATCTTCAAGCAGACATCGAAGCCGTTCTGATTGGCCG
AGGACAGGATGGGGCAGGACAGGGTAGCTGTTTGGCCCAGCCCAGAATCCTCCTCTCCCTCACCAGAGGGGAAGAGGGAGAGTGGCATAG
CTCTGTGTCCAGAGTGTCCCCAGCTGCCCTGTGGGCTCATGCCCTTGGCGTGGGCTTGTGCCCTTGCAAGGGCTTGGCCACTTGGCCCTT
CTGGAGCAGACACTTTGTGCCCCCCATCCCCACCCCTCAATCTCAGCCCAGTATCAGCCCCTCCCATTGCGGGCCTGGGCTAGGGGGACC
CAGGCACTCACCGCCTCCTCCCTGGTACACAGGCTTCTGTGGGGCCACCAAGCCCCTCCTGTGCCCCCTCCCATCCATAGTGCATGGTGT
GTGGTGCCCCCAGGGCTCCAGGACAGATCAGGCCCCACCTTGTGTCTACCCCCATCCCCGCTGTGAACGTGCCACTGAATAAAGTCGGGG

>In-frame_ENST00000315273_ENST00000372257_TCGA-B5-A0K3_ASAP2_chr2_9460466_+_ERI3_chr1_44687312_length(amino acids)=333AA_start in transcript=340_stop in transcript=1341
MPDQISVSEFVAETHEDYKAPTASSFTTRTAQCRNTVAAIEEALDVDRMVLYKMKKSVKAINSSGLAHVENEEQYTQALEKFGGNCVCRD
DPDLGSAFLKFSVFTKELTALFKNLIQNMNNIISFPLDSLLKGDLKGVKGDLKKPFDKAWKDYETKIRLQEHCQHHEDTRLSRLHLQADI
EAVLIGRGQDGAGQGSCLAQPRILLSLTRGEEGEWHSSVSRVSPAALWAHALGVGLCPCKGLATWPFWSRHFVPPIPTPQSQPSISPSHC

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

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Fusion Gene PPI Analysis for ASAP2-ERI3


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 ASAP2-ERI3


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 ASAP2-ERI3


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