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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:APLP2-SERPING1 (FusionGDB2 ID:5570)

Fusion Gene Summary for APLP2-SERPING1

check button Fusion gene summary
Fusion gene informationFusion gene name: APLP2-SERPING1
Fusion gene ID: 5570
HgeneTgene
Gene symbol

APLP2

SERPING1

Gene ID

334

710

Gene nameamyloid beta precursor like protein 2serpin family G member 1
SynonymsAPLP-2|APPH|APPL2|CDEBPC1IN|C1INH|C1NH|HAE1|HAE2
Cytomap

11q24.3

11q12.1

Type of geneprotein-codingprotein-coding
Descriptionamyloid-like protein 2CDEI box-binding proteinamyloid beta (A4) precursor-like protein 2amyloid precursor protein homolog HSD-2testicular tissue protein Li 23plasma protease C1 inhibitorC1 esterase inhibitorC1-inhibiting factorC1-inhibitorcomplement component 1 inhibitorepididymis secretory sperm binding proteinserine/cysteine proteinase inhibitor clade G member 1serpin G1serpin peptidase inhibitor cla
Modification date2020031320200313
UniProtAcc

Q06481

.
Ensembl transtripts involved in fusion geneENST00000532456, ENST00000539648, 
ENST00000528499, ENST00000263574, 
ENST00000345598, ENST00000338167, 
ENST00000278756, ENST00000543137, 
ENST00000278407, ENST00000340687, 
ENST00000378323, ENST00000378324, 
ENST00000403558, ENST00000531605, 
Fusion gene scores* DoF score32 X 25 X 10=800011 X 13 X 6=858
# samples 3613
** MAII scorelog2(36/8000*10)=-4.47393118833241
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/858*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APLP2 [Title/Abstract] AND SERPING1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPLP2(130013770)-SERPING1(57373594), # 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
TgeneSERPING1

GO:0001869

negative regulation of complement activation, lectin pathway

10946292


check buttonFusion gene breakpoints across APLP2 (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 SERPING1 (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
ChiTaRS5.0N/ACB162631APLP2chr11

130013770

+SERPING1chr11

57373594

+


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Fusion Gene ORF analysis for APLP2-SERPING1

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-3CDSENST00000532456ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000532456ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000532456ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000532456ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000532456ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-intronENST00000532456ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000539648ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000539648ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000539648ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000539648ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000539648ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-intronENST00000539648ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000528499ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000528499ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000528499ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000528499ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000528499ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-intronENST00000528499ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000263574ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000263574ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000263574ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000263574ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000263574ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-intronENST00000263574ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000345598ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000345598ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000345598ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000345598ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-3CDSENST00000345598ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
intron-intronENST00000345598ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000338167ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000338167ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000338167ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000338167ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000338167ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-intronENST00000338167ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000278756ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000278756ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000278756ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000278756ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000278756ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-intronENST00000278756ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000543137ENST00000278407APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000543137ENST00000340687APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000543137ENST00000378323APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000543137ENST00000378324APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-3CDSENST00000543137ENST00000403558APLP2chr11

130013770

+SERPING1chr11

57373594

+
3UTR-intronENST00000543137ENST00000531605APLP2chr11

130013770

+SERPING1chr11

57373594

+

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 APLP2-SERPING1


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 APLP2-SERPING1


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
APLP2

Q06481

.
FUNCTION: May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts (By similarity). {ECO:0000250, ECO:0000269|PubMed:8307156}.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 APLP2-SERPING1


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 APLP2-SERPING1


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 APLP2-SERPING1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneAPLP2Q06481DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneAPLP2Q06481DB14548Zinc sulfate, unspecified formLigandSmall moleculeApproved|Experimental
HgeneAPLP2Q06481DB01593ZincCofactorSmall moleculeApproved|Investigational
HgeneAPLP2Q06481DB01593ZincCofactorSmall moleculeApproved|Investigational
HgeneAPLP2Q06481DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneAPLP2Q06481DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneAPLP2Q06481DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational
HgeneAPLP2Q06481DB14533Zinc chlorideLigandSmall moleculeApproved|Investigational

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Related Diseases for APLP2-SERPING1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPLP2C0027746Nerve Degeneration1CTD_human
HgeneAPLP2C0151744Myocardial Ischemia1CTD_human
TgeneSERPING1C2717906Hereditary Angioedema Type I19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSERPING1C0019243Angioedemas, Hereditary7CTD_human;GENOMICS_ENGLAND
TgeneSERPING1C1862892Hereditary Angioedema Type II4CTD_human;ORPHANET
TgeneSERPING1C2717905Hereditary Angioedema Types I and II3CTD_human
TgeneSERPING1C2931758Acquired angioedema2CTD_human
TgeneSERPING1C0019193Hepatitis, Toxic1CTD_human
TgeneSERPING1C0021400Influenza1CTD_human
TgeneSERPING1C0023890Liver Cirrhosis1CTD_human
TgeneSERPING1C0024121Lung Neoplasms1CTD_human
TgeneSERPING1C0024143Lupus Nephritis1CTD_human
TgeneSERPING1C0239946Fibrosis, Liver1CTD_human
TgeneSERPING1C0242379Malignant neoplasm of lung1CTD_human
TgeneSERPING1C0272242Complement deficiency disease1GENOMICS_ENGLAND
TgeneSERPING1C0398775Hereditary C1 esterase inhibitor deficiency - deficient factor1ORPHANET
TgeneSERPING1C0398776Hereditary C1 esterase inhibitor deficiency - dysfunctional factor1ORPHANET
TgeneSERPING1C0860207Drug-Induced Liver Disease1CTD_human
TgeneSERPING1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneSERPING1C1852700Complement Component 4, Partial Deficiency Of1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneSERPING1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneSERPING1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneSERPING1C4279912Chemically-Induced Liver Toxicity1CTD_human