FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AMBP-APOA1 (FusionGDB2 ID:4244)

Fusion Gene Summary for AMBP-APOA1

check button Fusion gene summary
Fusion gene informationFusion gene name: AMBP-APOA1
Fusion gene ID: 4244
HgeneTgene
Gene symbol

AMBP

APOA1

Gene ID

259

335

Gene namealpha-1-microglobulin/bikunin precursorapolipoprotein A1
SynonymsA1M|EDC1|HCP|HI30|IATIL|ITI|ITIL|ITILC|UTIHPALP2|apo(a)
Cytomap

9q32

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionprotein AMBPbikunincomplex-forming glycoprotein heterogeneous in chargegrowth-inhibiting protein 19inter-alpha-trypsin inhibitor light chainprotein HCtrypstatinuristatinuronic-acid-rich proteinapolipoprotein A-Iapo-AIepididymis secretory sperm binding protein
Modification date2020031320200329
UniProtAcc

P02760

P02647

Ensembl transtripts involved in fusion geneENST00000265132, ENST00000375320, 
ENST00000359492, ENST00000375329, 
ENST00000375323, ENST00000236850, 
Fusion gene scores* DoF score21 X 10 X 3=6304 X 3 X 2=24
# samples 224
** MAII scorelog2(22/630*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AMBP [Title/Abstract] AND APOA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAMBP(116822517)-APOA1(116706692), # 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
TgeneAPOA1

GO:0002740

negative regulation of cytokine secretion involved in immune response

12458630

TgeneAPOA1

GO:0006656

phosphatidylcholine biosynthetic process

4335615

TgeneAPOA1

GO:0007179

transforming growth factor beta receptor signaling pathway

23726972

TgeneAPOA1

GO:0007186

G protein-coupled receptor signaling pathway

16443932

TgeneAPOA1

GO:0007229

integrin-mediated signaling pathway

23726972

TgeneAPOA1

GO:0010804

negative regulation of tumor necrosis factor-mediated signaling pathway

21571275

TgeneAPOA1

GO:0010873

positive regulation of cholesterol esterification

4335615

TgeneAPOA1

GO:0010875

positive regulation of cholesterol efflux

27472885

TgeneAPOA1

GO:0010903

negative regulation of very-low-density lipoprotein particle remodeling

14967812

TgeneAPOA1

GO:0018158

protein oxidation

12576517

TgeneAPOA1

GO:0018206

peptidyl-methionine modification

12576517

TgeneAPOA1

GO:0030301

cholesterol transport

10559507

TgeneAPOA1

GO:0032489

regulation of Cdc42 protein signal transduction

16443932

TgeneAPOA1

GO:0033344

cholesterol efflux

11162594|14703508|15358760|16443932|21481393

TgeneAPOA1

GO:0033700

phospholipid efflux

11162594|14703508

TgeneAPOA1

GO:0034115

negative regulation of heterotypic cell-cell adhesion

21571275

TgeneAPOA1

GO:0034375

high-density lipoprotein particle remodeling

21481393

TgeneAPOA1

GO:0034380

high-density lipoprotein particle assembly

190223

TgeneAPOA1

GO:0035025

positive regulation of Rho protein signal transduction

23726972

TgeneAPOA1

GO:0042632

cholesterol homeostasis

21571275

TgeneAPOA1

GO:0050713

negative regulation of interleukin-1 beta secretion

12458630

TgeneAPOA1

GO:0050728

negative regulation of inflammatory response

21571275

TgeneAPOA1

GO:0050766

positive regulation of phagocytosis

20495215

TgeneAPOA1

GO:0050821

protein stabilization

17655203|20495215

TgeneAPOA1

GO:0050919

negative chemotaxis

23726972

TgeneAPOA1

GO:0051345

positive regulation of hydrolase activity

7638166

TgeneAPOA1

GO:0051496

positive regulation of stress fiber assembly

23726972

TgeneAPOA1

GO:0055091

phospholipid homeostasis

21571275

TgeneAPOA1

GO:0060354

negative regulation of cell adhesion molecule production

21571275

TgeneAPOA1

GO:0060761

negative regulation of response to cytokine stimulus

21571275

TgeneAPOA1

GO:0070328

triglyceride homeostasis

21571275

TgeneAPOA1

GO:0070371

ERK1 and ERK2 cascade

23726972

TgeneAPOA1

GO:1900026

positive regulation of substrate adhesion-dependent cell spreading

23726972

TgeneAPOA1

GO:1902995

positive regulation of phospholipid efflux

27472885


check buttonFusion gene breakpoints across AMBP (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 APOA1 (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
ChimerDB4LIHCTCGA-BD-A2L6-01AAMBPchr9

116822517

-APOA1chr11

116706692

-


Top

Fusion Gene ORF analysis for AMBP-APOA1

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-3CDSENST00000265132ENST00000375320AMBPchr9

116822517

-APOA1chr11

116706692

-
intron-3CDSENST00000265132ENST00000359492AMBPchr9

116822517

-APOA1chr11

116706692

-
intron-3CDSENST00000265132ENST00000375329AMBPchr9

116822517

-APOA1chr11

116706692

-
intron-3CDSENST00000265132ENST00000375323AMBPchr9

116822517

-APOA1chr11

116706692

-
intron-3CDSENST00000265132ENST00000236850AMBPchr9

116822517

-APOA1chr11

116706692

-

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

Top

Fusion Genomic Features for AMBP-APOA1


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.

Top

Fusion Protein Features for AMBP-APOA1


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
AMBP

P02760

APOA1

P02647

FUNCTION: Inter-alpha-trypsin inhibitor inhibits trypsin, plasmin, and lysosomal granulocytic elastase. Inhibits calcium oxalate crystallization. {ECO:0000269|PubMed:7676539}.; FUNCTION: Trypstatin is a trypsin inhibitor. {ECO:0000250}.FUNCTION: Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility. {ECO:0000269|PubMed:1909888}.

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


Top

Fusion Gene Sequence for AMBP-APOA1


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.

Top

Fusion Gene PPI Analysis for AMBP-APOA1


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


Top

Related Drugs for AMBP-APOA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneAPOA1P02647DB14548Zinc sulfate, unspecified formInducer|LigandSmall moleculeApproved|Experimental
TgeneAPOA1P02647DB01593ZincSmall moleculeApproved|Investigational
TgeneAPOA1P02647DB09130CopperSmall moleculeApproved|Investigational
TgeneAPOA1P02647DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneAPOA1P02647DB14533Zinc chlorideInducer|LigandSmall moleculeApproved|Investigational

Top

Related Diseases for AMBP-APOA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAMBPC0022660Kidney Failure, Acute2CTD_human
HgeneAMBPC1565662Acute Kidney Insufficiency2CTD_human
HgeneAMBPC2609414Acute kidney injury2CTD_human
HgeneAMBPC0007138Carcinoma, Transitional Cell1CTD_human
HgeneAMBPC0013221Drug toxicity1CTD_human
HgeneAMBPC0019193Hepatitis, Toxic1CTD_human
HgeneAMBPC0027626Neoplasm Invasiveness1CTD_human
HgeneAMBPC0041755Adverse reaction to drug1CTD_human
HgeneAMBPC0525045Mood Disorders1CTD_human
HgeneAMBPC0860207Drug-Induced Liver Disease1CTD_human
HgeneAMBPC1262760Hepatitis, Drug-Induced1CTD_human
HgeneAMBPC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneAMBPC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneAMBPC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneAPOA1C0268389Amyloidosis, familial visceral8CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneAPOA1C1704429Hypoalphalipoproteinemia, Familial3GENOMICS_ENGLAND;ORPHANET
TgeneAPOA1C0024623Malignant neoplasm of stomach2CTD_human
TgeneAPOA1C0038356Stomach Neoplasms2CTD_human
TgeneAPOA1C0342898Apolipoprotein A-I deficiency2ORPHANET
TgeneAPOA1C1708349Hereditary Diffuse Gastric Cancer2CTD_human
TgeneAPOA1C0001418Adenocarcinoma1CTD_human
TgeneAPOA1C0003129Anoxemia1CTD_human
TgeneAPOA1C0003130Anoxia1CTD_human
TgeneAPOA1C0004943Behcet Syndrome1CTD_human
TgeneAPOA1C0010054Coronary Arteriosclerosis1CTD_human
TgeneAPOA1C0011609Drug Eruptions1CTD_human
TgeneAPOA1C0013604Edema1CTD_human
TgeneAPOA1C0017665Membranous glomerulonephritis1CTD_human
TgeneAPOA1C0019193Hepatitis, Toxic1CTD_human
TgeneAPOA1C0019693HIV Infections1CTD_human
TgeneAPOA1C0020538Hypertensive disease1CTD_human
TgeneAPOA1C0021368Inflammation1CTD_human
TgeneAPOA1C0024121Lung Neoplasms1CTD_human
TgeneAPOA1C0038454Cerebrovascular accident1CTD_human
TgeneAPOA1C0079221Determination of Death1CTD_human
TgeneAPOA1C0086445Idiopathic Membranous Glomerulonephritis1CTD_human
TgeneAPOA1C0151603Anasarca1CTD_human
TgeneAPOA1C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneAPOA1C0154251Lipid Metabolism Disorders1CTD_human
TgeneAPOA1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneAPOA1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneAPOA1C0205643Carcinoma, Cribriform1CTD_human
TgeneAPOA1C0205644Carcinoma, Granular Cell1CTD_human
TgeneAPOA1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneAPOA1C0242184Hypoxia1CTD_human
TgeneAPOA1C0242379Malignant neoplasm of lung1CTD_human
TgeneAPOA1C0242488Acute Lung Injury1CTD_human
TgeneAPOA1C0345967Malignant mesothelioma1CTD_human
TgeneAPOA1C0376297Cardiac Death1CTD_human
TgeneAPOA1C0406537Morbilliform Drug Reaction1CTD_human
TgeneAPOA1C0700292Hypoxemia1CTD_human
TgeneAPOA1C0751956Acute Cerebrovascular Accidents1CTD_human
TgeneAPOA1C0853897Diabetic Cardiomyopathies1CTD_human
TgeneAPOA1C0860207Drug-Induced Liver Disease1CTD_human
TgeneAPOA1C1262760Hepatitis, Drug-Induced1CTD_human
TgeneAPOA1C1704378Heymann Nephritis1CTD_human
TgeneAPOA1C1848533Ataxia with vitamin E deficiency1CTD_human
TgeneAPOA1C1956346Coronary Artery Disease1CTD_human
TgeneAPOA1C2239176Liver carcinoma1CTD_human
TgeneAPOA1C2362324Pediatric Obesity1CTD_human
TgeneAPOA1C3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneAPOA1C4087498Familial LCAT deficiency1GENOMICS_ENGLAND
TgeneAPOA1C4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneAPOA1C4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneAPOA1C4317171Adolescent Obesity1CTD_human
TgeneAPOA1C4505456HIV Coinfection1CTD_human
TgeneAPOA1C4521075Childhood Overweight1CTD_human
TgeneAPOA1C4553478Infantile Obesity1CTD_human
TgeneAPOA1C4704955Infant Overweight1CTD_human
TgeneAPOA1C4704956Adolescent Overweight1CTD_human