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:ALPL-EIF4G3 (FusionGDB2 ID:4224)

Fusion Gene Summary for ALPL-EIF4G3

check button Fusion gene summary
Fusion gene informationFusion gene name: ALPL-EIF4G3
Fusion gene ID: 4224
HgeneTgene
Gene symbol

ALPL

EIF4G3

Gene ID

249

8672

Gene namealkaline phosphatase, biomineralization associatedeukaryotic translation initiation factor 4 gamma 3
SynonymsAP-TNAP|APTNAP|HOPS|TNALP|TNAP|TNSALPeIF-4G 3|eIF4G 3|eIF4GII
Cytomap

1p36.12

1p36.12

Type of geneprotein-codingprotein-coding
Descriptionalkaline phosphatase, tissue-nonspecific isozymealkaline phosphatase liver/bone/kidney isozymealkaline phosphatase, liver/bone/kidneyliver/bone/kidney-type alkaline phosphatasetissue non-specific alkaline phosphatasetissue-nonspecific ALPeukaryotic translation initiation factor 4 gamma 3eIF-4-gamma 3eIF-4-gamma II
Modification date2020032220200313
UniProtAcc.

O43432

Ensembl transtripts involved in fusion geneENST00000539907, ENST00000540617, 
ENST00000374840, ENST00000468526, 
ENST00000374832, ENST00000425315, 
ENST00000374830, ENST00000374829, 
ENST00000264211, ENST00000400422, 
ENST00000602326, ENST00000374935, 
ENST00000374937, ENST00000536266, 
ENST00000374933, ENST00000544689, 
ENST00000356916, ENST00000374927, 
ENST00000537738, 
Fusion gene scores* DoF score3 X 3 X 3=2725 X 20 X 9=4500
# samples 330
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(30/4500*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALPL [Title/Abstract] AND EIF4G3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALPL(21889777)-EIF4G3(21154191), # samples:1
Anticipated loss of major functional domain due to fusion event.ALPL-EIF4G3 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ALPL-EIF4G3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ALPL-EIF4G3 seems lost the major protein functional domain in Tgene 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 ALPL (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 EIF4G3 (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
ChimerDB4SARCTCGA-DX-AB2V-01AALPLchr1

21889777

-EIF4G3chr1

21154191

-


Top

Fusion Gene ORF analysis for ALPL-EIF4G3

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-shiftENST00000539907ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000539907ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000539907ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000539907ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000539907ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000539907ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000539907ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000539907ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000539907ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000539907ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000539907ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000540617ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000540617ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000540617ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000540617ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000540617ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000540617ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374840ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374840ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374840ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374840ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374840ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374840ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-3CDSENST00000468526ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-intronENST00000468526ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-intronENST00000468526ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-intronENST00000468526ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-intronENST00000468526ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
3UTR-intronENST00000468526ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000374832ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374832ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374832ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374832ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374832ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000374832ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
Frame-shiftENST00000425315ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000425315ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000425315ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000425315ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000425315ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
5CDS-intronENST00000425315ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374830ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374830ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374830ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374830ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374830ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374830ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000264211ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000400422ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000602326ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000374935ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000374937ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-3CDSENST00000374829ENST00000536266ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374829ENST00000374933ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374829ENST00000544689ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374829ENST00000356916ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374829ENST00000374927ALPLchr1

21889777

-EIF4G3chr1

21154191

-
intron-intronENST00000374829ENST00000537738ALPLchr1

21889777

-EIF4G3chr1

21154191

-

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 ALPL-EIF4G3


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 ALPL-EIF4G3


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
.EIF4G3

O43432

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.FUNCTION: Probable component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. Thought to be a functional homolog of EIF4G1. {ECO:0000269|PubMed:9418880}.

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 ALPL-EIF4G3


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 ALPL-EIF4G3


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 ALPL-EIF4G3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ALPL-EIF4G3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALPLC0268413Adult hypophosphatasia (disorder)33CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALPLC0268412Infantile hypophosphatasia9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALPLC0220743Childhood hypophosphatasia (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALPLC0020630Hypophosphatasia3CTD_human;GENOMICS_ENGLAND
HgeneALPLC0022333Jacksonian Seizure2CTD_human
HgeneALPLC0036572Seizures2CTD_human
HgeneALPLC0149958Complex partial seizures2CTD_human
HgeneALPLC0234533Generalized seizures2CTD_human
HgeneALPLC0234535Clonic Seizures2CTD_human
HgeneALPLC0270824Visual seizure2CTD_human
HgeneALPLC0270844Tonic Seizures2CTD_human
HgeneALPLC0270846Epileptic drop attack2CTD_human
HgeneALPLC0422850Seizures, Somatosensory2CTD_human
HgeneALPLC0422852Seizures, Auditory2CTD_human
HgeneALPLC0422853Olfactory seizure2CTD_human
HgeneALPLC0422854Gustatory seizure2CTD_human
HgeneALPLC0422855Vertiginous seizure2CTD_human
HgeneALPLC0494475Tonic - clonic seizures2CTD_human
HgeneALPLC0751056Non-epileptic convulsion2CTD_human
HgeneALPLC0751110Single Seizure2CTD_human
HgeneALPLC0751123Atonic Absence Seizures2CTD_human
HgeneALPLC0751494Convulsive Seizures2CTD_human
HgeneALPLC0751495Seizures, Focal2CTD_human
HgeneALPLC0751496Seizures, Sensory2CTD_human
HgeneALPLC1840322ODONTOHYPOPHOSPHATASIA (disorder)2ORPHANET
HgeneALPLC2673477Hypophosphatasia, Perinatal Lethal2ORPHANET
HgeneALPLC3495874Nonepileptic Seizures2CTD_human
HgeneALPLC4048158Convulsions2CTD_human
HgeneALPLC4316903Absence Seizures2CTD_human
HgeneALPLC4317109Epileptic Seizures2CTD_human
HgeneALPLC4317123Myoclonic Seizures2CTD_human
HgeneALPLC4505436Generalized Absence Seizures2CTD_human
HgeneALPLC0002382Alveolar Bone Loss1CTD_human
HgeneALPLC0005944Metabolic Bone Disorder1CTD_human
HgeneALPLC0006663Calcinosis1CTD_human
HgeneALPLC0020503Hyperparathyroidism, Secondary1CTD_human
HgeneALPLC0023895Liver diseases1CTD_human
HgeneALPLC0029453Osteopenia1CTD_human
HgeneALPLC0086565Liver Dysfunction1CTD_human
HgeneALPLC0263628Tumoral calcinosis1CTD_human
HgeneALPLC0521174Microcalcification1CTD_human