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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:ALPL-CBLB (FusionGDB2 ID:HG249TG868)

Fusion Gene Summary for ALPL-CBLB

check button Fusion gene summary
Fusion gene informationFusion gene name: ALPL-CBLB
Fusion gene ID: hg249tg868
HgeneTgene
Gene symbol

ALPL

CBLB

Gene ID

249

868

Gene namealkaline phosphatase, biomineralization associatedCbl proto-oncogene B
SynonymsAP-TNAP|APTNAP|HOPS|TNALP|TNAP|TNSALPCbl-b|Nbla00127|RNF56
Cytomap('ALPL')('CBLB')

1p36.12

3q13.11

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 ALPE3 ubiquitin-protein ligase CBL-BCas-Br-M (murine) ecotropic retroviral transforming sequence bCbl proto-oncogene B, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase BRING finger protein 56RING-type E3 ubiquitin transferase
Modification date2020032220200327
UniProtAcc

P05186

.
Ensembl transtripts involved in fusion geneENST00000374829, ENST00000374830, 
ENST00000374832, ENST00000374840, 
ENST00000425315, ENST00000468526, 
ENST00000539907, ENST00000540617, 
Fusion gene scores* DoF score3 X 3 X 3=2713 X 14 X 7=1274
# samples 316
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(16/1274*10)=-2.99322146736894
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointALPL(21844162)-CBLB(105421229), # 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


check button Fusion gene information
* 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


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Fusion Gene ORF analysis for ALPL-CBLB

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

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 ALPL-CBLB


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)


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Fusion Protein Features for ALPL-CBLB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:21844162/:105421229)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P05186

.
FUNCTION: This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi). {ECO:0000269|PubMed:23688511, ECO:0000269|PubMed:25982064}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ALPL-CBLB


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 ALPL-CBLB


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 ALPL-CBLB


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 ALPL-CBLB


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
TgeneC0014072Experimental Autoimmune Encephalomyelitis1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human