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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:CD302-ALPL (FusionGDB2 ID:HG9936TG249)

Fusion Gene Summary for CD302-ALPL

check button Fusion gene summary
Fusion gene informationFusion gene name: CD302-ALPL
Fusion gene ID: hg9936tg249
HgeneTgene
Gene symbol

CD302

ALPL

Gene ID

9936

249

Gene nameCD302 moleculealkaline phosphatase, biomineralization associated
SynonymsBIMLEC|CLEC13A|DCL-1|DCL1AP-TNAP|APTNAP|HOPS|TNALP|TNAP|TNSALP
Cytomap('CD302')('ALPL')

2q24.2

1p36.12

Type of geneprotein-codingprotein-coding
DescriptionCD302 antigenC-type lectin domain family 13, member ADEC205-associated C-type lectin 1type I transmembrane C-type lectin receptor DCL-1alkaline phosphatase, tissue-nonspecific isozymealkaline phosphatase liver/bone/kidney isozymealkaline phosphatase, liver/bone/kidneyliver/bone/kidney-type alkaline phosphatasetissue non-specific alkaline phosphatasetissue-nonspecific ALP
Modification date2020032020200322
UniProtAcc.

P05186

Ensembl transtripts involved in fusion geneENST00000259053, ENST00000429078, 
ENST00000480212, 
Fusion gene scores* DoF score3 X 2 X 2=123 X 2 X 3=18
# samples 34
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CD302 [Title/Abstract] AND ALPL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCD302(160634449)-ALPL(21880471), # samples:3
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
HgeneCD302

GO:0006909

phagocytosis

17947679



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
ChimerDB4BRCATCGA-AN-A0AT-01ACD302chr2

160634449

-ALPLchr1

21880471

+


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Fusion Gene ORF analysis for CD302-ALPL

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
5CDS-5UTRENST00000259053ENST00000374832CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-5UTRENST00000259053ENST00000374840CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-5UTRENST00000429078ENST00000374832CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-5UTRENST00000429078ENST00000374840CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000374829CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000374830CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000425315CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000468526CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000539907CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000259053ENST00000540617CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000374829CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000374830CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000425315CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000468526CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000539907CD302chr2

160634449

-ALPLchr1

21880471

+
5CDS-intronENST00000429078ENST00000540617CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-5UTRENST00000480212ENST00000374832CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-5UTRENST00000480212ENST00000374840CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000374829CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000374830CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000425315CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000468526CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000539907CD302chr2

160634449

-ALPLchr1

21880471

+
5UTR-intronENST00000480212ENST00000540617CD302chr2

160634449

-ALPLchr1

21880471

+

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 CD302-ALPL


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)
CD302chr2160634448-ALPLchr121880470+2.60E-050.999974
CD302chr2160634448-ALPLchr121880470+2.60E-050.999974


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.
genomic feature of top 1%

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Fusion Protein Features for CD302-ALPL


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/:160634449/:21880471)
- 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: 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}.FUNCTION: This isozyme plays a key role in skeletal mineralization by regulating levels of diphosphate (PPi). {ECO:0000269|PubMed:23688511, ECO:0000269|PubMed:25982064}.

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 CD302-ALPL


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 CD302-ALPL


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 CD302-ALPL


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 CD302-ALPL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0268413Adult hypophosphatasia (disorder)33CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0268412Infantile hypophosphatasia9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0220743Childhood hypophosphatasia (disorder)5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0020630Hypophosphatasia3CTD_human;GENOMICS_ENGLAND
TgeneC0022333Jacksonian Seizure2CTD_human
TgeneC0036572Seizures2CTD_human
TgeneC0149958Complex partial seizures2CTD_human
TgeneC0234533Generalized seizures2CTD_human
TgeneC0234535Clonic Seizures2CTD_human
TgeneC0270824Visual seizure2CTD_human
TgeneC0270844Tonic Seizures2CTD_human
TgeneC0270846Epileptic drop attack2CTD_human
TgeneC0422850Seizures, Somatosensory2CTD_human
TgeneC0422852Seizures, Auditory2CTD_human
TgeneC0422853Olfactory seizure2CTD_human
TgeneC0422854Gustatory seizure2CTD_human
TgeneC0422855Vertiginous seizure2CTD_human
TgeneC0494475Tonic - clonic seizures2CTD_human
TgeneC0751056Non-epileptic convulsion2CTD_human
TgeneC0751110Single Seizure2CTD_human
TgeneC0751123Atonic Absence Seizures2CTD_human
TgeneC0751494Convulsive Seizures2CTD_human
TgeneC0751495Seizures, Focal2CTD_human
TgeneC0751496Seizures, Sensory2CTD_human
TgeneC1840322ODONTOHYPOPHOSPHATASIA (disorder)2ORPHANET
TgeneC2673477Hypophosphatasia, Perinatal Lethal2ORPHANET
TgeneC3495874Nonepileptic Seizures2CTD_human
TgeneC4048158Convulsions2CTD_human
TgeneC4316903Absence Seizures2CTD_human
TgeneC4317109Epileptic Seizures2CTD_human
TgeneC4317123Myoclonic Seizures2CTD_human
TgeneC4505436Generalized Absence Seizures2CTD_human
TgeneC0002382Alveolar Bone Loss1CTD_human
TgeneC0005944Metabolic Bone Disorder1CTD_human
TgeneC0006663Calcinosis1CTD_human
TgeneC0020503Hyperparathyroidism, Secondary1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0029453Osteopenia1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0263628Tumoral calcinosis1CTD_human
TgeneC0521174Microcalcification1CTD_human