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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:ALAD-ESRP2 (FusionGDB2 ID:HG210TG80004)

Fusion Gene Summary for ALAD-ESRP2

check button Fusion gene summary
Fusion gene informationFusion gene name: ALAD-ESRP2
Fusion gene ID: hg210tg80004
HgeneTgene
Gene symbol

ALAD

ESRP2

Gene ID

210

80004

Gene nameaminolevulinate dehydrataseepithelial splicing regulatory protein 2
SynonymsALADH|PBGSRBM35B
Cytomap('ALAD')('ESRP2')

9q32

16q22.1

Type of geneprotein-codingprotein-coding
Descriptiondelta-aminolevulinic acid dehydrataseaminolevulinate, delta-, dehydrataseporphobilinogen synthasetesticular tissue protein Li 95epithelial splicing regulatory protein 2RNA binding motif protein 35ARNA-binding motif protein 35BRNA-binding protein 35B
Modification date2020032020200320
UniProtAcc

P13716

.
Ensembl transtripts involved in fusion geneENST00000277315, ENST00000409155, 
ENST00000482001, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 1=16
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ALAD [Title/Abstract] AND ESRP2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALAD(116155725)-ESRP2(68266732), # samples:2
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
HgeneALAD

GO:0006783

heme biosynthetic process

11032836

HgeneALAD

GO:1901799

negative regulation of proteasomal protein catabolic process

8175643

TgeneESRP2

GO:0043484

regulation of RNA splicing

19285943



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 ALAD-ESRP2

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 ALAD-ESRP2


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 ALAD-ESRP2


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/:116155725/:68266732)
- 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
ALAD

P13716

.
FUNCTION: Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen. {ECO:0000269|PubMed:11032836, ECO:0000269|PubMed:19812033}.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 ALAD-ESRP2


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 ALAD-ESRP2


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 ALAD-ESRP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALADP13716DB00855Aminolevulinic acidInducerSmall moleculeApproved

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Related Diseases for ALAD-ESRP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALADC0268328Porphobilinogen synthase deficiency7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneALADC0023176Lead Poisoning3CTD_human
HgeneALADC0022658Kidney Diseases2CTD_human
HgeneALADC0162533Porphyrias, Hepatic2CTD_human
HgeneALADC2748608LEAD POISONING, SUSCEPTIBILITY TO2ORPHANET
HgeneALADC0007134Renal Cell Carcinoma1CTD_human
HgeneALADC0018939Hematological Disease1CTD_human
HgeneALADC0020538Hypertensive disease1CTD_human
HgeneALADC0022333Jacksonian Seizure1CTD_human
HgeneALADC0023890Liver Cirrhosis1CTD_human
HgeneALADC0023895Liver diseases1CTD_human
HgeneALADC0025286Meningioma1CTD_human
HgeneALADC0033578Prostatic Neoplasms1CTD_human
HgeneALADC0035222Respiratory Distress Syndrome, Adult1CTD_human
HgeneALADC0036572Seizures1CTD_human
HgeneALADC0086565Liver Dysfunction1CTD_human
HgeneALADC0149958Complex partial seizures1CTD_human
HgeneALADC0205834Meningiomas, Multiple1CTD_human
HgeneALADC0234533Generalized seizures1CTD_human
HgeneALADC0234535Clonic Seizures1CTD_human
HgeneALADC0239946Fibrosis, Liver1CTD_human
HgeneALADC0259785Malignant Meningioma1CTD_human
HgeneALADC0270824Visual seizure1CTD_human
HgeneALADC0270844Tonic Seizures1CTD_human
HgeneALADC0270846Epileptic drop attack1CTD_human
HgeneALADC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneALADC0281784Benign Meningioma1CTD_human
HgeneALADC0334605Meningothelial meningioma1CTD_human
HgeneALADC0334606Fibrous Meningioma1CTD_human
HgeneALADC0334607Psammomatous Meningioma1CTD_human
HgeneALADC0334608Angiomatous Meningioma1CTD_human
HgeneALADC0334609Hemangioblastic Meningioma1CTD_human
HgeneALADC0334610Hemangiopericytic Meningioma1CTD_human
HgeneALADC0334611Transitional Meningioma1CTD_human
HgeneALADC0347515Spinal Meningioma1CTD_human
HgeneALADC0349604Intracranial Meningioma1CTD_human
HgeneALADC0376358Malignant neoplasm of prostate1CTD_human
HgeneALADC0422850Seizures, Somatosensory1CTD_human
HgeneALADC0422852Seizures, Auditory1CTD_human
HgeneALADC0422853Olfactory seizure1CTD_human
HgeneALADC0422854Gustatory seizure1CTD_human
HgeneALADC0422855Vertiginous seizure1CTD_human
HgeneALADC0431121Clear Cell Meningioma1CTD_human
HgeneALADC0457190Xanthomatous Meningioma1CTD_human
HgeneALADC0494475Tonic - clonic seizures1CTD_human
HgeneALADC0751056Non-epileptic convulsion1CTD_human
HgeneALADC0751110Single Seizure1CTD_human
HgeneALADC0751123Atonic Absence Seizures1CTD_human
HgeneALADC0751303Cerebral Convexity Meningioma1CTD_human
HgeneALADC0751304Parasagittal Meningioma1CTD_human
HgeneALADC0751494Convulsive Seizures1CTD_human
HgeneALADC0751495Seizures, Focal1CTD_human
HgeneALADC0751496Seizures, Sensory1CTD_human
HgeneALADC0751859Lead Poisoning, Nervous System1CTD_human
HgeneALADC1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneALADC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneALADC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneALADC1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneALADC1334261Intraorbital Meningioma1CTD_human
HgeneALADC1334271Intraventricular Meningioma1CTD_human
HgeneALADC1335107Olfactory Groove Meningioma1CTD_human
HgeneALADC1384406Secretory meningioma1CTD_human
HgeneALADC1384408Microcystic meningioma1CTD_human
HgeneALADC1527197Angioblastic Meningioma1CTD_human
HgeneALADC1565950Posterior Fossa Meningioma1CTD_human
HgeneALADC1565951Sphenoid Wing Meningioma1CTD_human
HgeneALADC3163622Papillary Meningioma1CTD_human
HgeneALADC3495874Nonepileptic Seizures1CTD_human
HgeneALADC4048158Convulsions1CTD_human
HgeneALADC4316903Absence Seizures1CTD_human
HgeneALADC4317109Epileptic Seizures1CTD_human
HgeneALADC4317123Myoclonic Seizures1CTD_human
HgeneALADC4505436Generalized Absence Seizures1CTD_human
TgeneC0008924Cleft upper lip1GENOMICS_ENGLAND