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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:ANKRD30BL-MPO (FusionGDB2 ID:4795)

Fusion Gene Summary for ANKRD30BL-MPO

check button Fusion gene summary
Fusion gene informationFusion gene name: ANKRD30BL-MPO
Fusion gene ID: 4795
HgeneTgene
Gene symbol

ANKRD30BL

MPO

Gene ID

554226

4353

Gene nameankyrin repeat domain 30B likemyeloperoxidase
SynonymsANKRD30BP3|NCRNA00164-
Cytomap

2q21.2

17q22

Type of geneprotein-codingprotein-coding
Descriptionputative ankyrin repeat domain-containing protein 30B-likeankyrin repeat domain 30B pseudogene 3myeloperoxidase
Modification date2020031320200329
UniProtAcc

A7E2S9

P05164

Ensembl transtripts involved in fusion geneENST00000470729, ENST00000409867, 
ENST00000340482, ENST00000225275, 
ENST00000578493, 
Fusion gene scores* DoF score3 X 13 X 3=11712 X 18 X 3=648
# samples 712
** MAII scorelog2(7/117*10)=-0.741081702638438
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/648*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANKRD30BL [Title/Abstract] AND MPO [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointANKRD30BL(133012123)-MPO(56350992), # samples:1
ANKRD30BL(133012591)-MPO(56356985), # samples:1
ANKRD30BL(133012592)-MPO(56349213), # samples:1
ANKRD30BL(133012753)-MPO(56355478), # 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
TgeneMPO

GO:0034374

low-density lipoprotein particle remodeling

10772654

TgeneMPO

GO:0042744

hydrogen peroxide catabolic process

10772654|11907569

TgeneMPO

GO:0055114

oxidation-reduction process

10772654


check buttonFusion gene breakpoints across ANKRD30BL (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 MPO (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
ChimerDB4LAMLTCGA-AB-3007-03AANKRD30BLchr2

133012123

-MPOchr17

56350992

-
ChimerDB4LAMLTCGA-AB-3007-03AANKRD30BLchr2

133012591

-MPOchr17

56356985

-
ChimerDB4LAMLTCGA-AB-3007-03AANKRD30BLchr2

133012592

-MPOchr17

56349213

-
ChimerDB4LAMLTCGA-AB-3007-03AANKRD30BLchr2

133012753

-MPOchr17

56355478

-


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Fusion Gene ORF analysis for ANKRD30BL-MPO

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-3CDSENST00000470729ENST00000340482ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-3CDSENST00000470729ENST00000225275ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-intronENST00000470729ENST00000578493ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-3CDSENST00000409867ENST00000340482ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-3CDSENST00000409867ENST00000225275ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-intronENST00000409867ENST00000578493ANKRD30BLchr2

133012123

-MPOchr17

56350992

-
intron-3CDSENST00000470729ENST00000340482ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-3CDSENST00000470729ENST00000225275ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-intronENST00000470729ENST00000578493ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-3CDSENST00000409867ENST00000340482ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-3CDSENST00000409867ENST00000225275ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-intronENST00000409867ENST00000578493ANKRD30BLchr2

133012591

-MPOchr17

56356985

-
intron-3CDSENST00000470729ENST00000340482ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-3CDSENST00000470729ENST00000225275ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-intronENST00000470729ENST00000578493ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-3CDSENST00000409867ENST00000340482ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-3CDSENST00000409867ENST00000225275ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-intronENST00000409867ENST00000578493ANKRD30BLchr2

133012592

-MPOchr17

56349213

-
intron-3CDSENST00000470729ENST00000340482ANKRD30BLchr2

133012753

-MPOchr17

56355478

-
intron-3CDSENST00000470729ENST00000225275ANKRD30BLchr2

133012753

-MPOchr17

56355478

-
intron-3CDSENST00000470729ENST00000578493ANKRD30BLchr2

133012753

-MPOchr17

56355478

-
intron-3CDSENST00000409867ENST00000340482ANKRD30BLchr2

133012753

-MPOchr17

56355478

-
intron-3CDSENST00000409867ENST00000225275ANKRD30BLchr2

133012753

-MPOchr17

56355478

-
intron-3CDSENST00000409867ENST00000578493ANKRD30BLchr2

133012753

-MPOchr17

56355478

-

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 ANKRD30BL-MPO


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.

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Fusion Protein Features for ANKRD30BL-MPO


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
ANKRD30BL

A7E2S9

MPO

P05164

FUNCTION: Part of the host defense system of polymorphonuclear leukocytes. It is responsible for microbicidal activity against a wide range of organisms. In the stimulated PMN, MPO catalyzes the production of hypohalous acids, primarily hypochlorous acid in physiologic situations, and other toxic intermediates that greatly enhance PMN microbicidal activity. {ECO:0000269|PubMed:9922160}.

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 ANKRD30BL-MPO


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 ANKRD30BL-MPO


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 ANKRD30BL-MPO


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMPOP05164DB00244MesalazineSmall moleculeApproved
TgeneMPOP05164DB00535CefdinirInhibitorSmall moleculeApproved
TgeneMPOP05164DB00583LevocarnitineSmall moleculeApproved|Investigational
TgeneMPOP05164DB01065MelatoninInhibitorSmall moleculeApproved|Nutraceutical|Vet_approved
TgeneMPOP05164DB04821NomifensineSmall moleculeApproved|Withdrawn

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Related Diseases for ANKRD30BL-MPO


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMPOC0035126Reperfusion Injury6CTD_human
TgeneMPOC0021368Inflammation5CTD_human
TgeneMPOC0398595Myeloperoxidase Deficiency5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMPOC0009324Ulcerative Colitis3CTD_human
TgeneMPOC0003873Rheumatoid Arthritis2CTD_human
TgeneMPOC0023891Liver Cirrhosis, Alcoholic2CTD_human
TgeneMPOC0001969Alcoholic Intoxication1PSYGENET
TgeneMPOC0002152Alloxan Diabetes1CTD_human
TgeneMPOC0002395Alzheimer's Disease1CTD_human
TgeneMPOC0003129Anoxemia1CTD_human
TgeneMPOC0003130Anoxia1CTD_human
TgeneMPOC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneMPOC0005398Cholestasis, Extrahepatic1CTD_human
TgeneMPOC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneMPOC0005695Bladder Neoplasm1CTD_human
TgeneMPOC0006111Brain Diseases1CTD_human
TgeneMPOC0007222Cardiovascular Diseases1CTD_human
TgeneMPOC0007786Brain Ischemia1CTD_human
TgeneMPOC0009319Colitis1CTD_human
TgeneMPOC0011265Presenile dementia1CTD_human
TgeneMPOC0011574Involutional Depression1CTD_human
TgeneMPOC0011609Drug Eruptions1CTD_human
TgeneMPOC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneMPOC0022593Keratosis1CTD_human
TgeneMPOC0022594Keratosis Blennorrhagica1CTD_human
TgeneMPOC0022658Kidney Diseases1CTD_human
TgeneMPOC0022660Kidney Failure, Acute1CTD_human
TgeneMPOC0024115Lung diseases1CTD_human
TgeneMPOC0024121Lung Neoplasms1CTD_human
TgeneMPOC0028797Occupational Diseases1CTD_human
TgeneMPOC0030305Pancreatitis1CTD_human
TgeneMPOC0032927Precancerous Conditions1CTD_human
TgeneMPOC0033578Prostatic Neoplasms1CTD_human
TgeneMPOC0036982Shock, Hemorrhagic1CTD_human
TgeneMPOC0038433Streptozotocin Diabetes1CTD_human
TgeneMPOC0040954Infection by Trichuris trichiura1CTD_human
TgeneMPOC0042109Urticaria1CTD_human
TgeneMPOC0085584Encephalopathies1CTD_human
TgeneMPOC0086501Keratoma1CTD_human
TgeneMPOC0242184Hypoxia1CTD_human
TgeneMPOC0242379Malignant neoplasm of lung1CTD_human
TgeneMPOC0276496Familial Alzheimer Disease (FAD)1CTD_human
TgeneMPOC0282313Condition, Preneoplastic1CTD_human
TgeneMPOC0376358Malignant neoplasm of prostate1CTD_human
TgeneMPOC0406537Morbilliform Drug Reaction1CTD_human
TgeneMPOC0494463Alzheimer Disease, Late Onset1CTD_human
TgeneMPOC0546126Acute Confusional Senile Dementia1CTD_human
TgeneMPOC0700292Hypoxemia1CTD_human
TgeneMPOC0750900Alzheimer's Disease, Focal Onset1CTD_human
TgeneMPOC0750901Alzheimer Disease, Early Onset1CTD_human
TgeneMPOC0917798Cerebral Ischemia1CTD_human
TgeneMPOC0971858Arthritis, Collagen-Induced1CTD_human
TgeneMPOC0993582Arthritis, Experimental1CTD_human
TgeneMPOC1269683Major Depressive Disorder1CTD_human
TgeneMPOC1565662Acute Kidney Insufficiency1CTD_human
TgeneMPOC1571983Involutional paraphrenia1CTD_human
TgeneMPOC1571984Psychosis, Involutional1CTD_human
TgeneMPOC2239176Liver carcinoma1CTD_human
TgeneMPOC2609414Acute kidney injury1CTD_human