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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:KIAA0100-ALKBH5 (FusionGDB2 ID:41994)

Fusion Gene Summary for KIAA0100-ALKBH5

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0100-ALKBH5
Fusion gene ID: 41994
HgeneTgene
Gene symbol

KIAA0100

ALKBH5

Gene ID

9703

54890

Gene nameKIAA0100alkB homolog 5, RNA demethylase
SynonymsBCOX|BCOX1|CT101|FMP27ABH5|OFOXD|OFOXD1
Cytomap

17q11.2

17p11.2|17p11.2

Type of geneprotein-codingprotein-coding
Descriptionprotein KIAA0100U937-associated antigenantigen MLAA-22breast cancer overexpressed gene 1breast cancer-overexpressed gene 1 proteincancer/testis antigen 101RNA demethylase ALKBH5AlkB family member 5, RNA demethylasealkB, alkylation repair homolog 5alkylated DNA repair protein alkB homolog 5alpha-ketoglutarate-dependent dioxygenase alkB homolog 5oxoglutarate and iron-dependent oxygenase domain containing
Modification date2020032020200322
UniProtAcc

Q14667

Q6P6C2

Ensembl transtripts involved in fusion geneENST00000528896, ENST00000389003, 
ENST00000544884, ENST00000579924, 
ENST00000399138, ENST00000541285, 
Fusion gene scores* DoF score18 X 21 X 10=37808 X 7 X 6=336
# samples 2310
** MAII scorelog2(23/3780*10)=-4.03868046816406
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/336*10)=-1.74846123300404
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0100 [Title/Abstract] AND ALKBH5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA0100(26970628)-ALKBH5(18110129), # 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
TgeneALKBH5

GO:0001666

response to hypoxia

21264265

TgeneALKBH5

GO:0035553

oxidative single-stranded RNA demethylation

23177736|24616105


check buttonFusion gene breakpoints across KIAA0100 (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 ALKBH5 (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
ChimerDB4LUSCTCGA-60-2722-01AKIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
ChimerDB4LUSCTCGA-60-2722KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
ChimerDB4LUSCTCGA-60-2722KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
ChimerDB4LUSCTCGA-60-2722KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
ChimerDB4LUSCTCGA-60-2722KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+


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Fusion Gene ORF analysis for KIAA0100-ALKBH5

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-5UTRENST00000528896ENST00000399138KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5CDS-5UTRENST00000528896ENST00000399138KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5CDS-5UTRENST00000528896ENST00000399138KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5CDS-5UTRENST00000528896ENST00000399138KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
5CDS-5UTRENST00000528896ENST00000541285KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5CDS-5UTRENST00000528896ENST00000541285KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5CDS-5UTRENST00000528896ENST00000541285KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5CDS-5UTRENST00000528896ENST00000541285KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000389003ENST00000399138KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000389003ENST00000399138KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000389003ENST00000399138KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000389003ENST00000399138KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000389003ENST00000541285KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000389003ENST00000541285KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000389003ENST00000541285KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000389003ENST00000541285KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000544884ENST00000399138KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000544884ENST00000399138KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000544884ENST00000399138KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000544884ENST00000399138KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000544884ENST00000541285KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
5UTR-5UTRENST00000544884ENST00000541285KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000544884ENST00000541285KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
5UTR-5UTRENST00000544884ENST00000541285KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
intron-5UTRENST00000579924ENST00000399138KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
intron-5UTRENST00000579924ENST00000399138KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
intron-5UTRENST00000579924ENST00000399138KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
intron-5UTRENST00000579924ENST00000399138KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+
intron-5UTRENST00000579924ENST00000541285KIAA0100chr17

26970628

-ALKBH5chr17

18110129

+
intron-5UTRENST00000579924ENST00000541285KIAA0100chr17

26970627

-ALKBH5chr17

18110128

+
intron-5UTRENST00000579924ENST00000541285KIAA0100chr17

26971075

-ALKBH5chr17

18110128

+
intron-5UTRENST00000579924ENST00000541285KIAA0100chr17

26971076

-ALKBH5chr17

18110129

+

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 KIAA0100-ALKBH5


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)
KIAA0100chr1726970627-ALKBH5chr1718110128+0.144909960.8550901
KIAA0100chr1726970627-ALKBH5chr1718110128+0.144909960.8550901
KIAA0100chr1726971075-ALKBH5chr1718110128+0.0536173880.94638264
KIAA0100chr1726970627-ALKBH5chr1718110128+0.144909960.8550901
KIAA0100chr1726970627-ALKBH5chr1718110128+0.144909960.8550901
KIAA0100chr1726971075-ALKBH5chr1718110128+0.0536173880.94638264

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.
genomic feature of top 1%

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Fusion Protein Features for KIAA0100-ALKBH5


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/:26970628/:18110129)
- 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
KIAA0100

Q14667

ALKBH5

Q6P6C2

FUNCTION: May be involved in membrane trafficking. {ECO:0000250|UniProtKB:K7VLR4}.FUNCTION: Dioxygenase that demethylates RNA by oxidative demethylation: specifically demethylates N(6)-methyladenosine (m6A) RNA, the most prevalent internal modification of messenger RNA (mRNA) in higher eukaryotes (PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Can also demethylate N(6)-methyladenosine in single-stranded DNA (in vitro) (PubMed:24616105). Requires molecular oxygen, alpha-ketoglutarate and iron (PubMed:21264265, PubMed:23177736, PubMed:24489119, PubMed:24616105, PubMed:24778178). Demethylation of m6A mRNA affects mRNA processing and export (PubMed:23177736). Required for the late meiotic and haploid phases of spermatogenesis by mediating m6A demethylation in spermatocytes and round spermatids: m6A demethylation of target transcripts is required for correct splicing and the production of longer 3'-UTR mRNAs in male germ cells (By similarity). {ECO:0000250|UniProtKB:Q3TSG4, ECO:0000269|PubMed:21264265, ECO:0000269|PubMed:23177736, ECO:0000269|PubMed:24489119, ECO:0000269|PubMed:24616105, ECO:0000269|PubMed:24778178}.

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 KIAA0100-ALKBH5


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 KIAA0100-ALKBH5


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 KIAA0100-ALKBH5


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 KIAA0100-ALKBH5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource