FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:KDM5A-IP6K2 (FusionGDB2 ID:41851)

Fusion Gene Summary for KDM5A-IP6K2

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM5A-IP6K2
Fusion gene ID: 41851
HgeneTgene
Gene symbol

KDM5A

IP6K2

Gene ID

5927

51447

Gene namelysine demethylase 5Ainositol hexakisphosphate kinase 2
SynonymsRBBP-2|RBBP2|RBP2IHPK2|InsP6K2|PIUS
Cytomap

12p13.33

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 5AJumonji, AT rich interactive domain 1A (RBP2-like)histone demethylase JARID1Ajumonji/ARID domain-containing protein 1Alysine (K)-specific demethylase 5Aretinoblastoma binding protein 2inositol hexakisphosphate kinase 2ATP:1D-myo-inositol-hexakisphosphate phosphotransferaseinositol hexaphosphate kinase 2insp6 kinase 2pi uptake stimulator
Modification date2020031320200327
UniProtAcc

P29375

Q9UHH9

Ensembl transtripts involved in fusion geneENST00000382815, ENST00000399788, 
ENST00000540838, 		ENST00000328631, 
ENST00000340879, ENST00000413298, 
ENST00000417896, ENST00000431721, 
ENST00000432678, ENST00000436134, 
ENST00000443964, ENST00000446860, 
ENST00000449610, ENST00000450045, 
ENST00000453202, 
Fusion gene scores* DoF score11 X 15 X 6=99010 X 8 X 4=320
# samples 1812
** MAII scorelog2(18/990*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/320*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KDM5A [Title/Abstract] AND IP6K2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKDM5A(458889)-IP6K2(48725439), # 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
HgeneKDM5A

GO:0034720

histone H3-K4 demethylation

18270511

HgeneKDM5A

GO:0045893

positive regulation of transcription, DNA-templated

11358960

TgeneIP6K2

GO:0043647

inositol phosphate metabolic process

30624931

TgeneIP6K2

GO:0046854

phosphatidylinositol phosphorylation

10574768


check buttonFusion gene breakpoints across KDM5A (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 IP6K2 (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
ChiTaRS5.0N/ABI492118KDM5Achr12

458889

+IP6K2chr3

48725439

+


Top

Fusion Gene ORF analysis for KDM5A-IP6K2

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-intronENST00000382815ENST00000328631KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000340879KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000413298KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000417896KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000431721KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000432678KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000436134KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000443964KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000446860KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000449610KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000450045KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000382815ENST00000453202KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000328631KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000340879KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000413298KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000417896KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000431721KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000432678KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000436134KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000443964KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000446860KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000449610KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000450045KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000399788ENST00000453202KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000328631KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000340879KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000413298KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000417896KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000431721KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000432678KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000436134KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000443964KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000446860KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000449610KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000450045KDM5Achr12

458889

+IP6K2chr3

48725439

+
intron-intronENST00000540838ENST00000453202KDM5Achr12

458889

+IP6K2chr3

48725439

+

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

Top

Fusion Genomic Features for KDM5A-IP6K2


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.

Top

Fusion Protein Features for KDM5A-IP6K2


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/:458889/:48725439)
- 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
KDM5A

P29375

IP6K2

Q9UHH9

FUNCTION: Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code. Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated and dimethylated but not monomethylated H3 'Lys-4'. Regulates specific gene transcription through DNA-binding on 5'-CCGCCC-3' motif (PubMed:18270511). May stimulate transcription mediated by nuclear receptors. Involved in transcriptional regulation of Hox proteins during cell differentiation (PubMed:19430464). May participate in transcriptional repression of cytokines such as CXCL12. Plays a role in the regulation of the circadian rhythm and in maintaining the normal periodicity of the circadian clock. In a histone demethylase-independent manner, acts as a coactivator of the CLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2 and other clock-controlled genes and increases histone acetylation at PER1/2 promoters by inhibiting the activity of HDAC1 (By similarity). Seems to act as a transcriptional corepressor for some genes such as MT1F and to favor the proliferation of cancer cells (PubMed:27427228). {ECO:0000250|UniProtKB:Q3UXZ9, ECO:0000269|PubMed:11358960, ECO:0000269|PubMed:15949438, ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161, ECO:0000269|PubMed:17320163, ECO:0000269|PubMed:18270511, ECO:0000269|PubMed:19430464, ECO:0000269|PubMed:27427228}.FUNCTION: Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). {ECO:0000269|PubMed:10574768, ECO:0000269|PubMed:30624931}.

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


Top

Fusion Gene Sequence for KDM5A-IP6K2


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.

Top

Fusion Gene PPI Analysis for KDM5A-IP6K2


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


Top

Related Drugs for KDM5A-IP6K2


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

Top

Related Diseases for KDM5A-IP6K2


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