Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:AKAP10-KLHL7 (FusionGDB2 ID:HG11216TG55975)

Fusion Gene Summary for AKAP10-KLHL7

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP10-KLHL7
Fusion gene ID: hg11216tg55975
HgeneTgene
Gene symbol

AKAP10

KLHL7

Gene ID

11216

55975

Gene nameA-kinase anchoring protein 10kelch like family member 7
SynonymsAKAP-10|D-AKAP-2|D-AKAP2|PRKA10CISS3|KLHL6|PERCHING|SBBI26
Cytomap('AKAP10')('KLHL7')

17p11.2

7p15.3

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 10, mitochondrialA kinase (PRKA) anchor protein 10A kinase anchor protein 10dual specificity A kinase-anchoring protein 2mitochondrial A kinase PPKA anchor protein 10protein kinase A anchoring protein 10kelch-like protein 7kelch-like 6kelch-like 7kelch/BTB
Modification date2020031320200327
UniProtAcc

O43572

Q8IXQ5

Ensembl transtripts involved in fusion geneENST00000225737, ENST00000395536, 
ENST00000572155, 
Fusion gene scores* DoF score6 X 6 X 4=1445 X 6 X 5=150
# samples 66
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKAP10 [Title/Abstract] AND KLHL7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP10(19843026)-KLHL7(23191686), # samples:1
Anticipated loss of major functional domain due to fusion event.AKAP10-KLHL7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AKAP10-KLHL7 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneKLHL7

GO:0016567

protein ubiquitination

21828050



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
ChimerDB4STADTCGA-BR-8678-01AAKAP10chr17

19843026

-KLHL7chr7

23191686

+


Top

Fusion Gene ORF analysis for AKAP10-KLHL7

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-intronENST00000225737ENST00000322275AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000225737ENST00000410047AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000225737ENST00000479288AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000225737ENST00000545771AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000395536ENST00000322275AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000395536ENST00000410047AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000395536ENST00000479288AKAP10chr17

19843026

-KLHL7chr7

23191686

+
5CDS-intronENST00000395536ENST00000545771AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000322231AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000339077AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000409689AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000539124AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000542558AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000225737ENST00000545443AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000322231AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000339077AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000409689AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000539124AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000542558AKAP10chr17

19843026

-KLHL7chr7

23191686

+
Frame-shiftENST00000395536ENST00000545443AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000322231AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000339077AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000409689AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000539124AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000542558AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-3CDSENST00000572155ENST00000545443AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-intronENST00000572155ENST00000322275AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-intronENST00000572155ENST00000410047AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-intronENST00000572155ENST00000479288AKAP10chr17

19843026

-KLHL7chr7

23191686

+
intron-intronENST00000572155ENST00000545771AKAP10chr17

19843026

-KLHL7chr7

23191686

+

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 AKAP10-KLHL7


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)
AKAP10chr1719843025-KLHL7chr723191685+5.81E-070.9999994
AKAP10chr1719843025-KLHL7chr723191685+5.81E-070.9999994


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%

Top

Fusion Protein Features for AKAP10-KLHL7


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/:19843026/:23191686)
- 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
AKAP10

O43572

KLHL7

Q8IXQ5

FUNCTION: Differentially targeted protein that binds to type I and II regulatory subunits of protein kinase A and anchors them to the mitochondria or the plasma membrane. Although the physiological relevance between PKA and AKAPS with mitochondria is not fully understood, one idea is that BAD, a proapoptotic member, is phosphorylated and inactivated by mitochondria-anchored PKA. It cannot be excluded too that it may facilitate PKA as well as G protein signal transduction, by acting as an adapter for assembling multiprotein complexes. With its RGS domain, it could lead to the interaction to G-alpha proteins, providing a link between the signaling machinery and the downstream kinase (By similarity). {ECO:0000250}.FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination. {ECO:0000269|PubMed:21828050}.

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 AKAP10-KLHL7


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 AKAP10-KLHL7


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 AKAP10-KLHL7


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 AKAP10-KLHL7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKAP10C0005586Bipolar Disorder1PSYGENET
TgeneC2751986RETINITIS PIGMENTOSA 424CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0796232Bohring syndrome1ORPHANET
TgeneC1832409Crisponi syndrome1CTD_human;ORPHANET
TgeneC1848947COLD-INDUCED SWEATING SYNDROME 11CTD_human;ORPHANET
TgeneC4310742CRISPONI/COLD-INDUCED SWEATING SYNDROME 31GENOMICS_ENGLAND;UNIPROT