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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 1342

FusionGeneSummary for AKAP6_EGLN3

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP6_EGLN3
Fusion gene ID: 1342
HgeneTgene
Gene symbol

AKAP6

EGLN3

Gene ID

9472

112399

Gene nameA-kinase anchoring protein 6egl-9 family hypoxia inducible factor 3
SynonymsADAP100|ADAP6|AKAP100|PRKA6|mAKAPHIFP4H3|HIFPH3|PHD3
Cytomap

14q12

14q13.1

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 6A kinase (PRKA) anchor protein 6A-kinase anchor protein 100 kDaAKAP 100AKAP-6protein kinase A anchoring protein 6egl nine homolog 3HIF-PH3HIF-prolyl hydroxylase 3HPH-1HPH-3egl nine-like protein 3 isoformhypoxia-inducible factor prolyl hydroxylase 3prolyl hydroxylase domain-containing protein 3
Modification date2018052320180522
UniProtAcc

Q13023

Q9H6Z9

Ensembl transtripts involved in fusion geneENST00000280979, ENST00000557354, 
ENST00000557272, ENST00000554449, 
ENST00000250457, ENST00000553215, 
ENST00000547327, ENST00000557521, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 3 X 4=48
# samples 54
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AKAP6 [Title/Abstract] AND EGLN3 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneAKAP6

GO:0060306

regulation of membrane repolarization

11299204

HgeneAKAP6

GO:0071320

cellular response to cAMP

11299204

HgeneAKAP6

GO:1901381

positive regulation of potassium ion transmembrane transport

11299204

HgeneAKAP6

GO:1902261

positive regulation of delayed rectifier potassium channel activity

11299204

TgeneEGLN3

GO:0018126

protein hydroxylation

19584355

TgeneEGLN3

GO:0018401

peptidyl-proline hydroxylation to 4-hydroxy-L-proline

11598268


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVGBMTCGA-06-5413-01AAKAP6chr14

32903023

+EGLN3chr14

34400421

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000280979ENST00000250457AKAP6chr14

32903023

+EGLN3chr14

34400421

-
In-frameENST00000280979ENST00000553215AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000280979ENST00000547327AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000280979ENST00000557521AKAP6chr14

32903023

+EGLN3chr14

34400421

-
In-frameENST00000557354ENST00000250457AKAP6chr14

32903023

+EGLN3chr14

34400421

-
In-frameENST00000557354ENST00000553215AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000557354ENST00000547327AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000557354ENST00000557521AKAP6chr14

32903023

+EGLN3chr14

34400421

-
In-frameENST00000557272ENST00000250457AKAP6chr14

32903023

+EGLN3chr14

34400421

-
In-frameENST00000557272ENST00000553215AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000557272ENST00000547327AKAP6chr14

32903023

+EGLN3chr14

34400421

-
5CDS-intronENST00000557272ENST00000557521AKAP6chr14

32903023

+EGLN3chr14

34400421

-
3UTR-3CDSENST00000554449ENST00000250457AKAP6chr14

32903023

+EGLN3chr14

34400421

-
3UTR-3CDSENST00000554449ENST00000553215AKAP6chr14

32903023

+EGLN3chr14

34400421

-
3UTR-intronENST00000554449ENST00000547327AKAP6chr14

32903023

+EGLN3chr14

34400421

-
3UTR-intronENST00000554449ENST00000557521AKAP6chr14

32903023

+EGLN3chr14

34400421

-

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FusionProtFeatures for AKAP6_EGLN3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AKAP6

Q13023

EGLN3

Q9H6Z9

Binds to type II regulatory subunits of protein kinase Aand anchors/targets them to the nuclear membrane or sarcoplasmicreticulum. May act as an adapter for assembling multiproteincomplexes. Cellular oxygen sensor that catalyzes, under normoxicconditions, the post-translational formation of 4-hydroxyprolinein hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates aspecific proline found in each of the oxygen-dependent degradation(ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A.Also hydroxylates HIF2A. Has a preference for the CODD site forboth HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3appears to require prior hydroxylation on the CODD site.Hydroxylated HIFs are then targeted for proteasomal degradationvia the von Hippel-Lindau ubiquitination complex. Under hypoxicconditions, the hydroxylation reaction is attenuated allowing HIFsto escape degradation resulting in their translocation to thenucleus, heterodimerization with HIF1B, and increased expressionof hypoxy-inducible genes. EGLN3 is the most important isozyme inlimiting physiological activation of HIFs (particularly HIF2A) inhypoxia. Also hydroxylates PKM in hypoxia, limiting glycolysis.Under normoxia, hydroxylates and regulates the stability of ADRB2.Regulator of cardiomyocyte and neuronal apoptosis. Incardiomyocytes, inhibits the anti-apoptotic effect of BCL2 bydisrupting the BAX-BCL2 complex. In neurons, has a NGF-inducedproapoptotic effect, probably through regulating CASP3 activity.Also essential for hypoxic regulation of neutrophilicinflammation. Plays a crucial role in DNA damage response (DDR) byhydroxylating TELO2, promoting its interaction with ATR which isrequired for activation of the ATR/CHK1/p53 pathway. Targetproteins are preferentially recognized via a LXXLAP motif.{ECO:0000269|PubMed:11595184, ECO:0000269|PubMed:12181324,ECO:0000269|PubMed:16098468, ECO:0000269|PubMed:19584355,ECO:0000269|PubMed:20849813, ECO:0000269|PubMed:20978507,ECO:0000269|PubMed:21317538, ECO:0000269|PubMed:21483450,ECO:0000269|PubMed:21575608, ECO:0000269|PubMed:21620138,ECO:0000269|PubMed:22797300}.

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
TgeneEGLN3chr14:32903023chr14:34400421ENST00000250457-05116_214119240DomainFe2OG dioxygenase

- In-frame and not-retained protein feature among the 13 regional features.
>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAKAP6chr14:32903023chr14:34400421ENST00000280979+2141560_17011082779Compositional biasNote=Ser-rich
HgeneAKAP6chr14:32903023chr14:34400421ENST00000280979+2142063_20761082779RegionNote=PKA-RII subunit binding domain
HgeneAKAP6chr14:32903023chr14:34400421ENST00000280979+2141036_11501082779RepeatNote=Spectrin 2
HgeneAKAP6chr14:32903023chr14:34400421ENST00000280979+214762_8481082779RepeatNote=Spectrin 1
TgeneEGLN3chr14:32903023chr14:34400421ENST00000250457-0562_73119240RegionBeta(2)beta(3) 'finger-like' loop


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FusionGeneSequence for AKAP6_EGLN3


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD

>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_229aa
MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHTGADWKIVLHLPEIETWLRMTSERVRDLTYS
VQQDSDSKHVDVHLVQLKAMVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEPIFDRLLFFWSD


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC

>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_687nt
ATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATG
ACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACA
GGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCA
GTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGT
TATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACAT
GGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGAT
CGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_2517nt
AGTCTTTCCCATAATGAGCTGCATCATCTGAACTGATGTCACAGCATCATGCAGCAGGTCAAACAAGGCATCTCCTAGTATTGCATCCTA
CAGATGTGCTGTAAACATCAAAAGAAGACGGTGGGATCAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTAGACTTCTCCATGTTAACCA
TGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTG
TGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACT
GGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGG
ATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGTTATGTTCGCC
ACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACATGGTGGGATCC
TGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGATCGTAGGAACC
CACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCCAAAAAGAAAT
TCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCACTGAAGACTGACCGTGCTCTGAAATCTGCTGGCCTTGTTCATTTTAGTAACGGT
TCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATGGCCTCTTCAGTGACAACAATCTCCCTGCTACTTCTTGCATCCTTCACATCCCT
GTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGACTGTGTTGATCTTCAGATACTCTCTTTGCCAGATGAAGTTACTTGCTAACTCCA
GAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTACCTGATAGATTCGGTAATACTATCAAGAGAAGAGCCTAGGAGCACAGCGAGGG
AATGAACCTTACTTGCACTTTATGTATACTTCCTGATTTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGAGGTGGTAGATGCCACAGAG
AGGCATCACGGAAGCCTTAACAGCAGGAAACAGAGAAATTTGTGTCATCTGAACAATTTCCAGATGTTCTTAATCCAGGGCTGTTGGGGT
TTCTGGAGAATTATCACAACCTAATGACATTAATACCTCTAGAAAGGGCTGCTGTCATAGTGAACAATTTATAAGTGTCCCATGGGGCAG
ACACTCCTTTTTTCCCAGTCCTGCAACCTGGATTTTCTGCCTCAGCCCCATTTTGCTGAAAATAATGACTTTCTGAATAAAGATGGCAAC
ACAATTTTTTCTCCATTTTCAGTTCTTACCTGGGAACCTAATTCCCCAGAAGCTAAAAAACTAGACATTAGTTGTTTTGGTTGCTTTGTT
GGAATGGAATTTAAATTTAAATGAAAGGAAAAATATATCCCTGGTAGTTTTGTGTTAACCACTGATAACTGTGGAAAGAGCTAGGTCTAC
TGATATACAATAAACATGTGTGCATCTTGAACAATTTGAGAGGGGAGGTGGAGTTGGAAATGTGGGTGTTCCTGTTTTTTTTTTTTTTTT
TTTTTTAGTTTTCCTTTTTAATGAGCTCACCCTTTAACACAAAAAAAGCAAGGTGATGTATTTTAAAAAAGGAAGTGGAAATAAAAAAAT
CTCAAAGCTATTTGAGTTCTCGTCTGTCCCTAGCAGTCTTTCTTCAGCTCACTTGGCTCTCTAGATCCACTGTGGTTGGCAGTATGACCA
GAATCATGGAATTTGCTAGAACTGTGGAAGCTTCTACTCCTGCAGTAAGCACAGATCGCACTGCCTCAATAACTTGGTATTGAGCACGTA
TTTTGCAAAAGCTACTTTTCCTAGTTTTCAGTATTACTTTCATGTTTTAAAAATCCCTTTAATTTCTTGCTTGAAAATCCCATGAACATT
AAAGAGCCAGAAATATTTTCCTTTGTTATGTACGGATATATATATATATAGTCTTCCAAGATAGAAGTTTACTTTTTCCTCTTCTGGTTT
TGGAAAATTTCCAGATAAGACATGTCACCATTAATTCTCAACGACTGCTCTATTTTGTTGTACGGTAATAGTTATCACCTTCTAAATTAC
TATGTAATTTATTCACTTATTATGTTTATTGTCTTGTATCCTTTCTCTGGAGTGTAAGCACAATGAAGACAGGAATTTTGTATATTTTTA

>In-frame_AKAP6_ENST00000280979_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_1349nt
AGTCTTTCCCATAATGAGCTGCATCATCTGAACTGATGTCACAGCATCATGCAGCAGGTCAAACAAGGCATCTCCTAGTATTGCATCCTA
CAGATGTGCTGTAAACATCAAAAGAAGACGGTGGGATCAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTAGACTTCTCCATGTTAACCA
TGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTG
TGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACT
GGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGG
ATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGTTATGTTCGCC
ACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACATGGTGGGATCC
TGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGATCGTAGGAACC
CACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCCAAAAAGAAAT
TCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCACTGAAGACTGACCGTGCTCTGAAATCTGCTGGCCTTGTTCATTTTAGTAACGGT
TCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATGGCCTCTTCAGTGACAACAATCTCCCTGCTACTTCTTGCATCCTTCACATCCCT
GTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGACTGTGTTGATCTTCAGATACTCTCTTTGCCAGATGAAGTTACTTGCTAACTCCA
GAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTACCTGATAGATTCGGTAATACTATCAAGAGAAGAGCCTAGGAGCACAGCGAGGG
AATGAACCTTACTTGCACTTTATGTATACTTCCTGATTTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGAGGTGGTAGATGCCACAGAG

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_2446nt
CTCCTAGTATTGCATCCTACAGATGTGCTGTAAACATCAAAAGAAGACGGTGGGATCAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTA
GACTTCTCCATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCC
ATCAACATGACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCA
CTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTA
ACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAAT
GGAACAGGTTATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCC
AAGCTACATGGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTC
TGGTCAGATCGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGG
GCAGAAGCCAAAAAGAAATTCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCACTGAAGACTGACCGTGCTCTGAAATCTGCTGGCCT
TGTTCATTTTAGTAACGGTTCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATGGCCTCTTCAGTGACAACAATCTCCCTGCTACTTC
TTGCATCCTTCACATCCCTGTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGACTGTGTTGATCTTCAGATACTCTCTTTGCCAGATG
AAGTTACTTGCTAACTCCAGAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTACCTGATAGATTCGGTAATACTATCAAGAGAAGAG
CCTAGGAGCACAGCGAGGGAATGAACCTTACTTGCACTTTATGTATACTTCCTGATTTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGA
GGTGGTAGATGCCACAGAGAGGCATCACGGAAGCCTTAACAGCAGGAAACAGAGAAATTTGTGTCATCTGAACAATTTCCAGATGTTCTT
AATCCAGGGCTGTTGGGGTTTCTGGAGAATTATCACAACCTAATGACATTAATACCTCTAGAAAGGGCTGCTGTCATAGTGAACAATTTA
TAAGTGTCCCATGGGGCAGACACTCCTTTTTTCCCAGTCCTGCAACCTGGATTTTCTGCCTCAGCCCCATTTTGCTGAAAATAATGACTT
TCTGAATAAAGATGGCAACACAATTTTTTCTCCATTTTCAGTTCTTACCTGGGAACCTAATTCCCCAGAAGCTAAAAAACTAGACATTAG
TTGTTTTGGTTGCTTTGTTGGAATGGAATTTAAATTTAAATGAAAGGAAAAATATATCCCTGGTAGTTTTGTGTTAACCACTGATAACTG
TGGAAAGAGCTAGGTCTACTGATATACAATAAACATGTGTGCATCTTGAACAATTTGAGAGGGGAGGTGGAGTTGGAAATGTGGGTGTTC
CTGTTTTTTTTTTTTTTTTTTTTTTAGTTTTCCTTTTTAATGAGCTCACCCTTTAACACAAAAAAAGCAAGGTGATGTATTTTAAAAAAG
GAAGTGGAAATAAAAAAATCTCAAAGCTATTTGAGTTCTCGTCTGTCCCTAGCAGTCTTTCTTCAGCTCACTTGGCTCTCTAGATCCACT
GTGGTTGGCAGTATGACCAGAATCATGGAATTTGCTAGAACTGTGGAAGCTTCTACTCCTGCAGTAAGCACAGATCGCACTGCCTCAATA
ACTTGGTATTGAGCACGTATTTTGCAAAAGCTACTTTTCCTAGTTTTCAGTATTACTTTCATGTTTTAAAAATCCCTTTAATTTCTTGCT
TGAAAATCCCATGAACATTAAAGAGCCAGAAATATTTTCCTTTGTTATGTACGGATATATATATATATAGTCTTCCAAGATAGAAGTTTA
CTTTTTCCTCTTCTGGTTTTGGAAAATTTCCAGATAAGACATGTCACCATTAATTCTCAACGACTGCTCTATTTTGTTGTACGGTAATAG
TTATCACCTTCTAAATTACTATGTAATTTATTCACTTATTATGTTTATTGTCTTGTATCCTTTCTCTGGAGTGTAAGCACAATGAAGACA
GGAATTTTGTATATTTTTAACCAATGCAACATACTCTCAGCACCTAAAATAGTGCCGGGAACATAGTAAGGGCTCAGTAAATACTTGTTG

>In-frame_AKAP6_ENST00000557354_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_1278nt
CTCCTAGTATTGCATCCTACAGATGTGCTGTAAACATCAAAAGAAGACGGTGGGATCAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTA
GACTTCTCCATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCTGGATCCCATGGCTACTGATGCTTCACCCATGGCC
ATCAACATGACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACATGGACTCTGACCAGCAGTATGAAAAGCCACCCCCA
CTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTGGCTCCGGATGACCTCAGAGAGGGTCCGAGACCTA
ACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCAACTAAAGGCAATGGTGGCTTGCTATCCGGGAAAT
GGAACAGGTTATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCACCTGCATCTACTATCTGAACAAGAATTGGGATGCC
AAGCTACATGGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGATGTGGAGCCCATTTTTGACAGACTCCTGTTCTTC
TGGTCAGATCGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGCTATGACTGTCTGGTACTTTGATGCTGAAGAAAGG
GCAGAAGCCAAAAAGAAATTCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCACTGAAGACTGACCGTGCTCTGAAATCTGCTGGCCT
TGTTCATTTTAGTAACGGTTCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATGGCCTCTTCAGTGACAACAATCTCCCTGCTACTTC
TTGCATCCTTCACATCCCTGTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGACTGTGTTGATCTTCAGATACTCTCTTTGCCAGATG
AAGTTACTTGCTAACTCCAGAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTACCTGATAGATTCGGTAATACTATCAAGAGAAGAG
CCTAGGAGCACAGCGAGGGAATGAACCTTACTTGCACTTTATGTATACTTCCTGATTTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGA
GGTGGTAGATGCCACAGAGAGGCATCACGGAAGCCTTAACAGCAGGAAACAGAGAAATTTGTGTCATCTGAACAATTTCCAGATGTTCTT

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000250457_chr14_34400421_-_2390nt
CAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTAGACTTCTCCATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCT
GGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACAT
GGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTG
GCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCA
ACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGTTATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCAC
CTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACATGGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGA
TGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGATCGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGC
TATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCCAAAAAGAAATTCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCAC
TGAAGACTGACCGTGCTCTGAAATCTGCTGGCCTTGTTCATTTTAGTAACGGTTCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATG
GCCTCTTCAGTGACAACAATCTCCCTGCTACTTCTTGCATCCTTCACATCCCTGTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGAC
TGTGTTGATCTTCAGATACTCTCTTTGCCAGATGAAGTTACTTGCTAACTCCAGAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTA
CCTGATAGATTCGGTAATACTATCAAGAGAAGAGCCTAGGAGCACAGCGAGGGAATGAACCTTACTTGCACTTTATGTATACTTCCTGAT
TTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGAGGTGGTAGATGCCACAGAGAGGCATCACGGAAGCCTTAACAGCAGGAAACAGAGAA
ATTTGTGTCATCTGAACAATTTCCAGATGTTCTTAATCCAGGGCTGTTGGGGTTTCTGGAGAATTATCACAACCTAATGACATTAATACC
TCTAGAAAGGGCTGCTGTCATAGTGAACAATTTATAAGTGTCCCATGGGGCAGACACTCCTTTTTTCCCAGTCCTGCAACCTGGATTTTC
TGCCTCAGCCCCATTTTGCTGAAAATAATGACTTTCTGAATAAAGATGGCAACACAATTTTTTCTCCATTTTCAGTTCTTACCTGGGAAC
CTAATTCCCCAGAAGCTAAAAAACTAGACATTAGTTGTTTTGGTTGCTTTGTTGGAATGGAATTTAAATTTAAATGAAAGGAAAAATATA
TCCCTGGTAGTTTTGTGTTAACCACTGATAACTGTGGAAAGAGCTAGGTCTACTGATATACAATAAACATGTGTGCATCTTGAACAATTT
GAGAGGGGAGGTGGAGTTGGAAATGTGGGTGTTCCTGTTTTTTTTTTTTTTTTTTTTTTAGTTTTCCTTTTTAATGAGCTCACCCTTTAA
CACAAAAAAAGCAAGGTGATGTATTTTAAAAAAGGAAGTGGAAATAAAAAAATCTCAAAGCTATTTGAGTTCTCGTCTGTCCCTAGCAGT
CTTTCTTCAGCTCACTTGGCTCTCTAGATCCACTGTGGTTGGCAGTATGACCAGAATCATGGAATTTGCTAGAACTGTGGAAGCTTCTAC
TCCTGCAGTAAGCACAGATCGCACTGCCTCAATAACTTGGTATTGAGCACGTATTTTGCAAAAGCTACTTTTCCTAGTTTTCAGTATTAC
TTTCATGTTTTAAAAATCCCTTTAATTTCTTGCTTGAAAATCCCATGAACATTAAAGAGCCAGAAATATTTTCCTTTGTTATGTACGGAT
ATATATATATATAGTCTTCCAAGATAGAAGTTTACTTTTTCCTCTTCTGGTTTTGGAAAATTTCCAGATAAGACATGTCACCATTAATTC
TCAACGACTGCTCTATTTTGTTGTACGGTAATAGTTATCACCTTCTAAATTACTATGTAATTTATTCACTTATTATGTTTATTGTCTTGT
ATCCTTTCTCTGGAGTGTAAGCACAATGAAGACAGGAATTTTGTATATTTTTAACCAATGCAACATACTCTCAGCACCTAAAATAGTGCC

>In-frame_AKAP6_ENST00000557272_chr14_32903023_+_EGLN3_ENST00000553215_chr14_34400421_-_1222nt
CAGGAGATGCTGTTTTGGAAAGAAGTGAGGTTTAGACTTCTCCATGTTAACCATGAGCGTGACACTTTCCCCCCTGAGGTCACAGGACCT
GGATCCCATGGCTACTGATGCTTCACCCATGGCCATCAACATGACACCCACTGTGGAGCAGGGTGAGGGAGAAGAGGCAATGAAGGACAT
GGACTCTGACCAGCAGTATGAAAAGCCACCCCCACTACACACAGGGGCTGACTGGAAGATTGTCCTCCACTTACCTGAAATTGAGACCTG
GCTCCGGATGACCTCAGAGAGGGTCCGAGACCTAACCTATTCAGTCCAGCAGGATTCGGACAGCAAGCATGTGGATGTACATCTAGTTCA
ACTAAAGGCAATGGTGGCTTGCTATCCGGGAAATGGAACAGGTTATGTTCGCCACGTGGACAACCCCAACGGTGATGGTCGCTGCATCAC
CTGCATCTACTATCTGAACAAGAATTGGGATGCCAAGCTACATGGTGGGATCCTGCGGATATTTCCAGAGGGGAAATCATTCATAGCAGA
TGTGGAGCCCATTTTTGACAGACTCCTGTTCTTCTGGTCAGATCGTAGGAACCCACACGAAGTGCAGCCCTCTTACGCAACCAGATATGC
TATGACTGTCTGGTACTTTGATGCTGAAGAAAGGGCAGAAGCCAAAAAGAAATTCAGGAATTTAACTAGGAAAACTGAATCTGCCCTCAC
TGAAGACTGACCGTGCTCTGAAATCTGCTGGCCTTGTTCATTTTAGTAACGGTTCCTGAATTCTCTTAAATTCTTTGAGATCCAAAGATG
GCCTCTTCAGTGACAACAATCTCCCTGCTACTTCTTGCATCCTTCACATCCCTGTCTTGTGTGTGGTACTTCATGTTTTCTTGCCAAGAC
TGTGTTGATCTTCAGATACTCTCTTTGCCAGATGAAGTTACTTGCTAACTCCAGAAATTCCTGCAGACATCCTACTCGGCCAGCGGTTTA
CCTGATAGATTCGGTAATACTATCAAGAGAAGAGCCTAGGAGCACAGCGAGGGAATGAACCTTACTTGCACTTTATGTATACTTCCTGAT
TTGAAAGGAGGAGGTTTGAAAAGAAAAAAATGGAGGTGGTAGATGCCACAGAGAGGCATCACGGAAGCCTTAACAGCAGGAAACAGAGAA


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FusionGenePPI for AKAP6_EGLN3


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
AKAP6PRKAR2A, RYR2, PDE4A, PDE4D, CALM1, CDC5L, DISC1, DTNBP1, MYC, CFTREGLN3OS9, HIF1A, SIAH2, EGLN1, EGLN3, EGLN2, PRPF19, ADRB2, SPRY2, LIMD1, AJUBA, WTIP, EPAS1, ATF4, IKBKB, MAGEA11, PKM, IKBKG, CHUK, MAPK1, MAPK6, MAPK7, HEXIM1, SQSTM1, REL, ABI2, NCAPH2, SERTAD1, FOXJ2, EFHC2, TTC23L, BIRC2, BIRC3, RIPK1, EPOR, TRIM25


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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RelatedDrugs for AKAP6_EGLN3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGLN3Q9H6Z9DB00126Vitamin CEgl nine homolog 3small moleculeapproved|nutraceutical

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RelatedDiseases for AKAP6_EGLN3


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