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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 18438

FusionGeneSummary for KDM4A_EGLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM4A_EGLN1
Fusion gene ID: 18438
HgeneTgene
Gene symbol

KDM4A

EGLN1

Gene ID

9682

54583

Gene namelysine demethylase 4Aegl-9 family hypoxia inducible factor 1
SynonymsJHDM3A|JMJD2|JMJD2A|TDRD14AC1orf12|ECYT3|HALAH|HIF-PH2|HIFPH2|HPH-2|HPH2|PHD2|SM20|ZMYND6
Cytomap

1p34.2-p34.1

1q42.2

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 4AjmjC domain-containing histone demethylation protein 3Ajumonji C domain-containing histone demethylase 3Ajumonji domain containing 2jumonji domain containing 2Ajumonji domain-containing protein 2Alysine (K)-specific demegl nine homolog 1HIF-prolyl hydroxylase 2egl nine-like protein 1hypoxia-inducible factor prolyl hydroxylase 2prolyl hydroxylase domain-containing protein 2zinc finger MYND domain-containing protein 6
Modification date2018052320180527
UniProtAcc

O75164

Q9GZT9

Ensembl transtripts involved in fusion geneENST00000372396, ENST00000463151, 
ENST00000366641, ENST00000476717, 
Fusion gene scores* DoF score13 X 12 X 9=14045 X 3 X 3=45
# samples 135
** MAII scorelog2(13/1404*10)=-3.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KDM4A [Title/Abstract] AND EGLN1 [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
HgeneKDM4A

GO:0016577

histone demethylation

16024779

HgeneKDM4A

GO:0045892

negative regulation of transcription, DNA-templated

16024779

HgeneKDM4A

GO:0070544

histone H3-K36 demethylation

21914792

TgeneEGLN1

GO:0001666

response to hypoxia

16956324

TgeneEGLN1

GO:0018401

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

11598268

TgeneEGLN1

GO:0032364

oxygen homeostasis

16956324

TgeneEGLN1

GO:0043433

negative regulation of DNA binding transcription factor activity

16956324

TgeneEGLN1

GO:0071731

response to nitric oxide

21601578


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
TCGALDLUSCTCGA-43-8115-01AKDM4Achr1

44126083

+EGLN1chr1

231509845

-
* 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-frameENST00000372396ENST00000366641KDM4Achr1

44126083

+EGLN1chr1

231509845

-
5CDS-5UTRENST00000372396ENST00000476717KDM4Achr1

44126083

+EGLN1chr1

231509845

-
3UTR-3CDSENST00000463151ENST00000366641KDM4Achr1

44126083

+EGLN1chr1

231509845

-
3UTR-5UTRENST00000463151ENST00000476717KDM4Achr1

44126083

+EGLN1chr1

231509845

-

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FusionProtFeatures for KDM4A_EGLN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM4A

O75164

EGLN1

Q9GZT9

Histone demethylase that specifically demethylates 'Lys-9' and 'Lys-36' residues of histone H3, thereby playing a centralrole in histone code (PubMed:26741168). Does not demethylatehistone H3 'Lys-4', H3 'Lys-27' nor H4 'Lys-20'. Demethylatestrimethylated H3 'Lys-9' and H3 'Lys-36' residue, while it has noactivity on mono- and dimethylated residues. Demethylation of Lysresidue generates formaldehyde and succinate. Participates intranscriptional repression of ASCL2 and E2F-responsive promotersvia the recruitment of histone deacetylases and NCOR1,respectively. {ECO:0000269|PubMed:16024779,ECO:0000269|PubMed:16603238, ECO:0000269|PubMed:26741168}. Isoform 2: Crucial for muscle differentiation, promotestranscriptional activation of the Myog gene by directing theremoval of repressive chromatin marks at its promoter. Lacks theN-terminal demethylase domain. {ECO:0000269|PubMed:21694756}. 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 HIF1B. Hydroxylated HIFs are then targeted forproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Under hypoxic conditions, the hydroxylation reaction isattenuated allowing HIFs to escape degradation resulting in theirtranslocation to the nucleus, heterodimerization with HIF1B, andincreased expression of hypoxy-inducible genes. EGLN1 is the mostimportant isozyme under normoxia and, through regulating thestability of HIF1, involved in various hypoxia-influencedprocesses such as angiogenesis in retinal and cardiacfunctionality. Target proteins are preferentially recognized via aLXXLAP motif. {ECO:0000269|PubMed:11595184,ECO:0000269|PubMed:12181324, ECO:0000269|PubMed:12351678,ECO:0000269|PubMed:15897452, ECO:0000269|PubMed:19339211,ECO:0000269|PubMed:21792862, ECO:0000269|PubMed:25129147}.

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
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+42214_561431065DomainJmjN

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422142_3081431065DomainJmjC
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422897_9541431065DomainNote=Tudor 1
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422955_10111431065DomainNote=Tudor 2
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422709_7671431065Zinc fingerNote=PHD-type 1
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422772_8051431065Zinc fingerC2HC pre-PHD-type
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422828_8851431065Zinc fingerPHD-type 2
TgeneEGLN1chr1:44126083chr1:231509845ENST00000366641-05291_392297427DomainFe2OG dioxygenase
TgeneEGLN1chr1:44126083chr1:231509845ENST00000366641-05241_251297427RegionBeta(2)beta(3) 'finger-like' loop
TgeneEGLN1chr1:44126083chr1:231509845ENST00000366641-056_20297427RegionNote=Required for nuclear export
TgeneEGLN1chr1:44126083chr1:231509845ENST00000366641-0521_58297427Zinc fingerMYND-type


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FusionGeneSequence for KDM4A_EGLN1


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_KDM4A_ENST00000372396_chr1_44126083_+_EGLN1_ENST00000366641_chr1_231509845_-_273aa
MASESETLNPSARIMTFYPTMEEFRNFSRYIAYIESQGAHRAGLAKVVPPKEWKPRASYDDIDDLVIPAPIQQLVTGQSGLFTQYNIQKK
AMTVREFRKIANSDKYCTPRYSEFEELERKYWKNLTFNPPIYGADVNGTLYEKAMVACYPGNGTGYVRHVDNPNGDGRCVTCIYYLNKDW
DAKVSGGILRIFPEGKAQFADIEPKFDRLLFFWSDRRNPHEVQPAYATRYAITVWYFDADERARAKVKYLTGEKGVRVELNKPSDSVGKD


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_KDM4A_ENST00000372396_chr1_44126083_+_EGLN1_ENST00000366641_chr1_231509845_-_819nt
ATGGCTTCTGAGTCTGAAACTCTGAATCCCAGTGCTAGGATAATGACCTTTTATCCAACTATGGAAGAGTTCCGAAACTTCAGTAGATAC
ATTGCCTACATTGAATCCCAAGGAGCTCATCGGGCAGGGCTAGCCAAGGTTGTTCCTCCAAAAGAGTGGAAGCCACGAGCATCCTATGAT
GACATTGATGATTTGGTCATTCCTGCCCCCATTCAACAGCTGGTGACGGGGCAGTCTGGCCTCTTTACTCAGTACAACATACAGAAGAAA
GCCATGACTGTTCGAGAGTTCCGCAAGATAGCCAATAGCGATAAGTACTGTACCCCACGCTATAGTGAGTTTGAAGAGCTCGAGCGGAAA
TACTGGAAAAATCTTACATTCAATCCTCCAATCTATGGTGCAGATGTGAATGGTACCCTCTATGAAAAGGCCATGGTTGCTTGTTATCCG
GGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAGATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGG
GATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCAAAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTG
TTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCATATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGAT
GAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTGTGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_KDM4A_ENST00000372396_chr1_44126083_+_EGLN1_ENST00000366641_chr1_231509845_-_3613nt
GGAGTTTCGGCCTTCGCCTGCTGGAAAAGCAGTAGGATCGGCCAGTGGCGACAGCAGGAGCTGAGCCTAAGCCCTGGCGGGGCTTTGGGC
TGTAGATTCCTGTCTGACTAAAGGGACCTCAAAAAGGAGGGAAAATGGCTTCTGAGTCTGAAACTCTGAATCCCAGTGCTAGGATAATGA
CCTTTTATCCAACTATGGAAGAGTTCCGAAACTTCAGTAGATACATTGCCTACATTGAATCCCAAGGAGCTCATCGGGCAGGGCTAGCCA
AGGTTGTTCCTCCAAAAGAGTGGAAGCCACGAGCATCCTATGATGACATTGATGATTTGGTCATTCCTGCCCCCATTCAACAGCTGGTGA
CGGGGCAGTCTGGCCTCTTTACTCAGTACAACATACAGAAGAAAGCCATGACTGTTCGAGAGTTCCGCAAGATAGCCAATAGCGATAAGT
ACTGTACCCCACGCTATAGTGAGTTTGAAGAGCTCGAGCGGAAATACTGGAAAAATCTTACATTCAATCCTCCAATCTATGGTGCAGATG
TGAATGGTACCCTCTATGAAAAGGCCATGGTTGCTTGTTATCCGGGCAATGGAACGGGTTATGTACGTCATGTTGATAATCCAAATGGAG
ATGGAAGATGTGTGACATGTATATATTATCTTAATAAAGACTGGGATGCCAAGGTAAGTGGAGGTATACTTCGAATTTTTCCAGAAGGCA
AAGCCCAGTTTGCTGACATTGAACCCAAATTTGATAGACTGCTGTTTTTCTGGTCTGACCGTCGCAACCCTCATGAAGTACAACCAGCAT
ATGCTACAAGGTACGCAATAACTGTTTGGTATTTTGATGCAGATGAGAGAGCACGAGCTAAAGTAAAATATCTAACAGGTGAAAAAGGTG
TGAGGGTTGAACTCAATAAACCTTCAGATTCGGTCGGTAAAGACGTCTTCTAGAGCCTTTGATCCAGCAATACCCCACTTCACCTACAAT
ATTGTTAACTATTTGTTAACTTGTGAATACGAATAAATGGGATAAAGAAAAATAGACAACCAGTTCGCATTTTAATAAGGAAACAGAAAC
AACTTTTTGTGTTGCATCAAACAGAAGATTTTGACTGCTGTGACTTTGTACTGCATGATCAACTTCAAATCTGTGATTGCTTACAGGAGG
AAGATAAGCTACTAATTGAAAATGGTTTTTACATCTGGATATGAAATAAGTGCCCTGTGTAGAATTTTTTTCATTCTTATATTTTGCCAG
ATCTGTTATCTAGCTGAGTTCATTTCATCTCTCCCTTTTTTATATCAAGTTTGAATTTGGGATAATTTTTCTATATTAGGTACAATTTAT
CTAAACTGAATTGAGAAAAAATTACAGTATTATTCCTCAAAATAACATCAATCTATTTTTGTAAACCTGTTCATACTATTAAATTTTGCC
CTAAAAGACCTCTTAATAATGATTGTTGCCAGTGACTGATGATTAATTTTATTTTACTTAAAATAAGAAAAGGAGCACTTTAATTACAAC
TGAAAAATCAGATTGTTTTGTAGTCCTTCCTTACACTAATTTGAACTGTTAAAGATTGCTGCTTTTTTTTTGACATTGTCAATAACGAAA
CCTAATTGTAAAACAGTCACCATTTACTACCAATAACTTTTAGTTAATGTTTTACAAGGAAAAAGACACAAGAAGAGTTTAAATTTTTTT
GTTTTGTTTTGTTTTTTTGAGACAGTCTTGCTCTGTTACCCAGGCTGGAGGGGAGTGGTGCATTCTTGGCTCACTGCAACCTCCGCCTCC
CAGGTTCAAGCAATCCTCCCACCTCAGCCTCCCAACTAGCTGGGACTGCAGGCACACACCACCATGCCTGACTAATTTTTGTATGTTTAG
TAGAGACGGGGTTTTGCCATGTTGCCTAGGCTGGGGTTTAAGTTAAATTTTTTAAAAAACTAAAGTGACTGGCACTAAGTGAACTTGAGA
TTATCCTCAGCTTCAAGTTCCTAAGATAAGGGCTTTCTTAAGCTTTCAGGTGTATGTATCCTCTAGATGTAGACAATAATGTCCCATTTC
TAAGTCTTTTCCTTTTGCTTCTCCTTAAATTGATTGTACTTCCAAATTTGCTGTTATGTTTTTTTCCTAATACTGTGATCTATCTGATCT
GCAGACAAGAACCTTGTCTCTGTTGAAGAGCATCAAGGGGAGATTATGTACACATTGAAACTGAAGTGTGGTGTTACTGACGGAATGTGC
AGTAACTCCTCAGATATCTGTTAAGGCATTTCCCAGATGTGATGCCAGCCTTCTTACCTGTACTGAAAGATGCTTAGCTTAGAAAAAAAC
AAAACAGATGCAAAATCAGATAATTTTATTTTGTTTCATGGGTTTTCTTATTTACTTTTTAAACAAGGAAGGAATATTAGAAAATCACAC
AAGGCCTCACATACATGTTATTTAAAGAATGAATTGGGACGGATGTCTTAGACTTCACTTTCCTAGGCTTTTTAGCAAAACCTAAAGGGT
GGTATCCATATTTTGCGTGAATTATGGGTGTAAGACCTTGCCCACTTAGGTTTTCTATCTCTGTCCTTGATCTTCTTTGCCAAAATGTGA
GTATACAGAAATTTTCTGTATATTTCAACTTAAGACATTTTTAGCATCTGTATAGTTTGTATTCAATTTGAGACCTTTTCTATGGGAAGC
TCAGTAATTTTTATTAAAAGATTGCCATTGCTATTCATGTAAAACATGGAAAAAAATTGTGTAGTGAAGCCAACAGTGGACTTAGGATGG
GATTGAATGTTCAGTATAGTGATCTCACTTAGGAGAATTTGCAGGAGAAAGTGATAGTTTATTGTTTTTTCCTCGCCCATATTCAGTTTT
GTTCTACTTCCTCCCCTTCCTTCCAGATGATAACATCACATCTCTACAGTAAGTGCCTCTGCCAGCCCAACCCAGGAGCGCAAGTTGTCT
TTGCCATCTGGTCTATAGTACAGTGCGCGGCGTTAGGCCACAACTCAAAAGCATTATCTTTTTTAGGGTTAGTAGAAATTGTTTTATGTT
GATGGGAGGTTTGTTTGATTGTCAAAATGTACAGCCACAGCCTTTTAATTTGGGAGCCCCTGTTGTCATTCAAATGTGTACCTCTACAGT
TGTAAAAAGTATTAGATTCTACTATCTGTGGGTTGTGCTTGCCAGACAGGTCTTAAATTGTATATTTTTTGGAAAAGTTTATATACTCTC
TTAGGAATCATTGTGAAAAGATCAAGAAATCAGGATGGCCATTTATTTAATATCCATTCATTTCATGTTAGTGGGACTATTAACTTGTCA
CCAAGCAGGACTCTATTTCAAACAAAATTTAAAACTGTTTGTGGCCTATATGTGTTTAATCCTGGTTAAAGATAAAGCTTCATAATGCTG
TTTTTATTCAACACATTAACCAGCTGTAAAACACAGACCTTTATCAAGAGTAGGCAAAGATTTTCAGGATTCATATACAGATAGACTATA
AAGTCATGTAATTTGAAAAGCAGTGTTTCATTATGAAAGAGCTCTCAAGTTGCTTGTAAAGCTAATCTAATTAAAAAGATGTATAAATGT


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FusionGenePPI for KDM4A_EGLN1


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
KDM4ANCOR1, WDR48, KDM4A, KDM4C, HIST1H3A, HDAC1, HDAC3, RB1, AR, WAS, HIST1H4A, RNF8, RNF168, H3F3A, CUL1, FBXL4, MOV10, NXF1, CAPZA1, EPHB2, ZNF131, ZNF414, CCL22, STK11, KDM4B, ABHD5EGLN1POLR2A, ING4, OSR1, HIF1A, EPAS1, HIST1H3A, OS9, SIAH2, EGLN1, EGLN3, SPRY2, SRC, FKBP8, LIMD1, VHL, MAGEA11, MAGEA9, PKM, KRAS, ZNF281, FKBP5, PLD1, RFPL4B, PEX19, SNUPN, CBWD1, CBWD2, MKS1, PLD2, GPLD1, RHOBTB3, PTGES3, FKBP4, HSP90AA1, HSP90AB1, N6AMT2, AKT1, AKT2


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
HgeneKDM4Achr1:44126083chr1:231509845ENST00000372396+422597_6381431065NCOR1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for KDM4A_EGLN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEGLN1Q9GZT9DB01592IronEgl nine homolog 1small moleculeapproved
TgeneEGLN1Q9GZT9DB00126Vitamin CEgl nine homolog 1small moleculeapproved|nutraceutical

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RelatedDiseases for KDM4A_EGLN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneEGLN1C1853286Erythrocytosis, Familial, 32CTD_human;UNIPROT