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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: 18496

FusionGeneSummary for KDM5C_EPHA6

check button Fusion gene summary
Fusion gene informationFusion gene name: KDM5C_EPHA6
Fusion gene ID: 18496
HgeneTgene
Gene symbol

KDM5C

EPHA6

Gene ID

8242

285220

Gene namelysine demethylase 5CEPH receptor A6
SynonymsDXS1272E|JARID1C|MRX13|MRXJ|MRXSCJ|MRXSJ|SMCX|XE169EHK-2|EHK2|EK12|EPA6|HEK12|PRO57066
Cytomap

Xp11.22

3q11.2

Type of geneprotein-codingprotein-coding
Descriptionlysine-specific demethylase 5CJmjC domain-containing protein SMCXJumonji, AT rich interactive domain 1C (RBP2-like)Jumonji/ARID domain-containing protein 1CSmcx homolog, X chromosomeSmcy homolog, X-linkedhistone demethylase JARID1Clysine (K)-specifephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6
Modification date2018052320180523
UniProtAcc

P41229

Q9UF33

Ensembl transtripts involved in fusion geneENST00000452825, ENST00000375401, 
ENST00000404049, ENST00000375379, 
ENST00000375383, ENST00000465402, 
ENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
Fusion gene scores* DoF score12 X 12 X 5=7208 X 8 X 4=256
# samples 128
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KDM5C [Title/Abstract] AND EPHA6 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneKDM5C

GO:0034720

histone H3-K4 demethylation

17320160


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
ChiTaRS3.1AW818623KDM5CchrX

53230872

+EPHA6chr3

97285159

-
* 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
intron-intronENST00000452825ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000452825ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000452825ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000452825ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000452825ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000452825ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375401ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000404049ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375379ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000375383ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000470610KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000389672KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000542517KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000514100KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000502694KDM5CchrX

53230872

+EPHA6chr3

97285159

-
intron-intronENST00000465402ENST00000442602KDM5CchrX

53230872

+EPHA6chr3

97285159

-

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FusionProtFeatures for KDM5C_EPHA6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KDM5C

P41229

EPHA6

Q9UF33

Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code(PubMed:28262558). Does not demethylate histone H3 'Lys-9', H3'Lys-27', H3 'Lys-36', H3 'Lys-79' or H4 'Lys-20'. Demethylatestrimethylated and dimethylated but not monomethylated H3 'Lys-4'.Participates in transcriptional repression of neuronal genes byrecruiting histone deacetylases and REST at neuron-restrictivesilencer elements. Represses the CLOCK-ARNTL/BMAL1 heterodimer-mediated transcriptional activation of the core clock componentPER2 (By similarity). {ECO:0000250|UniProtKB:P41230,ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161,ECO:0000269|PubMed:17468742, ECO:0000269|PubMed:26645689,ECO:0000269|PubMed:28262558}. Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling (By similarity). {ECO:0000250}.

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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FusionGeneSequence for KDM5C_EPHA6


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for KDM5C_EPHA6


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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RelatedDrugs for KDM5C_EPHA6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for KDM5C_EPHA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKDM5CC1845243MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE4CTD_human;ORPHANET;UNIPROT
HgeneKDM5CC0004352Autistic Disorder1CTD_human
HgeneKDM5CC0007134Renal Cell Carcinoma1CTD_human
HgeneKDM5CC3714756Intellectual Disability1CTD_human