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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: 12106

FusionGeneSummary for ESRRA_KCNK4

check button Fusion gene summary
Fusion gene informationFusion gene name: ESRRA_KCNK4
Fusion gene ID: 12106
HgeneTgene
Gene symbol

ESRRA

KCNK4

Gene ID

2101

50801

Gene nameestrogen related receptor alphapotassium two pore domain channel subfamily K member 4
SynonymsERR1|ERRa|ERRalpha|ESRL1|NR3B1K2p4.1|TRAAK|TRAAK1
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionsteroid hormone receptor ERR1ERR-alphaestrogen receptor-like 1estrogen-related nuclear receptor alphanuclear receptor subfamily 3 group B member 1potassium channel subfamily K member 4K2P4.1 potassium channelTWIK-related arachidonic acid-stimulated potassium channel proteinpotassium channel, subfamily K, member 4potassium channel, two pore domain subfamily K, member 4two pore K(+) channel KT4.
Modification date2018052720180523
UniProtAcc

P11474

Q9NYG8

Ensembl transtripts involved in fusion geneENST00000406310, ENST00000000442, 
ENST00000405666, 
ENST00000538767, 
ENST00000422670, ENST00000539651, 
ENST00000394525, ENST00000539216, 
Fusion gene scores* DoF score3 X 2 X 3=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: ESRRA [Title/Abstract] AND KCNK4 [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
TgeneKCNK4

GO:0071260

cellular response to mechanical stimulus

22282805

TgeneKCNK4

GO:0071398

cellular response to fatty acid

22282805

TgeneKCNK4

GO:0071805

potassium ion transmembrane transport

22282805


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
TCGARVLIHCTCGA-2Y-A9GZ-01AESRRAchr11

64074976

+KCNK4chr11

64064350

+
* 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
5CDS-5UTRENST00000406310ENST00000538767ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-5UTRENST00000406310ENST00000422670ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000406310ENST00000539651ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000406310ENST00000394525ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000406310ENST00000539216ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-5UTRENST00000000442ENST00000538767ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-5UTRENST00000000442ENST00000422670ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000000442ENST00000539651ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000000442ENST00000394525ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000000442ENST00000539216ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-5UTRENST00000405666ENST00000538767ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-5UTRENST00000405666ENST00000422670ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000405666ENST00000539651ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000405666ENST00000394525ESRRAchr11

64074976

+KCNK4chr11

64064350

+
5CDS-3UTRENST00000405666ENST00000539216ESRRAchr11

64074976

+KCNK4chr11

64064350

+

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FusionProtFeatures for ESRRA_KCNK4


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

P11474

KCNK4

Q9NYG8

Binds to an ERR-alpha response element (ERRE) containinga single consensus half-site, 5'-TNAAGGTCA-3'. Can bind to themedium-chain acyl coenzyme A dehydrogenase (MCAD) response elementNRRE-1 and may act as an important regulator of MCAD promoter.Binds to the C1 region of the lactoferrin gene promoter. Requiresdimerization and the coactivator, PGC-1A, for full activity. TheERRalpha/PGC1alpha complex is a regulator of energy metabolism.Induces the expression of PERM1 in the skeletal muscle.{ECO:0000269|PubMed:12522104, ECO:0000269|PubMed:16150865,ECO:0000269|PubMed:17676930, ECO:0000269|PubMed:18063693,ECO:0000269|PubMed:23836911, ECO:0000269|PubMed:9271417}. Voltage-insensitive potassium channel (PubMed:22282805).Channel opening is triggered by mechanical forces that deform themembrane (PubMed:22282805, PubMed:25471887, PubMed:25500157).Channel opening is triggered by raising the intracellular pH tobasic levels (By similarity). The channel is inactive at 24degrees Celsius (in vitro); raising the temperature to 37 degreesCelsius increases the frequency of channel opening, with a furtherincrease in channel activity when the temperature is raised to 42degrees Celsius (By similarity). Plays a role in the perception ofpain caused by heat (By similarity). Plays a role in the sensoryperception of pain caused by pressure (By similarity).{ECO:0000250|UniProtKB:G3V8V5, ECO:0000250|UniProtKB:O88454,ECO:0000269|PubMed:22282805, ECO:0000269|PubMed:25471887,ECO:0000269|PubMed:25500157}.

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 ESRRA_KCNK4


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 ESRRA_KCNK4


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
ESRRANCOA3, LYST, ESRRG, NRIP1, SP1, PPARGC1A, KAT2B, SIRT1, HDAC8, PARK2, NR0B1, DUT, PROX1, TNNI2, NR0B2, MACF1, TFAP4, WDR36, ZNF606, IPO13, C2CD5, ATXN1, SMARCD3, ESR1, ADH5, FUS, MAP2K5, NXF1, PIAS4, EXOSC6, NSD1, NCOA1, PSMC5, GYPB, TRIM25KCNK4DIDO1, RPL14


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 ESRRA_KCNK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneESRRAP11474DB00255DiethylstilbestrolSteroid hormone receptor ERR1small moleculeapproved|investigational

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RelatedDiseases for ESRRA_KCNK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneESRRAC0011853Diabetes Mellitus, Experimental1CTD_human
HgeneESRRAC0025517Metabolic Diseases1CTD_human
HgeneESRRAC0029463Osteosarcoma1CTD_human
HgeneESRRAC1458155Mammary Neoplasms1CTD_human