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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: 18254

FusionGeneSummary for KCNH1_LPGAT1

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNH1_LPGAT1
Fusion gene ID: 18254
HgeneTgene
Gene symbol

KCNH1

LPGAT1

Gene ID

3756

9926

Gene namepotassium voltage-gated channel subfamily H member 1lysophosphatidylglycerol acyltransferase 1
SynonymsEAG|EAG1|Kv10.1|TMBTS|ZLS1|h-eag|hEAG1FAM34A|FAM34A1|NET8
Cytomap

1q32.2

1q32.3

Type of geneprotein-codingprotein-coding
Descriptionpotassium voltage-gated channel subfamily H member 1EAG channel 1ether-a-go-go potassium channel 1ether-a-go-go, Drosophila, homolog ofpotassium channel, voltage gated eag related subfamily H, member 1potassium voltage-gated channel, subfamily H (eagacyl-CoA:lysophosphatidylglycerol acyltransferase 1family with sequence similarity 34, member A
Modification date2018052320180523
UniProtAcc

O95259

Q92604

Ensembl transtripts involved in fusion geneENST00000271751, ENST00000367007, 
ENST00000366997, ENST00000366996, 
ENST00000488600, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KCNH1 [Title/Abstract] AND LPGAT1 [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
HgeneKCNH1

GO:0071805

potassium ion transmembrane transport

22732247|27005320|27325704


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
TCGARVBRCATCGA-EW-A6SA-01AKCNH1chr1

211192206

-LPGAT1chr1

212002665

-
* 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-5UTRENST00000271751ENST00000366997KCNH1chr1

211192206

-LPGAT1chr1

212002665

-
intron-5UTRENST00000271751ENST00000366996KCNH1chr1

211192206

-LPGAT1chr1

212002665

-
intron-5UTRENST00000271751ENST00000488600KCNH1chr1

211192206

-LPGAT1chr1

212002665

-
5CDS-5UTRENST00000367007ENST00000366997KCNH1chr1

211192206

-LPGAT1chr1

212002665

-
5CDS-5UTRENST00000367007ENST00000366996KCNH1chr1

211192206

-LPGAT1chr1

212002665

-
5CDS-5UTRENST00000367007ENST00000488600KCNH1chr1

211192206

-LPGAT1chr1

212002665

-

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FusionProtFeatures for KCNH1_LPGAT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNH1

O95259

LPGAT1

Q92604

Pore-forming (alpha) subunit of a voltage-gated delayedrectifier potassium channel (PubMed:9738473, PubMed:11943152,PubMed:10880439, PubMed:22732247, PubMed:25556795,PubMed:27325704, PubMed:27005320, PubMed:27618660). Channelproperties are modulated by subunit assembly (PubMed:11943152).Mediates IK(NI) current in myoblasts (PubMed:9738473). Involved inthe regulation of cell proliferation and differentiation, inparticular adipogenic and osteogenic differentiation in bonemarrow-derived mesenchymal stem cells (MSCs) (PubMed:23881642).{ECO:0000269|PubMed:10880439, ECO:0000269|PubMed:11943152,ECO:0000269|PubMed:22732247, ECO:0000269|PubMed:23881642,ECO:0000269|PubMed:25556795, ECO:0000269|PubMed:27005320,ECO:0000269|PubMed:27325704, ECO:0000269|PubMed:27618660,ECO:0000269|PubMed:9738473}. Lysophosphatidylglycerol (LPG) specific acyltransferasethat recognizes various acyl-CoAs and LPGs as substrates butdemonstrates a clear preference for long chain saturated fattyacyl-CoAs and oleoyl-CoA as acyl donors. Prefers oleoyl-LPG overpalmitoyl-LPG as an acyl receptor and oleoyl-CoA over lauroyl-CoAas an acyl donor. {ECO:0000269|PubMed:15485873}.

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 KCNH1_LPGAT1


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 KCNH1_LPGAT1


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
KCNH1KCNB1, KCNC1, KCNF1, CALM1, SDCBP, WDYHV1, FASTKD5LPGAT1UNC93B1, ELAVL1, CLN3, HSPA8, HSPA1L, POTEF, LYPD6, VAPA, RNF41, ATL3, CHST15, TUBA1C, MBOAT1, IZUMO1, ACTBL2, 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 KCNH1_LPGAT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneKCNH1O95259DB00458ImipraminePotassium voltage-gated channel subfamily H member 1small moleculeapproved
HgeneKCNH1O95259DB00637AstemizolePotassium voltage-gated channel subfamily H member 1small moleculeapproved|withdrawn

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RelatedDiseases for KCNH1_LPGAT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNH1C2678486Temple-Baraitser Syndrome2CTD_human;ORPHANET;UNIPROT
HgeneKCNH1C0014544Epilepsy1CTD_human;HPO
HgeneKCNH1C0029463Osteosarcoma1CTD_human
HgeneKCNH1C0036341Schizophrenia1PSYGENET
HgeneKCNH1C0796013Zimmerman Laband syndrome1CTD_human;ORPHANET;UNIPROT
HgeneKCNH1C1458155Mammary Neoplasms1CTD_human
TgeneLPGAT1C0043094Weight Gain1CTD_human