Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:EFHC1-IL17A (FusionGDB2 ID:HG114327TG3605)

Fusion Gene Summary for EFHC1-IL17A

check button Fusion gene summary
Fusion gene informationFusion gene name: EFHC1-IL17A
Fusion gene ID: hg114327tg3605
HgeneTgene
Gene symbol

EFHC1

IL17A

Gene ID

114327

3605

Gene nameEF-hand domain containing 1interleukin 17A
SynonymsEJM1|POC9|RIB72|dJ304B14.2CTLA-8|CTLA8|IL-17|IL-17A|IL17
Cytomap('EFHC1')('IL17A')

6p12.2

6p12.2

Type of geneprotein-codingprotein-coding
DescriptionEF-hand domain-containing protein 1EF-hand domain (C-terminal) containing 1myoclonin-1interleukin-17Acytotoxic T-lymphocyte-associated antigen 8cytotoxic T-lymphocyte-associated protein 8interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)
Modification date2020031320200315
UniProtAcc

Q5JVL4

.
Ensembl transtripts involved in fusion geneENST00000371068, ENST00000433625, 
ENST00000538167, ENST00000491749, 
Fusion gene scores* DoF score6 X 6 X 4=1441 X 1 X 1=1
# samples 61
** MAII scorelog2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: EFHC1 [Title/Abstract] AND IL17A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEFHC1(52344585)-IL17A(52052401), # samples:3
Anticipated loss of major functional domain due to fusion event.EFHC1-IL17A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
* 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
TgeneIL17A

GO:0032747

positive regulation of interleukin-23 production

21145111

TgeneIL17A

GO:0045672

positive regulation of osteoclast differentiation

17888176

TgeneIL17A

GO:0045944

positive regulation of transcription by RNA polymerase II

16982811

TgeneIL17A

GO:0072537

fibroblast activation

21145111



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4UCECTCGA-PG-A915-01AEFHC1chr6

52344585

-IL17Achr6

52052401

+
ChimerDB4UCECTCGA-PG-A915-01AEFHC1chr6

52344585

+IL17Achr6

52052401

+


Top

Fusion Gene ORF analysis for EFHC1-IL17A

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
Frame-shiftENST00000371068ENST00000340057EFHC1chr6

52344585

+IL17Achr6

52052401

+
Frame-shiftENST00000433625ENST00000340057EFHC1chr6

52344585

+IL17Achr6

52052401

+
Frame-shiftENST00000538167ENST00000340057EFHC1chr6

52344585

+IL17Achr6

52052401

+
intron-3CDSENST00000491749ENST00000340057EFHC1chr6

52344585

+IL17Achr6

52052401

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for EFHC1-IL17A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
EFHC1chr652344585+IL17Achr652052400+5.61E-070.9999994
EFHC1chr652344585+IL17Achr652052400+5.61E-070.9999994


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for EFHC1-IL17A


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52344585/:52052401)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EFHC1

Q5JVL4

.
FUNCTION: Microtubule-associated protein which regulates cell division and neuronal migration during cortical development. Necessary for mitotic spindle organization (PubMed:19734894, PubMed:28370826). Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581). {ECO:0000269|PubMed:15258581, ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142, ECO:0000269|PubMed:28370826}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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


Top

Fusion Gene Sequence for EFHC1-IL17A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for EFHC1-IL17A


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


Top

Related Drugs for EFHC1-IL17A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for EFHC1-IL17A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEFHC1C0270853Juvenile Myoclonic Epilepsy10CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneEFHC1C2750892EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 13GENOMICS_ENGLAND;ORPHANET
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0003865Arthritis, Adjuvant-Induced1CTD_human
TgeneC0004364Autoimmune Diseases1CTD_human
TgeneC0007682CNS disorder1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0009319Colitis1CTD_human
TgeneC0011609Drug Eruptions1CTD_human
TgeneC0018133Graft-vs-Host Disease1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0023487Acute Promyelocytic Leukemia1CTD_human
TgeneC0024314Lymphoproliferative Disorders1CTD_human
TgeneC0026769Multiple Sclerosis1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0032285Pneumonia1CTD_human
TgeneC0032300Lobar Pneumonia1CTD_human
TgeneC0034063Pulmonary Edema1CTD_human
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0242488Acute Lung Injury1CTD_human
TgeneC0406537Morbilliform Drug Reaction1CTD_human
TgeneC0549463X-Linked Lymphoproliferative Disorder1CTD_human;GENOMICS_ENGLAND
TgeneC0751324Multiple Sclerosis, Acute Fulminating1CTD_human
TgeneC0887898Experimental Lung Inflammation1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0971858Arthritis, Collagen-Induced1CTD_human
TgeneC0993582Arthritis, Experimental1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC3714636Pneumonitis1CTD_human