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:CYP2C19-HELLS (FusionGDB2 ID:21041)

Fusion Gene Summary for CYP2C19-HELLS

check button Fusion gene summary
Fusion gene informationFusion gene name: CYP2C19-HELLS
Fusion gene ID: 21041
HgeneTgene
Gene symbol

CYP2C19

HELLS

Gene ID

1557

3070

Gene namecytochrome P450 family 2 subfamily C member 19helicase, lymphoid specific
SynonymsCPCJ|CYP2C|CYPIIC17|CYPIIC19|P450C2C|P450IIC19ICF4|LSH|Nbla10143|PASG|SMARCA6
Cytomap

10q23.33

10q23.33

Type of geneprotein-codingprotein-coding
Descriptioncytochrome P450 2C19(R)-limonene 6-monooxygenase(S)-limonene 6-monooxygenase(S)-limonene 7-monooxygenaseS-mephenytoin 4-hydroxylasecytochrome P-450 II Ccytochrome P450, family 2, subfamily C, polypeptide 19cytochrome P450, subfamily IIC (mephenytoilymphoid-specific helicaseSWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6proliferation-associated SNF2-like protein
Modification date2020031320200322
UniProtAcc.

Q9NRZ9

Ensembl transtripts involved in fusion geneENST00000464755, ENST00000371321, 
ENST00000394036, ENST00000394045, 
ENST00000348459, ENST00000371332, 
ENST00000239026, ENST00000394044, 
ENST00000462057, 
Fusion gene scores* DoF score2 X 2 X 1=410 X 8 X 3=240
# samples 211
** MAII scorelog2(2/4*10)=2.32192809488736log2(11/240*10)=-1.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYP2C19 [Title/Abstract] AND HELLS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCYP2C19(96466717)-HELLS(96331145), # samples:1
HELLS(96314005)-CYP2C19(96580253), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneCYP2C19

GO:0016098

monoterpenoid metabolic process

16401082

HgeneCYP2C19

GO:0017144

drug metabolic process

19219744|19651758

HgeneCYP2C19

GO:0042738

exogenous drug catabolic process

19029318

HgeneCYP2C19

GO:0046483

heterocycle metabolic process

19651758

HgeneCYP2C19

GO:0055114

oxidation-reduction process

16401082|19219744


check buttonFusion gene breakpoints across CYP2C19 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HELLS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LIHCTCGA-ZS-A9CF-02ACYP2C19chr10

96466717

+HELLSchr10

96331145

+


Top

Fusion Gene ORF analysis for CYP2C19-HELLS

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
3UTR-3CDSENST00000464755ENST00000394036CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-3CDSENST00000464755ENST00000394045CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-3CDSENST00000464755ENST00000348459CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-3CDSENST00000464755ENST00000371332CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-3UTRENST00000464755ENST00000239026CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-3UTRENST00000464755ENST00000394044CYP2C19chr10

96466717

+HELLSchr10

96331145

+
3UTR-intronENST00000464755ENST00000462057CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3CDSENST00000371321ENST00000394036CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3CDSENST00000371321ENST00000394045CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3CDSENST00000371321ENST00000348459CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3CDSENST00000371321ENST00000371332CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3UTRENST00000371321ENST00000239026CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-3UTRENST00000371321ENST00000394044CYP2C19chr10

96466717

+HELLSchr10

96331145

+
intron-intronENST00000371321ENST00000462057CYP2C19chr10

96466717

+HELLSchr10

96331145

+

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 CYP2C19-HELLS


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)
CYP2C19chr1096466717+HELLSchr1096331144+1.88E-081
CYP2C19chr1096466717+HELLSchr1096331144+1.88E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

Top

Fusion Protein Features for CYP2C19-HELLS


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q9NRZ9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Plays an essential role in normal development and survival. Involved in regulation of the expansion or survival of lymphoid cells. Required for de novo or maintenance DNA methylation. May control silencing of the imprinted CDKN1C gene through DNA methylation. May play a role in formation and organization of heterochromatin, implying a functional role in the regulation of transcription and mitosis (By similarity). {ECO:0000250|UniProtKB:Q60848}.

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 CYP2C19-HELLS


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 CYP2C19-HELLS


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 CYP2C19-HELLS


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 CYP2C19-HELLS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCYP2C19C0041696Unipolar Depression5PSYGENET
HgeneCYP2C19C1269683Major Depressive Disorder5PSYGENET
HgeneCYP2C19C0011570Mental Depression4PSYGENET
HgeneCYP2C19C0011581Depressive disorder4PSYGENET
HgeneCYP2C19C0019193Hepatitis, Toxic2CTD_human
HgeneCYP2C19C0860207Drug-Induced Liver Disease2CTD_human
HgeneCYP2C19C1262760Hepatitis, Drug-Induced2CTD_human
HgeneCYP2C19C3658290Drug-Induced Acute Liver Injury2CTD_human
HgeneCYP2C19C4277682Chemical and Drug Induced Liver Injury2CTD_human
HgeneCYP2C19C4279912Chemically-Induced Liver Toxicity2CTD_human
HgeneCYP2C19C0004238Atrial Fibrillation1CTD_human
HgeneCYP2C19C0007222Cardiovascular Diseases1CTD_human
HgeneCYP2C19C0022660Kidney Failure, Acute1CTD_human
HgeneCYP2C19C0022661Kidney Failure, Chronic1CTD_human
HgeneCYP2C19C0033578Prostatic Neoplasms1CTD_human
HgeneCYP2C19C0040053Thrombosis1CTD_human
HgeneCYP2C19C0085215Ovarian Failure, Premature1CTD_human
HgeneCYP2C19C0086367Gonadotropin-Resistant Ovary Syndrome1CTD_human
HgeneCYP2C19C0087086Thrombus1CTD_human
HgeneCYP2C19C0235480Paroxysmal atrial fibrillation1CTD_human
HgeneCYP2C19C0376358Malignant neoplasm of prostate1CTD_human
HgeneCYP2C19C1565662Acute Kidney Insufficiency1CTD_human
HgeneCYP2C19C2585653Persistent atrial fibrillation1CTD_human
HgeneCYP2C19C2609414Acute kidney injury1CTD_human
HgeneCYP2C19C3468561familial atrial fibrillation1CTD_human
HgeneCYP2C19C3494522Hypergonadotropic Ovarian Failure, X-Linked1CTD_human
HgeneCYP2C19C4552079Premature Ovarian Failure 11CTD_human
TgeneHELLSC4310798IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 42CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneHELLSC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneHELLSC0032460Polycystic Ovary Syndrome1CTD_human
TgeneHELLSC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneHELLSC0398788Immunodeficiency syndrome, variable1GENOMICS_ENGLAND
TgeneHELLSC1136382Sclerocystic Ovaries1CTD_human