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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PHF8-SLCO1C1 (FusionGDB2 ID:64495)

Fusion Gene Summary for PHF8-SLCO1C1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF8-SLCO1C1
Fusion gene ID: 64495
HgeneTgene
Gene symbol

PHF8

SLCO1C1

Gene ID

23133

53919

Gene namePHD finger protein 8solute carrier organic anion transporter family member 1C1
SynonymsJHDM1F|KDM7B|MRXSSD|ZNF422OATP-F|OATP1|OATP14|OATP1C1|OATPF|OATPRP5|SLC21A14
Cytomap

Xp11.22

12p12.2

Type of geneprotein-codingprotein-coding
Descriptionhistone lysine demethylase PHF8jumonji C domain-containing histone demethylase 1Fsolute carrier organic anion transporter family member 1C1OAT-RP-5OATP-14organic anion transporter Forganic anion transporter polypeptide-related protein 5organic anion transporting polypeptide 14solute carrier family 21 (organic anion transporter),
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000338154, ENST00000357988, 
ENST00000338946, ENST00000322659, 
ENST00000462182, 		ENST00000545604, 
ENST00000540354, ENST00000381552, 
ENST00000266509, ENST00000535609, 
ENST00000545102, 
Fusion gene scores* DoF score8 X 7 X 4=2243 X 6 X 3=54
# samples 84
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/54*10)=-0.432959407276106
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHF8 [Title/Abstract] AND SLCO1C1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHF8(54048692)-SLCO1C1(20870066), # samples:1
Anticipated loss of major functional domain due to fusion event.PHF8-SLCO1C1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PHF8-SLCO1C1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PHF8-SLCO1C1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
PHF8-SLCO1C1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgenePHF8

GO:0033169

histone H3-K9 demethylation

20023638|20208542|20346720|20622853|20622854

HgenePHF8

GO:0035574

histone H4-K20 demethylation

20622853|20622854

HgenePHF8

GO:0045893

positive regulation of transcription, DNA-templated

20622853

HgenePHF8

GO:0045943

positive regulation of transcription by RNA polymerase I

20208542

HgenePHF8

GO:0061188

negative regulation of chromatin silencing at rDNA

20208542

HgenePHF8

GO:0070544

histone H3-K36 demethylation

20208542|20622853

HgenePHF8

GO:0071557

histone H3-K27 demethylation

20622853|20622854

TgeneSLCO1C1

GO:0055085

transmembrane transport

12351693|18566113

TgeneSLCO1C1

GO:0070327

thyroid hormone transport

12351693|18566113


check buttonFusion gene breakpoints across PHF8 (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 SLCO1C1 (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
ChimerDB4HNSCTCGA-CV-5430-01APHF8chrX

54048692

-SLCO1C1chr12

20870066

+


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Fusion Gene ORF analysis for PHF8-SLCO1C1

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-shiftENST00000338154ENST00000545604PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338154ENST00000540354PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338154ENST00000381552PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338154ENST00000266509PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000338154ENST00000535609PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000338154ENST00000545102PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000357988ENST00000545604PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000357988ENST00000540354PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000357988ENST00000381552PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000357988ENST00000266509PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000357988ENST00000535609PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000357988ENST00000545102PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338946ENST00000545604PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338946ENST00000540354PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338946ENST00000381552PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000338946ENST00000266509PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000338946ENST00000535609PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000338946ENST00000545102PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000322659ENST00000545604PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000322659ENST00000540354PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000322659ENST00000381552PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
Frame-shiftENST00000322659ENST00000266509PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000322659ENST00000535609PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
5CDS-intronENST00000322659ENST00000545102PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-3CDSENST00000462182ENST00000545604PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-3CDSENST00000462182ENST00000540354PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-3CDSENST00000462182ENST00000381552PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-3CDSENST00000462182ENST00000266509PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-intronENST00000462182ENST00000535609PHF8chrX

54048692

-SLCO1C1chr12

20870066

+
intron-intronENST00000462182ENST00000545102PHF8chrX

54048692

-SLCO1C1chr12

20870066

+

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

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Fusion Genomic Features for PHF8-SLCO1C1


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)
PHF8chrX54048691-SLCO1C1chr1220870065+1.09E-070.9999999
PHF8chrX54048691-SLCO1C1chr1220870065+1.09E-070.9999999

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.

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Fusion Protein Features for PHF8-SLCO1C1


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
..
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: 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.

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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Fusion Gene Sequence for PHF8-SLCO1C1


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.

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Fusion Gene PPI Analysis for PHF8-SLCO1C1


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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Related Drugs for PHF8-SLCO1C1


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

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Related Diseases for PHF8-SLCO1C1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHF8C1846055Siderius X-linked mental retardation syndrome14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSLCO1C1C0011570Mental Depression1PSYGENET
TgeneSLCO1C1C0011581Depressive disorder1PSYGENET