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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-ERCC1 (FusionGDB2 ID:HG23133TG2067)

Fusion Gene Summary for PHF8-ERCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF8-ERCC1
Fusion gene ID: hg23133tg2067
HgeneTgene
Gene symbol

PHF8

ERCC1

Gene ID

23133

2067

Gene namePHD finger protein 8ERCC excision repair 1, endonuclease non-catalytic subunit
SynonymsJHDM1F|KDM7B|MRXSSD|ZNF422COFS4|RAD10|UV20
Cytomap('PHF8')('ERCC1')

Xp11.22

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionhistone lysine demethylase PHF8jumonji C domain-containing histone demethylase 1FDNA excision repair protein ERCC-1excision repair cross-complementation group 1excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Modification date2020031320200329
UniProtAcc.

P07992

Ensembl transtripts involved in fusion geneENST00000322659, ENST00000338154, 
ENST00000338946, ENST00000357988, 
ENST00000462182, 
Fusion gene scores* DoF score8 X 7 X 4=22410 X 8 X 5=400
# samples 811
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHF8 [Title/Abstract] AND ERCC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHF8(53963484)-ERCC1(45977060), # 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
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

TgeneERCC1

GO:0006289

nucleotide-excision repair

3290851



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
ChiTaRS5.0N/ABE839795PHF8chrX

53963484

-ERCC1chr19

45977060

-


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Fusion Gene ORF analysis for PHF8-ERCC1

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-intronENST00000322659ENST00000013807PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000300853PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000340192PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000423698PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000588738PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000589165PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000322659ENST00000591636PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000013807PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000300853PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000340192PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000423698PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000588738PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000589165PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338154ENST00000591636PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000013807PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000300853PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000340192PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000423698PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000588738PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000589165PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000338946ENST00000591636PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000013807PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000300853PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000340192PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000423698PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000588738PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000589165PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000357988ENST00000591636PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000013807PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000300853PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000340192PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000423698PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000588738PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000589165PHF8chrX

53963484

-ERCC1chr19

45977060

-
intron-intronENST00000462182ENST00000591636PHF8chrX

53963484

-ERCC1chr19

45977060

-

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-ERCC1


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)


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Fusion Protein Features for PHF8-ERCC1


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/:53963484/:45977060)
- 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
.ERCC1

P07992

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}.FUNCTION: [Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. {ECO:0000269|PubMed:17273966, ECO:0000269|PubMed:23623389, ECO:0000269|PubMed:24036546}.; FUNCTION: [Isoform 2]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 3]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.; FUNCTION: [Isoform 4]: Not functional in the nucleotide excision repair pathway. {ECO:0000305|PubMed:24036546}.

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-ERCC1


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-ERCC1


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-ERCC1


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-ERCC1


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
TgeneC0007131Non-Small Cell Lung Carcinoma2CTD_human
TgeneC0043346Xeroderma Pigmentosum2GENOMICS_ENGLAND
TgeneC1853100CEREBROOCULOFACIOSKELETAL SYNDROME 42CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0001956Alcohol Use Disorder1PSYGENET
TgeneC0004403Autosome Abnormalities1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0008625Chromosome Aberrations1CTD_human
TgeneC0015625Fanconi Anemia1GENOMICS_ENGLAND
TgeneC0024121Lung Neoplasms1CGI;CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0027654Embryonal Neoplasm1CTD_human
TgeneC0027658Neoplasms, Germ Cell and Embryonal1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0039590Testicular Neoplasms1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0153594Malignant neoplasm of testis1CTD_human
TgeneC0205851Germ cell tumor1CTD_human
TgeneC0205852Neoplasms, Embryonal and Mixed1CTD_human
TgeneC0220722Cerebrooculofacioskeletal Syndrome 11ORPHANET
TgeneC0242379Malignant neoplasm of lung1CGI;CTD_human
TgeneC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneC0311375Arsenic Poisoning1CTD_human
TgeneC0740345Germ Cell Cancer1CTD_human
TgeneC0751038Cockayne Syndrome, Type II1ORPHANET
TgeneC0751364Cancer, Embryonal1CTD_human
TgeneC0751365Cancer, Embryonal and Mixed1CTD_human
TgeneC0751851Arsenic Encephalopathy1CTD_human
TgeneC0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1720811Tumor of Rete Testis1CTD_human
TgeneC1859312CAMFAK syndrome1ORPHANET
TgeneC2931277Pena Shokeir syndrome Type 21ORPHANET
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC4048328cervical cancer1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human