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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: 869

FusionGeneSummary for ADD1_PCGF3

check button Fusion gene summary
Fusion gene informationFusion gene name: ADD1_PCGF3
Fusion gene ID: 869
HgeneTgene
Gene symbol

ADD1

PCGF3

Gene ID

118

10336

Gene nameadducin 1polycomb group ring finger 3
SynonymsADDADONG1|RNF3|RNF3A
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionalpha-adducinadducin 1 (alpha)erythrocyte adducin alpha subunitpolycomb group RING finger protein 3RING finger protein 3Aring finger protein 3
Modification date2018052320180523
UniProtAcc

P35611

Q3KNV8

Ensembl transtripts involved in fusion geneENST00000446856, ENST00000264758, 
ENST00000398125, ENST00000513328, 
ENST00000503455, ENST00000355842, 
ENST00000398123, ENST00000398129, 
ENST00000538860, 		ENST00000362003, 
ENST00000400151, ENST00000482726, 
ENST00000470161, ENST00000521023, 
ENST00000505655, 
Fusion gene scores* DoF score11 X 8 X 7=6164 X 4 X 3=48
# samples 134
** MAII scorelog2(13/616*10)=-2.24441872766645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADD1 [Title/Abstract] AND PCGF3 [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
HgeneADD1

GO:0032092

positive regulation of protein binding

3693401|7642559

HgeneADD1

GO:0051016

barbed-end actin filament capping

8626479

HgeneADD1

GO:0051017

actin filament bundle assembly

3693401

HgeneADD1

GO:0071277

cellular response to calcium ion

25978380

HgeneADD1

GO:1903142

positive regulation of establishment of endothelial barrier

25978380

HgeneADD1

GO:1903393

positive regulation of adherens junction organization

25978380


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
TCGARVUCECTCGA-A5-A1OH-01AADD1chr4

2845751

+PCGF3chr4

724419

+
* 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
5UTR-5UTRENST00000446856ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000446856ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-3UTRENST00000446856ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000446856ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000446856ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-intronENST00000446856ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000264758ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000264758ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-3UTRENST00000264758ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000264758ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000264758ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-intronENST00000264758ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000398125ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000398125ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-3UTRENST00000398125ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000398125ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000398125ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-intronENST00000398125ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000513328ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000513328ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-3UTRENST00000513328ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000513328ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000513328ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-intronENST00000513328ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000503455ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000503455ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-3UTRENST00000503455ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000503455ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-5UTRENST00000503455ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
5UTR-intronENST00000503455ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000355842ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000355842ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-3UTRENST00000355842ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000355842ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000355842ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-intronENST00000355842ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398123ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398123ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-3UTRENST00000398123ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398123ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398123ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-intronENST00000398123ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398129ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398129ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-3UTRENST00000398129ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398129ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000398129ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-intronENST00000398129ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000538860ENST00000362003ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000538860ENST00000400151ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-3UTRENST00000538860ENST00000482726ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000538860ENST00000470161ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-5UTRENST00000538860ENST00000521023ADD1chr4

2845751

+PCGF3chr4

724419

+
intron-intronENST00000538860ENST00000505655ADD1chr4

2845751

+PCGF3chr4

724419

+

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FusionProtFeatures for ADD1_PCGF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADD1

P35611

PCGF3

Q3KNV8

Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain thetranscriptionally repressive state of many genes, including Hoxgenes, throughout development. PcG PRC1 complex acts via chromatinremodeling and modification of histones; it mediatesmonoubiquitination of histone H2A 'Lys-119', rendering chromatinheritably changed in its expressibility. Within the PRC1-likecomplex, regulates RNF2 ubiquitin ligase activity(PubMed:26151332). Plays a redundant role with PCGF5 as part of aPRC1-like complex that mediates monoubiquitination of histone H2A'Lys-119' on the X chromosome and is required for normal silencingof one copy of the X chromosome in XX females (By similarity).{ECO:0000250|UniProtKB:Q8BTQ0, ECO:0000269|PubMed:26151332}.

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 ADD1_PCGF3


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 ADD1_PCGF3


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
ADD1HSPH1, CALM1, SPTB, SMARCA4, SMARCC1, SMARCA2, SIN3A, HDAC1, CSNK2B, TK1, MAP1LC3B, GEMIN7, VCP, MMS19, RPA3, RPA2, RPA1, HMG20A, ZDHHC17, FAM78A, DPPA4, ANKRD29, DYNC1I2, NTRK1, IFI16, DYNLT1, XPO1, CAPZA2, MYO1C, IQGAP1, NES, MAPRE1, CDKN2AIP, ATL2, LRWD1, ADD3, DST, HSPG2, SPTAN1, SPTBN1, SVIL, TMOD1, TPM2, TPM3, TPM4, UBIAD1, NUP54, INF2, CDH1, ADD2, GBP2, PDHA1, TRIM25PCGF3RNF2, RING1, RYBP, YAF2, CBX4, MGA, BCORL1, KDM2B, USP7, AUTS2, FBRS, FBRSL1, CSNK2A1, CSNK2A2, CSNK2B, HSP90AA1, CBX8, CBX7, CBX6, BCOR, BMI1, TRIM9, DZIP3, UBE2C, PHC2, PCGF3, UBE2D3, DCAF7, UBE2E3, KIAA0430, HELZ, CREBBP, EIF4ENIF1, ARID3A, SOWAHA, PAN2, NISCH, RB1, 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 ADD1_PCGF3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ADD1_PCGF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADD1C0020538Hypertensive disease2CTD_human
HgeneADD1C2239176Liver carcinoma1CTD_human