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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: 30865

FusionGeneSummary for RCC1_PHACTR4

check button Fusion gene summary
Fusion gene informationFusion gene name: RCC1_PHACTR4
Fusion gene ID: 30865
HgeneTgene
Gene symbol

RCC1

PHACTR4

Gene ID

1104

65979

Gene nameregulator of chromosome condensation 1phosphatase and actin regulator 4
SynonymsCHC1|RCC1-I|SNHG3-RCC1PPP1R124
Cytomap

1p35.3

1p35.3

Type of geneprotein-codingprotein-coding
Descriptionregulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing proteinphosphatase and actin regulator 4protein phosphatase 1, regulatory subunit 124
Modification date2018052220180519
UniProtAcc

P18754

Q8IZ21

Ensembl transtripts involved in fusion geneENST00000398958, ENST00000373833, 
ENST00000373832, ENST00000373831, 
ENST00000429051, 
ENST00000373839, 
ENST00000493669, ENST00000373836, 
Fusion gene scores* DoF score9 X 6 X 10=5402 X 2 X 2=8
# samples 112
** MAII scorelog2(11/540*10)=-2.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: RCC1 [Title/Abstract] AND PHACTR4 [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
HgeneRCC1

GO:0007052

mitotic spindle organization

15014043

HgeneRCC1

GO:0007088

regulation of mitotic nuclear division

15014043

HgeneRCC1

GO:0051290

protein heterotetramerization

11336674


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
TCGARVPAADTCGA-F2-6879-01ARCC1chr1

28858862

+PHACTR4chr1

28733921

+
* 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
5CDS-5UTRENST00000398958ENST00000373839RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-3UTRENST00000398958ENST00000493669RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-intronENST00000398958ENST00000373836RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-5UTRENST00000373833ENST00000373839RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-3UTRENST00000373833ENST00000493669RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-intronENST00000373833ENST00000373836RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-5UTRENST00000373832ENST00000373839RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-3UTRENST00000373832ENST00000493669RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-intronENST00000373832ENST00000373836RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-5UTRENST00000373831ENST00000373839RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-3UTRENST00000373831ENST00000493669RCC1chr1

28858862

+PHACTR4chr1

28733921

+
5CDS-intronENST00000373831ENST00000373836RCC1chr1

28858862

+PHACTR4chr1

28733921

+
3UTR-5UTRENST00000429051ENST00000373839RCC1chr1

28858862

+PHACTR4chr1

28733921

+
3UTR-3UTRENST00000429051ENST00000493669RCC1chr1

28858862

+PHACTR4chr1

28733921

+
3UTR-intronENST00000429051ENST00000373836RCC1chr1

28858862

+PHACTR4chr1

28733921

+

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FusionProtFeatures for RCC1_PHACTR4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RCC1

P18754

PHACTR4

Q8IZ21

Guanine-nucleotide releasing factor that promotes theexchange of Ran-bound GDP by GTP, and thereby plays an importantrole in RAN-mediated functions in nuclear import and mitosis(PubMed:1944575, PubMed:17435751, PubMed:20668449,PubMed:22215983, PubMed:11336674). Contributes to the generationof high levels of chromosome-associated, GTP-bound RAN, which isimportant for mitotic spindle assembly and normal progress throughmitosis (PubMed:12194828, PubMed:17435751, PubMed:22215983). Viaits role in maintaining high levels of GTP-bound RAN in thenucleus, contributes to the release of cargo proteins fromimportins after nuclear import (PubMed:22215983). Involved in theregulation of onset of chromosome condensation in the S phase(PubMed:3678831). Binds both to the nucleosomes and double-stranded DNA (PubMed:17435751, PubMed:18762580).{ECO:0000269|PubMed:11336674, ECO:0000269|PubMed:12194828,ECO:0000269|PubMed:17435751, ECO:0000269|PubMed:18762580,ECO:0000269|PubMed:1944575, ECO:0000269|PubMed:20668449,ECO:0000269|PubMed:22215983, ECO:0000269|PubMed:3678831}.

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 RCC1_PHACTR4


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 RCC1_PHACTR4


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
RCC1CSNK1A1, RAN, TAL1, KPNA3, RANBP3, XPO1, H2AFY, KPNA4, KPNB1, NTMT1, HIST1H3A, HIST2H2AC, HIST2H2BE, HIST1H4A, NUDT21, CHGB, SPRED1, USP4, TP53, CSAD, PKM, NGFR, DYNC1I1, PDHB, GNB2, SDF4, RPA1, FLAD1, DDAH2, APLP1, UNC119, HADHB, ZNF135, WIZ, TLE1, KMT2B, TRMT2A, ACTB, CCT7, BAG6, HOXD8, LRIF1, FAF1, TUBB3, CDK2AP2, HDGF, RANBP1, NCSTN, U2AF1, HNRNPM, SF3B6, RBM14, LUC7L3, ACIN1, HNRNPK, FN1, VCAM1, ITGA4, HMGA1, HDAC9, PTMA, ENO1, SHMT2, MOV10, NXF1, CUL7, OBSL1, SUZ12, RNF2, NUSAP1, RGPD3, RGPD8, RANBP2, RGPD5, RANGAP1, NAV1, DIS3, GLYR1, UBE2I, NUP153, NUP107, RBPJ, TEAD2, FOXA1, FOXB1, FOXE1, FOXH1, FOXI2, FOXP1, FOXQ1, OTUB1, PPM1G, DLGAP5, DNM1L, TRIM25, G3BP1PHACTR4CALM1, RAD21, ELAVL1, SH3KBP1, APP, PPP1CC, GRB2, SNRPD3, PPP1CA, RAB9B, NPHP1, SCLT1, TMEM17, LLGL2, UBE2I, TOMM40, CDH1, IFIT2, BCL7A, IFIT3, BCL7C, IFIT1, GAPDHS, 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 RCC1_PHACTR4


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 RCC1_PHACTR4


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