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Fusion gene ID: 30862 |
FusionGeneSummary for RCC1_ITGB3BP |
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Fusion gene information | Fusion gene name: RCC1_ITGB3BP | Fusion gene ID: 30862 | Hgene | Tgene | Gene symbol | RCC1 | ITGB3BP | Gene ID | 1104 | 23421 |
Gene name | regulator of chromosome condensation 1 | integrin subunit beta 3 binding protein | |
Synonyms | CHC1|RCC1-I|SNHG3-RCC1 | CENP-R|CENPR|HSU37139|NRIF3|TAP20 | |
Cytomap | 1p35.3 | 1p31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | regulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing protein | centromere protein Rbeta 3 endonexinbeta3-endonexinintegrin beta 3 binding protein (beta3-endonexin)integrin beta-3-binding proteinnuclear receptor-interacting factor 3 | |
Modification date | 20180522 | 20180522 | |
UniProtAcc | P18754 | Q13352 | |
Ensembl transtripts involved in fusion gene | ENST00000398958, ENST00000373833, ENST00000373832, ENST00000373831, ENST00000429051, | ENST00000371092, ENST00000271002, ENST00000283568, ENST00000461681, | |
Fusion gene scores | * DoF score | 9 X 6 X 10=540 | 4 X 2 X 3=24 |
# samples | 11 | 3 | |
** MAII score | log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/24*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RCC1 [Title/Abstract] AND ITGB3BP [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RCC1 | GO:0007052 | mitotic spindle organization | 15014043 |
Hgene | RCC1 | GO:0007088 | regulation of mitotic nuclear division | 15014043 |
Hgene | RCC1 | GO:0051290 | protein heterotetramerization | 11336674 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | CESC | TCGA-LP-A5U2-01A | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000398958 | ENST00000371092 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-3CDS | ENST00000398958 | ENST00000271002 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-3CDS | ENST00000398958 | ENST00000283568 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-5UTR | ENST00000398958 | ENST00000461681 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-3CDS | ENST00000373833 | ENST00000371092 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-3CDS | ENST00000373833 | ENST00000271002 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-3CDS | ENST00000373833 | ENST00000283568 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
5UTR-5UTR | ENST00000373833 | ENST00000461681 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373832 | ENST00000371092 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373832 | ENST00000271002 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373832 | ENST00000283568 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-5UTR | ENST00000373832 | ENST00000461681 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373831 | ENST00000371092 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373831 | ENST00000271002 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000373831 | ENST00000283568 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-5UTR | ENST00000373831 | ENST00000461681 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000429051 | ENST00000371092 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000429051 | ENST00000271002 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-3CDS | ENST00000429051 | ENST00000283568 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
intron-5UTR | ENST00000429051 | ENST00000461681 | RCC1 | chr1 | 28834672 | + | ITGB3BP | chr1 | 63920639 | - |
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FusionProtFeatures for RCC1_ITGB3BP |
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Hgene | Tgene |
RCC1 | ITGB3BP |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RCC1_ITGB3BP |
![]() (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_ITGB3BP |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RCC1 | CSNK1A1, 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, G3BP1 | ITGB3BP | COL4A3BP, ARFIP2, DDX24, RECQL5, THRA, RXRG, ITGB3BP, ITGB3, NFKB1, RELA, CCNA2, RXRA, ITGB5, MTA1, ACTN2, MAPK6, SVIL, CENPO, CENPP, APP, KDM1A, KIFC3, UBR7, PIH1D2, CENPU, CENPQ, ATP5J, FANCD2, FLNB, CENPI, MCM5, COG1, ATP5J2, C2CD5, COBLL1, PKN3, SDF4, PPHLN1, CENPN, UBE2O, CENPK, CENPT, DGCR8, CNBP, MECP2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RCC1_ITGB3BP |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RCC1_ITGB3BP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | ITGB3BP | C0014175 | Endometriosis | 1 | CTD_human |