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Fusion gene ID: 30863 |
FusionGeneSummary for RCC1_PCMT1 |
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Fusion gene information | Fusion gene name: RCC1_PCMT1 | Fusion gene ID: 30863 | Hgene | Tgene | Gene symbol | RCC1 | PCMT1 | Gene ID | 1104 | 5110 |
Gene name | regulator of chromosome condensation 1 | protein-L-isoaspartate (D-aspartate) O-methyltransferase | |
Synonyms | CHC1|RCC1-I|SNHG3-RCC1 | PIMT | |
Cytomap | 1p35.3 | 6q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | regulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing protein | protein-L-isoaspartate(D-aspartate) O-methyltransferaseL-isoaspartyl protein carboxyl methyltransferaseprotein L-isoaspartyl/D-aspartyl methyltransferaseprotein-beta-aspartate methyltransferase | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P18754 | P22061 | |
Ensembl transtripts involved in fusion gene | ENST00000398958, ENST00000373833, ENST00000373832, ENST00000373831, ENST00000429051, | ENST00000367384, ENST00000367378, ENST00000464889, ENST00000367380, ENST00000544496, ENST00000480010, | |
Fusion gene scores | * DoF score | 9 X 6 X 10=540 | 3 X 2 X 3=18 |
# 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(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: RCC1 [Title/Abstract] AND PCMT1 [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 | LD | TGCT | TCGA-2G-AAG0-01A | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
* 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 | ENST00000367384 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000398958 | ENST00000367378 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000398958 | ENST00000464889 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000398958 | ENST00000367380 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000398958 | ENST00000544496 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-intron | ENST00000398958 | ENST00000480010 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000373833 | ENST00000367384 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000373833 | ENST00000367378 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000373833 | ENST00000464889 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000373833 | ENST00000367380 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-3CDS | ENST00000373833 | ENST00000544496 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
5UTR-intron | ENST00000373833 | ENST00000480010 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373832 | ENST00000367384 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373832 | ENST00000367378 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373832 | ENST00000464889 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373832 | ENST00000367380 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373832 | ENST00000544496 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-intron | ENST00000373832 | ENST00000480010 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373831 | ENST00000367384 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373831 | ENST00000367378 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373831 | ENST00000464889 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373831 | ENST00000367380 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000373831 | ENST00000544496 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-intron | ENST00000373831 | ENST00000480010 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000429051 | ENST00000367384 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000429051 | ENST00000367378 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000429051 | ENST00000464889 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000429051 | ENST00000367380 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-3CDS | ENST00000429051 | ENST00000544496 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
intron-intron | ENST00000429051 | ENST00000480010 | RCC1 | chr1 | 28834672 | + | PCMT1 | chr6 | 150111090 | + |
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FusionProtFeatures for RCC1_PCMT1 |
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Hgene | Tgene |
RCC1 | PCMT1 |
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_PCMT1 |
![]() (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_PCMT1 |
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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 | PCMT1 | EIF1B, VHL, CHD3, TERF1, TERF2, POT1, UBC, HDAC5, DYRK2, CUL3, CUL2, CDK2, CUL1, COPS5, CAND1, APOE, ZRANB2, PPIH, TPM4, ATP6V1B2, PSMB7, RAD23A, RRM2, PFDN2, SEC24A, GDI1, SVIL, NOTCH2, UCHL3, SDHAF2, NANS, UBE2C, TP53BP1, VKORC1, FN1, VCAM1, ITGA4, CFTR, LMNA, SH3RF2, AURKA, TP53, HUWE1, AIMP2, RPIA, CUL7, OBSL1, KLHL20, ALDH16A1, TMEM102, DERA, PDPR, DTYMK, RAB3IP, C18orf8, CSNK1E, KLHL24, KLHL42, KBTBD7, KBTBD6, PYCRL, KCTD3, SHKBP1, ABI2, ABI1, KLHL26, YDJC, KLHL18, MAN2C1, RPS6KB2, AKR1B1, LOC101930400, AKR1C2, COX17, CSTB, ENO1, ENO2, ETFA, LDHAL6A, LDHB, MIF, C11orf54, CRIP1, MTAP, SCYL2, SOD1, SPR, TKT, PRDX2, TRAP1, UFC1, YKT6, NTRK1, KLC3, MCM2, PCGF1, DPPA4, BCOR, NANOG, POU5F1, CDH1, DUSP13, COPS7B, PTPDC1, PTPN1, SSH3, DLD, DLST, DNM1L, HSD17B10, TRIM25, BRCA1, HDAC6 |
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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_PCMT1 |
![]() (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_PCMT1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | PCMT1 | C0080178 | Spina Bifida | 1 | CTD_human |