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Fusion gene ID: 41452 |
FusionGeneSummary for VHL_KIAA1430 |
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Fusion gene information | Fusion gene name: VHL_KIAA1430 | Fusion gene ID: 41452 | Hgene | Tgene | Gene symbol | VHL | KIAA1430 | Gene ID | 7428 | 57587 |
Gene name | von Hippel-Lindau tumor suppressor | cilia and flagella associated protein 97 | |
Synonyms | HRCA1|RCA1|VHL1|pVHL | KIAA1430|hmw | |
Cytomap | 3p25.3 | 4q35.1 | |
Type of gene | protein-coding | protein-coding | |
Description | von Hippel-Lindau disease tumor suppressorelongin binding proteinprotein G7von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase | cilia- and flagella-associated protein 97 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P40337 | ||
Ensembl transtripts involved in fusion gene | ENST00000256474, ENST00000345392, ENST00000477538, | ENST00000458385, ENST00000514798, ENST00000296775, ENST00000502992, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 3 X 2 X 3=18 |
# samples | 4 | 3 | |
** MAII score | log2(4/18*10)=1.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). 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: VHL [Title/Abstract] AND KIAA1430 [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 | VHL | GO:0016567 | protein ubiquitination | 24899725 |
Hgene | VHL | GO:0061428 | negative regulation of transcription from RNA polymerase II promoter in response to hypoxia | 11641274 |
![]() (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 | KIRC | TCGA-CZ-5468-01A | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
* 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 |
5CDS-intron | ENST00000256474 | ENST00000458385 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
5CDS-intron | ENST00000256474 | ENST00000514798 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
5CDS-intron | ENST00000256474 | ENST00000296775 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
5CDS-intron | ENST00000256474 | ENST00000502992 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
intron-intron | ENST00000345392 | ENST00000458385 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
intron-intron | ENST00000345392 | ENST00000514798 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
intron-intron | ENST00000345392 | ENST00000296775 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
intron-intron | ENST00000345392 | ENST00000502992 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
3UTR-intron | ENST00000477538 | ENST00000458385 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
3UTR-intron | ENST00000477538 | ENST00000514798 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
3UTR-intron | ENST00000477538 | ENST00000296775 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
3UTR-intron | ENST00000477538 | ENST00000502992 | VHL | chr3 | 10188320 | + | KIAA1430 | chr4 | 186128945 | - |
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FusionProtFeatures for VHL_KIAA1430 |
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Hgene | Tgene |
VHL | KIAA1430 |
Involved in the ubiquitination and subsequentproteasomal degradation via the von Hippel-Lindau ubiquitinationcomplex. Seems to act as a target recruitment subunit in the E3ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions. Involved intranscriptional repression through interaction with HIF1A, HIF1ANand histone deacetylases. Ubiquitinates, in an oxygen-responsivemanner, ADRB2. {ECO:0000269|PubMed:10944113,ECO:0000269|PubMed:17981124, ECO:0000269|PubMed:19584355}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 VHL_KIAA1430 |
![]() (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 VHL_KIAA1430 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
VHL | FLNA, VBP1, JADE1, CUL2, CAB39, TGFB1I1, STK16, PFAS, TCEB1, PSMB1, TCEB2, RHOC, CNTF, TXN, APRT, CDK2, PKD1L3, FSCN1, IARS, PSMB3, RASGRP1, RAB1B, RBX1, NEDD8, TAGLN2, MOB4, CCDC59, JMJD1C, CDO1, PAPSS2, HIST1H2BC, CCDC82, PSMD13, TARS, TPT1, RPA3, KNTC1, MCC, PCMT1, CSTB, CSTF3, HAS1, RPS9, IMPDH2, ATXN2, CHMP2B, MYL12A, PPIB, PIN1, PSMC3, HIF1A, ZNF197, TRIM28, HIF1AN, HDAC1, HDAC2, HDAC3, FN1, CUL5, HNRNPA2B1, USP33, RIT1, NR4A1, POLR2A, SAP130, EPAS1, OSR1, DGKZ, SAT2, CYBA, DNAJA3, IREB2, TP53, EP300, KAT2B, ATM, USP20, TCEB3, POLR2G, HIF3A, CCT3, MCM7, PRKCI, DVL2, MYBBP1A, UBXN7, ADRB2, SPRY2, ANKRD40, CDKN2A, STUB1, CMC2, DDX17, DDX3X, DDX3Y, DDX5, DNAJA1, DNAJA2, EPHA4, GRWD1, COLGALT1, HNRNPDL, HNRNPH1, HNRNPH2, HNRNPLL, HNRNPC, HNRNPD, HNRNPL, HNRNPM, HNRNPR, EIF5A, EIF5A2, NKRF, RALYL, RBBP4, RBBP7, RPL12, RPL14, RPL18A, HNRNPA3, RPS11, RPS14, RPS17, RPS27L, RPS27, RPS2, RPS3A, RPS3, RPSA, SNRNP70, TUBA1A, TUBA3C, TUBA3E, TUBA4A, TCP1, CCT2, CCT4, CCT5, CCT7, CCT8, CCT6A, TRAFD1, UBR5, PRMT3, ACTB, BSG, COL4A1, COL4A2, COL4A3, COL4A5, COL4A6, COL6A1, CRTAP, FASTKD3, GRN, HNRNPK, HNRNPU, HSPA8, MIF, IVNS1ABP, P3H1, PARP1, PLOD2, PLOD3, PPM1B, RPL10A, RPL30, RPL7A, RPLP0, HNRNPA1, HNRNPAB, RPS15A, RPS5, STK38, TUBA3D, TUBB4B, VHL, XRCC5, SKP2, CLU, ELAVL1, MYC, PIAS4, TOP2A, CBX5, BCL2L11, CSNK2A1, PRKCD, JAK2, SOCS1, SOCS3, LIMD1, EGLN1, AJUBA, WTIP, LPP, ZYX, COPS5, GNB2L1, PRKCH, PRKCZ, DGKI, KIF2C, SARNP, CAPN7, YY1AP1, RBPMS2, RB1CC1, FKBP8, PTPN14, EXOSC8, KIF3A, KIF3B, KIFAP3, HSPA1A, PARD6A, PARD3, KLF4, SP1, CARD9, RNF7, MKNK2, UBE2D1, ALAS1, CDC34, APP, DCUN1D1, TGM2, FZR1, PCGF2, ZNF512B, CHEK2, KAT5, RPS6, NOB1, RPL11, LTV1, PRMT1, MSH4, UXT, AR, SON, EEF1B2, RPL21, RBPMS, VAPB, NCL, SLC2A1, CD44, SLC3A2, HIST4H4, CBR1, HIST1H1C, CAPZB, HIST1H2BL, LANCL1, HSPA5, PRDX1, RPL5, CBX1, CBX3, PRMT8, ILF3, PDCD5, PARK7, AURKA, GLI1, E2F1, SIRT1, HSPA4, HSP90AA1, MDFI, PLD1, UBC, UBE2D2, C1QB, C1QTNF2, CER1, KIRREL2, BCL2L14, COL9A1, KNG1, ASTL, RWDD3, GOLGA4, TRIP12, ZNF350, ID2, ID1, ID3, PLD2, TARDBP, GPLD1, CERKL, EPOR, DACT1, DACT2, RHOBTB3, UBE2S, HUWE1, USP9X, SMURF1, MAP3K1, PRKDC, CDK4, TSC1, CHEK1, APC, CDKN1B, KDM5C, ARID2, PTEN, PDGFRA, BRAF, RRM2, ARID1A, MAP2K1, PIK3R1, FGFR3, SMARCB1, CDK6, ROR1, CASP8, PBRM1, RPS6KB1, FLT3, VEGFA, SQSTM1, CEP68, ATF7IP, SETDB1, ARL14EP, OXT, AVP, CHIT1, INHBE, C1QL4, UTRN, ACTBL2, FAM19A3, AKT1, AKT2, PPP2CA, FASN, CAD | KIAA1430 |
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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 VHL_KIAA1430 |
![]() (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 VHL_KIAA1430 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | VHL | C0019562 | Von Hippel-Lindau Syndrome | 17 | CTD_human;ORPHANET;UNIPROT |
Hgene | VHL | C0007134 | Renal Cell Carcinoma | 9 | CTD_human;HPO |
Hgene | VHL | C0031511 | Pheochromocytoma | 9 | CTD_human;HPO;UNIPROT |
Hgene | VHL | C1837915 | ERYTHROCYTOSIS, FAMILIAL, 2 | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | VHL | C0001430 | Adenoma | 1 | CTD_human |
Hgene | VHL | C0022665 | Kidney Neoplasm | 1 | CTD_human |
Hgene | VHL | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | VHL | C0027708 | Nephroblastoma | 1 | CTD_human |
Hgene | VHL | C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | UNIPROT |