Summary ?
GeneID8607
SymbolRUVBL1
SynonymsECP-54|ECP54|INO80H|NMP 238|NMP238|PONTIN|Pontin52|RVB1|TIH1|TIP49|TIP49A
DescriptionRuvB like AAA ATPase 1
ReferenceMIM:603449|HGNC:HGNC:10474|Ensembl:ENSG00000175792|HPRD:09143|Vega:OTTHUMG00000159658
Gene typeprotein-coding
Map location3q21
Pascal p-value0.003
Sherlock p-value0.914
eGeneMyers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs6812324chr4157991591RUVBL186070.06trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
LEF10.540.31
ANO20.530.26
OTX20.520.16
KLK100.520.20
TRH0.500.01
ANXA30.500.28
EPHA10.490.15
GPR1770.490.25
PODNL10.490.23
PDE5A0.480.23
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
GNRHR-0.26-0.31
LMO7-0.26-0.22
ELMOD1-0.25-0.19
DNAJC2-0.24-0.24
NOVA1-0.24-0.23
AC022692.2-0.23-0.20
ARHGAP20-0.23-0.17
UPF2-0.23-0.17
DPP4-0.22-0.23
GTDC1-0.22-0.16

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACTL6AACTL6 | Arp4 | BAF53A | INO80K | MGC5382actin-like 6A-HPRD,BioGRID11839798 
C19orf2FLJ10575 | NNX3 | RMP | URIchromosome 19 open reading frame 2-HPRD14615539 
C20orf20Eaf7 | FLJ10914 | MRG15BP | MRGBP | URCC4chromosome 20 open reading frame 20-HPRD12963728 
C2orf44FLJ21945 | PP384chromosome 2 open reading frame 44Affinity Capture-MSBioGRID17353931 
CD824F9 | C33 | GR15 | IA4 | KAI1 | R2 | SAR2 | ST6 | TSPAN27CD82 moleculeRUVBL1 (pontin) interacts with the CD82 (KAI1) promoter.BIND15829968 
CTNNB1CTNNB | DKFZp686D02253 | FLJ25606 | FLJ37923catenin (cadherin-associated protein), beta 1, 88kDaAffinity Capture-Western
Reconstituted Complex
BioGRID9843967 
DNASE2DNASE2A | DNL | DNL2deoxyribonuclease II, lysosomalAffinity Capture-MSBioGRID17353931 
E2F7FLJ12981E2F transcription factor 7Affinity Capture-MSBioGRID17353931 
EP400CAGH32 | DKFZP434I225 | FLJ42018 | FLJ45115 | P400 | TNRC12E1A binding protein p400Affinity Capture-MS
Affinity Capture-Western
Reconstituted Complex
BioGRID11509179 
FDFT1DGPT | ERG9 | SQS | SSfarnesyl-diphosphate farnesyltransferase 1Affinity Capture-MSBioGRID17353931 
GNASAHO | C20orf45 | GNAS1 | GPSA | GSA | GSP | MGC33735 | PHP1A | PHP1B | POH | dJ309F20.1.1 | dJ806M20.3.3GNAS complex locusAffinity Capture-MSBioGRID17353931 
HLA-BAS | HLA-B-7301 | HLA-B73 | HLAB | HLAC | SPDA1major histocompatibility complex, class I, BAffinity Capture-MSBioGRID17353931 
KAT5ESA1 | HTATIP | HTATIP1 | PLIP | TIP | TIP60 | cPLA2K(lysine) acetyltransferase 5HTATIP (Tip60) interacts with RUVBL1 (pontin).BIND15829968 
KIAA1377-KIAA1377Two-hybridBioGRID16169070 
KLK3APS | KLK2A1 | PSA | hK3kallikrein-related peptidase 3RUVBL1 (pontin) interacts with the KLK3 (PSA) promoter.BIND15829968 
LEF1DKFZp586H0919 | TCF1ALPHAlymphoid enhancer-binding factor 1Affinity Capture-WesternBioGRID9843967 
MAP3K7TAK1 | TGF1amitogen-activated protein kinase kinase kinase 7-HPRD14743216 
MAP3K7IP2FLJ21885 | KIAA0733 | TAB2mitogen-activated protein kinase kinase kinase 7 interacting protein 2-HPRD14743216 
MYCbHLHe39 | c-Mycv-myc myelocytomatosis viral oncogene homolog (avian)Affinity Capture-Western
Co-purification
Reconstituted Complex
BioGRID11509179 |11839798 
NOP5/NOP58HSPC120nucleolar protein NOP5/NOP58-HPRD12417735 
PELOCGI-17 | PRO1770pelota homolog (Drosophila)Affinity Capture-MSBioGRID17353931 
PSTPIP1CD2BP1 | CD2BP1L | CD2BP1S | H-PIP | PAPAS | PSTPIPproline-serine-threonine phosphatase interacting protein 1Affinity Capture-MSBioGRID17353931 
RP11-529I10.4DKFZp566F084deleted in a mouse model of primary ciliary dyskinesiaAffinity Capture-MSBioGRID17353931 
RUVBL2CGI-46 | ECP51 | INO80J | REPTIN | RVB2 | TIH2 | TIP48 | TIP49BRuvB-like 2 (E. coli)Affinity Capture-MSBioGRID17353931 
SMARCA2BAF190 | BRM | FLJ36757 | MGC74511 | SNF2 | SNF2L2 | SNF2LA | SWI2 | Sth1p | hBRM | hSNF2aSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2Co-fractionationBioGRID11839798 
SMNDC1SMNR | SPF30survival motor neuron domain containing 1Affinity Capture-MSBioGRID17353931 
STAP1BRDG1 | STAP-1signal transducing adaptor family member 1Affinity Capture-MSBioGRID14615539 
TBPGTF2D | GTF2D1 | MGC117320 | MGC126054 | MGC126055 | SCA17 | TFIIDTATA box binding proteinReconstituted ComplexBioGRID9843967 
TRRAPFLJ10671 | PAF350/400 | PAF400 | STAF40 | TR-AP | Tra1transformation/transcription domain-associated proteinAffinity Capture-WesternBioGRID11839798 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG WNT SIGNALING PATHWAY 151112All SZGR 2.0 genes in this pathway
PID MYC ACTIV PATHWAY 7962All SZGR 2.0 genes in this pathway
PID ILK PATHWAY 4532All SZGR 2.0 genes in this pathway
PID MYC PATHWAY 2522All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME CHROMOSOME MAINTENANCE 12280All SZGR 2.0 genes in this pathway
REACTOME DEPOSITION OF NEW CENPA CONTAINING NUCLEOSOMES AT THE CENTROMERE 6443All SZGR 2.0 genes in this pathway
REACTOME TELOMERE MAINTENANCE 7557All SZGR 2.0 genes in this pathway
REACTOME EXTENSION OF TELOMERES 2717All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS UP 293179All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE DN 485334All SZGR 2.0 genes in this pathway
MATTIOLI MGUS VS PCL 11662All SZGR 2.0 genes in this pathway
MATTIOLI MULTIPLE MYELOMA SUBGROUPS 167All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
BENPORATH ES 1 379235All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289166All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475313All SZGR 2.0 genes in this pathway
HESS TARGETS OF HOXA9 AND MEIS1 UP 6544All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 6HR DN 911527All SZGR 2.0 genes in this pathway
KRIGE RESPONSE TO TOSEDOSTAT 24HR DN 1011592All SZGR 2.0 genes in this pathway
GAVIN FOXP3 TARGETS CLUSTER T7 9863All SZGR 2.0 genes in this pathway
SANSOM WNT PATHWAY REQUIRE MYC 5843All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299189All SZGR 2.0 genes in this pathway
YOSHIMURA MAPK8 TARGETS UP 1305895All SZGR 2.0 genes in this pathway
CHANG CORE SERUM RESPONSE UP 212128All SZGR 2.0 genes in this pathway
YAGI AML WITH T 9 11 TRANSLOCATION 13087All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES UP 605377All SZGR 2.0 genes in this pathway
WONG EMBRYONIC STEM CELL CORE 335193All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 17 181101All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 DN 374217All SZGR 2.0 genes in this pathway
LU EZH2 TARGETS UP 295155All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 6HR UP 229149All SZGR 2.0 genes in this pathway
PILON KLF1 TARGETS DN 19721213All SZGR 2.0 genes in this pathway
BHAT ESR1 TARGETS VIA AKT1 UP 281183All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE LATE 1137655All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
FEVR CTNNB1 TARGETS DN 553343All SZGR 2.0 genes in this pathway
YUAN ZNF143 PARTNERS 2215All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239156All SZGR 2.0 genes in this pathway