Gene Page: BLM

Summary ?
GeneID641
SymbolBLM
SynonymsBS|RECQ2|RECQL2|RECQL3
DescriptionBloom syndrome RecQ like helicase
ReferenceMIM:604610|HGNC:HGNC:1058|Ensembl:ENSG00000197299|HPRD:05211|Vega:OTTHUMG00000149834
Gene typeprotein-coding
Map location15q26.1
Pascal p-value0.011
Fetal beta0.094
DMG1 (# studies)
SupportAscano FMRP targets

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Jaffe_2016Genome-wide DNA methylation analysisThis dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study
cg079733951591260024BLM6.16E-9-0.0143.26E-6DMG:Jaffe_2016


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

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
PSMD130.870.86
EIF2B30.850.85
CAMLG0.850.87
PSMB70.850.87
OCIAD20.840.84
CCT70.840.84
COQ30.840.86
EIF5A0.840.84
EAPP0.840.85
ZNF6220.830.83
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
MT-CYB-0.72-0.75
AF347015.33-0.71-0.73
AF347015.26-0.71-0.76
MT-CO2-0.71-0.70
AF347015.8-0.71-0.73
AF347015.15-0.71-0.75
AF347015.2-0.69-0.73
AF347015.27-0.69-0.71
AF347015.31-0.68-0.70
AF347015.9-0.67-0.73

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ATMAT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1ataxia telangiectasia mutatedAffinity Capture-Western
Co-purification
Reconstituted Complex		BioGRID10783165 |12034743 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetCo-purificationBioGRID10783165 
CASP3CPP32 | CPP32B | SCA-1caspase 3, apoptosis-related cysteine peptidaseBiochemical ActivityBioGRID11470874 
CHAF1ACAF-1 | CAF1 | CAF1B | CAF1P150 | MGC71229 | P150chromatin assembly factor 1, subunit A (p150)Affinity Capture-Western
Far Western
Two-hybrid		BioGRID15143166 
CHEK1CHK1CHK1 checkpoint homolog (S. pombe)Affinity Capture-Western
Co-localization		BioGRID15364958 
FANCAFA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158Fanconi anemia, complementation group AAffinity Capture-MSBioGRID12973351 
FANCD2DKFZp762A223 | FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD | FLJ23826Fanconi anemia, complementation group D2Affinity Capture-WesternBioGRID15257300 
FEN1FEN-1 | MF1 | RAD2flap structure-specific endonuclease 1Affinity Capture-Western
Reconstituted Complex		BioGRID14688284 
H2AFXH2A.X | H2A/X | H2AXH2A histone family, member XAffinity Capture-Western
Co-localization		BioGRID15364958 
MLH1COCA2 | FCC2 | HNPCC | HNPCC2 | MGC5172 | hMLH1mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)-HPRD,BioGRID11691925 
MLH1COCA2 | FCC2 | HNPCC | HNPCC2 | MGC5172 | hMLH1mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)MLH1 interacts with BLM.BIND11691925 
MRE11AATLD | HNGS1 | MRE11 | MRE11BMRE11 meiotic recombination 11 homolog A (S. cerevisiae)Co-purificationBioGRID10783165 
MSH2COCA1 | FCC1 | HNPCC | HNPCC1 | LCFS2mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)Co-purificationBioGRID10783165 
MSH6GTBP | HNPCC5 | HSAPmutS homolog 6 (E. coli)Co-purificationBioGRID10783165 
MX1IFI-78K | IFI78 | MX | MxAmyxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)-HPRD,BioGRID11716541 
NBNAT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95nibrinCo-purificationBioGRID10783165 
RAD50RAD50-2 | hRad50RAD50 homolog (S. cerevisiae)Co-purificationBioGRID10783165 
RAD51BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECARAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)-HPRD,BioGRID11278509 
RAD51BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECARAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)BLM interacts with RAD51.BIND11278509 
RAD51L3HsTRAD | R51H3 | RAD51D | TradRAD51-like 3 (S. cerevisiae)-HPRD,BioGRID12975363 
RFC1A1 | MGC51786 | MHCBFB | PO-GA | RECC1 | RFC | RFC140replication factor C (activator 1) 1, 145kDaCo-purificationBioGRID10783165 
RPA1HSSB | REPA1 | RF-A | RP-A | RPA70replication protein A1, 70kDaBiochemical Activity
Co-localization
Reconstituted Complex		BioGRID10825162 |11950880 
|12181313 
SMC1ACDLS2 | DKFZp686L19178 | DXS423E | KIAA0178 | MGC138332 | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCBstructural maintenance of chromosomes 1A-HPRD11877377 
TERF2TRBF2 | TRF2telomeric repeat binding factor 2-HPRD,BioGRID12181313 
TERF2TRBF2 | TRF2telomeric repeat binding factor 2BLM interacts with TRF2.BIND12181313 
TOP3ATOP3topoisomerase (DNA) III alphaBLM interacts with Top3A (Topo III-alpha).BIND15775963 
TOP3ATOP3topoisomerase (DNA) III alpha-HPRD10734115 |11406610 
TOP3ATOP3topoisomerase (DNA) III alphaBLM interacts with Topoisomerase III-alpha.BIND10734115 
TOP3ATOP3topoisomerase (DNA) III alphaAffinity Capture-Western
Co-localization
Far Western
Reconstituted Complex		BioGRID10734115 |10825162 
|11406610 |11470874 
|15143166 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53BLM interacts with p53.BIND12080066 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53BLM interacts with p53. This interaction was modeled on a demonstrated interaction between BLM and p53 both from African green monkey.BIND15806145 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53-HPRD,BioGRID11781842 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53p53 interacts with BLM.BIND11781842 
TP53BP153BP1 | FLJ41424 | MGC138366 | p202tumor protein p53 binding protein 1Affinity Capture-Western
Co-localization		BioGRID15364958 
WRNDKFZp686C2056 | RECQ3 | RECQL2 | RECQL3Werner syndromeBLM interacts with WRN.BIND11919194 
WRNDKFZp686C2056 | RECQ3 | RECQL2 | RECQL3Werner syndrome-HPRD,BioGRID11919194 
XRCC2DKFZp781P0919X-ray repair complementing defective repair in Chinese hamster cells 2Affinity Capture-Western
Reconstituted Complex		BioGRID12975363 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG HOMOLOGOUS RECOMBINATION 2817All SZGR 2.0 genes in this pathway
PID FANCONI PATHWAY 4728All SZGR 2.0 genes in this pathway
PID ATM PATHWAY 3425All SZGR 2.0 genes in this pathway
PID TELOMERASE PATHWAY 6848All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 11681All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC RECOMBINATION 8662All SZGR 2.0 genes in this pathway
SOTIRIOU BREAST CANCER GRADE 1 VS 3 UP 15184All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404246All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584356All SZGR 2.0 genes in this pathway
RIZ ERYTHROID DIFFERENTIATION 7751All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
FURUKAWA DUSP6 TARGETS PCI35 DN 7440All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All SZGR 2.0 genes in this pathway
PUJANA XPRSS INT NETWORK 168103All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423265All 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
PUJANA BRCA CENTERED NETWORK 11772All SZGR 2.0 genes in this pathway
KAUFFMANN MELANOMA RELAPSE UP 6125All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024594All SZGR 2.0 genes in this pathway
FERREIRA EWINGS SARCOMA UNSTABLE VS STABLE UP 16792All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795478All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPLICATION GENES 14787All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL AND BRAIN QTL TRANS 185114All SZGR 2.0 genes in this pathway
PEART HDAC PROLIFERATION CLUSTER UP 5735All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 DN 163115All SZGR 2.0 genes in this pathway
VERNELL RETINOBLASTOMA PATHWAY UP 7047All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE DN 12376All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT DN 8056All SZGR 2.0 genes in this pathway
SONG TARGETS OF IE86 CMV PROTEIN 6042All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428266All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728415All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180114All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN 249165All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299189All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 4730All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO SERM OR FULVESTRANT DN 5029All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS DN 14279All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240153All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185116All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277166All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS DN 8950All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER WITH BRCA1 MUTATED UP 5627All SZGR 2.0 genes in this pathway
KOBAYASHI EGFR SIGNALING 24HR DN 251151All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277172All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
WONG EMBRYONIC STEM CELL CORE 335193All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE S 16286All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456287All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162122All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 DN 374217All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570339All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239156All SZGR 2.0 genes in this pathway