Gene Page:BLM

Summary?
GeneID 641
Symbol BLM
Synonyms BS|RECQ2|RECQL2|RECQL3
Description Bloom syndrome RecQ like helicase
Reference MIM:604610|HGNC:HGNC:1058|Ensembl:ENSG00000197299|HPRD:05211|Vega:OTTHUMG00000149834
Gene type protein-coding
Map location 15q26.1
Pascal p-value 0.011
Fetal beta 0.094
DMG 1 (# studies)
Support Ascano FMRP targets

Gene in Data Sources
Gene set name Method of gene set Description Info
CV:PGCnp Genome-wide Association Study GWAS
DMG:Jaffe_2016 Genome-wide DNA methylation analysis This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 1
PMID:cooccur High-throughput literature-search Systematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
Literature High-throughput literature-search 与精神分裂症Co-occurance关键词:schizophrenia,schizophrenic,schizophrenias Click to show details

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

Probe Chromosome Position Nearest gene P (dis) Beta (dis) FDR (dis) Study
cg07973395 15 91260024 BLM 6.16E-9 -0.014 3.26E-6 DMG: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
Gene Pearson's Correlation Spearman's Correlation
PSMD13 0.87 0.86
EIF2B3 0.85 0.85
CAMLG 0.85 0.87
PSMB7 0.85 0.87
OCIAD2 0.84 0.84
CCT7 0.84 0.84
COQ3 0.84 0.86
EIF5A 0.84 0.84
EAPP 0.84 0.85
ZNF622 0.83 0.83
Top 10 negatively co-expressed genes
Gene Pearson'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

Interactors Aliases B Official full name B Experimental Source PubMed ID
ATM AT1 | ATA | ATC | ATD | ATDC | ATE | DKFZp781A0353 | MGC74674 | TEL1 | TELO1 ataxia telangiectasia mutated Affinity Capture-Western
Co-purification
Reconstituted Complex		 BioGRID 10783165|12034743
BRCA1 BRCAI | BRCC1 | IRIS | PSCP | RNF53 breast cancer 1, early onset Co-purification BioGRID 10783165
CASP3 CPP32 | CPP32B | SCA-1 caspase 3, apoptosis-related cysteine peptidase Biochemical Activity BioGRID 11470874
CHAF1A CAF-1 | CAF1 | CAF1B | CAF1P150 | MGC71229 | P150 chromatin assembly factor 1, subunit A (p150) Affinity Capture-Western
Far Western
Two-hybrid		 BioGRID 15143166
CHEK1 CHK1 CHK1 checkpoint homolog (S. pombe) Affinity Capture-Western
Co-localization		 BioGRID 15364958
FANCA FA | FA-H | FA1 | FAA | FACA | FAH | FANCH | MGC75158 Fanconi anemia, complementation group A Affinity Capture-MS BioGRID 12973351
FANCD2 DKFZp762A223 | FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD | FLJ23826 Fanconi anemia, complementation group D2 Affinity Capture-Western BioGRID 15257300
FEN1 FEN-1 | MF1 | RAD2 flap structure-specific endonuclease 1 Affinity Capture-Western
Reconstituted Complex		 BioGRID 14688284
H2AFX H2A.X | H2A/X | H2AX H2A histone family, member X Affinity Capture-Western
Co-localization		 BioGRID 15364958
MLH1 COCA2 | FCC2 | HNPCC | HNPCC2 | MGC5172 | hMLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) - HPRD,BioGRID 11691925
MLH1 COCA2 | FCC2 | HNPCC | HNPCC2 | MGC5172 | hMLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) MLH1 interacts with BLM. BIND 11691925
MRE11A ATLD | HNGS1 | MRE11 | MRE11B MRE11 meiotic recombination 11 homolog A (S. cerevisiae) Co-purification BioGRID 10783165
MSH2 COCA1 | FCC1 | HNPCC | HNPCC1 | LCFS2 mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) Co-purification BioGRID 10783165
MSH6 GTBP | HNPCC5 | HSAP mutS homolog 6 (E. coli) Co-purification BioGRID 10783165
MX1 IFI-78K | IFI78 | MX | MxA myxovirus(流感病毒)电阻1,无所作为on-inducible protein p78 (mouse) - HPRD,BioGRID 11716541
NBN AT-V1 | AT-V2 | ATV | FLJ10155 | MGC87362 | NBS | NBS1 | P95 nibrin Co-purification BioGRID 10783165
RAD50 RAD50-2 | hRad50 RAD50 homolog (S. cerevisiae) Co-purification BioGRID 10783165
RAD51 BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECA RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) - HPRD,BioGRID 11278509
RAD51 BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECA RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) BLM interacts with RAD51. BIND 11278509
RAD51L3 HsTRAD | R51H3 | RAD51D | Trad RAD51-like 3 (S. cerevisiae) - HPRD,BioGRID 12975363
RFC1 A1 | MGC51786 | MHCBFB | PO-GA | RECC1 | RFC | RFC140 replication factor C (activator 1) 1, 145kDa Co-purification BioGRID 10783165
RPA1 HSSB | REPA1 | RF-A | RP-A | RPA70 replication protein A1, 70kDa Biochemical Activity
Co-localization
Reconstituted Complex		 BioGRID 10825162|11950880
|12181313
SMC1A CDLS2 | DKFZp686L19178 | DXS423E | KIAA0178 | MGC138332 | SB1.8 | SMC1 | SMC1L1 | SMC1alpha | SMCB structural maintenance of chromosomes 1A - HPRD 11877377
TERF2 TRBF2 | TRF2 telomeric repeat binding factor 2 - HPRD,BioGRID 12181313
TERF2 TRBF2 | TRF2 telomeric repeat binding factor 2 BLM interacts with TRF2. BIND 12181313
TOP3A TOP3 topoisomerase (DNA) III alpha BLM interacts with Top3A (Topo III-alpha). BIND 15775963
TOP3A TOP3 topoisomerase (DNA) III alpha - HPRD 10734115|11406610
TOP3A TOP3 topoisomerase (DNA) III alpha BLM interacts with Topoisomerase III-alpha. BIND 10734115
TOP3A TOP3 topoisomerase (DNA) III alpha Affinity Capture-Western
Co-localization
Far Western
Reconstituted Complex		 BioGRID 10734115|10825162
|11406610|11470874
|15143166
TP53 FLJ92943 | LFS1 | TRP53 | p53 tumor protein p53 BLM interacts with p53. BIND 12080066
TP53 FLJ92943 | LFS1 | TRP53 | p53 tumor protein p53 BLM interacts with p53. This interaction was modeled on a demonstrated interaction between BLM and p53 both from African green monkey. BIND 15806145
TP53 FLJ92943 | LFS1 | TRP53 | p53 tumor protein p53 - HPRD,BioGRID 11781842
TP53 FLJ92943 | LFS1 | TRP53 | p53 tumor protein p53 p53 interacts with BLM. BIND 11781842
TP53BP1 53BP1 | FLJ41424 | MGC138366 | p202 tumor protein p53 binding protein 1 Affinity Capture-Western
Co-localization		 BioGRID 15364958
WRN DKFZp686C2056 | RECQ3 | RECQL2 | RECQL3 Werner syndrome BLM interacts with WRN. BIND 11919194
WRN DKFZp686C2056 | RECQ3 | RECQL2 | RECQL3 Werner syndrome - HPRD,BioGRID 11919194
XRCC2 DKFZp781P0919 X-ray repair complementing defective repair in Chinese hamster cells 2 Affinity Capture-Western
Reconstituted Complex		 BioGRID 12975363


Section V. Pathway annotation

Pathway name Pathway size # SZGR 2.0 genes in pathway Info
KEGG HOMOLOGOUS RECOMBINATION 28 17 All SZGR 2.0 genes in this pathway
PID FANCONI PATHWAY 47 28 All SZGR 2.0 genes in this pathway
PID ATM PATHWAY 34 25 All SZGR 2.0 genes in this pathway
PID TELOMERASE PATHWAY 68 48 All SZGR 2.0 genes in this pathway
REACTOME MEIOSIS 116 81 All SZGR 2.0 genes in this pathway
REACTOME MEIOTIC RECOMBINATION 86 62 All SZGR 2.0 genes in this pathway
SOTIRIOU BREAST CANCER GRADE 1 VS 3 UP 151 84 All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404 246 All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278 748 All SZGR 2.0 genes in this pathway
HAMAI APOPTOSIS VIA TRAIL UP 584 356 All SZGR 2.0 genes in this pathway
RIZ ERYTHROID DIFFERENTIATION 77 51 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855 609 All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483 336 All SZGR 2.0 genes in this pathway
FURUKAWA DUSP6 TARGETS PCI35 DN 74 40 All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 101 73 All SZGR 2.0 genes in this pathway
PUJANA XPRSS INT NETWORK 168 103 All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 1652 1023 All SZGR 2.0 genes in this pathway
PUJANA BRCA2 PCC NETWORK 423 265 All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442 892 All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779 480 All SZGR 2.0 genes in this pathway
PUJANA BRCA CENTERED NETWORK 117 72 All SZGR 2.0 genes in this pathway
KAUFFMANN MELANOMA RELAPSE UP 61 25 All SZGR 2.0 genes in this pathway
NUYTTEN EZH2 TARGETS DN 1024 594 All SZGR 2.0 genes in this pathway
FERREIRA EWINGS SARCOMA UNSTABLE VS STABLE UP 167 92 All SZGR 2.0 genes in this pathway
WEI MYCN TARGETS WITH E BOX 795 478 All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893 528 All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230 137 All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPLICATION GENES 147 87 All SZGR 2.0 genes in this pathway
BYSTRYKH HEMATOPOIESIS STEM CELL AND BRAIN QTL TRANS 185 114 All SZGR 2.0 genes in this pathway
PEART HDAC PROLIFERATION CLUSTER UP 57 35 All SZGR 2.0 genes in this pathway
LI WILMS TUMOR VS FETAL KIDNEY 1 DN 163 115 All SZGR 2.0 genes in this pathway
VERNELL RETINOBLASTOMA PATHWAY UP 70 47 All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE DN 123 76 All SZGR 2.0 genes in this pathway
LINDVALL IMMORTALIZED BY TERT DN 80 56 All SZGR 2.0 genes in this pathway
SONG TARGETS OF IE86 CMV PROTEIN 60 42 All SZGR 2.0 genes in this pathway
CUI TCF21 TARGETS 2 UP 428 266 All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229 713 All SZGR 2.0 genes in this pathway
MARSON BOUND BY E2F4 UNSTIMULATED 728 415 All SZGR 2.0 genes in this pathway
SARRIO EPITHELIAL MESENCHYMAL TRANSITION UP 180 114 All SZGR 2.0 genes in this pathway
MITSIADES RESPONSE TO APLIDIN DN 249 165 All SZGR 2.0 genes in this pathway
MUELLER PLURINET 299 189 All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323 240 All SZGR 2.0 genes in this pathway
BOHN PRIMARY IMMUNODEFICIENCY SYNDROM UP 47 30 All SZGR 2.0 genes in this pathway
FRASOR RESPONSE TO SERM OR FULVESTRANT DN 50 29 All SZGR 2.0 genes in this pathway
RUIZ TNC TARGETS DN 142 79 All SZGR 2.0 genes in this pathway
VANTVEER BREAST CANCER ESR1 DN 240 153 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 36HR DN 185 116 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS 60HR DN 277 166 All SZGR 2.0 genes in this pathway
ZHANG TLX TARGETS DN 89 50 All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288 168 All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER WITH BRCA1 MUTATED UP 56 27 All SZGR 2.0 genes in this pathway
KOBAYASHI EGFR SIGNALING 24HR DN 251 151 All SZGR 2.0 genes in this pathway
FOURNIER ACINAR DEVELOPMENT LATE 2 277 172 All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103 714 All SZGR 2.0 genes in this pathway
WONG EMBRYONIC STEM CELL CORE 335 193 All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE S 162 86 All SZGR 2.0 genes in this pathway
MARTENS BOUND BY PML RARA FUSION 456 287 All SZGR 2.0 genes in this pathway
VERHAAK GLIOBLASTOMA CLASSICAL 162 122 All SZGR 2.0 genes in this pathway
WANG RESPONSE TO GSK3 INHIBITOR SB216763 DN 374 217 All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324 193 All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882 538 All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION UP 570 339 All SZGR 2.0 genes in this pathway
ALFANO MYC TARGETS 239 156 All SZGR 2.0 genes in this pathway