Gene Page: BARD1

Summary ?
GeneID580
SymbolBARD1
Synonyms-
DescriptionBRCA1 associated RING domain 1
ReferenceMIM:601593|HGNC:HGNC:952|Ensembl:ENSG00000138376|HPRD:03354|Vega:OTTHUMG00000133016
Gene typeprotein-coding
Map location2q35
Pascal p-value0.26
Sherlock p-value0.701
Fetal beta1.216
eGeneMyers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
GSMA_IIAGenome scan meta-analysis (All samples)Psr: 0.00916 
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01016 
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophreniasClick to show details
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.3518 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs9789570chr2215694649BARD15800.01cis
rs2166458chr2215716168BARD15800cis
rs777307chr2215731208BARD15800.18cis
rs7578759chr2215798407BARD15800.17cis
rs1409612chr2215800709BARD15800.03cis
rs2166458chr2215716168BARD15800.11trans
rs1007573chr1299092620BARD15800.13trans

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
USP400.790.82
CAPN20.740.70
SLC44A20.740.70
AK30.720.69
MCCC20.720.69
CHD1L0.720.72
BMP70.720.70
ALDH7A10.720.72
CPT20.710.72
SEPT20.710.74
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
IL32-0.40-0.37
FAM159B-0.38-0.26
AF347015.21-0.36-0.18
RP9P-0.32-0.24
TTC9B-0.31-0.28
CLEC3B-0.31-0.36
AL050337.1-0.31-0.13
AC087071.1-0.30-0.13
AL049792.1-0.29-0.15
AC021914.1-0.29-0.10

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0003723RNA bindingIDA12419249 
GO:0005515protein bindingIPI8944023 |10026184 |10477523 
|15184379 |15265711 
|15782130 
GO:0004842ubiquitin-protein ligase activityNAS15905410 
GO:0008270zinc ion bindingIEA-
GO:0019900kinase bindingNAS15782130 
GO:0042803protein homodimerization activityIPI15265711 
GO:0046872metal ion bindingIEA-
GO:0046982protein heterodimerization activityIPI15265711 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0001894tissue homeostasisTAS15782130 
GO:0007050cell cycle arrestNAS15632137 
GO:0006974response to DNA damage stimulusNAS15905410 
GO:0043065positive regulation of apoptosisIMP15782130 
GO:0016567protein ubiquitinationNAS15905410 
GO:0043066negative regulation of apoptosisIMP15265711 
GO:0042325regulation of phosphorylationIMP15782130 
GO:0031441negative regulation of mRNA 3'-end processingNAS15905410 
GO:0045732positive regulation of protein catabolic processNAS15905410 
GO:0046826negative regulation of protein export from nucleusIDA15265711 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000151ubiquitin ligase complexNAS14976165 
GO:0005622intracellularIEA-
GO:0005634nucleusIDA15265711 
GO:0005634nucleusIMP15632137 
GO:0005737cytoplasmIDA15265711 
GO:0031436BRCA1-BARD1 complexIDA15265711 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BARD1-BRCA1 associated RING domain 1Reconstituted ComplexBioGRID11257228 
BCL3BCL4 | D19S37B-cell CLL/lymphoma 3-HPRD,BioGRID10362352 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onsetAffinity Capture-MS
Affinity Capture-Western
Co-crystal Structure
Co-localization
Co-purification
FRET
Reconstituted Complex
Two-hybrid		BioGRID8944023 |9342365 
|9738006 |9788437 
|10026184 |10477523 
|10635334 |11257228 
|11278247 |11301010 
|11498787 |11504724 
|11526114 |11573085 
|11773071 |11925436 
|11927591 |12431996 
|12438698 |12485996 
|12700228 |12732733 
|12887909 |12890688 
|12951069 |14636569 
|14638690 |14647430 
|15159397 |15184379 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD8944023 |10026184 
|11573085 |11773071 
|12431996 
BRCA1BRCAI | BRCC1 | IRIS | PSCP | RNF53breast cancer 1, early onset-HPRD8944023 |10026184 
|11773071 |12431996 
BRCA2BRCC2 | FACD | FAD | FAD1 | FANCB | FANCD | FANCD1breast cancer 2, early onsetCo-purification
Reconstituted Complex		BioGRID14636569 
BRCC3BRCC36 | C6.1A | CXorf53BRCA1/BRCA2-containing complex, subunit 3Affinity Capture-MS
Affinity Capture-Western		BioGRID14636569 
BREBRCC4 | BRCC45brain and reproductive organ-expressed (TNFRSF1A modulator)Affinity Capture-MS
Affinity Capture-Western		BioGRID14636569 
CSTF1CstF-50 | CstFp50cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa-HPRD,BioGRID10477523 |11257228 
CSTF2CstF-64cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDaAffinity Capture-Western
Co-purification		BioGRID10477523 |11257228 
E2F1E2F-1 | RBAP1 | RBBP3 | RBP3E2F transcription factor 1E2F1 interacts with the BARD1 promoter.BIND11799067 
E2F4E2F-4E2F transcription factor 4, p107/p130-bindingE2F4 interacts with the BARD1 promoter region.BIND11799067 
EWSR1EWSEwing sarcoma breakpoint region 1-HPRD,BioGRID12183411 
FANCD2DKFZp762A223 | FA-D2 | FA4 | FACD | FAD | FAD2 | FANCD | FLJ23826Fanconi anemia, complementation group D2Co-localization
Reconstituted Complex		BioGRID12887909 
H2AFXH2A.X | H2A/X | H2AXH2A histone family, member XReconstituted ComplexBioGRID11927591 |12485996 
HIST2H2AB-histone cluster 2, H2abReconstituted ComplexBioGRID11927591 
ING5FLJ23842 | p28ING5inhibitor of growth family, member 5-HPRD15383276 
MED17CRSP6 | CRSP77 | DRIP80 | FLJ10812 | TRAP80mediator complex subunit 17Co-purificationBioGRID12154023 
MSH2COCA1 | FCC1 | HNPCC | HNPCC1 | LCFS2mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)-HPRD,BioGRID11498787 
MSH3DUP | MGC163306 | MGC163308 | MRP1mutS homolog 3 (E. coli)Reconstituted ComplexBioGRID11498787 
MSH6GTBP | HNPCC5 | HSAPmutS homolog 6 (E. coli)Reconstituted ComplexBioGRID11498787 
NFKBIAIKBA | MAD-3 | NFKBInuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alphaTwo-hybridBioGRID10362352 
NPM1B23 | MGC104254 | NPMnucleophosmin (nucleolar phosphoprotein B23, numatrin)Affinity Capture-MS
Affinity Capture-Western
Reconstituted Complex		BioGRID15184379 
POLR2AMGC75453 | POLR2 | POLRA | RPB1 | RPBh1 | RPO2 | RPOL2 | RpIILS | hRPB220 | hsRPB1polymerase (RNA) II (DNA directed) polypeptide A, 220kDa-HPRD12154023 
POU2F1OCT1 | OTF1POU class 2 homeobox 1-HPRD11777930 
RAD51BRCC5 | HRAD51 | HsRad51 | HsT16930 | RAD51A | RECARAD51 homolog (RecA homolog, E. coli) (S. cerevisiae)Affinity Capture-MS
Affinity Capture-Western		BioGRID14636569 
RBBP8CTIP | RIMretinoblastoma binding protein 8-HPRD,BioGRID10764811 
RELAMGC131774 | NFKB3 | p65v-rel reticuloendotheliosis viral oncogene homolog A (avian)Affinity Capture-WesternBioGRID12700228 
TCERG1CA150 | MGC133200 | TAF2Stranscription elongation regulator 1-HPRD15383276 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53Affinity Capture-MS
Affinity Capture-Western		BioGRID14636569 
TP53FLJ92943 | LFS1 | TRP53 | p53tumor protein p53TP53 (p53) interacts with BARD1.BIND15782130 
UBA1A1S9 | A1S9T | A1ST | AMCX1 | GXP1 | MGC4781 | SMAX2 | UBA1A | UBE1 | UBE1Xubiquitin-like modifier activating enzyme 1Reconstituted ComplexBioGRID11278247 |11927591 
|12431996 |12438698 
|12485996 |12887909 
|15184379 
UBE2D1E2(17)KB1 | SFT | UBC4/5 | UBCH5 | UBCH5Aubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)Reconstituted ComplexBioGRID11278247 |11927591 
|12438698 |12485996 
|12887909 |12890688 
|14636569 |15184379 
UBE2D2E2(17)KB2 | PUBC1 | UBC4 | UBC4/5 | UBCH5Bubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)Reconstituted ComplexBioGRID12431996 
UBE2D3E2(17)KB3 | MGC43926 | MGC5416 | UBC4/5 | UBCH5Cubiquitin-conjugating enzyme E2D 3 (UBC4/5 homolog, yeast)-HPRD12732733 
UBE2L3E2-F1 | L-UBC | UBCH7 | UbcM4ubiquitin-conjugating enzyme E2L 3-HPRD12732733 
UBE3AANCR | AS | E6-AP | EPVE6AP | FLJ26981 | HPVE6Aubiquitin protein ligase E3AReconstituted ComplexBioGRID12890688 
XISTDKFZp779P0129 | DXS1089 | DXS399E | NCRNA00001 | SXI1 | XCE | XIC | swd66X (inactive)-specific transcript (non-protein coding)Co-localizationBioGRID12419249 
XRCC6CTC75 | CTCBF | G22P1 | KU70 | ML8 | TLAAX-ray repair complementing defective repair in Chinese hamster cells 6BARD1 interacts with XRCC6 (Ku70).BIND15782130 
ZHX1-zinc fingers and homeoboxes 1-HPRD15383276 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
PID BARD1 PATHWAY 2919All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR MARKERS UP 2113All SZGR 2.0 genes in this pathway
PYEON HPV POSITIVE TUMORS UP 9847All SZGR 2.0 genes in this pathway
CHEMNITZ RESPONSE TO PROSTAGLANDIN E2 UP 14686All SZGR 2.0 genes in this pathway
CORRE MULTIPLE MYELOMA DN 6241All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER EARLY UP 430232All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS TURQUOISE DN 5325All SZGR 2.0 genes in this pathway
RHEIN ALL GLUCOCORTICOID THERAPY DN 362238All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536332All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS DN 459276All SZGR 2.0 genes in this pathway
HAHTOLA SEZARY SYNDROM UP 9858All SZGR 2.0 genes in this pathway
HAHTOLA MYCOSIS FUNGOIDES SKIN UP 177113All SZGR 2.0 genes in this pathway
TANG SENESCENCE TP53 TARGETS DN 5733All SZGR 2.0 genes in this pathway
RIZ ERYTHROID DIFFERENTIATION HBZ 4127All 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
KIM MYCN AMPLIFICATION TARGETS DN 10359All SZGR 2.0 genes in this pathway
PUJANA BREAST CANCER LIT INT NETWORK 10173All 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 CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS DN 637377All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
BENPORATH CYCLING GENES 648385All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
NELSON RESPONSE TO ANDROGEN DN 1914All SZGR 2.0 genes in this pathway
PENG GLUTAMINE DEPRIVATION UP 3825All SZGR 2.0 genes in this pathway
MANALO HYPOXIA DN 289166All SZGR 2.0 genes in this pathway
POMEROY MEDULLOBLASTOMA PROGNOSIS DN 4328All SZGR 2.0 genes in this pathway
REN BOUND BY E2F 6140All SZGR 2.0 genes in this pathway
SASAKI ADULT T CELL LEUKEMIA 176122All SZGR 2.0 genes in this pathway
MOREAUX B LYMPHOCYTE MATURATION BY TACI DN 7345All SZGR 2.0 genes in this pathway
FERRANDO T ALL WITH MLL ENL FUSION DN 8757All SZGR 2.0 genes in this pathway
HADDAD B LYMPHOCYTE PROGENITOR 293193All SZGR 2.0 genes in this pathway
VERNELL RETINOBLASTOMA PATHWAY UP 7047All SZGR 2.0 genes in this pathway
ZHAN V2 LATE DIFFERENTIATION GENES 4534All SZGR 2.0 genes in this pathway
MOREAUX MULTIPLE MYELOMA BY TACI DN 172107All SZGR 2.0 genes in this pathway
LY AGING PREMATURE DN 3017All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 2 5034All SZGR 2.0 genes in this pathway
KANG DOXORUBICIN RESISTANCE UP 5433All SZGR 2.0 genes in this pathway
SONG TARGETS OF IE86 CMV PROTEIN 6042All SZGR 2.0 genes in this pathway
LY AGING OLD DN 5635All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 1 528324All 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
DE YY1 TARGETS DN 9264All SZGR 2.0 genes in this pathway
DAIRKEE CANCER PRONE RESPONSE BPA E2 11865All SZGR 2.0 genes in this pathway
TOYOTA TARGETS OF MIR34B AND MIR34C 463262All SZGR 2.0 genes in this pathway
WEST ADRENOCORTICAL TUMOR UP 294199All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB DN 342220All 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
CHANG CYCLING GENES 14883All SZGR 2.0 genes in this pathway
BOYAULT LIVER CANCER SUBCLASS G123 UP 4521All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS PROLIFERATION UP 178108All 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
PYEON CANCER HEAD AND NECK VS CERVICAL UP 19395All SZGR 2.0 genes in this pathway
HAHTOLA CTCL CUTANEOUS 2619All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
ZEMBUTSU SENSITIVITY TO VINCRISTINE 1910All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway
WHITFIELD CELL CYCLE G1 S 14776All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR UP 324193All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway