Disease table of BREAST CANCER OMIM ID: 114480

Gene-disease associations table

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Gene	Associated with BREAST CANCER in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AKT1	OMIM, HUMSAVAR	HGNC link	14q32.33	6	167000, 176920, 114480, 181500, 114500, PS158350
ATM	OMIM	HGNC link	11q22.3	2	208900, 114480
BARD1	OMIM	HGNC link	2q35	1	114480
BCPR	OMIM	HGNC link	17-	1	114480
BRCA1	HUMSAVAR	HGNC link	17q21.31	5	PS227650, 167000, 614320, PS604370, 114480
BRCA2	OMIM, HUMSAVAR	HGNC link	13q13.1	8	PS227650, PS194070, 155255, 114480, 176807, PS137800, 613347, PS604370
BRIP1	OMIM, HUMSAVAR	HGNC link	17q23.2	2	PS227650, 114480
CASP8	OMIM	HGNC link	2q33.1	4	114550, 607271, 211980, 114480
CDH1	OMIM	HGNC link	16q22.1	5	608089, 167000, 176807, 137215, 114480
CHEK2	OMIM, HUMSAVAR	HGNC link	22q12.1	4	PS151623, 176807, 259500, 114480

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Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

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Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
14q32.33	2	AKT1, XRCC3
17q23.2	2	BRIP1, PPM1D

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By band

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Shared band	Number of genes associated with the disease	Genes associated with the disease
11p15	2	TSG101, SLC22A18
14q32	2	AKT1, XRCC3
17q21	2	BRCA1, PHB
17q23	2	BRIP1, PPM1D

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By region

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Shared region	Number of genes associated with the disease	Genes associated with the disease
11p1	2	TSG101, SLC22A18
14q3	2	AKT1, XRCC3
17q2	4	BRCA1, BRIP1, PPM1D, PHB
2q3	2	BARD1, CASP8

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By arm

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Shared arm	Number of genes associated with the disease	Genes associated with the disease
11p	2	TSG101, SLC22A18
14q	2	AKT1, XRCC3
17q	4	BRCA1, BRIP1, PPM1D, PHB
2q	2	BARD1, CASP8
8q	2	RB1CC1, NBN

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By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
2	2	BARD1, CASP8
6	2	NQO2, ESR1
8	2	RB1CC1, NBN
11	3	TSG101, SLC22A18, ATM
14	2	AKT1, XRCC3
16	2	CDH1, PALB2
17	5	BRCA1, TP53, BRIP1, PPM1D, PHB

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Transcription Factors (TF) annotation from TRRUST

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TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
TSG101	YES	3	REG4, EGFR, MDM2	0
ATM	YES	21	PVR, SP1, CDKN1A, BAX, MCL1, FOXM1, BCL2, FAS, TERF1, IGF1R, TNFRSF10B, SLC2A1, TP53, GADD45A, KLRK1, PMAIP1, DUSP1, CFLAR, VEGFA, HIPK2, MTF1	1	TP53
BRIP1	YES	1	BARD1	1	BARD1
RB1CC1	YES	1	RB1	0
BRCA1	YES	52	ATM, RNASEL, DDIT3, KRT5, JAK2, MAD2L1, IRF7, EGFR, HSPA5, FOS, XPC, STAT2, EGR1, CCND1, AREG, FST, HNRNPA2B1, STAT1, CASR, E2F6, ESR1, SIRT1, DDB2, CDKN1A, KRT18, CXCL1, FOXC1, FOXC2, IFNA1, CDH3, CYP1A1, CTSD, IGF1, KHSRP, CYP19A1, HMGA2, EP300, KRT17, TFF1, STAT3, BRCA2, ASPM, TP63, IGF1R, GADD45A, JAK1, CDKN1B, CCNB1, MYC, VEGFA, IRF9, HIF1A	3	ATM, BRCA2, ESR1
BARD1	YES	1	ESR1	1	ESR1
TP53	YES	159	ATF3, AKT1, UHRF1BP1, TP53, CAV1, EGFR, ALKBH2, PAX5, PRG3, PDGFRB, VCAN, MAD1L1, CTNNB1, ID1, TCEAL1, ESR1, CABLES1, MKI67, BAX, SLC6A6, PERP, MAP4, RASSF1, PIAS3, CDK4, RELA, CYFIP2, SSTR2, PMAIP1, BRCA2, WRN, PTTG1, TBXAS1, BTG3, EZH2, SFN, ANKRD1, REEP5, MYC, BCL2L1, GDF15, MCM7, IGFBP3, BGLAP, GC, HSP90AB1, FGF2, CCNB2, PRKAB1, CARM1, EGR1, THBS1, RB1, DDB1, CCNA2, IFI16, BAI1, OGG1, MCL1, GPNMB, MUC2, TRIM22, GSTP1, RAD51B, AQP3, TYMS, TNFRSF10A, GML, TERT, FDXR, GADD45A, S100B, CDKN1B, CCNB1, CHEK2, BCL3, NME1, PRC1, SIAH1, SLC2A1, MMP1, E2F7, CHUK, POLD1, NKX3-1, RECQL4, ABCB1, CCND1, E2F3, TP53I3, SMAD3, DDB2, BRCA1, HIPK2, BIRC5, DKK1, HRAS, NLRC4, PTEN, VEGFA, FOXO3, ANTXR1, MGMT, FOXM1, UHRF1, CDK2, HR, CHEK1, TCF7L2, ALOX5, APAF1, MDM4, AFP, IGF1R, HNF4A, IER3, CDK1, CASP1, BDKRB2, MDM2, MET, CRYAB, XPO1, MMP2, PTPN13, IPO7, CASP3, ELF4, HSF1, FLT1, FAS, PML, GLI2, EPHA2, DNMT1, CD82, E2F1, CDKN1A, SIVA1, BBC3, PLAGL1, TNFRSF10B, CTSD, ID2, CKM, XPC, NFKB1, TP73, DUSP1, STAT3, BCL2, BTG2, PLK3, CCNA1, PPP2R4, KLF2, APCS, RRM2B, ING1	6	BRCA2, ESR1, TP53, AKT1, BRCA1, CHEK2
ESR1	YES	68	UGT2B15, AR, PELP1, EGFR, FLT1, RET, AVP, NRF1, CDK4, SERPINE1, PGR, FOS, VEGFA, CHAT, RUNX2, ZFHX3, CYP19A1, SERPINB9, TYMS, DCT, CXCL12, PTMA, HTRA2, NR5A2, CD24, HSPB1, CYP1B1, CTNNB1, MMP13, BRCA1, CYP2C19, BLM, OXT, TAC3, CCNA2, ZEB1, CDKN1A, STAT5A, TERT, MDM2, PMAIP1, CYP1A1, RARA, TP53, JUN, CDH1, AMH, CRHBP, MYC, TFF1, E2F1, CRH, KDR, BTG2, BCL2, UGT1A4, TGFA, KRT19, F12, FOXP1, ESRRA, GREB1, CTSD, JUNB, ESR1, YWHAQ, CCND1, CDKN1B	4	BRCA1, ESR1, TP53, CDH1
RAD51	YES	1	HR	0
DNMT1	NO	24	MBD2, BIRC5, IL32, CDKN2A, CDKN2B, TIMP3, CASP8, PROM1, CXCR4, BAG1, TERT, GAD1, TNFRSF10B, CDH1, VEGFA, RELN, EPCAM, MGMT, IL3, KIR2DL3, RUNX3, RB1, BMP2, MSH2	2	CASP8, CDH1

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
TSG101	YES	2	MAZ, TTF2	0
HMMR	YES	1	AR	0
ATM	YES	6	SP1, TWIST2, BTF3, TWIST1, BRCA1, E2F1	1	BRCA1
NQO2	YES	2	SP1, JUND	0
AKT1	YES	7	APC, STAT3, GLI1, AR, TP53, RELA, NFKB1	1	TP53
PPM1D	YES	1	CREB1	0
NBN	YES	2	MYC, SIRT1	0
CDH1	YES	49	AR, MTA2, FOXM1, ZEB2, SNAI1, TWIST2, TWIST1, EZH2, RBBP7, FOXA2, TCF3, LMO2, SPDEF, YBX1, KLF4, MTA1, LCOR, HDAC3, DNMT1, FOXQ1, HOXA7, TCF12, ESR1, SIRT1, WT1, ZEB1, FOSB, SMARCA4, VDR, HDAC1, TFAP2A, RELA, PARP1, HMGA2, NFKB1, KLF8, HDGF, STAT3, GATA3, HDAC2, SNAI2, CBX7, SALL4, RB1, HMGA1, KLF6, ZNF217, SIX1, HIF1A	1	ESR1
CHEK2	YES	2	E2F1, TP53	1	TP53
BRCA1	YES	33	WWP1, RBL2, EZH2, DLX4, CTBP1, SP1, E2F4, ID4, NCOA3, USF2, MTA1, E2F1, FOSL2, RBL1, FOXP3, IFI16, NFE2L2, SP100, TP53, CTCF, EP300, ETS1, E2F6, NR3C1, YY1, JUN, TP53BP1, RB1, HMGA1, ESR1, AHR, CREBBP, FOXA1	2	ESR1, TP53

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
TSG101	TP53	Yes	25	VASP, PABPC1, DAXX, DAPK3, EWSR1, BCR, IQGAP1, VCP, THRB, DNAJB1, CEP55, CDKN1A, MDM2, TP53, EP300, MOV10, CHMP4B, NR3C1, WDR5, STK11, YBX1, UBC, UBE2I, PDLIM7, TSG101
HMMR	BRCA1	Yes	6	BACH1, MAPK1, ITIH5, AURKA, TPX2, BRCA1
ATM	NBN	Yes	33	ATM, ATRIP, MDM2, FANCD2, KAT5, MDC1, RAD50, RFC1, BMI1, MSH6, SKP2, DCLRE1C, ATR, MSH2, RPA1, MCPH1, RBBP8, RPA2, SNW1, BRCA1, DDX1, TOPBP1, TERF1, MRE11A, PRKDC, TERF2, ATF2, NAT2, H2AFX, WRN, BLM, MLH1, XRCC5
ATM	CHEK2	Yes	20	ATM, VHL, ATR, BRCA2, MDM2, MSH2, PRKDC, IL24, ELAVL1, TP53BP1, TP53, MDC1, RAD50, TRIM28, PER3, NR4A1, BRCA1, RNF20, CHEK2, WHSC1L1
ATM	BRCA1	Yes	49	ATM, ATRIP, RELA, CHEK1, FANCD2, SMARCB1, TOPBP1, SMC3, CSNK1D, RAD51, RFC1, PEX5, KAT5, H2AFX, SKP2, DCLRE1C, ATR, MLH1, BRAT1, POLR2A, RPA1, CDK9, RBBP8, FOXO3, MRE11A, NBN, SMC1A, TERF1, HDAC1, PRKDC, TERF2, TP53, MDC1, ABL1, PARP1, HSPA8, MSH6, BRCA1, E2F1, BRCA2, HUWE1, TP53BP1, PPP1CA, BLM, HIF1A, RAD50, CHEK2, MSH2, XRCC5
ATM	BRCA2	Yes	11	ATM, ATR, TP53, SMC3, MCPH1, RPA1, CHEK2, BRCA1, H2AFX, RAD51, FANCD2
ATM	TP53	Yes	58	ATM, WWOX, RELA, MDM2, H2AFX, CHEK1, TP53, KAT5, DAXX, MDC1, RFC1, CSNK1D, CREB1, RPA1, BMI1, RNF20, MSH6, ATR, FOXO3, MSH2, BRCA1, SMAD7, SIRT7, SOCS1, E4F1, RPA2, SNW1, MAPK14, VPRBP, SMARCB1, TOP1, VHL, SPSB1, PPP1CA, HDAC1, PRKDC, CDKN2C, ELAVL1, MED1, NR4A1, TRIM28, ABL1, PARP1, HSPA8, XPC, BANP, CHEK2, PPP1CC, BRCA2, WRN, HUWE1, TP53BP1, KAT8, BLM, RAD51, RRM2B, HIF1A, TAF1
ATM	RAD51	Yes	20	ATM, IL24, BRCA2, ABL1, WRN, H2AFX, MSH2, RPA1, CHEK1, BLM, TP53, MDC1, MCPH1, WHSC1L1, TFF1, NAT2, MSH6, BRCA1, RAD51, FANCD2
AKT1	BRCA1	Yes	42	AR, PIAS1, VCP, PPP2CA, EZH2, PPP1CA, CTBP1, SKP2, COMMD1, YBX1, ITPR1, SMARCC2, NPM1, DNAJB1, SMAD3, CTNNB1, DNMT1, FOXO3, YWHAZ, TOPBP1, ESR1, SMARCB1, PRKDC, HSP90AA1, NFE2L2, PPP1CB, AKT1, EP300, BRCA1, SMARCC1, CREBBP, FANCA, HSPA8, RICTOR, XIAP, MTOR, TUBB, CLK2, ENO1, MAPKAP1, CSNK2A1, PHB2
AKT1	ESR1	Yes	71	DDX5, PIAS1, PTEN, VCP, PRKCZ, PSMC5, TOPBP1, ESR1, FHL1, SRC, EZH2, NSF, EGFR, GNB1, SERPINB5, SFN, PAK1, SKP2, HSP90AA1, CLTC, TSC2, TUBB, KAT6A, YBX1, PA2G4, PPP2CA, MAPKAPK2, SKI, NCOR2, HDAC3, MDM2, SMAD3, STUB1, FOXO1, FOXO4, BRCA1, ALYREF, SIRT1, EPSTI1, CDKN1A, CALM1, CTNNB1, PIAS2, GAPDH, KRT10, PRKDC, SMAD2, ACTB, TRAF6, AKT1, NPM1, PPP2R1A, NCOA4, EP300, PPP1CC, WHSC1L1, FKBP5, PPIA, HSPA8, TBK1, HSPA4, IRS1, PPP1CA, CHUK, HSPB1, TCOF1, TSC1, PIK3CA, EIF4A1, CREBBP, PHB2

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Interactions from BIOGRID - genetic

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
ATM	TP53	Yes	0
NQO2	KRAS	Yes	1	KRAS
BRCA1	RAD51	Yes	0
BRCA1	TP53	No	2	CREBBP, EP300
KRAS	TP53	No	1	EXOSC4
KRAS	CASP8	No	1	NOL3

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Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
TSG101	KRAS	Yes	binding	6	SOS1, EGF, TP53, EGFR, UBC, GRB2
TSG101	TP53	Yes	activation, binding	12	MAP9, RPS27A, MDM2, NR3C1, AR, UBA52, CDKN1A, KRAS, EGFR, UBC, UBB, CEP55
HMMR	TP53	Yes	binding, activation, expression	6	AR, HRAS, AURKA, MTA1, CSNK1A1, CD44
AKT1	CDH1	Yes	activation, binding	80	ZYX, CDH2, FOXM1, SNAI2, POSTN, ACTA1, TP53, SNAI1, RAC1, SMAD4, CAV1, FOXA2, GLI2, SERPINE1, CTGF, FOXO3, EZR, FOS, FGF2, SKP2, PTGS2, IQGAP1, CD44, PDCD4, ITGA6, ITGB4, NFKB1, RHOA, SMAD7, PIK3R1, PIK3CA, RAP1A, HDAC9, SMAD3, CTNNB1, TGFB1, ERBB3, LEP, CDC42, WT1, NOTCH1, STAT5A, RAP1B, GLI1, MDM2, F2R, AR, SLC3A2, IQGAP2, GAB2, IGF1, RPS6KB1, JUN, VAV1, PTEN, SRC, EP300, EFNA1, DLC1, STAT3, SMAD2, FGF13, RPTOR, BCL2, ILK, RICTOR, PRKCZ, MMP9, IGF2, RB1, TJP1, STAT5B, RAC3, EZH2, UBC, IRS2, MYC, CCND1, NOX1, FOXA1
AKT1	BRCA1	Yes	binding	38	AR, TERF1, TOPBP1, TP53, NPM1, BMI1, PCGF2, SKP2, CCND1, RB1, CREB1, STAT5A, SMAD3, CCNA2, CTNNB1, E2F1, SIRT1, CDKN1A, ESR1, HSP90AA1, JUN, ATF2, RELA, SRC, EP300, FANCA, HSPA8, UBE2D1, CREBBP, AURKA, PPP1CA, GADD45A, PIK3R1, HIF1A, CCNB1, UBC, MYC, CDKN1B
AKT1	KRAS	Yes	activation, binding	40	BCL2L1, PTPN11, TP53, SPHK1, NPM1, PIK3CG, LGALS3, VEGFA, YWHAB, HSP90AA1, GRB2, ANGPT1, BCL2, CCND1, PIK3CA, ERBB3, RAF1, SOS1, SHC1, AKT2, SLC3A2, HRAS, RALGDS, BTRC, RPS6KB1, JUN, PPP2CA, CTGF, SRC, BCL2L11, MAPK14, NOTCH1, PIK3CB, MTOR, IRS2, UBC, IRS1, PIK3CD, BRAF, MDM4
AKT1	TP53	Yes	binding, activation, expression	139	WWOX, RELA, CAV1, NPM1, HDAC9, VEGFA, FOXO3, HTT, CXCL12, STAT5A, COPS5, MAPK14, BAX, BDNF, JUN, NR4A1, FOXM1, MMP9, MTOR, MCL1, YWHAG, ESR1, KAT2B, BCL2L1, RUNX2, YWHAE, IGFBP3, SERPINE1, FGF2, STUB1, PTGS2, PIAS2, EGR1, PARK7, THBS1, RB1, CAT, CCNA2, SFN, TSC2, GAPDH, AR, CDH1, ANKRD2, HSP90AA1, LGALS3, AURKA, TERT, MMP2, GADD45A, S100B, MDM4, CCNB1, UBC, HIF1A, SP7, MMP1, SLC2A4, SMAD4, BTRC, CREB1, CFLAR, HSPA5, FOS, NCOR1, PHB, NOS3, PHF20, GDF15, NFKB1, CCND1, CD44, KRAS, BMI1, AXIN1, SMAD3, RAF1, BRCA1, SIRT1, WT1, BIRC5, FOXO1, HSPB3, HRAS, NOTCH1, SMAD2, NFE2L2, PTEN, PPP2R1A, ICAM1, EP300, SHH, UBE2D1, CHEK1, EZH2, RUNX3, APAF1, HMOX1, CDC25C, PTPN11, MDM2, HSPB2-C11ORF52, SNAI1, TOPBP1, SNAI2, WEE1, BAIAP2L1, UBB, RPS27A, BCL2, SMAD7, PPP2R4, PIK3CA, CLU, DNMT1, SKP2, TGFB1, PPP2R5C, YWHAZ, CDKN1A, SERPINH1, TRAF6, STAT5B, CTGF, PARP1, GSK3B, MYC, STAT3, HSPA8, POLI, CREBBP, HSPA4, IKBKB, YBX1, IL6, ATIC, LEP, MAP3K8, PDCD4
AKT1	ESR1	Yes	activation, binding	84	MYC, AR, PELP1, PTEN, MDM2, RRAS2, RAC3, EZH2, CDKN1A, TP53, NOS3, SRC, CAV1, MAPK14, ATF2, SOS1, GNB1, CTGF, NRIP1, HDAC9, FOS, VEGFA, STUB1, PHB, GNAI3, PTGES3, FOXO3, RXRG, FOXM1, STRN, GNAO1, GNAI1, CXCL12, MAPT, HDAC3, PIK3CA, NCOR2, STAT5A, SMAD3, NCOR1, SMAD2, COPS5, SHC1, FOXO4, SIRT1, TSC2, AKT2, FOXO1, SOD1, GAPDH, TERT, STAT3, RARA, MYOD1, HSP90AA1, JUN, NR4A1, SMAD4, RELA, RHOA, PARP1, PAK1, EP300, BRCA1, E2F1, FKBP5, FKBP4, HSPA8, CREBBP, HSPA4, SNAI2, FASN, HEXIM1, INS, IL6, PIK3R1, GNAZ, IGF1, UBC, IRS1, GRB2, LEP, CCND1, FOXA1
AKT1	PHB	Yes	binding, ptmod	9	RAF1, TP53, RB1, NCOR1, ESR1, UBC, E2F1, VDAC1, YWHAZ
AKT1	PIK3CA	Yes	activation, binding	108	ITGB3, PTEN, PLCG1, TP53, CDC42, SOS1, RAP1A, PDGFB, ACTN4, PDGFRB, ACTA1, CTNNB1, GNGT1, BECN1, BDNF, PIK3CB, RELA, CBLB, RELN, IL2, RRAS2, MTOR, INS, JAK1, PIK3R5, GNB1, ESR1, VAV2, FLT3, BCL2L1, AKT2, ITGA2B, RPTOR, PGF, ANGPT2, ITGA6, RHOA, PREX1, PIK3R1, BCR, RPS6KB2, APPL1, IGF1, PTPN1, CDH1, PIK3R3, PDPK1, ITGB4, GRB2, GAB1, PIK3CD, ZYX, PELP1, VLDLR, AR, CSK, TPTE2, RAP1B, DAB1, INSR, GSK3B, CCND1, CREB1, SMAD3, RAF1, ERBB3, TPTE, LCK, HRAS, NOTCH1, GAB2, DOK1, CDH2, VEGFA, RAC1, RICTOR, PRKCZ, GNAI3, CASP9, IL2RB, EFNA1, RAC3, PTPN11, MAP3K5, PIK3CG, GNAI1, DAB2IP, ANGPT1, RRAS, SHC1, YWHAZ, CSF2, TSC1, S1PR1, SLC9A3R1, SMAD2, SRC, NFKB1, MYC, STAT3, KRAS, IL3, ARF6, RPS6KB1, IRS1, VAV1, IRS2, LAT

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Interactions from CORUM

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Gene1	Gene2	Direct Interaction	Complexes	Number of shared interactors	Shared genes in interaction
ATM	NBN	Yes	MDC1-MRN-ATM-FANCD2 complex;ATM-NBS1 complex;BASC complex (BRCA1-associated genome surveillance complex)	13	ATM, FANCD2, RFC2, MSH2, MSH6, MDC1, BLM, MRE11A, RFC1, RFC4, RAD50, BRCA1, MLH1
ATM	BRCA1	Yes	BASC (Ab 81) complex (BRCA1-associated genome surveillance complex);BASC complex (BRCA1-associated genome surveillance complex)	11	ATM, NBN, MSH2, MRE11A, MSH6, RFC1, BLM, RAD50, RFC4, RFC2, MLH1
BRIP1	BRCA1	Yes	BRCA1-BACH1 complex	0
FAM175A	BRCA1	Yes	BRCA1 A complex	2	UIMC1, BARD1
FAM175A	BARD1	Yes	BRCA1 A complex	2	BRCA1, UIMC1
NBN	BRCA1	Yes	BRCA1-BARD1-BACH1-DNA damage complex II;BRCA1-RAD50-MRE11-NBS1 complex;BASC complex (BRCA1-associated genome surveillance complex)	15	ATM, TOPBP1, RFC2, BACH1, MLH1, BARD1, TRRAP, RFC1, MRE11A, BLM, RBBP8, RFC4, RAD50, MSH6, MSH2
NBN	BARD1	Yes	BRCA1-BARD1-BACH1-DNA damage complex II	9	TOPBP1, BACH1, MRE11A, XRCC6, RBBP8, RAD50, MSH6, BRCA1, MLH1
BRCA1	BRCA2	Yes	BRCC complex;BRCA1-BARD1-BRCA2-DNA damage complex III	6	BRE, HDAC2, HDAC1, BARD1, BRCC3, RAD51
BRCA1	BARD1	Yes	BARD1-BRCA1-CSTF64 complex;BRCA1-BARD1-UbcH7c complex;HUIC complex;BRCA1-BARD1-POLR2A complex;BARD1-BRCA1-CSTF complex;BRCA1-BARD1-BRCA2-DNA damage complex III;BRCA1 B complex;BRCA1-BARD1-BACH1-DNA damage complex II;BRCA1 C complex;BRCA1-BARD1-UbcH5c complex;BRCA1-BARD1-BACH1-DNA damage complex I;BRCA1 A complex	17	NBN, TOPBP1, BRCA2, BACH1, MRE11A, UIMC1, UBE2L3, CSTF3, FAM175A, POLR2A, RBBP8, UBE2D3, RAD50, CSTF2, MSH6, MLH1, CSTF1
BRCA1	RAD51	Yes	BRCC complex;BRCA1-RAD51 complex	6	BRE, BRCA2, MSH2, BLM, MSH6, BRCC3

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Interactions from CENSUS

Interactions from PDB

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Gene1	Gene2	Interaction	Number of common interactors	Common genes in interaction
BRIP1	BRCA1	Yes	2	BRCA1, BRIP1
FAM175A	BRCA1	Yes	2	FAM175A, BRCA1
BRCA1	BARD1	Yes	2	BRCA1, BARD1
BRCA2	PALB2	Yes	2	PALB2, BRCA2
BRCA2	RAD51	Yes	2	BRCA2, RAD51
BRIP1	FAM175A	No	1	BRCA1
BRIP1	BARD1	No	1	BRCA1
FAM175A	BARD1	No	1	BRCA1
PALB2	RAD51	No	1	BRCA2

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Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from manually curated literature

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Gene1	Gene2	Direct interaction	More information
CHEK2	TP53	yes, they interact	TP53 is phosphorylated on Ser-20 by CHEK2 in response to DNA damage. [UniProt]

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KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

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KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Homologous recombination	hsa03440	7.91	5	NBN, RAD54L, BRCA2, RAD51, XRCC3
Thyroid cancer	hsa05216	7.48	3	KRAS, TP53, CDH1
Aldosterone-regulated sodium reabsorption	hsa04960	7.41	2	KRAS, PIK3CA
Bladder cancer	hsa05219	7.38	3	KRAS, TP53, CDH1
Carbohydrate digestion and absorption	hsa04973	7.28	2	PIK3CA, AKT1
Fanconi anemia pathway	hsa03460	7.01	5	BRCA2, BRCA1, BRIP1, PALB2, RAD51
Non-small cell lung cancer	hsa05223	6.88	4	TP53, AKT1, KRAS, PIK3CA
Endometrial cancer	hsa05213	6.81	5	TP53, KRAS, AKT1, CDH1, PIK3CA
VEGF signaling pathway	hsa04370	6.77	3	KRAS, AKT1, PIK3CA
Acute myeloid leukemia	hsa05221	6.74	3	KRAS, PIK3CA, AKT1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Homologous recombination (hsa03440)	-	7.91	0.0	NBN, BRCA2, XRCC3, CHEK2, RAD54L, RAD51
Thyroid cancer (hsa05216)	-	7.48	0.002	TP53, ESR1, KRAS, CDH1
Bladder cancer (hsa05219)	-	7.38	0.003	TP53, KRAS, AKT1, CDH1
Type II diabetes mellitus (hsa04930)	NEW	7.12	0.018	ESR1, TP53, AKT1, PIK3CA
Fanconi anemia pathway (hsa03460)	-	7.01	0.0	BRCA2, PALB2, BRCA1, BRIP1, CHEK2, RAD51
Non-small cell lung cancer (hsa05223)	-	6.88	0.002	AKT1, TP53, ESR1, KRAS, PIK3CA
NOD-like receptor signaling pathway (hsa04621)	NEW	6.88	0.041	TP53, CASP8, AKT1, TSG101
Endometrial cancer (hsa05213)	-	6.81	0.0	ESR1, TP53, CDH1, KRAS, AKT1, PIK3CA
Acute myeloid leukemia (hsa05221)	-	6.74	0.027	KRAS, ESR1, AKT1, PIK3CA
Central carbon metabolism in cancer (hsa05230)	-	6.7	0.001	TP53, KRAS, AKT1, PIK3CA, CDH1

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REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
ATM mediated response to DNA double-strand break	R-HSA-83542	10.66	3	ATM, NBN, BRCA1
ATM mediated phosphorylation of repair proteins	R-HSA-75148	10.66	3	ATM, NBN, BRCA1
Presynaptic phase of homologous DNA pairing and strand exchange	R-HSA-76003	10.4	2	BRCA2, RAD51
Homologous DNA Pairing and Strand Exchange	R-HSA-76010	10.18	3	BRCA2, BRIP1, RAD51
Recruitment of repair and signaling proteins to double-strand breaks	R-HSA-75154	9.98	3	ATM, NBN, BRCA1
Signaling by FGFR4 in disease	R-HSA-5655291	9.52	2	KRAS, PIK3CA
Constitutive Signaling by EGFRvIII	R-HSA-5637810	9.08	2	KRAS, PIK3CA
Signaling by EGFRvIII in Cancer	R-HSA-5637812	9.08	2	KRAS, PIK3CA
Homologous recombination repair of replication-independent double-strand breaks	R-HSA-73951	8.98	6	ATM, NBN, BRCA2, BRCA1, BRIP1, RAD51
Homologous Recombination Repair	R-HSA-73888	8.98	6	ATM, NBN, BRCA2, BRCA1, BRIP1, RAD51

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
ATM mediated response to DNA double-strand break (R-HSA-83542)	-	10.66	0.0	ATM, NBN, BRCA1
ATM mediated phosphorylation of repair proteins (R-HSA-75148)	-	10.66	0.0	ATM, NBN, BRCA1
Presynaptic phase of homologous DNA pairing and strand exchange (R-HSA-76003)	-	10.4	0.03	BRCA2, RAD51
Homologous DNA Pairing and Strand Exchange (R-HSA-76010)	-	10.18	0.0	BRCA2, BRIP1, RAD51
Recruitment of repair and signaling proteins to double-strand breaks (R-HSA-75154)	-	9.98	0.0	ATM, NBN, BRCA1
Homologous recombination repair of replication-independent double-strand breaks (R-HSA-73951)	-	8.98	0.0	ATM, NBN, BRCA2, BRCA1, BRIP1, RAD51
Homologous Recombination Repair (R-HSA-73888)	-	8.98	0.0	ATM, NBN, BRCA2, BRCA1, BRIP1, RAD51
Signaling by FGFR3 in disease (R-HSA-5655332)	-	8.52	0.018	KRAS, PIK3CA, CDH1
Double-Strand Break Repair (R-HSA-73890)	-	8.46	0.0	ATM, NBN, BRCA2, BRCA1, BRIP1, RAD51
Fanconi Anemia pathway (R-HSA-419524)	-	8.4	0.0	ATM, BRCA1, BRCA2, PALB2

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GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
nitric-oxide synthase regulator activity (GO:0030235)	7.79	2	ESR1, AKT1
recombinase activity (GO:0000150)	7.66	2	RAD51, XRCC3
GTPase activating protein binding (GO:0032794)	7.1	2	AKT1, CDH1
four-way junction DNA binding (GO:0000400)	7.03	2	RAD51, XRCC3
DNA secondary structure binding (GO:0000217)	6.6	2	RAD51, XRCC3
protein phosphatase 2A binding (GO:0051721)	6.41	2	TP53, AKT1
ATP-dependent DNA helicase activity (GO:0004003)	6.13	2	NBN, BRIP1
1-phosphatidylinositol-3-kinase activity (GO:0016303)	5.98	2	ATM, PIK3CA
endodeoxyribonuclease activity (GO:0004520)	5.81	2	RAD51, XRCC3
phosphatidylinositol kinase activity (GO:0052742)	5.81	2	ATM, PIK3CA

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
nitric-oxide synthase regulator activity (GO:0030235)	-	7.79	0.006	ESR1, AKT1
oxidoreductase activity, acting on CH or CH2 groups (GO:0016725)	NEW	7.44	0.004	BARD1, ESR1, AKT1
gamma-tubulin binding (GO:0043015)	NEW	6.56	0.021	BARD1, BRCA1, BRCA2
1-phosphatidylinositol-3-kinase activity (GO:0016303)	-	5.98	0.019	ATM, PIK3CA
receptor regulator activity (GO:0030545)	NEW	5.91	0.029	TP53, ESR1, AKT1, CDH1
tumor necrosis factor receptor superfamily binding (GO:0032813)	NEW	5.89	0.004	ATM, CASP8, TP53, AKT1
phosphatidylinositol kinase activity (GO:0052742)	-	5.81	0.044	ATM, PIK3CA
intramolecular oxidoreductase activity (GO:0016860)	NEW	5.75	0.018	PHB, KRAS, AKT1, ESR1
cysteine-type endopeptidase inhibitor activity (GO:0004869)	NEW	5.71	0.001	TP53, CASP8, ESR1, AKT1, CDH1
calcium-dependent protein binding (GO:0048306)	NEW	5.68	0.001	TP53, KRAS, AKT1, TSG101, PIK3CA

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GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
mitotic recombination-dependent replication fork processing (GO:1990426)	9.04	2	BRCA2, RAD51
chromosome breakage (GO:0031052)	8.34	3	BRCA1, BRCA2, PALB2
response to indole-3-methanol (GO:0071680)	8.12	2	BRCA1, CDH1
cellular response to indole-3-methanol (GO:0071681)	8.12	2	BRCA1, CDH1
negative regulation of telomere capping (GO:1904354)	8.12	2	ATM, NBN
response to glycoside (GO:1903416)	7.94	2	CHEK2, RAD51
strand invasion (GO:0042148)	7.78	2	RAD51, XRCC3
DNA damage induced protein phosphorylation (GO:0006975)	7.65	2	ATM, CHEK2
protein K6-linked ubiquitination (GO:0085020)	7.65	2	BRCA1, BARD1
DNA strand renaturation (GO:0000733)	7.53	2	RAD54L, TP53

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
purine ribonucleoside triphosphate catabolic process (GO:0009207)	NEW	9.73	0.002	PHB, ATM, XRCC3, KRAS, BRCA2, ESR1, TP53, CDH1, PIK3CA, AKT1, BRIP1, RAD51
ribonucleoside triphosphate catabolic process (GO:0009203)	NEW	9.73	0.002	ATM, PHB, XRCC3, KRAS, BRCA2, ESR1, TP53, CDH1, PIK3CA, AKT1, BRIP1, RAD51
trigeminal nerve development (GO:0021559)	NEW	8.34	0.0	CHEK2, ESR1, TP53
purine ribonucleoside monophosphate catabolic process (GO:0009169)	NEW	8.12	0.005	PHB, ATM, BRCA2, XRCC3, TP53, ESR1, BRCA1, BRIP1, RAD51
response to indole-3-methanol (GO:0071680)	-	8.12	0.029	BRCA1, CDH1
cellular response to indole-3-methanol (GO:0071681)	-	8.12	0.029	BRCA1, CDH1
mammary gland branching involved in thelarche (GO:0060744)	NEW	8.12	0.002	ESR1, TP53, AKT1
ribonucleoside monophosphate catabolic process (GO:0009158)	NEW	8.12	0.005	PHB, ATM, BRCA2, XRCC3, TP53, ESR1, BRCA1, BRIP1, RAD51
purine nucleoside triphosphate catabolic process (GO:0009146)	NEW	7.94	0.002	PHB, ATM, XRCC3, KRAS, BRCA2, ESR1, TP53, CDH1, PIK3CA, AKT1, BRIP1, RAD51
purine nucleoside monophosphate catabolic process (GO:0009128)	NEW	7.94	0.005	PHB, ATM, BRCA2, XRCC3, TP53, ESR1, BRCA1, BRIP1, RAD51

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GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

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GO	IC	Number of genes with the same GO	Genes
BRCA1-BARD1 complex (GO:0031436)	9.11	2	BRCA1, BARD1
BRCA1-A complex (GO:0070531)	7.86	3	FAM175A, BRCA1, BARD1
replication fork (GO:0005657)	6.62	3	NBN, TP53, XRCC3
site of double-strand break (GO:0035861)	6.37	2	NBN, RAD51
condensed nuclear chromosome (GO:0000794)	6.11	2	BRCA1, RAD51
nuclear ubiquitin ligase complex (GO:0000152)	6.06	2	BRCA1, BARD1
condensed chromosome (GO:0000793)	5.64	2	BRCA1, RAD51
inclusion body (GO:0016234)	5.55	2	NBN, CDH1
nuclear chromosome (GO:0000228)	5.55	2	BRCA1, RAD51
PML body (GO:0016605)	5.24	4	NBN, CHEK2, RAD51, TP53

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
BRCA1-BARD1 complex (GO:0031436)	-	9.11	0.0	BRCA1, BARD1
perichromatin fibrils (GO:0005726)	NEW	8.7	0.008	BRCA1, TP53
BRCA1-A complex (GO:0070531)	-	7.86	0.0	FAM175A, BRCA1, BARD1
pronucleus (GO:0045120)	NEW	7.03	0.004	ATM, TP53, AKT1
replication fork (GO:0005657)	-	6.62	0.001	NBN, TP53, XRCC3
mitotic spindle (GO:0072686)	NEW	6.09	0.026	ESR1, TP53, CDH1
nuclear ubiquitin ligase complex (GO:0000152)	-	6.06	0.018	BRCA1, BARD1, CDH1
organelle envelope lumen (GO:0031970)	NEW	5.41	0.028	TP53, ESR1, KRAS, AKT1
PML body (GO:0016605)	-	5.24	0.001	ATM, NBN, ESR1, TP53, AKT1, CHEK2, RAD51
endocytic vesicle (GO:0030139)	NEW	5.04	0.001	TSG101, KRAS, TP53, AKT1, PIK3CA, RAD51

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