Disease table of 46,XY SEX REVERSAL OMIM ID: PS400044

Gene-disease associations table

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Gene	Associated with 46,XY SEX REVERSAL in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AKR1C2	ClinVar, OMIM, HUMSAVAR	HGNC link	10p15.1	1	PS400044
AKR1C4	ClinVar, OMIM	HGNC link	10p15.1	1	PS400044
CBX2	ClinVar, OMIM, HUMSAVAR	HGNC link	17q25.3	1	PS400044
DHH	OMIM, HUMSAVAR	HGNC link	12q13.12	2	607080, PS400044
MAP3K1	ClinVar, OMIM, HUMSAVAR	HGNC link	5q11.2	1	PS400044
NR0B1	ClinVar, OMIM	HGNC link	Xp21.2	2	PS400044, 300200
NR5A1	ClinVar, OMIM, HUMSAVAR	HGNC link	9q33.3	3	PS258150, 612964, PS400044
SRY	ClinVar, OMIM, HUMSAVAR	HGNC link	Yp11.2	2	400045, PS400044
ZFPM2	ClinVar, OMIM, HUMSAVAR	HGNC link	8q22.3	4	187500, 610187, PS400044, 217095

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Relations among genes:

Tandem repeat annotations from DGD

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Common tandem group	Number of genes in this tandem group associated to this disease	Genes in this tandem group associated to this disease
Group 455	2	AKR1C2, AKR1C4

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Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
10p15.1	2	AKR1C2, AKR1C4

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
10p15	2	AKR1C2, AKR1C4

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
10p1	2	AKR1C2, AKR1C4

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
10p	2	AKR1C2, AKR1C4

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
10	2	AKR1C2, AKR1C4

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
NR0B1	YES	11	NR5A1, CYP19A1, NR1H4, STAR, CYP17A1, PBX1, CAMP, ESRRG, HNF4A, AMH, NOS1	1	NR5A1
NR5A1	YES	22	HSD3B1, PNRC1, CYP2B6, NR0B1, POU5F1, CYP19A1, CYP11B1, STAR, PBX1, HSD3B2, FSHR, INSL3, LHB, NOV, AMH, SRY, STARD7, MC2R, CYP17A1, CYP11A1, CYP11B2, CITED2	2	SRY, NR0B1
SRY	YES	5	PROM1, NFKBIB, SOX9, WDR5, ETV2	0
WT1	NO	51	MYC, NR5A1, CTGF, AR, CD97, TBXA2R, MYB, EGFR, HBEGF, DNMT3A, ITGAX, CCNE1, ABCB1, EREG, THBS1, CIAO1, NOV, NDRG2, SMAD3, CD14, SNAI2, NPHS1, CDKN1A, PDGFA, TERT, IRF8, VDR, PODXL, CDH1, STIM1, JUN, CKM, AMH, CYP19A1, VEGFA, VEGFB, ODC1, ETS1, KLK3, JUNB, BCL2, IGF1R, PAX2, IGF2, IL2RB, MYCN, IGF1, SRY, UBE2I, CX3CL1, CAMP	2	SRY, NR5A1
SP1	NO	460	ITGB3, KRT14, CDK4, UGCG, PGR, GAST, PSIP1, ITGA5, PTHLH, ITGB2, CD44, HLA-G, LTF, IGFBP4, NF1, ACVRL1, GSTP1, CYP2F1, CA9, MMRN1, HSD17B2, STK11, FGFR3, CD28, UGT1A4, FASLG, DNASE2, KRT19, SLC39A1, ALOX5, PDGFB, PTGS2, CYP7A1, TNF, TPMT, HSD11B2, FMR1, CHI3L1, PCK1, DMRT1, RARA, RASSF1, CYP3A7, BRD7, CYP17A1, LPL, CXADR, PADI3, ABCA1, NR5A1, COL11A2, IRF5, XIAP, BACE1, STAR, TBX21, BSG, APP, MDM2, COMP, ALOX12, CHRNB4, SNAP25, MTA1, CCK, DDB2, CIC, ACAN, KIT, MAT2A, SERPINB5, CDH2, ICAM1, SLC29A1, USP7, SLC5A8, HTR1A, REST, IGF2, APOC3, APAF1, ABCG2, IFNGR1, CRMP1, SLC7A5, PDGFC, HNF4A, ATP2C1, MICA, EAPP, TNFRSF10B, KRT5, MACROD1, ERVW-1, CD151, ELF4, MMP28, POLD2, DNMT1, MAOB, CBS, E2F1, KCNQ3, COL18A1, HIST2H4A, RPS3A, IL10, C4A, CYP3A5, ST6GAL1, CD99, BCL2, SLC15A1, IL6, ADAM10, KRT16, POLE2, MUC6, CBFB, ACO1, DCK, CAV1, MIF, DNMT3A, HMGA2, PDIA2, B4GALT1, GJA1, PPL, SLC13A4, AGTR1, PTGIR, CETP, SLC2A2, CYP27A1, F2R, BLMH, ADIPOQ, CENPH, OPRM1, BAG2, MPO, WRN, CDK6, PTTG1, YY1, CD2AP, TBXA2R, TGM4, PRSS50, HSD17B11, HCN2, MYCN, F3, ID4, CDKN1A, SLC5A1, SERPINE1, C1QBP, SOX3, EGR1, TF, RETN, SYP, RORA, NDUFV1, C4B, SNAPC1, TGFBR2, MME, GATA3, DPYSL2, CXCL14, SPRY2, ABCB8, COX4I1, SCTR, UGDH, HBEGF, PLAT, FOS, XPC, MUC5AC, HYAL1, BRCA1, NOS1, KCTD11, HCN4, ASPN, OXTR, COL1A1, TLR2, ALOX15B, ITGAV, IL5, SLC9A2, SIRT1, FGL2, KLF8, KCNQ2, UGT2B15, FOXM1, TEC, CHST4, TINF2, SLC19A3, KIF2C, ADAM23, PTGES, DNMT3B, GCLC, THBD, GFER, ADRBK1, TGFB1, SLC25A20, TK1, PRM1, CXCL1, APOE, PDE6A, TICAM1, KCNH2, TERF2, CENPW, NFKB1, ITGA2, PCYT1A, SIGIRR, IRS2, SP3, GIPR, SCNN1B, PTN, PTEN, NDUFV2, INSR, AGT, ME1, ATP2A2, HAS2, CYP19A1, HTT, MAT2B, PRNP, MNDA, SLC9A3, ADAM17, BAX, SLC3A2, UTRN, SPN, PAX6, SMARCA1, IL2, CREM, MMP9, ENG, CHGA, MUC4, ESR1, AHR, ATM, NFKB2, COL7A1, CD97, EPO, TFPI2, POR, DRG2, ELMO3, CAT, CYP3A4, LOXL4, BDKRB1, WAS, PNOC, LDHC, ADH6, CDC42BPG, NKX2-1, CYP1B1, TAF7, PLAUR, MMP2, MMP11, APLNR, UBC, GM2A, FGFR1, PLAA, TIMP1, TNFSF14, PTK6, KISS1, CDKN2B, COL2A1, BTK, ITGAX, HBZ, CREB1, MMP14, MICB, LEP, FOLR1, ATP2A3, SNRPN, ADA, PSEN1, SPP1, TNNI3, NOL7, VEGFA, CSNK2A1, VAMP2, NQO2, LOR, EPOR, HSD3B1, ISG20, MET, F10, CD1D, FBLN1, APLP1, CCL5, FAS, ERBB2, COPS5, MYBL1, RECQL4, CD83, SOD1, HOXB7, WIF1, SLC39A8, CES1, IL5RA, APEX1, ITGAD, TNC, KDR, CLDN3, NR4A1, MYC, RELA, RECK, PGLYRP2, LRP5, MYBL2, ADRA2B, VIM, EGFR, GDA, SOD2, FES, LDHA, CD14, AMACR, IGFBP1, SLC19A1, IMPDH2, PDE6B, LCAT, PPP2R2B, FBN1, CERS2, EPAS1, KLK3, FLNA, CCL2, HMGA1, BACE2, EDNRB, FABP6, HPR, IGFBP3, PON1, APOA1, NPY, B4GALT5, FXR2, CCND2, STARD3, IL2RB, DDB1, SQSTM1, TERT, HGF, TNFSF10, KRT18, TYMP, MUC2, MPG, ABCC3, HDAC4, TCN2, TYMS, DBF4, CASP3, SGPL1, GH2, EGF, CCND1, GPR39, IVL, AR, NT5E, LYZ, SMPD1, PHGDH, CDKN2A, MGST1, CCNA2, POLD1, NOS3, ABCB1, DHCR24, LDLR, HSD17B1, SOCS1, FBP1, LTC4S, CTSL, BIRC5, HRAS, PDHA1, TIMP2, P4HA1, TMPO, ARF6, CDKN1B, SLC31A1, SOX9, PLAU, RGN, CTSB, EZR, TIMP3, F7, SREBF1, SKP2, SCT, VDR, ADRB3, CXCL5, LMO4, CD163, MCTS1, ATF2, CTGF, SRC, P2RX4, TGFA, IL3, CYP7B1, ADRA1A, GRIN1, SRY, ODC1	2	SRY, NR5A1

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
NR0B1	YES	6	SF1, STAT3, NR5A1, ESRRG, EWSR1, POU5F1	1	NR5A1
MAP3K1	YES	2	JUN, ATF2	0
NR5A1	YES	5	SP1, WT1, SOX9, NR0B1, USF2	1	NR0B1
AKR1C4	YES	3	HNF4G, HNF1A, HNF4A	0
SRY	YES	4	SP1, WT1, TFCP2, NR5A1	1	NR5A1
AKR1C2	YES	2	TWIST2, TWIST1	0
STAR	NO	14	SP1, SF1, NR5A1, NR5A2, CREM, CEBPA, FOXL2, CLOCK, CEBPB, JUN, NR4A1, NR0B1, GATA4, FOS	2	NR5A1, NR0B1
CYP17A1	NO	12	SP1, NR5A1, PIAS1, GATA4, GATA6, NFIC, NR2F1, NR4A1, CREB1, NR0B1, SP3, SMAD3	2	NR5A1, NR0B1
AMH	NO	10	WT1, SF1, NR5A1, ESR1, SOX9, VDR, RELA, NR0B1, GATA4, NFKB1	2	NR5A1, NR0B1
PBX1	NO	2	NR5A1, NR0B1	2	NR5A1, NR0B1

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
NR0B1	NR5A1	Yes	1	NRIP1
AKR1C4	AKR1C2	Yes	2	AKR1C2, AKR1C3
ZFPM2	NR5A1	No	1	GATA4
NR0B1	SRY	No	1	AR
MAP3K1	NR5A1	No	2	UBE2I, JUN
NR5A1	SRY	No	1	SP1

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

Interactions from BIOGRID - genetic

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
ZFPM2	SRY	Yes	activation, binding	1	GATA4
NR0B1	NR5A1	Yes	activation, binding	11	WT1, AR, NRIP1, NANOG, ESR2, NR4A1, ESR1, CYP19A1, PGR, CTNNB1, PPARA
NR5A1	SRY	Yes	expression, binding	4	WT1, AR, GATA4, CTNNB1
DHH	NR0B1	No	-	1	WNT4
ZFPM2	NR5A1	No	-	2	SRY, GATA4
ZFPM2	CBX2	No	-	1	RBBP4
NR0B1	MAP3K1	No	-	1	ESR1
NR0B1	SRY	No	-	4	WT1, AR, NR5A1, CTNNB1
MAP3K1	NR5A1	No	-	2	JUN, ESR1

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

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

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
Steroid hormone biosynthesis	hsa00140	6.93	2	AKR1C4, AKR1C2
Metabolism of xenobiotics by cytochrome P450	hsa00980	6.48	2	AKR1C4, AKR1C2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Steroid hormone biosynthesis (hsa00140)	-	6.93	0.0	AKR1C4, AKR1C2, NR5A1, NR0B1
Metabolism of xenobiotics by cytochrome P450 (hsa00980)	-	6.48	0.011	AKR1C4, AKR1C2, NR5A1
Xenobiotics biodegradation and metabolism	NEW	5.92	0.047	AKR1C4, AKR1C2, NR5A1

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REACTOME pathways annotation: shared terms / NET-GE enrichment

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REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Synthesis of bile acids and bile salts via 24-hydroxycholesterol	R-HSA-193775	9.18	2	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts via 27-hydroxycholesterol	R-HSA-193807	9.08	2	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol	R-HSA-193368	8.4	2	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts	R-HSA-192105	8.23	2	AKR1C4, AKR1C2
Bile acid and bile salt metabolism	R-HSA-194068	7.85	2	AKR1C4, AKR1C2
Nuclear Receptor transcription pathway	R-HSA-383280	7.31	2	NR5A1, NR0B1
Generic Transcription Pathway	R-HSA-212436	3.86	2	NR5A1, NR0B1
Metabolism of lipids and lipoproteins	R-HSA-556833	3.79	2	AKR1C4, AKR1C2
Gene Expression	R-HSA-74160	2.72	2	NR5A1, NR0B1
Metabolism	R-HSA-1430728	2.34	2	AKR1C4, AKR1C2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
Synthesis of bile acids and bile salts via 24-hydroxycholesterol (R-HSA-193775)	-	9.18	0.006	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts via 27-hydroxycholesterol (R-HSA-193807)	-	9.08	0.007	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol (R-HSA-193368)	-	8.4	0.017	AKR1C4, AKR1C2
Synthesis of bile acids and bile salts (R-HSA-192105)	-	8.23	0.022	AKR1C4, AKR1C2
Bile acid and bile salt metabolism (R-HSA-194068)	-	7.85	0.037	AKR1C4, AKR1C2

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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
(GO:0047023)	8.35	2	AKR1C4, AKR1C2
aldo-keto reductase (NADP) activity (GO:0004033)	6.48	2	AKR1C4, AKR1C2
steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0033764)	6.48	2	AKR1C4, AKR1C2
steroid dehydrogenase activity (GO:0016229)	6.34	2	AKR1C4, AKR1C2
transcription factor activity, direct ligand regulated sequence-specific DNA binding (GO:0098531)	5.87	2	NR5A1, NR0B1
RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding (GO:0004879)	5.87	2	NR5A1, NR0B1
steroid hormone receptor activity (GO:0003707)	5.66	2	NR5A1, NR0B1
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)	5.66	2	AKR1C4, AKR1C2
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding (GO:0003705)	5.23	2	SRY, NR5A1
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	5.13	2	AKR1C4, AKR1C2

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
aldo-keto reductase (NADP) activity (GO:0004033)	-	6.48	0.02	AKR1C4, AKR1C2
direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)	-	5.87	0.038	NR5A1, NR0B1
ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)	-	5.87	0.038	NR5A1, NR0B1
steroid binding (GO:0005496)	NEW	5.24	0.035	NR5A1, AKR1C2, NR0B1
oxidoreductase activity, acting on NAD(P)H (GO:0016651)	-	5.13	0.015	AKR1C4, AKR1C2, MAP3K1
oxidoreductase activity (GO:0016491)	-	3.12	0.018	AKR1C2, MAP3K1, AKR1C4, NR5A1, NR0B1, CBX2

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

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GO	IC	Number of genes with the same GO	Genes
(GO:0009753)	8.34	2	AKR1C4, AKR1C2
negative regulation of female gonad development (GO:2000195)	8.34	2	ZFPM2, NR5A1
(GO:0071395)	8.34	2	AKR1C4, AKR1C2
positive regulation of male gonad development (GO:2000020)	7.65	3	SRY, ZFPM2, NR5A1
(GO:0044597)	7.65	2	AKR1C4, AKR1C2
(GO:0044598)	7.65	2	AKR1C4, AKR1C2
regulation of male gonad development (GO:2000018)	7.53	3	SRY, ZFPM2, NR5A1
aminoglycoside antibiotic metabolic process (GO:0030647)	7.53	2	AKR1C4, AKR1C2
polyketide metabolic process (GO:0030638)	7.53	2	AKR1C4, AKR1C2
Leydig cell differentiation (GO:0033327)	7.33	2	DHH, NR0B1

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
response to jasmonic acid (GO:0009753)	-	8.34	0.001	AKR1C4, AKR1C2
negative regulation of female gonad development (GO:2000195)	-	8.34	0.001	ZFPM2, NR5A1
cellular response to jasmonic acid stimulus (GO:0071395)	-	8.34	0.001	AKR1C4, AKR1C2
Sertoli cell differentiation (GO:0060008)	NEW	7.94	0.0	SRY, NR5A1, NR0B1
doxorubicin metabolic process (GO:0044598)	-	7.65	0.003	AKR1C4, AKR1C2
daunorubicin metabolic process (GO:0044597)	-	7.65	0.003	AKR1C4, AKR1C2
positive regulation of male gonad development (GO:2000020)	-	7.65	0.0	SRY, ZFPM2, NR5A1
aminoglycoside antibiotic metabolic process (GO:0030647)	-	7.53	0.003	AKR1C4, AKR1C2
regulation of male gonad development (GO:2000018)	-	7.53	0.0	SRY, ZFPM2, NR5A1
polyketide metabolic process (GO:0030638)	-	7.53	0.003	AKR1C4, AKR1C2

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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
nuclear transcription factor complex (GO:0044798)	4.95	2	SRY, NR5A1
transcription factor complex (GO:0005667)	4.1	2	SRY, NR5A1
nucleoplasm (GO:0005654)	1.89	5	SRY, ZFPM2, CBX2, NR0B1, NR5A1
cytosol (GO:0005829)	1.68	2	AKR1C4, MAP3K1
extracellular region part (GO:0044421)	1.57	2	DHH, AKR1C4
nuclear part (GO:0044428)	1.55	5	SRY, ZFPM2, CBX2, NR0B1, NR5A1
protein complex (GO:0043234)	1.51	3	SRY, CBX2, NR5A1
macromolecular complex (GO:0032991)	1.35	4	SRY, CBX2, NR5A1, NR0B1
nucleus (GO:0005634)	1.07	5	SRY, ZFPM2, CBX2, NR0B1, NR5A1
cytoplasm (GO:0005737)	1.01	6	AKR1C4, MAP3K1, AKR1C2, ZFPM2, NR0B1, SRY

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