Disease table of SPERMATOGENIC FAILURE OMIM ID: PS258150

Gene-disease associations table

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Gene	Associated with SPERMATOGENIC FAILURE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
AURKC	ClinVar, OMIM	HGNC link	19q13.43	1	PS258150
CATSPER1	ClinVar, OMIM	HGNC link	11q13.1	1	PS258150
DPY19L2	ClinVar, OMIM	HGNC link	12q14.2	1	PS258150
KLHL10	ClinVar, OMIM, HUMSAVAR	HGNC link	17q21.2	1	PS258150
NANOS1	ClinVar, OMIM	HGNC link	10q26.11	1	PS258150
NR5A1	ClinVar, OMIM, HUMSAVAR	HGNC link	9q33.3	3	PS258150, 612964, PS400044
SEPT12	ClinVar, OMIM, HUMSAVAR	HGNC link	16p13.3	1	PS258150
SLC26A8	ClinVar, OMIM, HUMSAVAR	HGNC link	6p21.31	1	PS258150
SPATA16	ClinVar, OMIM, HUMSAVAR	HGNC link	3q26.31	1	PS258150
SYCP3	ClinVar, OMIM	HGNC link	12q23.2	1	PS258150

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Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
12q	2	DPY19L2, SYCP3

By chromosome

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Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
12	2	DPY19L2, SYCP3
17	2	KLHL10, ZMYND15

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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
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	0

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regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
NR5A1	YES	5	SP1, WT1, SOX9, NR0B1, USF2	0

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Interactions from BIOGRID - physical

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
KLHL10	AURKC	No	1	HSP90AA1
TEX11	NR5A1	No	1	NRIP1
TEX11	SEPT12	No	1	SEPT1

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

Interactions from BIOGRID - genetic

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Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
USP9Y	CATSPER1	No	1	KRAS
USP9Y	NR5A1	No	1	KRAS
CATSPER1	NR5A1	No	1	KRAS

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

Interactions from STRING

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Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
USP9Y	AURKC	No	-	1	UBC
TEX15	SYCP3	No	-	3	BRCA1, HIST3H3, H2AFX
TEX11	SYCP3	No	-	1	SYCP2
CATSPER1	SYCP3	No	-	1	HSPA2

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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 (no shared terms)

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
Meiosis	R-HSA-1500620	6.59	2	SYCP3, TEX15
Cell Cycle	R-HSA-1640170	3.89	2	SYCP3, TEX15
Gene Expression	R-HSA-74160	2.72	2	NR5A1, TAF4B

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NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Meiosis (R-HSA-1500620)	-	6.59	0.028	SYCP3, TEX15

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
phospholipid binding (GO:0005543)	3.91	2	NR5A1, SEPT12
ion channel activity (GO:0005216)	3.71	2	CATSPER1, SLC26A8
substrate-specific channel activity (GO:0022838)	3.67	2	CATSPER1, SLC26A8
passive transmembrane transporter activity (GO:0022803)	3.6	2	CATSPER1, SLC26A8
channel activity (GO:0015267)	3.6	2	CATSPER1, SLC26A8
lipid binding (GO:0008289)	3.26	2	NR5A1, SEPT12
ion transmembrane transporter activity (GO:0015075)	3.04	2	CATSPER1, SLC26A8
substrate-specific transmembrane transporter activity (GO:0022891)	2.9	2	CATSPER1, SLC26A8
transmembrane transporter activity (GO:0022857)	2.82	2	CATSPER1, SLC26A8
substrate-specific transporter activity (GO:0022892)	2.72	2	CATSPER1, SLC26A8

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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
synaptonemal complex assembly (GO:0007130)	6.78	2	TEX15, TEX11
synaptonemal complex organization (GO:0070193)	6.64	2	TEX15, TEX11
male meiosis (GO:0007140)	6.59	2	TEX15, TEX11
homeostasis of number of cells within a tissue (GO:0048873)	6.33	2	TEX15, KLHL10
chromosome organization involved in meiotic cell cycle (GO:0070192)	5.9	2	TEX15, TEX11
sperm motility (GO:0030317)	5.82	2	CATSPER1, SLC26A8
meiotic nuclear division (GO:0007126)	5.37	3	SYCP3, TEX15, TEX11
spermatid development (GO:0007286)	5.32	3	ZMYND15, KLHL10, DPY19L2
meiotic cell cycle (GO:0051321)	5.27	5	SYCP3, TEX15, AURKC, TEX11, SLC26A8
fertilization (GO:0009566)	5.1	3	KLHL10, TEX11, TEX15

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NET-GE enrichment

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Term	New enriched term	IC	P value	Genes
synaptonemal complex assembly (GO:0007130)	-	6.78	0.035	SYCP3, TEX15, TEX11
synaptonemal complex organization (GO:0070193)	-	6.64	0.044	TEX15, TEX11
homeostasis of number of cells within a tissue (GO:0048873)	-	6.33	0.049	TEX15, KLHL10
meiotic nuclear division (GO:0007126)	-	5.37	0.043	SYCP3, TEX15, AURKC, SLC26A8
spermatid development (GO:0007286)	-	5.32	0.005	ZMYND15, KLHL10, DPY19L2
fertilization (GO:0009566)	-	5.1	0.0	TEX15, TEX11, KLHL10, CATSPER1
male gonad development (GO:0008584)	-	5.08	0.013	KLHL10, TEX11, NR5A1
gonad development (GO:0008406)	-	4.92	0.033	KLHL10, TEX11, NR5A1
germ cell development (GO:0007281)	-	4.75	0.045	ZMYND15, KLHL10, DPY19L2
meiotic cell cycle process (GO:1903046)	-	4.71	0.023	SYCP3, TEX15, TEX11

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GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

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GO	IC	Number of genes with the same GO	Genes
condensed chromosome (GO:0000793)	5.64	2	TEX11, AURKC
motile cilium (GO:0031514)	5.36	2	SEPT12, CATSPER1
RNA polymerase II transcription factor complex (GO:0090575)	5.18	2	NR5A1, TAF4B
midbody (GO:0030496)	4.95	2	SEPT12, AURKC
nuclear transcription factor complex (GO:0044798)	4.95	2	NR5A1, TAF4B
chromosome, centromeric region (GO:0000775)	4.85	2	SYCP3, AURKC
spindle (GO:0005819)	4.52	2	SEPT12, AURKC
chromosomal region (GO:0098687)	4.19	2	SYCP3, AURKC
transcription factor complex (GO:0005667)	4.1	2	NR5A1, TAF4B
cilium (GO:0005929)	3.89	2	SEPT12, CATSPER1

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