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Table 2 Gene set enrichment analysis– single nucleotide polymorphism results for conception rate to first service (CCR1) in Holstein cows

From: Validation of loci and genes associated with fertility in Holstein cows using gene-set enrichment analysis-SNP and genotype-by-sequencing

Gene Setsa

# Genes

(# LEG)b

NESc

Leading Edge Genesd

Cell Cycle, Mitotic (R-HSA-69278)

300 (93)

5.08

RAD21, PAFAH1B1, CEP290, CLIP1, RBL2, TUBB4B, CENPH, CCNB1, CDK6, CCNE2, CEP250, CENPJ, CASC5, PRIM2, KNTC1, CDK1, YWHAE, CLASP1, BTRC, CDC14A, SDCCAG8, CDK7, CDKN2A, CDKN2B, CEP41, CCNA2, NUF2, KIF23, PSMA4, PSMB8, PSMB9, MCM7, MCM3, MCM2, UBE2C, OFD1, RPA3, KIF2B, NUP133, AHCTF1, PRKAR2B, NUDC, PRIM1, TYMS, ALMS1, CENPT, ANAPC5, CEP72, CEP70, CUL1, DHFR, ANAPC7, SKA1, AKAP9, NINL, PRKACA, STAG2, CDC45, CCNE1, PLK1, PSMD11, DYRK1A, CDT1, PSMB7, ITGB3BP, MAD1L1, NUMA1, INCENP, CEP135, RBL1, FBXO5, PPP2R5E, ANAPC10, DCTN1, Sect. 13, PSMB10, CDC7, PTTG1, BUB1B, CENPP, BUB1, PSMA2, LIN52, PSME1, PSME2, TUBGCP3, FGFR1OP, PSMB2, PPP2R2A, PSMC1, RB1, YWHAG, CCND2

Cell Cycle (R-HSA-1640170)

364 (126)

4.87

RAD21, PAFAH1B1, CEP290, CLIP1, RBL2, TUBB4B, CENPH, CCNB1, CDK6, RFWD2, SYNE2, H2AFX, CCNE2, CEP250, CENPJ, CASC5, PRIM2, KNTC1, CDK1, YWHAE, CLASP1, BTRC, CDC14A, SDCCAG8, CDK7, CDKN2A, CDKN2B, CEP41, CCNA2, NUF2, RUVBL1, KIF23, PSMA4, POT1, PSMB8, PSMB9, MCM7, MCM3, ATR, MCM2, UBE2C, OFD1, HIST1H4D, RPA3, KIF2B, NUP133, AHCTF1, PRKAR2B, SYNE1, NUDC, PRIM1, TYMS, ALMS1, CENPT, ANAPC5, CEP72, CEP70, CUL1, FKBP6, DHFR, ANAPC7, SKA1, HIST1H2BN, SMC1B, AKAP9, NINL, PRKACA, STAG2, CDC45, CCNE1, PLK1, PSMD11, DYRK1A, MIS18A, RAD1, CDT1, PSMB7, ITGB3BP, MAD1L1, NUMA1, INCENP, HUS1, CEP135, RBL1, FBXO5, PPP2R5E, ANAPC10, DCTN1, Sect. 13, PSMB10, CDC7, PTTG1, BUB1B, CENPP, BUB1, PSMA2, LIN52, PSME1, PSME2, TUBGCP3, FGFR1OP, PSMB2, PPP2R2A, PSMC1, RB1, YWHAG, CCND2, HIST1H2BI, REC8, CEP76, HJURP, CHEK2, HIST1H2BJ, PSMC6, HIST3H2BB, RSF1, GINS4, MCM8, ORC2, PCNT, LIN54, ANAPC1, PSMC2, HIST1H2BB, ANAPC2, SSNA1

Protein Polymerization (GO:0051258)

79 (21)

4.81

TWF1, TUBB4B, ARFIP2, TUBA8, CAPZA2, F2, SCIN, WASF1, SLAIN2, ANG, VIL1, CAPZB, TMSB4, RASA1, SNCA, ARPIN, ARPC1A, UBE2C, RAC1, WASL, ARPC5

Recruitment of Mitotic Centrosome Proteins and Complexes

(R-HSA-380270)

62 (22)

4.77

PAFAH1B1, CEP290, TUBB4B, CCNB1, CEP250, CENPJ, CDK1, YWHAE, CLASP1, SDCCAG8, CEP41, OFD1, PRKAR2B, ALMS1, CEP72, CEP70, AKAP9, NINL, PRKACA, PLK1, NUMA1, CEP135

Mitotic G2-G2/M phases

(R-HSA-453274)

76 (24)

4.74

PAFAH1B1, CEP290, TUBB4B, CCNB1, CEP250, CENPJ, CDK1, YWHAE, CLASP1, SDCCAG8, CDK7, CEP41, CCNA2, OFD1, PRKAR2B, ALMS1, CEP72, CEP70, AKAP9, NINL, PRKACA, PLK1, NUMA1, CEP135

Loss of NLP From Mitotic Centrosomes (R-HSA-380259)

55 (20)

4.68

PAFAH1B1, CEP290, TUBB4B, CEP250, CENPJ, CDK1, YWHAE, CLASP1, SDCCAG8, CEP41, OFD1, PRKAR2B, ALMS1, CEP72, CEP70, AKAP9, NINL, PRKACA, PLK1, CEP135

Cellular Component Disassembly (GO:0022411)

81 (20)

4.64

TWF1, DPP4, MICAL3, CCNB1, GABARAPL1, MMP13, CAPZA2, SCIN, VIL1, CAPZB, ENDOG, FOXL2, BAX, KIF2B, FIS1, NAPB, STMN1, DSTN, SBDS, MTRF1L

Macromolecular Complex Assembly (GO:0065003)

372 (84)

4.47

TWF1, SRSF1, TUBB4B, CNOT7, HES1, SF3A1, H1FOO, CENPH, CHMP4A, DPAGT1, CAMK2D, KCTD1, SAMHD1, VAMP4, ARFIP2, RAD51, SRR, TUBA8, SLC6A4, CAPZA2, TBCA, OAT, F2, FECH, SCIN, WASF1, SLAIN2, ANG, VIL1, PEX5, VWF, STRAP, EIF6, COX7A2L, CAPZB, SNAP29, MGST1, TMSB4, RASA1, IGF1R, GEMIN8, LRRC6, NAP1L1, CBR4, SNCA, NUDT21, ARPIN, COX19, ARPC1A, ASF1A, UBE2C, NLRC4, NDUFAF6, MICU1, CLU, BAX, LMO4, RAC1, CAT, WASL, ARPC5, FIS1, NAPB, PRPF19, CYBA, SBDS, DRC1, LONP1, ARPC3, TARBP2, PDCL, IL5, H4, HIST1H1A, ATP6V0A2, PSMD11, RDX, ARL6, MIS18A, FAS, LUC7L3, KCTD5, SAR1A, MIF

Signaling by NGF (R-HAS-9031628)

207(80)

4.42

NTRK2, SOS2, APH1B, RAP1A, PRKCE, ADCY2, ADCY5, ATF1, VAV3, MAPK8, AKT3, MYD88, SORCS3, CDK1, AKAP13, ADAM17, YWHAE, MCF2, TIAM2, CAMK4, TIAM1, PRKCI, FOXO3, ADCY1, DUSP6, FGD2, ADCY9, SQSTM1, FGD4, ABR, PIK3R1, NR4A1, ITSN1, PDPK1, OBSCN, RALB, MEF2A, PDE1A, AP2A1, PRKAR2A, RAC1, RPS6KA3, CHUK, KIDINS220, AP2B1, PRKAR2B, FURIN, ADCYAP1R1, PIK3CB, RASGRF2, ARHGEF3, SRC, ARHGAP4, MAPKAP1, PHLPP1, SHC3, CASP9, FGD3, LINGO1, ARHGEF6, PRKACA, MAP2K5, ITPR3, ADCY8, ADCY7, ITGB3BP, MEF2C, TRIO, FOXO1, PLCG1, AKT1S1, MTOR, PIK3CA, CLTC, CLTA, RIPK2, ADCY3, TRAF6, PRKAR1B, APH1A

Protein Complex Assembly (GO:0065003)

303 (73)

4.38

TWF1, TUBB4B, HES1, H1FOO, CENPH, CHMP4A, DPAGT1, CAMK2D, KCTD1, SAMHD1, VAMP4, ARFIP2, RAD51, SRR, TUBA8, SLC6A4, CAPZA2, TBCA, OAT, F2, SCIN, WASF1, SLAIN2, ANG, VIL1, PEX5, VWF, COX7A2L, CAPZB, SNAP29, MGST1, TMSB4, RASA1, IGF1R, LRRC6, NAP1L1, CBR4, SNCA, NUDT21, ARPIN, COX19, ARPC1A, ASF1A, UBE2C, NLRC4, NDUFAF6, MICU1, CLU, BAX, LMO4, RAC1, CAT, WASL, ARPC5, FIS1, NAPB, CYBA, DRC1, LONP1, ARPC3, PDCL, IL5, H4, HIST1H1A, ATP6V0A2, PSMD11, RDX, ARL6, MIS18A, FAS, KCTD5, SAR1A, MIF

Regulation of RNA Splicing (GO:0043484)

33 (13)

4.31

SRSF1, SF3A1, RBFOX1, CLK3, SNW1, HNRNPF, SNRNP70, PIK3R1, RBM22, CELF3, RBFOX2, PRPF19, NSRP1

Actin Filament Polymerization (GO:0030041)

48 (15)

4.29

TWF1, ARFIP2, CAPZA2, SCIN, WASF1, ANG, VIL1, CAPZB, TMSB4, RASA1, ARPIN, ARPC1A, RAC1, WASL, ARPC5

Actin Polymerization or Depolymerization (GO:0008154)

58 (17)

4.27

TWF1, MICAL3, ARFIP2, CAPZA2, SCIN, WASF1, ANG, VIL1, CAPZB, TMSB4, RASA1, ARPIN, ARPC1A, RAC1, WASL, ARPC5, DSTN

Cilium Morphogenesis (GO:0060271)

46 (8)

4.24

CEP290, ASAP1, IFT46, IFT43, TTLL1, C7H5ORF30, CEP41, LRRC6

Protein Complex Biogenesis (GO:0070271)

306 (73)

4.23

TWF1, TUBB4B, HES1, H1FOO, CENPH, CHMP4A, DPAGT1, CAMK2D, KCTD1, SAMHD1, VAMP4, ARFIP2, RAD51, SRR, TUBA8, SLC6A4, CAPZA2, TBCA, OAT, F2, SCIN, WASF1, SLAIN2, ANG, VIL1, PEX5, VWF, COX7A2L, CAPZB, SNAP29, MGST1, TMSB4, RASA1, IGF1R, LRRC6, NAP1L1, CBR4, SNCA, NUDT21, ARPIN, COX19, ARPC1A, ASF1A, UBE2C, NLRC4, NDUFAF6, MICU1, CLU, BAX, LMO4, RAC1, CAT, WASL, ARPC5, FIS1, NAPB, CYBA, DRC1, LONP1, ARPC3, PDCL, IL5, H4, HIST1H1A, ATP6V0A2, PSMD11, RDX, ARL6, MIS18A, FAS, KCTD5, SAR1A, MIF

Macromolecular Complex Binding (GO:0044877)

297 (97)

4.13

PAFAH1B1, RAP1A, H1FOO, PPARGC1A, CENPH, GABARAPL1, MMP13, MUM1, SLC6A4, YWHAE, PLS1, MYO10, F2, STRN3, COLEC12, SCIN, WASF1, SEC61A2, MYB, HMGB4, TDRD3, GNAO1, VIL1, VWF, EIF6, PRKCB, CAPZB, GNAI1, TFAM, POLR3A, IGF1R, SEC61A1, DNAJC2, HMGN4, PIK3R1, USH1C, PDGFA, MEF2A, ARPC1A, ASF1A, PRIMPOL, LMO2, MYO1D, NANOG, MTA3, CCNT1, TNNC1, MTM1, KIF2B, MSR1, MEN1, KDM8, ZNHIT1, PPIH, SCARB1, SBDS, NR5A1, CDC5L, SPARC, PLAC8, ARPC3, MSH2, SKA1, RNF169, FBLN5, RNF20, HIST1H1A, THBS4, GNAT3, ITGB6, PLK1, BAP1, RBPJ, ANKRD54, CETN1, FOXP1, KCTD5, MEF2C, FSCN2, UHRF1, MCMBP, HMGN3, GNB1, ERMN, GNAT1, REEP4, MAP1LC3B, ASPN, CITED2, AAK1, TMOD1, ITGB1, ARPC1B, URI1, PPARG, SPDL1, MYL12A

Cellular Protein Complex Disassembly (GO:0032984)

40 (13)

4.06

TWF1, MICAL3, CCNB1, CAPZA2, SCIN, VIL1, CAPZB, KIF2B, NAPB, STMN1, DSTN, SBDS, MTRF1L

Cellular Macromolecular Complex Assembly (GO:0006461)

245 (55)

4.06

TWF1, SRSF1, TUBB4B, CNOT7, SF3A1, H1FOO, CENPH, VAMP4, ARFIP2, TUBA8, CAPZA2, TBCA, F2, SCIN, WASF1, SLAIN2, ANG, VIL1, STRAP, EIF6, COX7A2L, CAPZB, SNAP29, TMSB4, RASA1, GEMIN8, LRRC6, NAP1L1, SNCA, ARPIN, COX19, ARPC1A, ASF1A, UBE2C, NDUFAF6, RAC1, WASL, ARPC5, NAPB, PRPF19, CYBA, SBDS, DRC1, LONP1, ARPC3, TARBP2, H4, HIST1H1A, ATP6V0A2, PSMD11, RDX, ARL6, MIS18A, LUC7L3, SAR1A

Regulation of Actin Filament Polymerization (GO:0030833)

44 (6)

4.03

TWF1, CAPZA2, SCIN, VIL1, CAPZB, TMSB4

  1. a Accession code for each gene set is in parentheses: Reactome– R; Gene Ontology– GO. b Total number of genes included in a gene set, with the number of leading edge genes (LEG) listed in parentheses. c Normalized enrichment score (NES) for each gene set, calculated by Kolmogorov-Smirnov-like statistics. d Leading edge gene identified by each gene set, listed in order of significance and identified by gene symbols as listed in the National Center for Biotechnology Information gene database (https://www.ncbi.nlm.nih.gov/gene/; accessed: 9 January, 2022)