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Table 1 The functional enrichment analyses of DEGs ranked by P-value

From: Investigation of the underlying genes and mechanism of familial hypercholesterolemia through bioinformatics analysis

Term

Count

Genes

P-Value

GO-BPs

 GO:0001843 ~ neural tube closure

4

TMED2, SKI, PRKACB, VASP

0.006332314

 GO:0010942 ~ positive regulation of cell death

3

AKR1C3, UCP2, TRIM13

0.008780361

 GO:0007596 ~ blood coagulation

5

P2RX5, F5, ENPP4, PRKACB, WAS

0.012574205

 GO:0007229 ~ integrin-mediated signaling pathway

4

ITGAL, ITGAV, PRAM1, ZYX

0.012578224

 GO:0038027 ~ apolipoprotein A-I-mediated signaling pathway

2

ABCA7, ITGAV

0.024181939

 GO:0051289 ~ protein homotetramerization

3

CRTC2, VASP, GOLGA2

0.034735707

 GO:0048208 ~ COPII vesicle coating

3

F5, TMED2, GOLGA2

0.035801513

 GO:0035019 ~ somatic stem cell population maintenance

3

BCL9L, SKI, POLR2A

0.040189117

 GO:0006888 ~ ER to Golgi vesicle-mediated transport

4

F5, TMED2, GOLGA2, SPTAN1

0.043542377

 GO:0098609 ~ cell-cell adhesion

5

PKM, BAG3, VASP, GOLGA2, SPTAN1

0.043641603

GO-CCs

 GO:0005913 ~ cell-cell adherens junction

7

PKM, TLN1, BAG3, ZYX, VASP, GOLGA2, SPTAN1

0.004005355

 GO:0032587 ~ ruffle membrane

4

ABCA7, TLN1, ITGAV, IFIT5

0.00665283

 GO:0005886 ~ plasma membrane

30

ABCA7, ITGAL, TLN1, LRRC8B, ENPP4, MMP25, PKM, DYSF, ITGAV, BAG3, ANKRD11, CD4, PRKACB, KLRF1, ZYX, FLVCR1, FMNL1, KLRB1, RHBDF2, CD160, EDA2R, VASP, P2RX5, LSP1, PRKD2, NEDD1, F5, IFIT5, P2RY14, CYBRD1

0.010121246

 GO:0016020 ~ membrane

19

FMNL1, ITGAL, MOB4, ENPP4, MAP 4 K1, RPS9, PRRC2A, CAD, MMP25, TAPBP, LSP1, PIGK, F5, PEX2, ITGAV, CD4, KLRF1, NCOR2, SPTAN1

0.011799738

 GO:0070062 ~ extracellular exosome

22

FMNL1, ITGAL, CRTC2, TLN1, ENPP4, RPS9, MINK1, PRRC2A, CAD, WAS, VASP, AKR1C3, PKM, LSP1, DYSF, CLIC3, UBA1, ITGAV, BEX5, CYBRD1, PRKACB, SPTAN1

0.017083511

 GO:1903561 ~ extracellular vesicle

3

PKM, F5, SPTAN1

0.022786951

 GO:0017053 ~ transcriptional repressor complex

3

MIER1, SKI, NCOR2

0.027213685

 GO:0005654 ~ nucleoplasm

21

CRTC2, SF1, RPS9, CAD, SKI, BOD1L1, POLR2A, FEM1C, PRKD2, NEDD1, HNRNPUL1, MIER1, SRRM2, FYTTD1, ANKRD11, SP4, BCL9L, KPNA5, PRKACB, NCOR2, CHD3

0.02939589

 GO:0033116 ~ endoplasmic reticulum-Golgi intermediate compartment membrane

3

F5, TMED2, GOLGA2

0.035966686

 GO:0005737 ~ cytoplasm

33

CRTC2, TLN1, MOB4, LRRC8B, MAP 4 K1, TRIM13, PRRC2A, AKR1C3, DNAJC17, PKM, MIER1, BAG3, ANKRD11, HECTD3, ZYX, MTMR6, CHD3, C15ORF39, RPS9, MINK1, SKI, VASP, P2RX5, FEM1C, PRKD2, CLIC3, UBA1, RFK, SP4, BEX5, CMIP, KPNA5, FPGT

0.045491399

 GO:0032580 ~ Golgi cisterna membrane

3

MOB4, TMED2, GOLGA2

0.049065899

GO-MFs

 GO:0005515 ~ protein binding

62

RARRES3, TLN1, LRRC8B, HMGN4, TAPBP, PKM, PIGK, DYSF, PEX2, MIER1, BAG3, ZYX, PRKACB, MATK, FLVCR1, GOLGA2, FMNL1, GZMA, SF1, CD160, MINK1, LENG8, WAS, VASP, PRKD2, F5, CLIC3, PRAM1, CYBRD1, KPNA5, CMIP, ITGAL, CRTC2, MOB4, TRIM13, MAP 4 K1, PRRC2A, CIC, POLR2A, TMED2, CD69, ITGAV, HECTD3, LIMD2, CD4, MTMR6, TRAM1, CHD3, EDA2R, RPS9, ZNF26, SKI, FEM1C, MRFAP1L1, HNRNPUL1, UCP2, UBA1, FYTTD1, SP4, BEX5, NCOR2, SPTAN1

0.0000906709830702394

 GO:0098641 ~ cadherin binding involved in cell-cell adhesion

6

PKM, TLN1, BAG3, VASP, GOLGA2, SPTAN1

0.014824041

 GO:0004888 ~ transmembrane signaling receptor activity

5

KLRB1, P2RX5, CD69, CD4, KLRF1

0.02204474

 GO:0044822 ~ poly(A) RNA binding

12

PKM, HNRNPUL1, UBA1, FYTTD1, SRRM2, IFIT5, SF1, RPS9, PRRC2A, ZYX, CHD3, POLR2A

0.023879125

 GO:0032393 ~ MHC class I receptor activity

2

CD160, KLRF1

0.02949141

 GO:0005522 ~ profilin binding

2

FMNL1, VASP

0.043913166