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Table 3 98 genes grouped in functional categories. Transcripts are ordered by their Apert-to-control ratios (Log 2). Upregulated genes in AS cells are shown in orange. Downregulated genes are shown in blue.

From: Apert p.Ser252Trp Mutation in FGFR2 Alters Osteogenic Potential and Gene Expression of Cranial Periosteal Cells

Gene (Official Symbol)

Gene name

Accession number

P value

Apert-to-control Ratio (Log2)

x-fold up-or down-regulated in Apert

Positive regulation of cell proliferation

    

CIP29

cytokine induced protein 29 kDa

NM_033082.1

0.040

1.24

2.36

TCF19

transcription factor 19 (SC1)

BC033086.1

0.041

1.23

2.34

SPBC25 b

spindle pole body component 25 homolog (S. cerevisiae)

NM_020675.3

0.010

1.18

2.27

STMN1 b

stathmin 1/oncoprotein 18

NM_203401.1

0.006

1.11

2.16

SPAG5 b

sperm associated antigen 5

NM_006461.2

0.007

0.98

1.97

MCM4

MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)

NM_182746.1

0.030

0.90

1.87

HCAP-G

chromosome condensation protein G

NM_022346.2

0.028

0.87

1.83

RRM2 b

ribonucleotide reductase M2 polypeptide

NM_001034.1

0.019

0.86

1.81

AURKB

aurora kinase B

NM_004217.1

0.031

0.84

1.79

NEK6 b

NIMA (never in mitosis gene a)-related kinase 6

NM_014397.3

0.017

0.74

1.67

CKAP2

cytoskeleton associated protein 2

NM_018204.2

0.037

0.66

1.58

NEDD1

neural precursor cell expressed, developmentally downregulated 1

NM_152905.2

0.041

0.62

1.53

RNASEH2A b

ribonuclease H2, subunit A

NM_006397.2

0.011

0.60

1.52

UFD1L b

ubiquitin fusion degradation 1 like (yeast)

NM_005659.3

0.023

0.59

1.51

PLK3

polo-like kinase 3 (Drosophila)

NM_004073.2

0.036

0.57

1.48

CKLF b

chemokine-like factor

NM_016951.2

0.021

0.55

1.46

TK1

thymidine kinase 1, soluble

NM_003258.1

0.028

0.50

1.41

DTYMK

deoxythymidylate kinase

NM_012145.2

0.037

0.44

1.36

MUS81 b

MUS81 endonuclease homolog (S. cerevisiae)

NM_025128.3

0.024

0.44

1.35

MAPRE1

microtubule-associated protein, RP/EB family, member 1

NM_012325.1

0.045

0.38

1.30

HECA b

headcase homolog (Drosophila)

NM_016217.1

0.047

−0.62

1.54

CSNK2A1

casein kinase 2, α 1 polypeptide

NM_177560.2

0.030

−0.73

1.66

BCL6 a

B-cell CLL/lymphoma 6 (zinc finger protein 51)

NM_001706.2

0.013

−0.74

1.67

BCL3

B-cell CLL/lymphoma 3

NM_005178.2

0.039

−0.79

1.73

ADAM33

ADAM metallopeptidase domain 33

NM_153202.1

0.027

−1.22

2.33

PDGFRA

platelet-derived growth factor receptor, α polypeptide

NM_006206.2

0.045

−1.34

2.53

ChGn a

chondroitin beta1,4 N-acetylgalactosaminyltransferase

NM_018371.3

0.015

−1.42

2.68

PIK3C2B a

phosphoinositide-3-kinase, class 2, β polypeptide

NM_002646.2

0.004

−1.54

2.91

Negative regulation of cell proliferation

    

RAD1 b

RAD1 homolog (S. pombe)

NM_002853.2

0.018

0.73

1.66

CDKN3

cyclin-dependent kinase inhibitor 3 (CDK2-associated dual specificity phosphatase)

NM_005192.2

0.044

0.60

1.52

RBM5 b

RNA binding motif protein 5

NM_005778.1

0.024

−0.69

1.61

ING4

inhibitor of growth family, member 4

NM_198287.1

0.044

−0.69

1.62

IFITM3

interferon induced transmembrane protein 3 (1-8U)

NM_021034.1

0.033

−0.83

1.77

KLF11

Kruppel-like factor 11

NM_003597.4

0.039

−0.92

1.89

MTSS1 b

metastasis suppressor 1

NM_014751.2

0.009

−1.14

2.20

RARRES3 b

retinoic acid receptor responder (tazarotene induced) 3

NM_004585.2

0.022

−1.64

3.12

Nucleotide metabolism

    

CTPS

CTP synthase

NM_001905.1

0.046

0.98

1.98

RRM2 b

ribonucleotide reductase M2 polypeptide

NM_001034.1

0.019

0.86

1.81

PRPS1L1 b

phosphoribosyl pyrophosphate synthetase 1-like 1

NM_175886.2

0.022

0.71

1.63

POLR3K b

polymerase (RNA) III (DNA directed) polypeptide K

NM_016310.2

0.013

0.69

1.61

RRM1

ribonucleotide reductase M1 polypeptide

NM_001033.2

0.045

0.55

1.46

TK1

thymidine kinase 1, soluble

NM_003258.1

0.028

0.50

1.41

DTYMK

deoxythymidylate kinase

NM_012145.2

0.037

0.44

1.36

ADCY2 b

adenylate cyclase 2 (brain)

NM_020546.1

0.028

0.41

1.33

ATP5G1

ATP synthase, H + transporting, mitochondrial F0 complex, subunit C1 (subunit 9)

NM_005175.1

0.042

0.28

1.22

PDE6G b

phosphodiesterase 6G, cGMP-specific, rod, gamma

NM_002602.1

0.003

−0.53

1.44

Regulation of gene expression

    

CIP29

cytokine induced protein 29 kDa

NM_033082.1

0.040

1.24

2.36

ZNF738 a

zinc finger protein 738

BC034499.1

0.003

1.03

2.04

POLR3K b

polymerase (RNA) III (DNA directed) polypeptide K

NM_016310.2

0.013

0.69

1.61

ELAVL1

ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R)

NM_001419.2

0.041

0.67

1.59

HIP2 b

huntingtin interacting protein 2

NM_005339.3

0.017

0.58

1.49

CREB3 b

cAMP responsive element binding protein 3

NM_006368.4

0.023

0.46

1.38

CASP8AP2

CASP8 associated protein 2

NM_012115.2

0.049

0.41

1.33

ZNF414 b

zinc finger protein 414

NM_032370.1

0.029

0.41

1.32

GABPB2

GA binding protein transcription factor, β subunit 2

NM_002041.2

0.027

0.40

1.32

SMARCA4

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4

NM_003072.2

0.034

0.39

1.31

SIX5 b

sine oculis homeobox homolog 5 (Drosophila)

NM_175875.3

0.017

−0.49

1.40

ZNF44

zinc finger protein 44

BC032246.1

0.032

−0.57

1.49

ZFHX4

zinc finger homeodomain 4

NM_024721.2

0.030

−0.58

1.49

MITF

microphthalmia-associated transcription factor

NM_006722.1

0.042

−0.60

1.51

ZNF688

zinc finger protein 688

NM_145271.2

0.026

−0.61

1.53

TNIP2 b

TNFAIP3 interacting protein 2

NM_024309.2

0.008

−0.62

1.54

ING4

inhibitor of growth family, member 4

NM_198287.1

0.044

−0.69

1.62

BCL6 a

B-cell CLL/lymphoma 6 (zinc finger protein 51)

NM_001706.2

0.013

−0.74

1.67

ELL3 b

elongation factor RNA polymerase II-like 3

NM_025165.1

0.006

−0.74

1.67

PPARA b

peroxisome proliferative activated receptor, α

NM_032644.1

0.009

−0.74

1.67

RELB

v-rel reticuloendotheliosis viral oncogene homolog B, nuclear factor of kappa light polypeptide gene enhancer in B-cells 3 (avian)

NM_006509.2

0.033

−0.74

1.67

ZFP64 b

zinc finger protein 64 homolog (mouse)

NM_018197.2

0.017

−0.78

1.72

BCL3

B-cell CLL/lymphoma 3

NM_005178.2

0.039

−0.79

1.73

NFIL3 b

nuclear factor, interleukin 3 regulated

NM_005384.1

0.012

−0.83

1.77

ANKZF1

ankyrin repeat and zinc finger domain containing 1

NM_018089.1

0.036

−0.85

1.81

ARID5A

AT rich interactive domain 5A (MRF1-like)

NM_006673.2

0.042

−0.92

1.89

KLF11

Kruppel-like factor 11

NM_003597.4

0.039

−0.92

1.89

CREB5 b

cAMP responsive element binding protein 5

NM_004904.1

0.010

−1.00

2.00

PNRC1 a

proline-rich nuclear receptor coactivator 1

NM_006813.1

0.008

−1.05

2.07

ATF3

activating transcription factor 3

NM_004024.2

0.049

−1.10

2.14

MAF

v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)

NM_005360.2

0.044

−1.19

2.29

ZNF385 b

zinc finger protein 385

NM_015481.1

0.011

−1.38

2.61

Cell Adhesion

     

HAPLN1 a

hyaluronan and proteoglycan link protein 1

NM_001884.2

0.005

3.00

7.99

CIB1 b

calcium and integrin binding 1 (calmyrin)

NM_006384.2

0.035

0.32

1.25

FLRT2

fibronectin leucine rich transmembrane protein 2

NM_013231.3

0.042

−0.64

1.56

CNTNAP1

contactin associated protein 1

NM_003632.1

0.041

−0.72

1.64

CSNK2A1

casein kinase 2, α 1 polypeptide

NM_177560.2

0.030

−0.73

1.66

LGALS3BP b

lectin, galactoside-binding, soluble, 3 binding protein

NM_005567.2

0.014

−0.89

1.85

PERP

PERP, TP53 apoptosis effector

NM_022121.2

0.042

−0.92

1.89

ADAM8 b

a disintegrin and metalloproteinase domain 8

NM_001109.1

0.044

−1.06

2.08

CLDN15 b

claudin 15

NM_014343.1

0.022

−1.13

2.19

ADAM33

ADAM metallopeptidase domain 33

NM_153202.1

0.027

−1.22

2.33

PDGFRA

platelet-derived growth factor receptor, α polypeptide

NM_006206.2

0.045

−1.34

2.53

TNXB b

tenascin XB

NM_032470.2

0.015

−2.32

4.98

DKFZp434 B1231 b

eEF1A2 binding protein

NM_178275.3

0.010

−2.66

6.31

Extracellular matrix component, biosynthesis

    

HAPLN1 a

hyaluronan and proteoglycan link protein 1

NM_001884.2

0.005

3.00

7.99

TIMP3 a

TIMP metallopeptidase inhibitor 3

BG104808.1

0.006

0.42

1.34

BMP1 b

bone morphogenetic protein 1

NM_006129.2

0.024

−0.62

1.54

B4GALT7 b

xylosylprotein β 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)

NM_007255.1

0.026

−0.66

1.57

MATN2

matrilin 2

NM_030583.1

0.027

−0.96

1.95

ChGn a

chondroitin beta1,4 N-acetylgalactosaminyltransferase

NM_018371.3

0.015

−1.42

2.68

TNXB b

tenascin XB

NM_032470.2

0.015

−2.32

4.98

MAPK signaling pathway

    

DUSP2 b

dual specificity phosphatase 2

NM_004418.2

0.004

1.17

2.25

STMN1 b

stathmin 1/oncoprotein 18

NM_203401.1

0.006

1.11

2.16

PLA2G12A

phospholipase A2, group XIIA

NM_030821.3

0.044

0.39

1.31

PDE6G b

phosphodiesterase 6G, cGMP-specific, rod, gamma

NM_002602.1

0.003

−0.53

1.44

TNIP2 b

TNFAIP3 interacting protein 2

NM_024309.2

0.008

−0.62

1.54

UCN

urocortin

NM_003353.2

0.044

−0.65

1.57

CASP7 b

caspase 7, apoptosis-related cysteine peptidase

NM_001227.2

0.023

−0.65

1.57

MAP3K6

mitogen-activated protein kinase kinase kinase 6

NM_004672.3

0.041

−0.67

1.59

BCL3

B-cell CLL/lymphoma 3

NM_005178.2

0.039

−0.79

1.73

MAPK8IP1

mitogen-activated protein kinase 8 interacting protein 1

NM_005456.2

0.037

−0.86

1.81

SPTBN1

spectrin, beta, non-erythrocytic 1 (SPTBN1)

NM_003128.1

0.049

−0.87

1.83

KLF11

Kruppel-like factor 11

NM_003597.4

0.039

−0.92

1.89

PNRC1 a

proline-rich nuclear receptor coactivator 1

NM_006813.1

0.008

−1.05

2.07

PDGFRA

platelet-derived growth factor receptor, α polypeptide

NM_006206.2

0.045

−1.34

2.53

PIK3C2B a

phosphoinositide-3-kinase, class 2, β polypeptide

NM_002646.2

0.004

−1.54

2.91

RARRES3 b

retinoic acid receptor responder (tazarotene induced) 3

NM_004585.2

0.022

−1.64

3.12

  1. aGenes within the list of 120 genes identified as differentially expressed in at least 50 percent of the “leave-one-out” datasets.
  2. bThose within the list of 25 genes identified as differentially expressed in 100 percent of the “leave-one-out” datasets (see Methods for details).