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Table 2 Fifteen differently expressed genes in whole blood of OI patients

From: RNA sequencing analysis reveals increased expression of interferon signaling genes and dysregulation of bone metabolism affecting pathways in the whole blood of patients with osteogenesis imperfecta

Gene symbol

Gene name

Specific function

logFC

p value

FDR

IFI27

Interferon, alpha-inducible protein 27

Adaptor protein involved into IFN type-I -induced apoptosis

3.309

1.70E−29

4.00E−25

MTRNR2L1

MT-RNR2-like 1

Neuroprotective, antiapoptotic factor

2.241

3.50E−28

4.00E−24

RAP1GAP

RAP1 GTPase activating protein

GTPase activator

2.825

3.30E−21

3.00E−17

ADGRG7

Adhesion G Protein-Coupled Receptor G7

Transmembrane signaling

5.601

4.00E−19

2.00E−15

RSAD2

Radical S-adenosyl methionine domain containing 2

Antiviral state induced with IFN type I and II

1.721

1.90E−17

9.00E−14

IFI44L

Interferon-induced protein 44-like

Antiviral activity

1.724

6.70E−17

3.00E−13

LTF

Lactoferrin (Lactotransferrin)

Iron binding protein. Anabolic, differentiating and anti-apoptotic effects on osteoblasts, inhibits osteoclastogenesis, possibly playing a role in the regulation of bone growth

1.684

2.00E−15

7.00E−12

JCHAIN

Immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides

Serves to link two monomer units of either IgM or IgA

1.576

2.80E−15

9.00E−12

ALAS2

Aminolevulinate, delta-, synthase 2

Enzyme, participates in Gly, Ser, Thr metabolism

1.541

5.10E−15

1.00E−11

IFITM3

Interferon-induced transmembrane protein 3

Antiviral protein, involved in vacuolar ATPase structural stability

1.578

2.00E−14

5.00E−11

RNF182

Ring finger protein 182

E3 ubiquitin-protein ligase that mediates the ubiquitination of ATP6V0C

1.658

3.20E−14

7.00E−11

MMP8

Matrix metallopeptidase 8 (neutrophil collagenase)

Cleavage of interstitial collagens in the triple helical domain, collagen type I degradation

2.023

3.50E−14

7.00E−11

DEFA3

Defensin Alpha 3

Antimicrobial and cytotoxic peptide involved in host defense

2.027

1.10E−11

2.00E−08

DEFA1B_dup3

-

-

2.027

1.10E−11

2.00E−08

DEFA1_dup3

-

-

2.027

1.10E−11

2.00E−08

OLFM4

Olfactomedin 4

In myeloid leukemia cell lines, inhibits cell growth and induces cell differentiation and apoptosis

1.93

4.50E−10

5.00E−07

BCORP1

BCL6 corepressor pseudogene 1

Pseudogene

−1.531

7.20E−08

5.00E−05

RIMBP2

RIMS binding protein 2

Plays a role in the synaptic transmission as bifunctional linker

3.849

8.20E−07

5.00E−04

PNMA8A

Paraneoplastic Ma antigen family-like 1

Gene associated with oligodendroglioma

3.099

1.90E−06

1.00E−03

CELA1

Chymotrypsin-like elastase family, member 1

Hydrolysis of proteins, including elastin

−1.536

2.50E−06

1.00E−03

SHCBP1

SHC SH2-domain binding protein 1

Testis-specific spindle-associated factor that plays a role in spermatogenesis

1.554

5.20E−06

2.00E−03

ZC3HAV1L

Zinc finger CCCH-type, antiviral 1-like

Antiviral protein

2.473

1.00E−05

4.00E−03

UBE2C

Ubiquitin-conjugating enzyme E2C

Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins

1.587

1.30E−05

5.00E−03

NEK8

NIMA-related kinase 8

Required for renal tubular integrity. May regulate local cytoskeletal structure in kidney tubule epithelial cells

1.676

1.40E−05

5.00E−03

SDC1

Syndecan 1

Cell surface proteoglycan that bears both heparan sulfate and chondroitin sulfate and that links the cytoskeleton to the interstitial matrix

4.825

1.60E−05

6.00E−03

CEACAM6

Carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)

Cell surface glycoprotein that plays a role in cell adhesion and tumor progression

1.595

1.80E−05

6.00E−03

TCL6

T-cell leukemia/lymphoma 6 (non-protein coding)

RNA Gene, and is affiliated with the misc_RNA class. May have a function in neuronal differentiation and/or axon growth

1.788

2.80E−05

9.00E−03

ZBTB32

Zinc finger and BTB domain containing 32

DNA-binding protein. May function as a transcriptional transactivator and transcriptional repressor

2.015

2.90E−05

9.00E−03

GBP7

Guanylate binding protein 7

GTP to GMP hydrolysis

1.541

3.20E−05

1.00E−02

STOX1

Storkhead box 1

Involved in regulating the levels of reactive oxidative species and reactive nitrogen species

−1.856

5.30E−05

1.60E−02

KCNN3

Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3

Forms a voltage-independent potassium channel activated by intracellular calcium

4.615

7.00E−05

2.00E−02

TM4SF19

Transmembrane 4 L six family member 19

Members of this family function in various cellular processes, including cell proliferation, motility, and adhesion via their interactions with integrins

−1.632

9.70E−05

2.60E−02

DKK3

Dickkopf Wnt signaling pathway inhibitor 3

Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt

−1.57

9.90E−05

2.60E−02

GLDC

Glycine dehydrogenase (decarboxylating)

The glycine cleavage system catalyzes the degradation of glycine

2.858

1.00E−04

2.70E−02

LOC400931

−1.978

1.40E−04

3.30E−02

GFPT2

Glutamine-fructose-6-phosphate transaminase 2

Controls the flux of glucose into the hexosamine pathway

−2.417

1.40E−04

3.40E−02

MDGA1

MAM domain containing glycosylphosphatidylinositol anchor 1

Plays a role in the formation or maintenance of inhibitory synapses

1.599

1.60E−04

3.80E−02

G0S2

G0/G1 switch 2

Promotes apoptosis

1.555

1.80E−04

4.20E−02

SLC1A7

Solute carrier family 1 (glutamate transporter), member 7

Transports L-glutamate

−1.743

2.20E−04

4.70E−02

  1. logFC logarithmic fold change, FDR false discovery rate