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Table 4 The top 10 down-regulated and up-regulated genes in POLR3B mutant patients

From: Intellectual disability associated with craniofacial dysmorphism due to POLR3B mutation and defect in spliceosomal machinery

Gene symbol

Foldchange

p_value

Function

Top biological pathway

Up-regulated

SLC12A1

15.2

5.00E−05

SLC12A1 (solute carrier family 12 member 1)

Cation-coupled Chloride cotransporters

PAX8

15

0.00095

PAX8 (paired box 8)

DNA-binding transcription factor activity and RNA polymerase II core promoter sequence-specific DNA binding

PAX8-AS1

9

0.01

PAX8-AS1 (PAX8 antisense RNA 1)

A potential regulator of PAX8

HLA-V

8

0.03295

HLA-V (major histocompatibility complex, class I, V (pseudogene))

Pseudogene

RP11-384K6.6

8

5.00E−05

 

Non-coding RNA

RP11-154J22.1

7.9

0.02655

 

Non-coding RNA

RPS3AP6

6

0.00385

 

RPS3A Pseudogene 6

MTRNR2L12

5.6

0.00435

MTRNR2L12 (MT-RNR2 like 12)

Pseudogene

C4BPA

5.4

0.0006

Complement Component 4 Binding Protein Alpha

RNA binding

RP1-283E3.4

5.2

0.03535

 

Pseudogene

Down-regulated

GAD1

22.1

0.0154

Glutamate decarboxylase 1

Pyridoxal phosphate binding

RP4-740C4.5

18.7

0.0368

 

pseudogene

IGHG1

8.9

5.00E−05

Immunoglobulin heavy constant gamma 1 (G1m marker)

Antigen binding

IGKV3-15

6.59

5.00E−05

Immunoglobulin kappa variable 3–15

Antigen binding

GCAT

6

5.00E−05

Glycine C-acetyltransferase

Pyridoxal phosphate binding

IGHV4-39

5

5.00E−05

Immunoglobulin heavy variable 4–39

Antigen binding

MYOM2

4

0.00035

Myomesin 2

Structural constituent of muscle

RP5-1198O20.4

4

0.0016

 

LincRNA

SULT1A1

4

5.00E−05

Sulfotransferase family 1A member 1

Sulfotransferase activity and flavonol 3-sulfotransferase activity

CCL3

3.9

0.00285

C–C motif chemokine ligand 3

Immune system, chemokine activity