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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