From: Disease-modifying factors in hereditary angioedema: an RNA expression-based screening
Family DR | Genes upregulated IH the symptomatic palielit DRO | |||
---|---|---|---|---|
Gene | FC | Adjpvalue | Description | |
Type I Interferon signaling pathway and /or Response to virus p value:7.3 × 10 -7 FDR: 1.2 × 10 -4 | ISG15 | 11.87 | 0.0012 | ISG15 ubiquitin-likemodifier(ISG15). [NM_005101] |
HERC5 | 11.63 | 0.0094 | hect domain and RID 5 (HERC5). [NM_U 16323] | |
OAS3 | 11.00 | 0,0094 | 2’-5’-oligoadenylate synthetase 3, l00kDa (OAS3) [NM_006187] | |
IFI44 | 10.70 | 0,0318 | interferon-induced protein 44 (IFI44). [NM_006417] | |
1F1141. | 17.03 | 0.0267 | interferon-induced protein 44-like (IFI44L), mRNA [NM_006820] | |
MXI | 9.25 | 0,0241 | myxovirus resistance 1 (MX1), [NM_002462] | |
1F16 | 8.57 | U.U1M | Interferon, alpha-inducible protein 6 (IFI6) variant 3 [NM_022873] | |
IFIT3 | 861 | 00588 | interfernn-indnced protein with tetratricnpeptide repeals 3 (IFIT3). [NM_00 1549] | |
IFIT2 | 7.26 | 0,0096 | interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), [NM_00 1547] | |
OASL | 7.21 | 0,0485 | 2’-5’-oligoadenylate synthetase-like (OA.SL), variant 1, [NM 0037331] | |
USP18 | 6.23 | 0,0080 | ubquitin specific peptidase 18 (USP18), varient 1, [NM_017414] | |
OAS2 | 5.89 | 0, 050 | 2’-5’-oligoadenylate synthetase 2 69/71/kDA (OAS2), variant 3, [NM_001032731] | |
XAF1 | 4.96 | 0,0116 | XIAP associated factor 1 (XAF1), variant 1, [NM 017523] | |
RSAD2 | 29.85 | 0,0128 | radical S-alenosyl methionine domain containing 2 (RSAD2 [NM_0S0657] | |
IFIT1 | 20.25 | 0,0241 | interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), [NM 001548] | |
IFIT35 | 2.71 | 0.050 | interferon-induced protein 35 (IF135) [NM 005533] | |
Endoplasmic reticulum unfolded protein response pvalue :3.8 × 10 -2 FDR: 4 × 10 -2 | HSP90AB1 | 7.84 | 1,35E-06 | heat shock protein 9OkDa alpha, class B member 1 (HSP9OAB 1) [NM 007355] |
DERL3 | 9.92 | 0,0116 | Derl-lilce domain family, member 3 (DERL3), variant 3, rnRNA [NM_198440] | |
Nucleic acid binding and/or Response to virus pvalue: 2.0 × 10 -4 FDR1.5 × 10 -2 | RIG-1 | 3.68 | 0,0496 | retinoic acid inducible gene I (RIG-I) [NM_014314] |
DHX58 | 3.23 | 2,44E-05 | DEXH (ASp-Glu-X-His) box polypeptide 58 (DHX58),[NM_024119] | |
ZBP1 | 3.36 | 0,0012 | Z-DNA binding protein 1 (ZBP1), variant 1, [NM 030776] | |
EIF2AK2 | 4.79 | 0,0 182 | eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), [NM_002759] | |
PARP12 | 2.50 | 0,050 | poly (ADP-ribose Polyrnerace family. member 12 (PARP12). [NM_022750] | |
Other | CMPK2 | 14.02 | 0,0036 | cytidine monophosphate kinace 2. mitochondrial (CMPK2L [NM_207315] |
LAMP3 | 8.28 | 0,0128 | lysosornal-acsociated membrane protem 3 (LAMP3), [NM_0 14398] | |
SPATS2T | 5.77 | 0,0080 | spermatogenisis associated serine-rich 2-like (SPAT2L) [NM_001100422] | |
USP4I | 4.53 | 0,0182 | partial mRNA for ubiquitin-specific protease 41 (USP41 gene). [AJ586979] | |
PROM2 | 5.73 | 0,0406 | prominin 2 (PROM2) variant 3, [NM_144707] | |
DNHD1 | 5.58 | 0,0241 | dynein heavy chain domain 1 (DNHD1), variant 2, [NM 173589] | |
L0C64494 | 5.09 | 0,0249 | cDNA FLJ455O9 fis, clone BRTHA2020811. [AK127417] | |
IFIT5 | 4.86 | 0.0 128 | interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), [NM0 12420] | |
LY6E | 4.44 | 0,0101 | lymphocyte antigen 6 complex. locus E çLY6E), variant I, [NM U02.s4b] | |
INPP5F | 3.48 | 0,0122 | inosito1po1yphnphale-S-phnsphalaceF(fNPPSF) variant 1 [N1\it 014917] | |
TTC21A | 3.14 | 0,0462 | tetratricopeptide repeat domain 21A (TTC21A), variant 2, [NM 145755] | |
FGD2 | 2.71 | 0,0560 | FYVE, RhoGEF and PH domain containing 2 (FDG2) [NM_173558] | |
Family Q | Genes upregulated in asymptomatic versus severely affected individuals | |||
Biological process | Gene | FC | Adjpvalue | Description |
SMAD5 | 5.35 | 0.0140 | SMAD family member 5 (NM_001001419) | |
KLF15 | 3.58 | 0.0142 | Kruppel-like factor 15 (006814) | |
ATXN7 | 10.26 | 0.0144 | ataxin 7 (NM_001128149) | |
UTF1 | 4.59 | 0.0158 | undifferentiated embronic cell transcription factor (NM_003577) | |
ALX4 | 4.00 | 0.0179 | ALX homeobox 4 (ENST00000329255) | |
MAFA | 3.65 | 0.0182 | v-maf musculoaponeuroticfibrosarcoma oncogene homolog A(NM_201589) | |
RARA | 17.22 | 0.0219 | retinoic acid receptor, alpha (NM_001024809) | |
Tead1 | 5.20 | 0.0220 | TEA domain family member 1(NM_021961) | |
NEUROG3 | 5.51 | 0.0237 | neurogenin 3 (NM_020999) | |
DYRK1B | 4.48 | 0.239 | dual-specificity tyrosine -(Y) phosporylation regulated kinese 1B (NM_004714) | |
EIE5AL1 | 23.96 | 0.2399 | eukaryotic translation initiation factor 5A (NM_001099692) | |
Transcription activator activity pvalue : 5.7 × 10- 4 FDR: 7.1 × 10 -2 | MYOG | 16.54 | 0.0239 | myogenin (mygenic factor 4 ) (NM_002479) |
GLI2 | 6.86 | 0.0258 | GLI family zinc finger 28 (NM_005270) | |
TFE3 | 3.48 | 0.0272 | transcription factor binding to IGHM enhancer 3(NM00651) | |
EVXI | 7.82 | 0.0273 | even-skipped homebox 1 (NM_005163) | |
FOXC1 | 4.44 | 0.0291 | forkhead box C1 (NM_001989) | |
HRH1 | 2.91 | 0.0303 | histamine receptor H1 (NM_001098213) | |
AKT1 | 4.76 | 0.0303 | v-akt murine thymoma viral oncogene homolog 1(NM_005163) | |
CTRC1 | 7.89 | 0.3311 | CREB regulated transcription coactivator 1 (NM_001098482) | |
CARD11 | 7.10 | 0.0318 | caspase recruitement domain family, member 11 (AK097139) | |
CD80 | 3.53 | 0.0335 | CD80 molecule RG Homo sapiens (NM_001042454) | |
IL17F | 4.13 | 0.0351 | interleukin 17F (NM_021784) | |
RARG | 7.08 | 0.369 | retinoic acid receptor, gamma (NM_000966) | |
TGTBI111 | 4.38 | 0.0369 | transforming growth factor beta | |
FOXA2 | 2.89 | 0.0411 | forkhead box A2 (NM_021784) | |
BHLHE23 | 5.27 | 0.0420 | basic helix-loop-helix- family, member e23 (NM_080606) | |
Structural molecule activity pvalue: n.s. FDR: n.s. | SPTBN2 | 3.36 | 0.0084 | spectrin, beta, non-erythocytic 2 (NM_006946) |
AGRN | 5.02 | 0.0088 | agrin (NM_198576) | |
CLDN19 | 3.82 | 0.0094 | claudin 19 (NM_001123395) | |
KRT8 | 3.48 | 0.0102 | keratin 8 (NM_002273) | |
COL5A1 | 6.53 | 0.0142 | collagen, type V, alpha 1 (NM_000093) | |
KRTAP1 | 3.54 | 0.00170 | keratin associated protein 1-3 (NM_030966) | |
KRT7 | 8.75 | 0.0179 | keratin 7 (NM_005556) | |
EMILIN1 | 3.04 | 0.0186 | elastin mocrofibril interfacer 1 (NM_007046) | |
COL27A1 | 6.30 | 0.0204 | collagen, type XXVII, alpha 1 (NM 032888) | |
MUC6 | 4.66 | 0.0271 | mucin 6 (NM_005961) | |
KRT1 | 6.10 | 0.0307 | keratin 1 (NM_006121) | |
KRT73 | 5.67 | 0.0307 | lamin A/C (NM_170707) | |
MUC3B | 4.89 | 0.0311 | mucin 3B, cell surface associated (ENST00000379458) | |
COL11A2 | 8.72 | 0. 0369 | collagen, type XI, alpha 2 (NM_001163771) | |
EVPL | 4.72 | 0.0401 | evoplakin (NM_170707) | |
KRT81 | 5.89 | 0.425 | keratin 81 (NM_002281) | |
CHAD | 3.72 | 0.0473 | chondroadherin (NM_001267) | |
LAMC3 | 4.26 | 0.0473 | laminin, gamma 3 (NM_006059) |