Table 1 Dysregulated proteins within PTHS patient-derived muscle biopsy associated with inflammatory processes
From: Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome
UniProt Entry | Protein Accession Number | OMIM# | Gene Name | Patient vs. Control | p-Value | Dysregulation status |
|---|---|---|---|---|---|---|
IGHA1 | P01876 | 146,900 | IGHA1 | 7.26 | 0.000 | upregulated |
IGHM | P01871 | 147,020 | IGHM | 6.29 | 0.000 | upregulated |
IGHA2 | P01877 | 147,000 | IGHA2 | 5.85 | 0.000 | upregulated |
IGLL5 | B9A064 | NA | IGLL5 | 4.78 | 0.000 | upregulated |
IGHG4 | P01861 | 147,130 | IGHG4 | 4.59 | 0.000 | upregulated |
IGHG1 | P01857 | 147,100 | IGHG1 | 4.31 | 0.000 | upregulated |
IGHG2 | P01859 | 147,110 | IGHG2 | 4.26 | 0.000 | Upregulated |
LV147 | P01700 | NA | IGLV1-47 | 4.20 | 0.000 | upregulated |
KV320 | P01619 | NA | IGKV3-20 | 3.87 | 0.000 | upregulated |
IGLC2; IGLC3 | P0DOY2; P0DOY3 | NA | IGLC2; IGLC3 | 3.66 | 0.000 | upregulated |
HV551 | A0A0C4DH38 | NA | IGHV5-51 | 3.24 | 0.000 | upregulated |
CO4B | P0C0L5 | 120,820 | C4B | 3.18 | 0.018 | upregulated |
HV366; HV353; HV333; HVC33 | A0A0C4DH42; P01767; P01772; P0DP02 | NA | IGHV3-66; IGHV3-53; IGHV3-33; IGHV3-30–3 | 2.76 | 0.011 | upregulated |
IGKC | P01834 | NA | IUGKC | 2,63 | 0.000 | upregulated |
CO4A | P0C0L4 | 120,810 | C4A | 2,53 | 0.006 | upregulated |
HV315 | A0A0B4J1V0 | NA | IGHV3-15 | 2,37 | 0.007 | upregulated |
HV434 | P06331 | NA | IGHV4-34 | 2,09 | 0.023 | upregulated |