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Table 2 List of interactors and binding domains, number of missense mutations, comparison observed/expected frequency, and pathway affected

From: Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance

Name of the interactor pVHL AA involved Missense mutations count N (%) Frequency of observed missense mutations compared to expected p-value Pathway of the interactor
CK2 S33, S38, S43 0 (0) lower ns Protein amino acid phosphorylation
GSK3 S68 1 (1.1) 1.8X higher ns Wnt signaling pathway
CK1 S72 1 (1.1) 1.8X higher ns Wnt signaling pathway
NEDD8 K159 1 (1.1) 1.8X higher ns Ubl conjugation pathway
KIFAP3 1–54 0 (0) lower ns Microtubule-based movement
HIF1αN 1–155 68 (77.3) 1.2X higher ** HIF1α pathway
VDU1/USP33 54–83 22 (25) 1.3X higher ns Ubl conjugation pathway
VDU2/USP20 54–83 22 (25) 1.3X higher ns Ubl conjugation pathway
RPB7 54–113 39 (44.3) 1.2X higher ns Regulatory RNA pathways
VHLAK 54–213 88 (100) equal not applicable Apoptosis
BCL2L11 55–143 62 (70.5) 1.3X higher ** Apoptosis
HIF1α 67–117 45 (51.1) 1.6X higher *** Hif1_tf pathway
EPAS1 (HIF2α) 67–117 45 (51.1) 1.6X higher *** Vegfr1_2 pathway
RPB1 60–120 53 (60.2) 1.6X higher *** Regulatory RNA pathways
PRKCZ 87–122 30 (34.1) 1.5X higher ** Antiapoptosis, intracellular Signaling
CARD9 92–121 22 (25) 1.3X higher ns NFKB and MAPK signalling
TUBA4A 95–123 20 (22.7) 1.3X higher ns MT stabilization and dynamic cell polarity
KIF3A 95–123 20 (22.7) 1.3X higher ns Hedgehog_gli pathway
SP1 96–122 20 (22.7) 1.3X higher ns TGF-beta signaling pathway
JADE1 96–122 20 (22.7) 1.3X higher ns Apoptosis
PRKCD 113–122, 130–154 26 (29.5) 1.4X higher ns Regulation of receptor activity, senescence
aPKC-λ/ι 114–122 16 (18.2) 3.2X higher *** Signalling by NGF
EEF1α1 114–138 23 (26.1) 1.7X higher ** Protein biosynthesis
CCT-ζ-2 116–119, 148–155 13 (14.8) 2X higher ** Chaperone-mediated protein complex assembly
TBP1 136–154 7 (8) 1.5X lower ns Signaling by Wnt, DNA Replication, Apoptosis
p53 154–163 8 (9.1) 1.5X higher ns Apoptosis
Nur77 155–213 20 (22.7) 1.6X lower ** MAPK and NGF signaling pathways
EloC 157–171 11 (12.5) 1.3X higher ns Ubl conjugation pathway
HuR (RNA binding protein) 157–184 19 (21.6) 1.2X higher ns mRNA stabilization
EloB 170–174 1 (1.1) 2.8X lower ns Ubl conjugation pathway
Cullin2 181–184 6 (6.8) 2.7X higher ** Ubl conjugation pathway
VBP1 187–213 1 (1.1) 14.9X lower *** Morphogenesis
  1. 14 splice site mutations and a frameshift mutation for which the position of the affected amino acid cannot be determined and the missense mutation c.642 A > C/ p.X214Cys are excluded from this table. p-value summary: P-value: * < 0.05, ** < 0.01, *** < 0.001, ns “not significant”
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BMC Cancer

ISSN: 1471-2407

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