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Table 4 Medium significance region genes that are absent from all somatic cancer gene databases

From: Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development

Gene Region p-value Dominant cancer type(s) Protein name Protein annotations Region annotations Indication of involvement in cancer
WASH3P 368–410 1.050*10−14 Renal cell carcinoma Putative WAS protein family homolog 3 Pseudogene homolog of WASP, nucleation-promoting factor of endosomes Missense mutations affect mainly one position. Region is part of Pfam-B conserved accross wide range of eukaryotes and probably disordered Some indication of possible involvement in tumors (PMID: 21208217)
FRG1B/C20orf80 40–101 7.492*10−14 Prostate cancer, Glioma Protein FRG1B Unknown Well distributed missense mutations in structured FRG1 domain, no known function, but conserved across eukar + some bact. Only based on mutation pattern, no cancer specific annotations
ANKRD36C/ENSG00000174501 626–634 2.620*10−12 Prostate cancer, Glioma Ankyrin repeat domain- containing protein 36C Unknown Well clustered missense mutation peaks in an unannotated, possibly disordered region of the protein Very pleriminaty indication of possible role in various cancer types
ZNF814 337-337 6.451*10−11 Pancreatic cancer, Squamous cell carcinoma Putative uncharacterized zinc finger protein 814 Acts as a trascription factor with specific DNA binding Sharp peak of missense mutations N-terminal of the zinc binding domains Very pleriminaty indication of possible role in some cancer types
RP1L1 1305–1361 1.654*10−9 Various Retinitis pigmentosa 1-like 1 protein Involved in axoneme assembly, photoreceptor cell development and retina development in camera-type eye Broad peak of missense mutations and indels in the central, possibly disordered region of the protein Indication of involvement in gastric and colorectar cancers (PMID: 23237666)
RRN3P2/ENSG00000103472 368–375 1.676*10−9 Prostate cancer RRN3 homolog, RNA polymerase I transcription factor pseudogene 2 Unknown Sharp peak of missense mutations in the RRN3 domain Unknown
MUC6 1873–1995 3.663*10−7 Prostate cancer Mucin 6 Modulates the composition of the protective mucus layer. Important in the cytoprotection of pithelial surfaces, used as tumor markers in a variety of cancers. May play a role in epithelial organogenesis. Broad peak of missense mutations in a possibly disordered region of the protein Known to be linked various forms of cancer (PMID: 21851820, PMID: 9650551)
EEF1B2 43-43 3.739*10−7 Prostate cancer Elongation factor 1-beta Translation elongation factor, guanine nucleotide exchange factor involved in the transfer of aminoacylated tRNAs to the ribosome Sharp peak of missense mutations in the N-terminal region of the protein Unknown
POTEC 477–511 4.504*10−7 Prostate cancer POTE ankyrin domain family member C Unknown Multiple peaks of missense mutations in the C-terminal disordered part of the protein, encompassing a possible DNA binding motif Unknown
EIF1AX 2–15 1.457*10−6 Thyroid cancer, Melanoma Eukaryotic translation initiation factor 1A, X-chromosomal Required for maximal rate of protein biosynthesis, enhances ribosome dissociation N-terminal disordered region, harboring many missense mutations Indication of involvement in melanoma (PMID: 24423917)
CS 183–187 1.670*10−6 Bile duct/gallbladder cancer Mitochondrial citrate synthase Involved in step 1 of the subpathway that synthesizes isocitrate from oxaloacetate Well localized peaks of missense mutations in the citrate synthase domain Indication of involvement in some cancers (PMID: 19647716)
RGPD8 1760-1760 2.200*10−6 Prostate cancer, Glioma RANBP2-like and GRIP domain-containing protein 8 Unknown Single peak of missense mutations at the C-terminal, possibly disordered region Very pleriminaty indication of possible marker role in some cancer types
KRTAP4-9 57-57 3.407*10−6 Breast cancer Keratin-associated protein 4–9 Part of an interfilamentous matrix, in which hair keratin intermediate filaments are embedded Peak of missense mutations Located in a potential breakpoint initiating ERBB2 amplification, which is known to be involved in breast cancer (PMID: 23181561)
KRTAP4-8 95-95 5.261*10−6 Glioma Keratin-associated protein 4–8 Peak of missense mutations
KRTAP9-9 18–30 9.921*10−6 Pancreatic cancer, Breast cancer Keratin-associated protein 9-9 Short region dominated by indels