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