{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"dataset_type":["Illumina HiSeq 2000;"],"full_dataset_link":["https://ega-archive.org/datasets/EGAD00001001009"],"sample_count":["4"],"description":["EGA dataset EGAD00001001009"],"repository":["EGA"],"title":["Exome sequencing"],"pubmed_abstract":["Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. Compared with wild-type protein, SEMA4A(V78M) demonstrates significantly increased MAPK/Erk and PI3K/Akt signalling as well as cell cycle progression of SEMA4A-deficient HCT-116 colorectal cancer cells. In a cohort of 53 patients with FCCTX, we depict two further SEMA4A mutations, p.Gly484Ala and p.Ser326Phe and the single-nucleotide polymorphism (SNP) p.Pro682Ser. This SNP is highly associated with the FCCTX phenotype exhibiting increased risk for colorectal cancer (OR 6.79, 95% CI 2.63 to 17.52). Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families."],"pubmed_title":["Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X."],"pubmed_authors":["Schulz Eduard E, Klampfl Petra P, Holzapfel Stefanie S, Janecke Andreas R AR, Ulz Peter P, Renner Wilfried W, Kashofer Karl K, Nojima Satoshi S, Leitner Anita A, Zebisch Armin A, Wölfler Albert A, Hofer Sybille S, Gerger Armin A, Lax Sigurd S, Beham-Schmid Christine C, Steinke Verena V, Heitzer Ellen E, Geigl Jochen B JB, Windpassinger Christian C, Hoefler Gerald G, Speicher Michael R MR, Boland C Richard CR, Kumanogoh Atsushi A, Sill Heinz H"],"name_synonyms":["Vasp, VASP, DmelCG15112, ENHANCER OF ATNSI ACTIVITY, Data Set, MUG., uracil mismatch repair protein, MENA, NDPP1, l(2)02029, Enb, enb, ENA, Ena, CG15112, GU mismatch-specific uracil-DNA glycosylase activity, ENA/VASP"],"description_synonyms":["Networks, MGC130048, Complete Exome Sequencings, Family Member, Kinship, SGCG_HUMAN, whole blood, Family Research, 35 kDa dystrophin-associated glycoprotein, Complete Exome, Blood, Exome, familial, SG-gamma, A4, Network, TYPE, SGCG, Family Members, DAGA4, colorectal cancer, Exome Sequencing, PBMC, 35DAG, Life Cycle, sarcoglycan, Whole Transcriptome, Transcriptome Sequencing, LGMD2C., MAM, gamma-SG, Filiation, SCG3, Family Life Cycle, hereditary colorectal cancer, gamma sarcoglycan, WES, Complete Transcriptome, Complete, Complete Transcriptome Sequencing, Exome Sequencings, Peripheral Blood, Kinship Network, DMDA1, Research, Complete Exome Sequencing, Whole Transcriptome Sequencing, gamma (35kDa dystrophin-associated glycoprotein), Sequencing, Reticuloendothelial System, Life Cycles, Whole Exome, DMDA, Families, 35kD dystrophin-associated glycoprotein, Whole, PBMCs, SCARMD2, Whole Exome Sequencing, gamma-sarcoglycan, Kinship Networks, Family Life Cycles, Family, Transcriptome Sequencings, Relatives"],"pubmed_title_synonyms":["SEMB, MGC130048, gamma sarcoglycan, RP35, Materials, Genetic, SGCG_HUMAN, DMDA1, 35 kDa dystrophin-associated glycoprotein, familial, SG-gamma, A4, Gene, INSDC_feature:gene, gamma (35kDa dystrophin-associated glycoprotein), Cistrons, TYPE, SGCG, DAGA4, colorectal cancer, DMDA, CORD10, Material, 35kD dystrophin-associated glycoprotein, SEMAB, SCARMD2, 35DAG, gamma-sarcoglycan, Genetic Materials, Cistron, sarcoglycan, LGMD2C., MAM, gamma-SG, SCG3, Genetic Material, hereditary colorectal cancer"],"pubmed_abstract_synonyms":["Colorectal Neoplasm, DmErk, extracellular signal-regulated kinase activity, PRKBA, pp44mapk, Akt/PKB, dP60, Vps34, Tyro5, DAKT1/PKB, A4, BcDNA:LD15217, Tumor, AKT1, CG30327, VPS34, 11621, Prp4 protein kinase activity, Mutations, PI-3 kinase, p110-alpha, LeMPK3, ATP-protein transphosphorylase activity, p44mpk, Germline, ATP:protein phosphotransferase (non-specific) activity, Dp38, SAPK2, SEM, Sem, Colorectal Tumors, MAP-k, Cell Division Cycles, gamma sarcoglycan, Dp60, pp42, PI3K_59F, Comparative Genomics, EK5, Dsor2, Colorectal Carcinomas, PI3-kinase activity, Colorectal Tumor, sem, PI3Kgamma, Germ-Line, RacPK, MCAP, PI3K 68D, Nucleotide, ATP - 1-phosphatidyl-1D-myo-inositol 3-phosphotransferase activity, colorectal (colon or rectal) cancer, single organism signaling, Tumors, ERK-A, p82 kinase activity, dVps34, dpERK, dpErk, rea, familial, betaIIPKC, ERK-2, p50alpha, DmMAPK, PMK-2, dp-ERK, PMK-1, CG2699, DmelCG5373, PMK-3, Wee-kinase activity, AKT/PKB, C530050K14, type-1 PI3K, pMAPK, pMapK, p-Akt, sarcoglycan, Colorectal Cancers, nucleotides, polyposis, Carcinomas, CG11621, Dmel_CG6393, DmERKA, rl/MAPK, non-specific serine/threonine protein kinase activity, l(2)41Ac, dAKT/dPKB, PKB/dAKT, cancer of large bowel, DmelCG4141, F8A5_4, C78273, APDS, Phenotypes, CT34260, dpERk, CORD10, 35kD dystrophin-associated glycoprotein, serine-specific protein kinase activity, PI3KBETA, SAPK, HIPK2, cytidine 3', cancer of the large bowel, Wee 1-like kinase activity, 9030612K14Rik, RAC-ALPHA, DmelCG4006, RP35, Colorectal Cancer, glycogen synthase A kinase activity, Neoplasms, glycogen synthase kinase 3 activity, 12559, protein-containing complex, phosphorylase b kinase kinase activity, EK2-1, colorectal cancer, Germ Line, PIK3, Structural, AA407128, dVps34/PI3K59F, Pi3Kp60, PI3K-dp110, SEMAB, Functional, Gene Products, Prkm1, dPI3K, anon-92Ed, MAM, gamma-SG, ribosomal protein S6 kinase II activity, increase in risk, Backgrounds, Erk, ERK, PRKM1, class I, Cycles, PRKM2, protein-serine kinase activity, STK32, PCBC, Cell Division Cycle, cell-division cycle, Pi3Kp110, erk, cancer of the large intestine, P110BETA, PI3K21B, protein-cysteine kinase activity, AKT, Akt, Germline Mutation, 65K, Hpr kinase activity, CG42257, Dmel_CG30327, rll, snp, STK26, MCM, p38-2, constitutitional genetic, myelin basic protein kinase activity, Cancer, Cpk, cg11478, DRT, AA414921, 35 kDa dystrophin-associated glycoprotein, akt, class II, type III phosphoinositide 3-kinase activity, Proteins, stress-activated kinase activity, MAP-2 kinase activity, DAkt1, DAKT1, protein serine kinase activity, PI(3)K, Cell, SGCG, protein phosphokinase activity, cpk, PI3K-92E/Dp110, PIK3C1, PKB, PKA, native protein, CWS6, PKC, CWS5, stress-activated protein kinase activity, mapk2, mapk1, PKB-ALPHA, Neoplasm, CG4006, CRC, Mutation, protein kinase p58 activity, serine/threonine protein kinase activity, Dakt1, CG12559, DMDA1, increased number, P42MAPK, Colorectal Carcinoma, dpERK1, Cancers, DmelCG11621, dsk1, 5'-cyclic monophosphate-responsive protein kinase activity, atypical PKC activity, signalling, Gene Proteins, caPI3K, dAkt/PKB, AU018647, colon cancer, CLOVE, signalling process, dpMAPK, DmVps34, IMD14, PI3K_68D, PI3K-92D, Dmp110, hereditary, protein serine-threonine kinase activity, SAP kinase activity, glycogen synthase kinase activity, MGC130048, protein kinase A activity, CG5373, HCT116, ATVPS34, Mpk2, p42mapk, PI3K, Dp110, protein, SR2-1, CG11478, Background, PHOSPHATIDYLINOSITOL 3-KINASE, DmelCG2699, F8A5.4, kinase-related transforming protein, Germ-Line Mutations, p110alpha, mitogen-activated protein kinase activity, phosphatidylinositol 3-kinase activity, protein aggregate, mpk1, increased, DmelCG42257, Erk/Map kinase, Pi3K92D, CG4141, catalyst activity, DERK-A, Pi3k, E(sina)7, PI[[3]]K, Rl, PKB|Akt, large intestine cancer, Raf kinase activity, genetic, MP kinase activity, serine kinase activity, DERK, p55alpha, atypical protein kinase C activity, signaling process, Cell Cycles, MBP kinase II activity, gamma-sarcoglycan, mitogen-activated S6 kinase activity, protein-aspartyl kinase activity, dERK, Pi3K, PI3k, MCMTC, somatic mutation, Carcinoma, PI3K68D, MAP kinase 2 activity, Genomics, dakt, Mapk, P110DELTA, PtdIns-3-kinase activity, Comparative, SG-gamma, Erk1, ERK1, ERK2, mapk1a, Erk2, Functional Genomics, l(3)89Bq, vacuolar protein sorting 34, Division Cycles, dPIK, 1-phosphatidylinositol 3-kinase activity, M phase-specific cdc2 kinase activity, PKB/Akt, PKB/AKT, p41mapk, dAkt, dAKT, mapk1b, MapK, MAPK, CG6393, DAkt, serine protein kinase activity, erk2, mapk, l(3)04226, ERKa, phosphorylase B kinase kinase activity, DPKB, BcDNA:RE08694, HCT-116, protein glutamyl kinase activity, pAkt, p85alpha, Division Cycle, l(2R)EMS45-39, susceptibility to, CAPB, DmelCG12559, p38, PI3K 68_D, gamma (35kDa dystrophin-associated glycoprotein), DpErk, DpERK, ErkA, ERKA, hydroxyalkyl-protein kinase activity, WEE1Hu, p110D, DMDA, Dakt, Patient, epsilon PKC, p41, p40, dPKB, inherited genetic, cancer of large intestine, p120-PI3K, droPIK57, accessory, pERK, DRAC-PK85, ribosomal S6 protein kinase activity, calcium/phospholipid-dependent protein kinase activity, biological signaling, Genetic Backgrounds, SGCG_HUMAN, GroupII, PI3K92E, Gene, Pi3K_59F, type I phosphatidylinositol kinase activity, autosomal dominant, supernumerary, TYPE, phosphatidylinositol 3-kinase, DAGA4, Colorectal, Dpkb, Hek5, Client., p60, Cycle, 35DAG, serine(threonine) protein kinase activity, PHOSPATIDYLINOSITOL 3-KINASE, p42-MAPK, SCG3, Dp110/PI3K, hereditary colorectal cancer, T-antigen kinase activity, PI3K-68D/E, SEMB, galactosyltransferase-associated kinase activity, study, Germline Mutations, Genetic, xp42, Cell Division, PI3'K, p42 mitogen-activated protein kinase activity, CG18732, ATP:protein phosphotransferase (MAPKK-activated) activity, protein kinase (phosphorylating) activity, PI3K-68D, Raf-1, Clients, DRAC-PK, DmERK-A, casein kinase (phosphorylating) activity, dP110, ert1, 6330412C24Rik, protein complex, p120, prkm2, prkm1, CT39192, p110, Vps34p, Client, LGMD2C, p38delta, twitchin kinase activity, ATP:1-phosphatidyl-1D-myo-inositol 3-phosphotransferase activity, vps34, Protein, AP50 kinase activity, MBP kinase I activity, dp110, D-Akt, multiple polyps, PI3CG, Germ Line Mutation, Xp42, PI-3-K, large bowel cancer, threonine-specific protein kinase activity, PI3K-59F, PI3K-Dp110, akt1, dAkt1, mitogen activated kinase activity, Su(Raf)2B, DRAC-PK66, class III, EY2-2, MAPK2, p110gamma, Protein Gene Products, present in greater numbers in organism, dakt1, D-ERK, ERT1, HCT 116, EPHT3, PKBalpha, SCARMD2, Structural Genomics, dAKT1, RAC, Rac, MAP kinase 1 activity, A-kinase activity"],"additional_accession":[]},"is_claimable":false,"name":"ena-DATASET-MUG-11-09-2014-07:42:30:338-15 - samples","description":"Exome sequencing of peripheral blood from 4 individuals of a family with familial colorectal cancer type X","dates":{"updated":"2017-07-26 15:39:25"},"accession":"EGAD00001001009","cross_references":{"TAXONOMY":["9606"],"pubmed":["25307848"],"EGA":["EGAC00001000072","EGAS00001000957"]}}