### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PIK3CA) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PIK3CA" "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha" "3" "q26.32" "unknown" "LRG_310" "UD_144431125433" "" "" "" "1" "8975" "5290" "171834" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-04 15:38:01" "" "" "00005" "2021-09-08 13:24:15" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000025" "PIK3CA" "phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha" "002" "NM_006218.3" "" "NP_006209.2" "" "" "" "-157" "8936" "3207" "179148523" "179240093" "00001" "2020-11-04 15:38:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019" "PIK3CA" "phosphoinositide-3-kinase, catalytic, alpha polypeptide" "" "" "" "" "" "00001" "2020-11-04 15:36:13" "" "" "00021" "-" "Breast cancer" "AD;SMu" "114480" "breast" "" "" "00001" "2020-11-05 12:11:17" "00001" "2021-04-07 14:45:56" "00022" "HGSOC" "high grade serous ovarian cancer" "" "" "" "" "" "00001" "2020-11-08 09:34:16" "" "" "00028" "CRC" "colorectal , cancer" "" "" "" "" "" "00001" "2020-11-25 14:13:05" "00001" "2020-12-14 10:52:44" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PIK3CA" "00019" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000131" "" "" "" "1" "" "00002" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}" "" "" "Malaysia" "" "" "" "00000140" "" "" "" "1" "" "00002" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}" "" "" "Malaysia" "" "" "F" "00000145" "" "" "" "1" "" "00002" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}" "" "" "Malaysia" "" "" "?" "00000185" "" "" "" "1" "" "00002" "{DOI:Yock Ping Chow et al. (2018):10.36877/pmmb.a0000014}" "" "" "Malaysia" "" "" "F" "00000251" "" "" "" "1" "" "00002" "Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)" "" "" "Malaysia" "" "" "F" "00000252" "" "" "" "1" "" "00002" "Chai Boon Lee et al. 2019 (https://medic.upm.edu.my/upload/dokumen/2019100109012514_MJMHS_0054.pdf)" "" "" "Malaysia" "" "" "M" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000131" "00019" "00000140" "00022" "00000145" "00021" "00000185" "00021" "00000251" "00028" "00000252" "00028" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00019, 00021, 00022, 00028 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000060" "00019" "00000131" "00002" "Oncogenic mutation in OSCC" "" "0000000062" "00021" "00000145" "00002" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000146" "00000131" "1" "00002" "00002" "2020-11-04 15:51:07" "" "" "PCR;SEQ" "DNA" "0000000155" "00000140" "1" "00002" "00002" "2020-11-08 14:10:34" "" "" "SEQ-NG;PCR" "DNA" "0000000160" "00000145" "1" "00002" "00002" "2020-11-09 15:41:54" "" "" "SEQ" "DNA" "0000000200" "00000185" "1" "00002" "00002" "2020-11-25 10:35:12" "" "" "PCR;SEQ" "DNA" "0000000266" "00000251" "1" "00002" "00002" "2020-12-14 10:56:36" "" "" "IHC;SEQ-NG" "DNA" "0000000267" "00000252" "1" "00002" "00002" "2020-12-14 11:03:39" "" "" "IHC;SEQ-NG" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000000146" "PIK3CA" "0000000155" "PIK3CA" "0000000160" "PIK3CA" "0000000200" "PIK3CA" "0000000266" "PIK3CA" "0000000267" "PIK3CA" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 17 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000000678" "0" "90" "3" "179234297" "179234297" "subst" "0" "00002" "PIK3CA_000002" "g.179234297A>G" "2/7" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121913279}, {OMIM:171834:0001}, {ClinVar:13652}" "H1047R" "" "rs121913279" "0000000679" "0" "00" "3" "179218303" "179218303" "subst" "0" "00002" "PIK3CA_000001" "g.179218303G>A" "2/7" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs104886003}, {OMIM:171834:0003}, {ClinVar:13655}" "E545K" "" "rs104886003" "0000000680" "0" "90" "3" "179218307" "179218307" "subst" "0" "00002" "PIK3CA_000003" "g.179218307A>G" "1/7" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs397517201}, {ClinVar:45466}" "Q546R" "" "rs397517201" "0000000681" "0" "00" "3" "179234286" "179234286" "subst" "0" "00002" "PIK3CA_000004" "g.179234286G>A" "1/7" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121913283}, {ClinVar:179173}" "M1043I" "" "rs121913283" "0000000730" "0" "00" "3" "179234232" "179234232" "subst" "0" "00002" "PIK3CA_000009" "g.179234232C>T" "1" "{PMID:Nurul-Syakima Ab Mutalib et al. (2014):25404506}{dbSNP:rs17849079}" "178952020C > T" "" "rs17849079" "0000000750" "0" "90" "3" "179218268" "179218268" "subst" "0" "00002" "PIK3CA_000005" "g.179218268C>T" "1/6" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}" "A533V" "" "rs387907232" "0000000751" "0" "90" "3" "179218309" "179218309" "subst" "0" "00002" "PIK3CA_000006" "g.179218309G>A" "1/6" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}" "E547K" "" "rs1278327904" "0000000752" "0" "90" "3" "179234297" "179234297" "subst" "0" "00002" "PIK3CA_000002" "g.179234297A>G" "2/6" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}, {dbSNP:rs121913279}, {OMIM:171834:0001}, {ClinVar:13652}" "H1047R" "" "rs121913279" "0000000753" "0" "90" "3" "179234328" "179234328" "subst" "0" "00002" "PIK3CA_000007" "g.179234328G>A" "1/6" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}" "W1057STOP" "" "rs147550265" "0000000754" "0" "90" "3" "179234341" "179234341" "subst" "0" "00002" "PIK3CA_000008" "g.179234341A>G" "1/6" "{PMID:Vincent Ching-Shian Leong et al. (2008):19027487}" "I1062V" "" "rs193920997" "0000000917" "0" "00" "3" "179218303" "179218303" "subst" "0" "00002" "PIK3CA_000001" "g.179218303G>A" "2/4" "{dbSNP:rs104886003}, {OMIM:171834:0003}, {ClinVar:13655}" "E545K" "" "rs104886003" "0000000918" "0" "90" "3" "179234297" "179234297" "subst" "0" "00002" "PIK3CA_000002" "g.179234297A>G" "1/4" "{dbSNP:rs121913279}, {OMIM:171834:0001}, {ClinVar:13652}" "H1047R" "" "rs121913279" "0000000919" "0" "70" "3" "179198937" "179198937" "subst" "0" "00002" "PIK3CA_000010" "g.179198937C>T" "1/4" "{dbSNP:rs749415085}, {ClinVar:376493}" "R38C" "" "rs749415085" "0000001030" "0" "00" "3" "179218294" "179218294" "subst" "0" "00002" "PIK3CA_000013" "g.179218294G>A" "1/7" "{PMID:Sharifah Nurain Syed Zanaruddin et al. (2013):24224046}, {dbSNP:rs121913273}, {OMIM:171834:0009}, {ClinVar:31944}" "E542K" "" "rs121913273" "0000001265" "0" "90" "3" "179218303" "179218303" "subst" "0" "00002" "PIK3CA_000001" "g.179218303G>A" "1/2" "{dbSNP:rs104886003}, {OMIM:171834:0003}, {ClinVar:13655}" "E545K" "" "rs104886003" "0000001266" "0" "90" "3" "179224091" "179224091" "subst" "0" "00002" "PIK3CA_000011" "g.179224091A>G" "1/2" "{dbSNP:rs181194055}, {ClinVar:456537}" "K733R" "" "rs181194055" "0000001267" "0" "90" "3" "179234323" "179234323" "subst" "0" "00002" "PIK3CA_000012" "g.179234323G>A" "1" "" "D1056N" "" "rs34671771" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PIK3CA ## Count = 17 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000000678" "00000025" "90" "3140" "0" "3140" "0" "c.3140A>G" "-" "p.(His1047Arg)" "r.(?)" "" "" "{ClinVar:13652}" "0000000679" "00000025" "00" "1633" "0" "1633" "0" "c.1633G>A" "-" "p.(Glu545Lys)" "r.(?)" "" "" "{ClinVar:13655}" "0000000680" "00000025" "90" "1637" "0" "1637" "0" "c.1637A>G" "-" "p.(Gln546Arg)" "r.(?)" "" "" "{ClinVar:45466}" "0000000681" "00000025" "00" "3129" "0" "3129" "0" "c.3129G>A" "-" "p.(Met1043Ile)" "r.(?)" "" "" "{ClinVar:179173}" "0000000730" "00000025" "00" "3075" "0" "3075" "0" "c.3075C>T" "-" "p.(=)" "r.(=)" "" "" "{ClinVar:45468}" "0000000750" "00000025" "90" "1598" "0" "1598" "0" "c.1598C>T" "-" "p.(Ala533Val)" "r.(?)" "" "" "" "0000000751" "00000025" "90" "1639" "0" "1639" "0" "c.1639G>A" "" "p.(Glu547Lys)" "r.(?)" "" "" "" "0000000752" "00000025" "90" "3140" "0" "3140" "0" "c.3140A>G" "" "p.(His1047Arg)" "r.(?)" "" "" "{ClinVar:13652}" "0000000753" "00000025" "90" "3171" "0" "3171" "0" "c.3171G>A" "-" "p.(Trp1057*)" "r.(?)" "" "" "" "0000000754" "00000025" "90" "3184" "0" "3184" "0" "c.3184A>G" "" "p.(Ile1062Val)" "r.(?)" "" "" "" "0000000917" "00000025" "00" "1633" "0" "1633" "0" "c.1633G>A" "-" "p.(Glu545Lys)" "r.(?)" "" "" "{ClinVar:13655}" "0000000918" "00000025" "90" "3140" "0" "3140" "0" "c.3140A>G" "-" "p.(His1047Arg)" "r.(?)" "" "" "{ClinVar:13652}" "0000000919" "00000025" "70" "112" "0" "112" "0" "c.112C>T" "-" "p.(Arg38Cys)" "r.(?)" "" "" "{ClinVar:376493}" "0000001030" "00000025" "00" "1624" "0" "1624" "0" "c.1624G>A" "-" "p.(Glu542Lys)" "r.(?)" "" "" "{ClinVar:31944}" "0000001265" "00000025" "90" "1633" "0" "1633" "0" "c.1633G>A" "" "p.(Glu545Lys)" "r.(?)" "" "" "{ClinVar:13655}" "0000001266" "00000025" "90" "2198" "0" "2198" "0" "c.2198A>G" "" "p.(Lys733Arg)" "r.(?)" "" "" "{ClinVar:456537}" "0000001267" "00000025" "90" "3166" "0" "3166" "0" "c.3166G>A" "" "p.(Asp1056Asn)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000146" "0000000678" "0000000146" "0000000679" "0000000146" "0000000680" "0000000146" "0000000681" "0000000146" "0000001030" "0000000155" "0000000730" "0000000160" "0000000750" "0000000160" "0000000751" "0000000160" "0000000752" "0000000160" "0000000753" "0000000160" "0000000754" "0000000200" "0000000917" "0000000200" "0000000918" "0000000200" "0000000919" "0000000266" "0000001265" "0000000266" "0000001266" "0000000267" "0000001267"