### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERPINE1) # 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}}" "SERPINE1" "serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1" "7" "q22.1" "unknown" "NG_013213.1" "UD_134408514505" "" "https://www.LOVD.nl/SERPINE1" "" "1" "8583" "5054" "173360" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SERPINE1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-14 11:57:27" "00000" "2024-04-19 20:27:30" ## 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}}" "00018725" "SERPINE1" "transcript variant 1" "001" "NM_000602.4" "" "NP_000593.1" "" "" "" "-157" "3033" "1209" "100770370" "100782547" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03311" "-" "deficiency, plasminogen activator inhibitor-1" "AD;AR" "613329" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SERPINE1" "03311" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00294218" "" "" "" "84" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294219" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305123" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00294218" "00198" "00294219" "00198" "00305123" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03311 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295386" "00294218" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295387" "00294219" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306252" "00305123" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 9 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000298121" "0" "10" "7" "100771717" "100771717" "subst" "0.0950331" "02325" "SERPINE1_000001" "g.100771717G>A" "" "" "" "SERPINE1(NM_000602.5):c.43G>A (p.A15T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101128436G>A" "" "benign" "" "0000307915" "0" "30" "7" "100773769" "100773769" "subst" "3.24905E-5" "01943" "SERPINE1_000002" "g.100773769G>C" "" "" "" "SERPINE1(NM_000602.4):c.339G>C (p.E113D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101130488G>C" "" "likely benign" "" "0000530121" "0" "10" "7" "100771717" "100771717" "subst" "0.0950331" "02327" "SERPINE1_000001" "g.100771717G>A" "" "" "" "SERPINE1(NM_000602.5):c.43G>A (p.A15T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101128436G>A" "" "benign" "" "0000652075" "1" "30" "7" "100771723" "100771723" "subst" "0.0285684" "03575" "SERPINE1_000003" "g.100771723G>A" "84/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "84 heterozygous; {DB:CLININrs6090}" "Germline" "" "rs6090" "0" "" "" "g.101128442G>A" "" "likely benign" "" "0000652076" "1" "30" "7" "100781413" "100781413" "subst" "0" "03575" "SERPINE1_000004" "g.100781413T>C" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs7241}" "Germline" "" "rs7241" "0" "" "" "g.101138132T>C" "" "likely benign" "" "0000669940" "3" "30" "7" "100771723" "100771723" "subst" "0.0285684" "03575" "SERPINE1_000003" "g.100771723G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs6090}" "Germline" "" "rs6090" "0" "" "" "g.101128442G>A" "" "likely benign" "" "0000802793" "0" "30" "7" "100771797" "100771797" "subst" "0" "01943" "SERPINE1_000005" "g.100771797G>A" "" "" "" "SERPINE1(NM_000602.4):c.123G>A (p.R41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802794" "0" "50" "7" "100773702" "100773702" "subst" "4.0823E-6" "01943" "SERPINE1_000006" "g.100773702A>T" "" "" "" "SERPINE1(NM_000602.4):c.272A>T (p.D91V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977425" "0" "50" "7" "100771790" "100771790" "subst" "0" "01804" "SERPINE1_000007" "g.100771790G>T" "" "" "" "SERPINE1(NM_000602.5):c.116G>T (p.(Gly39Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 SERPINE1 ## Count = 9 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000298121" "00018725" "10" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Ala15Thr)" "" "0000307915" "00018725" "30" "339" "0" "339" "0" "c.339G>C" "r.(?)" "p.(Glu113Asp)" "" "0000530121" "00018725" "10" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Ala15Thr)" "" "0000652075" "00018725" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" "" "0000652076" "00018725" "30" "1899" "0" "1899" "0" "c.*690T>C" "r.(=)" "p.(=)" "" "0000669940" "00018725" "30" "49" "0" "49" "0" "c.49G>A" "r.(?)" "p.(Val17Ile)" "" "0000802793" "00018725" "30" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Arg41=)" "" "0000802794" "00018725" "50" "272" "0" "272" "0" "c.272A>T" "r.(?)" "p.(Asp91Val)" "" "0000977425" "00018725" "50" "116" "0" "116" "0" "c.116G>T" "r.(?)" "p.(Gly39Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000295386" "0000652075" "0000295387" "0000652076" "0000306252" "0000669940"