### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = XPNPEP3) # 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}}" "XPNPEP3" "X-prolyl aminopeptidase (aminopeptidase P) 3, putative" "22" "q13.2" "unknown" "NG_028221.1" "UD_132118855710" "" "https://www.LOVD.nl/XPNPEP3" "" "1" "28052" "63929" "613553" "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/XPNPEP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-09 21:28:54" "00000" "2025-05-05 21:14:00" ## 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}}" "00022929" "XPNPEP3" "transcript variant 1" "001" "NM_022098.3" "" "NP_071381.1" "" "" "" "-101" "7908" "1524" "41253085" "41328823" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "03270" "NPHPL1" "nephronophthisis-like nephropathy, type 1 (NPHPL-1)" "AR" "613159" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "XPNPEP3" "03270" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00219399" "" "" "" "3" "" "00006" "{PMID:Olivé 2015:25801283}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "" "Spain" "" "0" "" "" "" "25801283-FamPatIII4" "00293133" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00377797" "" "" "" "1" "" "00000" "{PMID:Otto 2011:21068128}" "" "" "no" "Austria" "" "0" "" "" "" "" "00461048" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00219399" "00351" "00293133" "00198" "00377797" "04214" "00461048" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 03270, 04214 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000167937" "00351" "00219399" "00006" "Familial, autosomal recessive" "60y" "20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ..." "15y" "" "dyspnoea upon exertion" "" "" "" "" "" "" "protein aggregate myopathies" "" "0000272943" "04214" "00377797" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000220471" "00219399" "1" "00006" "00006" "2019-02-09 18:18:07" "00006" "2019-02-09 18:34:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "candidate gene screening and WES" "0000294301" "00293133" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000379001" "00377797" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PCR; SEQ; SEQ-NG-S" "DNA" "Blood" "" "0000462680" "00461048" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000220471" "TRIM54" "0000220471" "TRIM63" "0000379001" "XPNPEP3" "0000462680" "XPNPEP3" ## 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 = 22 "{{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}}" "0000315515" "0" "10" "22" "41310343" "41310343" "subst" "0.00183583" "02326" "XPNPEP3_000003" "g.41310343G>A" "" "" "" "XPNPEP3(NM_022098.4):c.1055+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40914339G>A" "" "benign" "" "0000455440" "0" "50" "22" "41303163" "41303163" "subst" "0" "00006" "XPNPEP3_000004" "g.41303163C>T" "" "{PMID:Olivé 2015:25801283}" "" "XPNPEP3 Arg276Cys" "" "Germline" "" "rs118098040" "0" "" "" "g.40907159C>T" "" "VUS" "" "0000572113" "0" "10" "22" "41256712" "41256712" "subst" "0.000919118" "01943" "DNAJB7_000002" "g.41256712A>G" "" "" "" "XPNPEP3(NM_001204827.1):c.95A>G (p.Q32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40860708A>G" "" "benign" "" "0000572114" "0" "30" "22" "41257393" "41257393" "subst" "0.0170995" "01804" "DNAJB7_000003" "g.41257393C>A" "" "" "" "DNAJB7(NM_145174.1):c.606G>T (p.(Lys202Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40861389C>A" "" "likely benign" "" "0000572117" "0" "30" "22" "41282309" "41282309" "subst" "0.00139586" "01943" "DNAJB7_000006" "g.41282309A>G" "" "" "" "XPNPEP3(NM_022098.3):c.590-8A>G, XPNPEP3(NM_022098.4):c.590-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40886305A>G" "" "likely benign" "" "0000650990" "1" "90" "22" "41320486" "41320486" "subst" "6.09261E-5" "03575" "XPNPEP3_000005" "g.41320486G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs267607179}" "Germline" "" "rs267607179" "0" "" "" "g.40924482G>T" "" "pathogenic" "" "0000681901" "0" "30" "22" "41322392" "41322392" "subst" "0.00177054" "02326" "DNAJB7_000007" "g.41322392C>G" "" "" "" "XPNPEP3(NM_022098.4):c.1477C>G (p.P493A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728184" "0" "50" "22" "41256682" "41256682" "subst" "6.78718E-5" "01943" "DNAJB7_000001" "g.41256682G>T" "" "" "" "XPNPEP3(NM_001204827.1):c.65G>T (p.G22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728185" "0" "70" "22" "41320486" "41320486" "subst" "2.03087E-5" "02327" "DNAJB7_000008" "g.41320486G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000792021" "0" "90" "22" "41278055" "41278055" "subst" "7.31553E-5" "00000" "XPNPEP3_000006" "g.41278055C>T" "" "{PMID:Otto 2011:21068128}" "" "c.463C/T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000856179" "0" "30" "22" "41282309" "41282309" "subst" "0.00139586" "02326" "DNAJB7_000006" "g.41282309A>G" "" "" "" "XPNPEP3(NM_022098.3):c.590-8A>G, XPNPEP3(NM_022098.4):c.590-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856180" "0" "50" "22" "41305124" "41305124" "subst" "2.84243E-5" "02326" "DNAJB7_000011" "g.41305124A>G" "" "" "" "XPNPEP3(NM_022098.4):c.856-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856181" "0" "10" "22" "41310234" "41310234" "subst" "0.00227828" "02326" "DNAJB7_000012" "g.41310234T>C" "" "" "" "XPNPEP3(NM_022098.4):c.970-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866864" "0" "30" "22" "41282308" "41282308" "subst" "0.00129057" "02326" "DNAJB7_000009" "g.41282308C>T" "" "" "" "XPNPEP3(NM_022098.4):c.590-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866865" "0" "30" "22" "41282488" "41282488" "subst" "0.000121962" "02326" "DNAJB7_000010" "g.41282488G>T" "" "" "" "XPNPEP3(NM_022098.4):c.761G>T (p.R254L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927183" "0" "30" "22" "41282532" "41282532" "subst" "5.33763E-5" "02326" "DNAJB7_000013" "g.41282532T>C" "" "" "" "XPNPEP3(NM_022098.4):c.792+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000970501" "0" "30" "22" "41303615" "41303615" "subst" "0.000783826" "02326" "DNAJB7_000014" "g.41303615A>G" "" "" "" "XPNPEP3(NM_022098.4):c.817A>G (p.S273G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984253" "0" "30" "22" "41256741" "41256741" "subst" "1.27685E-5" "01804" "DNAJB7_000015" "g.41256741A>G" "" "" "" "XPNPEP3(NM_001204827.2):c.124A>G (p.(Met42Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984254" "0" "50" "22" "41320373" "41320373" "subst" "0.000751409" "01804" "DNAJB7_000016" "g.41320373G>A" "" "" "" "XPNPEP3(NM_022098.4):c.1244G>A (p.(Arg415Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015953" "0" "50" "22" "41320397" "41320397" "del" "0" "02325" "DNAJB7_000017" "g.41320397del" "" "" "" "XPNPEP3(NM_022098.4):c.1268delG (p.G423Afs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022207" "0" "70" "22" "41320486" "41320486" "subst" "2.03087E-5" "04796" "DNAJB7_000008" "g.41320486G>A" "" "" "" "" "effect on RNA inclusion of intron sequences" "Germline/De novo (untested)" "" "" "0" "" "" "g.40924482G>A" "" "likely pathogenic" "" "0001043884" "0" "30" "22" "41305245" "41305245" "subst" "5.68505E-5" "01804" "DNAJB7_000018" "g.41305245T>C" "" "" "" "XPNPEP3(NM_022098.4):c.969+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 XPNPEP3 ## Count = 22 "{{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}}" "0000315515" "00022929" "10" "1055" "15" "1055" "15" "c.1055+15G>A" "r.(=)" "p.(=)" "" "0000455440" "00022929" "50" "793" "-428" "793" "-428" "c.793-428C>T" "r.(=)" "p.(=)" "" "0000572113" "00022929" "10" "64" "3463" "64" "3463" "c.64+3463A>G" "r.(=)" "p.(=)" "" "0000572114" "00022929" "30" "64" "4144" "64" "4144" "c.64+4144C>A" "r.(=)" "p.(=)" "" "0000572117" "00022929" "30" "590" "-8" "590" "-8" "c.590-8A>G" "r.(=)" "p.(=)" "" "0000650990" "00022929" "90" "1357" "0" "1357" "0" "c.1357G>T" "r.(?)" "p.(Gly453Cys)" "" "0000681901" "00022929" "30" "1477" "0" "1477" "0" "c.1477C>G" "r.(?)" "p.(Pro493Ala)" "" "0000728184" "00022929" "50" "64" "3433" "64" "3433" "c.64+3433G>T" "r.(=)" "p.(=)" "" "0000728185" "00022929" "70" "1357" "0" "1357" "0" "c.1357G>A" "r.(?)" "p.(Gly453Ser)" "" "0000792021" "00022929" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Trp)" "3" "0000856179" "00022929" "30" "590" "-8" "590" "-8" "c.590-8A>G" "r.(=)" "p.(=)" "" "0000856180" "00022929" "50" "856" "-2" "856" "-2" "c.856-2A>G" "r.spl?" "p.?" "" "0000856181" "00022929" "10" "970" "-9" "970" "-9" "c.970-9T>C" "r.(=)" "p.(=)" "" "0000866864" "00022929" "30" "590" "-9" "590" "-9" "c.590-9C>T" "r.(=)" "p.(=)" "" "0000866865" "00022929" "30" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Arg254Leu)" "" "0000927183" "00022929" "30" "792" "13" "792" "13" "c.792+13T>C" "r.(=)" "p.(=)" "" "0000970501" "00022929" "30" "817" "0" "817" "0" "c.817A>G" "r.(?)" "p.(Ser273Gly)" "" "0000984253" "00022929" "30" "64" "3492" "64" "3492" "c.64+3492A>G" "r.(=)" "p.(=)" "" "0000984254" "00022929" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "0001015953" "00022929" "50" "1268" "0" "1268" "0" "c.1268del" "r.(?)" "p.(Gly423Alafs*25)" "" "0001022207" "00022929" "70" "1357" "0" "1357" "0" "c.1357G>A" "r.1357_1358ins1357+1_1357+31" "p.Gly453_Iso454insfsTer17" "9" "0001043884" "00022929" "30" "969" "6" "969" "6" "c.969+6T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000220471" "0000455440" "0000294301" "0000650990" "0000379001" "0000792021" "0000462680" "0001022207"