### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PUM1) # 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}}" "PUM1" "pumilio homolog 1 (Drosophila)" "1" "p35.2" "unknown" "NC_000001.10" "UD_132319044104" "" "https://www.LOVD.nl/PUM1" "" "1" "14957" "9698" "607204" "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/PUM1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-04 11:20:40" "00000" "2026-01-19 14:23:03" ## 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}}" "00017189" "PUM1" "transcript variant 1" "002" "NM_001020658.1" "" "NP_001018494.1" "" "" "" "-113" "5272" "3567" "31538564" "31404353" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06030" "SCA47" "Spinocerebellar ataxia 47" "AD" "617931" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PUM1" "06030" ## 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}}" "00111420" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "S_012" "00433150" "" "" "" "1" "" "01164" "" "" "F" "?" "? (unknown)" "" "0" "" "" "" "251598" "00444522" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat24" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00111420" "00139" "00433150" "06030" "00444522" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 06030 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000087506" "00139" "00111420" "00729" "Isolated (sporadic)" "" "Developmental delay, normal motor milestones, speech delay, anomalies of palmar creases; intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "0000323676" "06030" "00433150" "01164" "Unknown" "27y" "Neurodevelopmental abnormality, Intellectual disability, Bilateral tonic-clonic seizure, Seizure" "" "" "" "" "" "" "" "" "" "0000333775" "05611" "00444522" "00006" "Isolated (sporadic)" "02y-10y" "Wide mouth, Unilateral renal hypoplasia, Skin plaque, Protruding tongue, Periventricular leukomalacia, Oligohydramnios, Macrocephaly, Intellectual disability, severe, Gastroesophageal reflux, Failure to thrive, Esodeviation, Chronic constipation" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## 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}}" "0000111884" "00111420" "1" "00729" "00729" "2017-08-03 10:40:03" "" "" "SEQ-NG" "DNA" "" "" "0000434592" "00433150" "1" "01164" "01164" "2023-03-01 11:47:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000446090" "00444522" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "OM;SEQ-NG;SEQ-NG-RNA" "DNA;RNA" "" "WES, WGS trio, RNA-seq, optical mapping" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000111884" "PUM1" "0000434592" "PUM1" ## 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 = 31 "{{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}}" "0000179041" "0" "50" "1" "31465235" "31465236" "dup" "0" "00729" "PUM1_000001" "g.31465235_31465236dup" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.30992388_30992389dup" "" "VUS" "" "0000306639" "0" "50" "1" "31406186" "31406186" "subst" "0" "01943" "PUM1_000002" "g.31406186G>A" "" "" "" "PUM1(NM_001020658.1):c.3439C>T (p.R1147W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30933339G>A" "" "VUS" "" "0000320711" "0" "50" "1" "31414837" "31414837" "subst" "0.000763719" "01804" "PUM1_000003" "g.31414837T>A" "" "" "" "PUM1(NM_001020658.1):c.3120+8A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30941990T>A" "" "VUS" "" "0000320712" "0" "50" "1" "31414838" "31414838" "subst" "0.000763812" "01804" "PUM1_000004" "g.31414838C>A" "" "" "" "PUM1(NM_001020658.1):c.3120+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30941991C>A" "" "VUS" "" "0000320713" "0" "50" "1" "31447545" "31447545" "subst" "0.000189832" "01804" "PUM1_000005" "g.31447545A>T" "" "" "" "PUM1(NM_001020658.1):c.1459T>A (p.(Ser487Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30974698A>T" "" "VUS" "" "0000507058" "0" "30" "1" "31425154" "31425154" "subst" "0.000686635" "01943" "PUM1_000006" "g.31425154T>C" "" "" "" "PUM1(NM_001020658.1):c.2648A>G (p.N883S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30952307T>C" "" "likely benign" "" "0000605669" "0" "30" "1" "31422976" "31422976" "subst" "0.00175638" "01943" "PUM1_000007" "g.31422976T>C" "" "" "" "PUM1(NM_001020658.1):c.2854A>G (p.I952V), PUM1(NM_001020658.2):c.2854A>G (p.I952V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30950129T>C" "" "likely benign" "" "0000620607" "0" "30" "1" "31447657" "31447657" "subst" "6.42883E-5" "01943" "PUM1_000008" "g.31447657T>C" "" "" "" "PUM1(NM_001020658.1):c.1355-8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30974810T>C" "" "likely benign" "" "0000799313" "0" "70" "1" "31409550" "31409550" "subst" "0" "02327" "PUM1_000009" "g.31409550G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799314" "0" "30" "1" "31409634" "31409634" "subst" "0.00226419" "01943" "PUM1_000010" "g.31409634A>G" "" "" "" "PUM1(NM_001020658.1):c.3291T>C (p.A1097=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799315" "0" "30" "1" "31440090" "31440090" "subst" "6.09796E-5" "01943" "PUM1_000011" "g.31440090C>T" "" "" "" "PUM1(NM_001020658.1):c.1713G>A (p.A571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857446" "0" "90" "1" "31406186" "31406186" "subst" "0" "02327" "PUM1_000002" "g.31406186G>A" "" "" "" "PUM1(NM_001020658.1):c.3439C>T (p.R1147W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857447" "0" "50" "1" "31532217" "31532217" "subst" "0" "01804" "PUM1_000012" "g.31532217G>A" "" "" "" "PUM1(NM_001020658.1):c.197C>T (p.(Pro66Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883389" "0" "70" "1" "31414077" "31414078" "dup" "0" "02327" "PUM1_000013" "g.31414077_31414078dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883390" "0" "50" "1" "31418242" "31418242" "subst" "0" "02327" "PUM1_000014" "g.31418242C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883391" "0" "30" "1" "31422976" "31422976" "subst" "0.00175638" "02325" "PUM1_000007" "g.31422976T>C" "" "" "" "PUM1(NM_001020658.1):c.2854A>G (p.I952V), PUM1(NM_001020658.2):c.2854A>G (p.I952V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883392" "0" "50" "1" "31441312" "31441312" "subst" "4.51316E-5" "02329" "PUM1_000015" "g.31441312G>C" "" "" "" "PUM1(NM_001020658.2):c.1534C>G (p.P512A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920389" "0" "70" "1" "31452954" "31452954" "del" "0" "01164" "PUM1_000016" "g.31452954del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.30980107del" "" "likely pathogenic (dominant)" "ACMG" "0000933300" "0" "50" "1" "31426711" "31426711" "subst" "0" "03779" "PUM1_000017" "g.31426711G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000947215" "0" "50" "1" "31426696" "31426696" "subst" "8.12922E-6" "02325" "PUM1_000018" "g.31426696T>C" "" "" "" "PUM1(NM_001020658.2):c.2456A>G (p.Y819C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954341" "0" "70" "1" "31409001" "31422000" "dup" "0" "00006" "PUM1_000019" "g.31409001_31422000dup" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PS2, PM1, PM2; not detected by WES" "De novo" "" "" "0" "" "" "g.30936154_30949153dup" "" "likely pathogenic" "ACMG" "0000961011" "0" "50" "1" "31426700" "31426700" "subst" "0" "02325" "PUM1_000021" "g.31426700G>A" "" "" "" "PUM1(NM_001020658.2):c.2452C>T (p.R818*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991143" "0" "30" "1" "31440124" "31440124" "subst" "0" "01804" "PUM1_000022" "g.31440124T>C" "" "" "" "PUM1(NM_001020658.1):c.1679A>G (p.(Tyr560Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991144" "0" "50" "1" "31454225" "31454225" "subst" "8.30399E-6" "01804" "PUM1_000023" "g.31454225C>T" "" "" "" "PUM1(NM_001020658.1):c.1186G>A (p.(Val396Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024159" "0" "50" "1" "31409639" "31409639" "subst" "0" "02329" "PUM1_000024" "g.31409639G>A" "" "" "" "PUM1(NM_001020658.2):c.3286C>T (p.R1096C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024160" "0" "30" "1" "31439130" "31439130" "subst" "7.73937E-5" "02325" "PUM1_000025" "g.31439130G>C" "" "" "" "PUM1(NM_001020658.2):c.1790-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031970" "0" "50" "1" "31409587" "31409587" "dup" "0" "01804" "PUM1_000026" "g.31409587dup" "" "" "" "PUM1(NM_001020658.2):c.3339dup (p.(Tyr1115Ilefs*18))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031971" "0" "30" "1" "31423117" "31423117" "subst" "7.82273E-5" "01804" "PUM1_000027" "g.31423117A>T" "" "" "" "PUM1(NM_001020658.2):c.2722-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045673" "0" "50" "1" "31441332" "31441332" "subst" "0" "02325" "PUM1_000028" "g.31441332C>G" "" "" "" "PUM1(NM_001020658.2):c.1514G>C (p.R505P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050037" "0" "30" "1" "31467918" "31467920" "del" "0" "01804" "PUM1_000029" "g.31467918_31467920del" "" "" "" "PUM1(NM_001020658.2):c.869_871del (p.(Ala290del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062848" "0" "50" "1" "31413996" "31413996" "subst" "4.07067E-6" "03779" "chr1_018332" "g.31413996A>G" "" "" "" "" "" "Unknown" "" "rs755859955" "0" "" "" "" "" "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 PUM1 ## Count = 31 "{{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}}" "0000179041" "00017189" "50" "1158" "1" "1158" "2" "c.1158+1_1158+2dup" "r.spl?" "p.?" "" "0000306639" "00017189" "50" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Arg1147Trp)" "" "0000320711" "00017189" "50" "3120" "8" "3120" "8" "c.3120+8A>T" "r.(=)" "p.(=)" "" "0000320712" "00017189" "50" "3120" "7" "3120" "7" "c.3120+7G>T" "r.(=)" "p.(=)" "" "0000320713" "00017189" "50" "1459" "0" "1459" "0" "c.1459T>A" "r.(?)" "p.(Ser487Thr)" "" "0000507058" "00017189" "30" "2648" "0" "2648" "0" "c.2648A>G" "r.(?)" "p.(Asn883Ser)" "" "0000605669" "00017189" "30" "2854" "0" "2854" "0" "c.2854A>G" "r.(?)" "p.(Ile952Val)" "" "0000620607" "00017189" "30" "1355" "-8" "1355" "-8" "c.1355-8A>G" "r.(=)" "p.(=)" "" "0000799313" "00017189" "70" "3375" "0" "3375" "0" "c.3375C>G" "r.(?)" "p.(Tyr1125*)" "" "0000799314" "00017189" "30" "3291" "0" "3291" "0" "c.3291T>C" "r.(?)" "p.(Ala1097=)" "" "0000799315" "00017189" "30" "1713" "0" "1713" "0" "c.1713G>A" "r.(?)" "p.(Ala571=)" "" "0000857446" "00017189" "90" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Arg1147Trp)" "" "0000857447" "00017189" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Pro66Leu)" "" "0000883389" "00017189" "70" "3162" "0" "3163" "0" "c.3162_3163dup" "r.(?)" "p.(Gly1055Alafs*11)" "" "0000883390" "00017189" "50" "2945" "0" "2945" "0" "c.2945G>A" "r.(?)" "p.(Cys982Tyr)" "" "0000883391" "00017189" "30" "2854" "0" "2854" "0" "c.2854A>G" "r.(?)" "p.(Ile952Val)" "" "0000883392" "00017189" "50" "1534" "0" "1534" "0" "c.1534C>G" "r.(?)" "p.(Pro512Ala)" "" "0000920389" "00017189" "70" "1311" "0" "1311" "0" "c.1311del" "r.(?)" "p.(Thr438Argfs*14)" "" "0000933300" "00017189" "50" "2441" "0" "2441" "0" "c.2441C>T" "r.(?)" "p.(Ser814Phe)" "" "0000947215" "00017189" "50" "2456" "0" "2456" "0" "c.2456A>G" "r.(?)" "p.(Tyr819Cys)" "" "0000954341" "00017189" "70" "2856" "974" "3435" "489" "c.2856+974_3435+489dup" "r.2857_3435dup" "p.?" "" "0000961011" "00017189" "50" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818*)" "" "0000991143" "00017189" "30" "1679" "0" "1679" "0" "c.1679A>G" "r.(?)" "p.(Asp560Gly)" "" "0000991144" "00017189" "50" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Val396Ile)" "" "0001024159" "00017189" "50" "3286" "0" "3286" "0" "c.3286C>T" "r.(?)" "p.(Arg1096Cys)" "" "0001024160" "00017189" "30" "1790" "-5" "1790" "-5" "c.1790-5C>G" "r.spl?" "p.?" "" "0001031970" "00017189" "50" "3339" "0" "3339" "0" "c.3339dup" "r.(?)" "p.(Tyr1115Ilefs*18)" "" "0001031971" "00017189" "30" "2722" "-9" "2722" "-9" "c.2722-9T>A" "r.(=)" "p.(=)" "" "0001045673" "00017189" "50" "1514" "0" "1514" "0" "c.1514G>C" "r.(?)" "p.(Arg505Pro)" "" "0001050037" "00017189" "30" "869" "0" "871" "0" "c.869_871del" "r.(?)" "p.(Ala290del)" "" "0001062848" "00017189" "50" "3242" "2" "3242" "2" "c.3242+2T>C" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000111884" "0000179041" "0000434592" "0000920389" "0000446090" "0000954341"