### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PUS1) # 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}}" "PUS1" "pseudouridylate synthase 1" "12" "q24" "unknown" "NG_013039.1" "UD_132118752194" "" "https://www.LOVD.nl/PUS1" "" "1" "15508" "80324" "608109" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-30 09:15:28" "00000" "2025-07-08 13:22:38" ## 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}}" "00017194" "PUS1" "transcript variant 1" "003" "NM_025215.5" "" "NP_079491.2" "" "" "" "-455" "1559" "1284" "132413813" "132428406" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02302" "MLASA1" "Myopathy, lactic acidosis, and sideroblastic anemia 1" "AR" "600462" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PUS1" "02302" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00036629" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036630" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00210917" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA191" "00249424" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00290637" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296590" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "F" "yes" "Turkey" "" "0" "" "" "" "Pat23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00210917" "05484" "00290637" "00198" "00296590" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02302, 05484 ## Count = 3 "{{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}}" "0000159479" "05484" "00210917" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000188392" "00198" "00249424" "01164" "Unknown" "" "HP:0004828 (Refractory anemia with ringed sideroblasts); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000223996" "00198" "00296590" "00006" "Familial, autosomal recessive" "17y" "muscle affected; central nervous system affected; heart not affected; liver not affected; growth retardation, mild anaemia" "4y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" ## 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}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036699" "00036629" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036700" "00036630" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000211995" "00210917" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000250532" "00249424" "1" "01164" "01164" "2019-07-31 15:28:30" "" "" "SEQ-NG-S" "DNA" "" "" "0000291805" "00290637" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297700" "00296590" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000036699" "PUS1" "0000036700" "PUS1" "0000211995" "PUS1" ## 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 = 23 "{{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}}" "0000063824" "1" "10" "12" "132428475" "132428475" "subst" "0" "01164" "PUS1_000001" "g.132428475T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.131943930T>C" "" "benign" "" "0000063825" "1" "10" "12" "132414086" "132414086" "subst" "0" "01164" "PUS1_000002" "g.132414086C>T" "" "" "" "" "c.-376C>T (Isoform 2)= c.-182C>T (Isoform 1); frequency 5-50%" "Germline" "" "rs61942438" "0" "" "" "g.131929541C>T" "" "benign" "" "0000443632" "1" "90" "12" "132414269" "132414269" "subst" "0" "00006" "PUS1_000004" "g.132414269T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.131929724T>G" "" "pathogenic (recessive)" "" "0000443633" "2" "90" "12" "132426448" "132426448" "del" "0" "00006" "PUS1_000005" "g.132426448del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.131941903del" "" "pathogenic (recessive)" "" "0000547127" "0" "10" "12" "132426432" "132426432" "subst" "0.00121761" "01943" "PUS1_000008" "g.132426432C>T" "" "" "" "PUS1(NM_025215.5):c.1140C>T (p.T380=), PUS1(NM_025215.6):c.1140C>T (p.(Thr380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131941887C>T" "" "benign" "" "0000547128" "0" "30" "12" "132426506" "132426506" "subst" "0.00226036" "01943" "PUS1_000009" "g.132426506C>T" "" "" "" "PUS1(NM_025215.5):c.1214C>T (p.T405M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131941961C>T" "" "likely benign" "" "0000579830" "3" "90" "12" "132414475" "132414475" "dup" "0" "01164" "PUS1_000010" "g.132414475dup" "" "" "" "" "ACMG grading: PP4, PVS1, PP1, PM2; PM3_supporting\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000613957" "0" "30" "12" "132416813" "132416813" "subst" "0.0150329" "01804" "PUS1_000011" "g.132416813G>A" "" "" "" "PUS1(NM_001002019.2):c.313G>A (p.(Asp105Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131932268G>A" "" "likely benign" "" "0000648494" "1" "30" "12" "132416780" "132416780" "subst" "0.017998" "03575" "PUS1_000012" "g.132416780C>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs142954643}" "Germline" "" "rs142954643" "0" "" "" "g.131932235C>A" "" "likely benign" "" "0000660309" "3" "90" "12" "132416842" "132416842" "subst" "0" "00006" "PUS1_000013" "g.132416842C>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.131932297C>A" "" "pathogenic (recessive)" "" "0000691288" "0" "30" "12" "132425830" "132425830" "subst" "0.00124123" "02326" "PUS1_000016" "g.132425830C>T" "" "" "" "PUS1(NM_025215.6):c.545-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691289" "0" "10" "12" "132426489" "132426489" "subst" "0.00228568" "01804" "PUS1_000017" "g.132426489C>T" "" "" "" "PUS1(NM_001002019.2):c.1113C>T (p.(Phe371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723920" "0" "90" "12" "132426414" "132426414" "subst" "0" "02329" "PUS1_000003" "g.132426414C>G" "" "" "" "PUS1(NM_025215.6):c.1122C>G (p.Y374*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805611" "0" "30" "12" "132426276" "132426276" "subst" "7.72094E-5" "01943" "PUS1_000018" "g.132426276G>A" "" "" "" "PUS1(NM_025215.5):c.984G>A (p.A328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805612" "0" "30" "12" "132426300" "132426300" "subst" "0.000536878" "02326" "PUS1_000019" "g.132426300G>A" "" "" "" "PUS1(NM_025215.6):c.1008G>A (p.E336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862907" "0" "10" "12" "132426291" "132426291" "subst" "0.00302917" "02327" "PUS1_000007" "g.132426291G>C" "" "" "" "PUS1(NM_025215.6):c.999G>C (p.(Leu333=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913794" "0" "10" "12" "132426489" "132426489" "subst" "0.00228568" "02327" "PUS1_000017" "g.132426489C>T" "" "" "" "PUS1(NM_001002019.2):c.1113C>T (p.(Phe371=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980132" "0" "30" "12" "132426432" "132426432" "subst" "0.00121761" "01804" "PUS1_000008" "g.132426432C>T" "" "" "" "PUS1(NM_025215.5):c.1140C>T (p.T380=), PUS1(NM_025215.6):c.1140C>T (p.(Thr380=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039069" "0" "50" "12" "132414664" "132414664" "subst" "0" "01804" "PUS1_000020" "g.132414664G>A" "" "" "" "PUS1(NM_025215.6):c.287G>A (p.(Gly96Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039070" "0" "90" "12" "132426176" "132426176" "subst" "8.12156E-6" "01804" "PUS1_000021" "g.132426176G>A" "" "" "" "PUS1(NM_025215.6):c.884G>A (p.(Arg295Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001039071" "0" "30" "12" "132426291" "132426291" "subst" "0.00302917" "01804" "PUS1_000007" "g.132426291G>C" "" "" "" "PUS1(NM_025215.6):c.999G>C (p.(Leu333=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039072" "0" "70" "12" "132428107" "132428107" "del" "4.07299E-6" "01804" "PUS1_000022" "g.132428107del" "" "" "" "PUS1(NM_025215.6):c.1260del (p.(Ser420Argfs*126))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046360" "0" "50" "12" "132414341" "132414341" "subst" "0" "02325" "PUS1_000023" "g.132414341G>A" "" "" "" "PUS1(NM_025215.6):c.74G>A (p.C25Y)" "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 PUS1 ## Count = 23 "{{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}}" "0000063824" "00017194" "10" "1628" "0" "1628" "0" "c.*344T>C" "r.(=)" "p.(=)" "" "0000063825" "00017194" "10" "-182" "0" "-182" "0" "c.-182C>T" "r.(=)" "p.(=)" "" "0000443632" "00017194" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "" "0000443633" "00017194" "90" "1156" "0" "1156" "0" "c.1156del" "r.(?)" "p.(Ser386Profs*6)" "" "0000547127" "00017194" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Thr380=)" "" "0000547128" "00017194" "30" "1214" "0" "1214" "0" "c.1214C>T" "r.(?)" "p.(Thr405Met)" "" "0000579830" "00017194" "90" "107" "0" "122" "0" "c.107_122dup" "r.(?)" "p.(Cys42Alafs*77)" "" "0000613957" "00017194" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Asp133Asn)" "" "0000648494" "00017194" "30" "364" "0" "364" "0" "c.364C>A" "r.(=)" "p.(=)" "" "0000660309" "00017194" "90" "426" "0" "426" "0" "c.426C>A" "r.(?)" "p.(Cys142*)" "" "0000691288" "00017194" "30" "545" "-7" "545" "-7" "c.545-7C>T" "r.(=)" "p.(=)" "" "0000691289" "00017194" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Phe399=)" "" "0000723920" "00017194" "90" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(Tyr374Ter)" "" "0000805611" "00017194" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Ala328=)" "" "0000805612" "00017194" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Glu336=)" "" "0000862907" "00017194" "10" "999" "0" "999" "0" "c.999G>C" "r.(?)" "p.(Leu333=)" "" "0000913794" "00017194" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(Phe399=)" "" "0000980132" "00017194" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Thr380=)" "" "0001039069" "00017194" "50" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Gly96Asp)" "" "0001039070" "00017194" "90" "884" "0" "884" "0" "c.884G>A" "r.(?)" "p.(Arg295Gln)" "" "0001039071" "00017194" "30" "999" "0" "999" "0" "c.999G>C" "r.(?)" "p.(Leu333=)" "" "0001039072" "00017194" "70" "1260" "0" "1260" "0" "c.1260del" "r.(?)" "p.(Ser420Argfs*?)" "" "0001046360" "00017194" "50" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Cys25Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000036699" "0000063824" "0000036700" "0000063825" "0000211995" "0000443632" "0000211995" "0000443633" "0000250532" "0000579830" "0000291805" "0000648494" "0000297700" "0000660309"