### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SETDB1) # 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}}" "SETDB1" "SET domain, bifurcated 1" "1" "q21" "unknown" "NC_000001.10" "UD_132319161477" "" "https://www.LOVD.nl/SETDB1" "" "1" "10761" "9869" "604396" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SETDB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-19 17:12:47" "00006" "2020-09-30 10:22:15" ## 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}}" "00018755" "SETDB1" "transcript variant 1" "001" "NM_001145415.1" "" "NP_001138887.1" "" "" "" "-190" "4256" "3876" "150898815" "150937220" "" "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" "05238" "PDB" "Paget disease of bone (PDB)" "" "" "" "" "" "00006" "2017-03-18 19:40:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00065168" "" "" "" "14" "" "01604" "{PMID:Divisato 2016:26849110}, {DOI:Divisato 2016:10.1016/j.ajhg.2015.12.016}" "5-generation family, 14-affecteds (9F, 5M)" "M" "no" "Italy" ">35y" "0" "" "" "Italian" "26849110-Fam1PatV4" "00312015" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312016" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312017" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312018" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312019" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312020" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00065168" "05238" "00312015" "00198" "00312016" "00198" "00312017" "00198" "00312018" "00198" "00312019" "00198" "00312020" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05238 ## Count = 1 "{{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}}" "0000079421" "05238" "00065168" "01604" "Familial, autosomal dominant" "35y" "Giant Cell Tumor (HP:0011847), coronary heart disease (HP:0004929)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065321" "00065168" "1" "01604" "01604" "2016-05-20 14:00:14" "" "" "IHC;PCRq;SEQ;SEQ-NG-I;SEQ-NG-R;Western" "DNA" "" "" "0000313187" "00312015" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313188" "00312016" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313189" "00312017" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313190" "00312018" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313191" "00312019" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313192" "00312020" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000065321" "ZNF687" "0000313187" "SETDB1" "0000313188" "SETDB1" "0000313189" "SETDB1" "0000313190" "SETDB1" "0000313191" "SETDB1" "0000313192" "SETDB1" ## 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 = 8 "{{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}}" "0000164222" "21" "30" "1" "150933514" "150933514" "subst" "0.000527979" "00006" "SETDB1_000001" "g.150933514A>T" "" "{PMID:Divisato 2016:26849110}, {DOI:Divisato 2016:10.1016/j.ajhg.2015.12.016}" "" "" "ancestral haplotype" "Germline" "" "rs138864506" "0" "" "" "g.150961038A>T" "" "likely benign" "" "0000675467" "0" "30" "1" "150902440" "150902440" "subst" "0.00574515" "01804" "SETDB1_000002" "g.150902440T>C" "" "" "" "SETDB1(NM_001145415.1):c.261-3T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694921" "0" "50" "1" "150902444" "150902444" "subst" "0" "00006" "SETDB1_000003" "g.150902444G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in PCYT1A, SH3PXD2B" "De novo" "" "" "0" "" "" "g.150929968G>A" "" "VUS" "ACMG" "0000694922" "11" "50" "1" "150917633" "150917633" "subst" "5.8877E-5" "00006" "SETDB1_000004" "g.150917633A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in GNAS" "Germline" "" "" "0" "" "" "g.150945157A>G" "" "VUS" "ACMG" "0000694923" "21" "50" "1" "150923461" "150923461" "subst" "0" "00006" "SETDB1_000005" "g.150923461C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in TGIF1" "Germline" "" "" "0" "" "" "g.150950985C>A" "" "VUS" "ACMG" "0000694924" "0" "70" "1" "150931746" "150931746" "subst" "0" "00006" "SETDB1_000006" "g.150931746T>G" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.150959270T>G" "" "likely pathogenic" "ACMG" "0000694925" "11" "50" "1" "150935127" "150935127" "subst" "0.000296507" "00006" "SETDB1_000007" "g.150935127C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in FHL1" "Germline" "" "" "0" "" "" "g.150962651C>T" "" "VUS" "ACMG" "0000694926" "11" "50" "1" "150936237" "150936237" "subst" "8.14299E-6" "00006" "SETDB1_000008" "g.150936237C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in COL6A1" "Germline" "" "" "0" "" "" "g.150963761C>T" "" "VUS" "ACMG" ## 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 SETDB1 ## Count = 8 "{{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}}" "0000164222" "00018755" "30" "2976" "0" "2976" "0" "c.2976A>T" "r.(?)" "p.(Glu992Asp)" "16" "0000675467" "00018755" "30" "261" "-3" "261" "-3" "c.261-3T>C" "r.spl?" "p.?" "" "0000694921" "00018755" "50" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Ala88Thr)" "" "0000694922" "00018755" "50" "1140" "49" "1140" "49" "c.1140+49A>G" "r.spl?" "p.?" "" "0000694923" "00018755" "50" "2108" "0" "2108" "0" "c.2108C>A" "r.(?)" "p.(Pro703His)" "" "0000694924" "00018755" "70" "2423" "0" "2423" "0" "c.2423T>G" "r.(?)" "p.(Phe808Cys)" "" "0000694925" "00018755" "50" "3223" "0" "3223" "0" "c.3223C>T" "r.(?)" "p.(Arg1075Cys)" "" "0000694926" "00018755" "50" "3669" "20" "3669" "20" "c.3669+20C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000065321" "0000164222" "0000313187" "0000694921" "0000313188" "0000694922" "0000313189" "0000694923" "0000313190" "0000694924" "0000313191" "0000694925" "0000313192" "0000694926"