### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DBF4B) # 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}}" "DBF4B" "DBF4 homolog B (S. cerevisiae)" "17" "q21.31" "unknown" "NC_000017.10" "UD_132378620019" "" "https://www.LOVD.nl/DBF4B" "" "1" "17883" "80174" "611661" "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/DBF4B_NM_145663.2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-05-19 17:07:04" "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}}" "00024262" "DBF4B" "transcript variant 1" "001" "NM_145663.2" "" "NP_663696.1" "" "" "" "-213" "2864" "1848" "42785976" "42829637" "00006" "2017-05-19 17:02:21" "" "" ## 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}}" "00124" "MFDGA;MFDM" "dysostosis, mandibulofacial, Guion-Almeida type" "AD" "610536" "" "" "" "00001" "2013-05-02 11:49:16" "00006" "2026-03-17 12:12:35" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00001636" "" "" "" "1" "" "00006" "{PMID:Lines 2012:22305528}" "" "F" "no" "" "" "0" "" "" "" "" "00104698" "" "" "" "2" "" "00006" "{PMID:Smith 2012:22608501}, {DOI:Smith 2012:10.1016/j.ajhg.2012.04.021}" "3-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "" "Australia" "" "0" "" "" "Italy (Lombardy)" "22608501-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00001636" "00124" "00104698" "05258" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00124, 01157, 05258 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000000803" "00124" "00001636" "00076" "Isolated (sporadic)" "" "IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures" "" "40w; weight 2610 (-2)" "87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)" "" "" "" "" "" "" "MFDGA" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "3w" "" "" "" "" "" "" "" "0000082613" "05258" "00104698" "00006" "Familial, autosomal recessive" "" "see paper; ..., NCL, retinopathy" "" "" "" "" "" "" "" "" "" "" "NCL" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000001436" "00001636" "1" "00006" "00006" "2013-07-28 14:59:43" "" "" "arrayCNV" "DNA" "" "" "0000105170" "00104698" "1" "00006" "00006" "2017-05-19 16:46:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000105170" "GRN" ## 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 = 6 "{{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}}" "0000005713" "0" "50" "17" "42824648" "42824648" "subst" "0" "00037" "DBF4B_000001" "g.42824648T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.44747280T>C" "" "VUS" "" "0000019225" "0" "55" "17" "42792021" "43147305" "del" "0" "00006" "DBF4B_000002" "g.42792021_43147305del" "" "" "" "" "array 42792021–43147305x1" "Unknown" "" "" "0" "" "" "g.44714653_45069937del" "" "VUS" "" "0000170444" "3" "50" "17" "42828484" "42828484" "subst" "0.00274946" "00006" "DBF4B_000003" "g.42828484T>A" "rs117190451" "{PMID:Smith 2012:22608501}, {DOI:Smith 2012:10.1016/j.ajhg.2012.04.021}" "" "1711T>A (Ser571Thr)" "" "Germline" "" "" "0" "" "" "g.44751116T>A" "" "VUS" "" "0000325437" "0" "50" "17" "42824480" "42824480" "del" "0" "01804" "DBF4B_000004" "g.42824480del" "" "" "" "DBF4B(NM_025104.3):c.860del (p.(Arg287HisfsTer101))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44747112del" "" "VUS" "" "0000325438" "0" "50" "17" "42824485" "42824486" "del" "0" "01804" "DBF4B_000005" "g.42824485_42824486del" "" "" "" "DBF4B(NM_025104.3):c.865_866del (p.(Ala289CysfsTer74))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44747117_44747118del" "" "VUS" "" "0000982548" "0" "50" "17" "42818791" "42818791" "subst" "0.000269014" "01804" "DBF4B_000006" "g.42818791G>A" "" "" "" "DBF4B(NM_145663.3):c.801G>A (p.(Pro267=))" "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 DBF4B ## Count = 6 "{{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}}" "0000005713" "00024262" "00" "939" "89" "939" "89" "c.939+89T>C" "r.(=)" "p.(=)" "" "0000019225" "00024262" "00" "82" "5287" "320532" "0" "c.82+5287_*318684del" "r.?" "p.?" "" "0000170444" "00024262" "50" "1711" "0" "1711" "0" "c.1711T>A" "r.(?)" "p.(Ser571Thr)" "14" "0000325437" "00024262" "50" "860" "0" "860" "0" "c.860del" "r.(?)" "p.(Arg287HisfsTer101)" "" "0000325438" "00024262" "50" "865" "0" "866" "0" "c.865_866del" "r.(?)" "p.(Ala289CysfsTer74)" "" "0000982548" "00024262" "50" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005713" "0000001436" "0000019225" "0000105170" "0000170444"