### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXJ1) # 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}}" "FOXJ1" "forkhead box J1" "17" "q25.1" "unknown" "NG_013345.1" "UD_132118829467" "" "https://www.LOVD.nl/FOXJ1" "" "1" "3816" "2302" "602291" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-06 16:05:06" "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}}" "00008091" "FOXJ1" "forkhead box J1" "001" "NM_001454.3" "" "NP_001445.2" "" "" "" "-355" "2286" "1266" "74137380" "74132414" "" "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}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "06385" "CILD43" "Ciliary dyskinesia, primary, 43" "AD" "618699" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FOXJ1" "06385" ## 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}}" "00269790" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "FamOP-1743" "00269791" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "FamOP-1933" "00269792" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "FamOP-2950" "00269793" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamRBH" "00269794" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "FamUS-1" "00269795" "" "" "" "1" "" "00006" "{PMID:Wallmeier 2019:31630787}" "2-generation family, 1 affected sisters, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "FamUS-2" "00453795" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV982" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00269790" "00198" "00269791" "00198" "00269792" "00198" "00269793" "00198" "00269794" "00198" "00269795" "00198" "00453795" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 06385 ## Count = 7 "{{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}}" "0000207583" "00198" "00269790" "00006" "Isolated (sporadic)" "" "respiratory stress syndrome; bronchiecstasis; hydrocephalus internus; cerebral shunt; no ventricular septal defect; no situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000207584" "00198" "00269791" "00006" "Isolated (sporadic)" "" "respiratory stress syndrome; bronchiecstasis; hydrocephalus in; us; cerebral shunt; ventricular septal defect; no situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000207585" "00198" "00269792" "00006" "Isolated (sporadic)" "" "respiratory stress syndrome; bronchiecstasis; hydrocephalus internus; no cerebral shunt; no ventricular septal defect; situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000207586" "00198" "00269793" "00006" "Isolated (sporadic)" "" "no respiratory stress syndrome; bronchiecstasis; hydrocephalus internus; cerebral shunt; no ventricular septal defect; no situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000207587" "00198" "00269794" "00006" "Isolated (sporadic)" "" "respiratory stress syndrome; bronchiecstasis; hydrocephalus internus; cerebral shunt; no ventricular septal defect; situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000207588" "00198" "00269795" "00006" "Isolated (sporadic)" "" "bronchiecstasis; hydrocephalus internus; cerebral shunt; no ventricular septal defect; situs inversus" "" "" "" "" "" "" "" "" "" "" "" "0000342452" "00152" "00453795" "00006" "Unknown" "" "ventricular septal defect patch closure; coarctation, ventricular septal defect" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## 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}}" "0000270942" "00269790" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270943" "00269791" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270944" "00269792" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270945" "00269793" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270946" "00269794" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270947" "00269795" "1" "00006" "00006" "2019-12-06 16:48:21" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455407" "00453795" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000270942" "FOXJ1" "0000270943" "FOXJ1" "0000270944" "FOXJ1" "0000270945" "FOXJ1" "0000270946" "FOXJ1" "0000270947" "FOXJ1" ## 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 = 17 "{{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}}" "0000307160" "0" "50" "17" "74152290" "74152290" "subst" "0" "01943" "RNF157_000003" "g.74152290C>A" "" "" "" "RNF157(NM_052916.3):c.1525+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.76156209C>A" "" "VUS" "" "0000624762" "0" "90" "17" "74133799" "74133799" "subst" "0" "00006" "FOXJ1_000001" "g.74133799C>A" "" "{PMID:Wallmeier 2019:31630787}" "" "" "" "De novo" "" "" "0" "" "" "g.76137718C>A" "" "pathogenic (dominant)" "" "0000624763" "0" "90" "17" "74133874" "74133874" "subst" "0" "00006" "FOXJ1_000003" "g.74133874G>A" "" "{PMID:Wallmeier 2019:31630787}" "" "" "" "De novo" "" "" "0" "" "" "g.76137793G>A" "" "pathogenic (dominant)" "" "0000624764" "0" "90" "17" "74133829" "74133832" "dup" "0" "00006" "FOXJ1_000002" "g.74133829_74133832dup" "" "{PMID:Wallmeier 2019:31630787}" "" "" "" "De novo" "" "" "0" "" "" "g.76137748_76137751dup" "" "pathogenic (dominant)" "" "0000624765" "0" "90" "17" "74133736" "74133736" "del" "0" "00006" "FOXJ1_000004" "g.74133736del" "" "{PMID:Wallmeier 2019:31630787}" "" "967delG" "" "De novo" "" "" "0" "" "" "g.76137655del" "" "pathogenic (dominant)" "" "0000624766" "0" "90" "17" "74133874" "74133874" "subst" "0" "00006" "FOXJ1_000003" "g.74133874G>A" "" "{PMID:Wallmeier 2019:31630787}" "" "" "" "De novo" "" "" "0" "" "" "g.76137793G>A" "" "pathogenic (dominant)" "" "0000624767" "0" "90" "17" "74133762" "74133762" "del" "0" "00006" "FOXJ1_000005" "g.74133762del" "" "{PMID:Wallmeier 2019:31630787}" "" "939delC" "" "De novo" "" "" "0" "" "" "g.76137681del" "" "pathogenic (dominant)" "" "0000808264" "0" "90" "17" "74133995" "74133995" "dup" "0" "02325" "FOXJ1_000006" "g.74133995dup" "" "" "" "FOXJ1(NM_001454.4):c.709dupC (p.R237Pfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894288" "0" "30" "17" "74133654" "74133654" "subst" "5.02968E-5" "02325" "FOXJ1_000007" "g.74133654T>A" "" "" "" "FOXJ1(NM_001454.4):c.1046A>T (p.H349L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982810" "0" "30" "17" "74133736" "74133736" "subst" "2.95212E-5" "01804" "FOXJ1_000008" "g.74133736C>T" "" "" "" "FOXJ1(NM_001454.4):c.964G>A (p.(Gly322Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003688" "0" "50" "17" "74133583" "74133583" "subst" "0" "01804" "FOXJ1_000009" "g.74133583C>G" "" "" "" "FOXJ1(NM_001454.3):c.1117G>C (p.(Asp373His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003689" "0" "30" "17" "74133598" "74133598" "subst" "0" "01804" "FOXJ1_000010" "g.74133598C>T" "" "" "" "FOXJ1(NM_001454.3):c.1102G>A (p.(Asp368Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003691" "0" "30" "17" "74152395" "74152395" "subst" "3.66372E-5" "01804" "FOXJ1_000011" "g.74152395C>T" "" "" "" "RNF157(NM_052916.2):c.1421G>A (p.(Gly474Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003692" "0" "30" "17" "74155654" "74155654" "subst" "0.000164467" "01804" "FOXJ1_000012" "g.74155654A>T" "" "" "" "RNF157(NM_052916.2):c.1066T>A (p.(Ser356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007514" "0" "70" "17" "74133787" "74133787" "subst" "0" "00006" "FOXJ1_000013" "g.74133787G>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001454.4:c.913G>C" "" "Germline" "" "" "0" "" "" "g.76137706G>C" "" "VUS" "" "0001042192" "0" "50" "17" "74134062" "74134062" "subst" "8.76739E-6" "01804" "FOXJ1_000014" "g.74134062C>T" "" "" "" "FOXJ1(NM_001454.4):c.638G>A (p.(Arg213Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042193" "0" "50" "17" "74134134" "74134134" "subst" "0" "01804" "FOXJ1_000015" "g.74134134G>C" "" "" "" "FOXJ1(NM_001454.4):c.566C>G (p.(Pro189Arg))" "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 FOXJ1 ## Count = 17 "{{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}}" "0000307160" "00008091" "50" "-15265" "0" "-15265" "0" "c.-15265G>T" "r.(?)" "p.(=)" "" "0000624762" "00008091" "90" "901" "0" "901" "0" "c.901G>T" "r.(?)" "p.(Glu301*)" "" "0000624763" "00008091" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "" "0000624764" "00008091" "90" "868" "0" "871" "0" "c.868_871dup" "r.(?)" "p.(Thr291Lysfs*12)" "" "0000624765" "00008091" "90" "967" "0" "967" "0" "c.967del" "r.(?)" "p.(Glu323Serfs*10)" "" "0000624766" "00008091" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Gln276*)" "" "0000624767" "00008091" "90" "939" "0" "939" "0" "c.939del" "r.(?)" "p.(Ile314Serfs*19)" "" "0000808264" "00008091" "90" "709" "0" "709" "0" "c.709dup" "r.(?)" "p.(Arg237Profs*37)" "" "0000894288" "00008091" "30" "1046" "0" "1046" "0" "c.1046A>T" "r.(?)" "p.(His349Leu)" "" "0000982810" "00008091" "30" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Gly322Arg)" "" "0001003688" "00008091" "50" "1117" "0" "1117" "0" "c.1117G>C" "r.(?)" "p.(Asp373His)" "" "0001003689" "00008091" "30" "1102" "0" "1102" "0" "c.1102G>A" "r.(?)" "p.(Asp368Asn)" "" "0001003691" "00008091" "30" "-15370" "0" "-15370" "0" "c.-15370G>A" "r.(?)" "p.(=)" "" "0001003692" "00008091" "30" "-18629" "0" "-18629" "0" "c.-18629T>A" "r.(?)" "p.(=)" "" "0001007514" "00008091" "70" "913" "0" "913" "0" "c.913C>G" "r.(?)" "p.(Leu305Val)" "" "0001042192" "00008091" "50" "638" "0" "638" "0" "c.638G>A" "r.(?)" "p.(Arg213Gln)" "" "0001042193" "00008091" "50" "566" "0" "566" "0" "c.566C>G" "r.(?)" "p.(Pro189Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000270942" "0000624762" "0000270943" "0000624763" "0000270944" "0000624764" "0000270945" "0000624765" "0000270946" "0000624766" "0000270947" "0000624767" "0000455407" "0001007514"