### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FBXO43) # 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}}" "FBXO43" "F-box protein 43" "8" "q22.3" "unknown" "NC_000008.10" "UD_136087014075" "" "" "" "1" "28521" "286151" "609110" "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" "2022-04-13 11:41:23" "00006" "2025-04-10 10:27:00" ## 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}}" "00007818" "FBXO43" "transcript variant 2" "001" "NM_001029860.3" "" "NP_001025031.2" "" "" "" "-736" "2569" "2127" "101158099" "101145588" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" "06916" "SPGF64" "spermatogenic failure, type 64" "AR" "619696" "" "" "" "00006" "2022-04-13 11:39:43" "" "" "06917" "OZEMA12;OOMD" "ocyte/zygote/embryo maturation arrest, type 12" "AR" "" "" "" "" "00006" "2022-04-13 11:40:48" "00006" "2024-11-08 11:48:51" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "FBXO43" "05450" "FBXO43" "05562" "FBXO43" "06916" "FBXO43" "06917" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00464696" "" "" "" "1" "" "00764" "" "His brother (ID:00464697) is also affected with NOA and harbors the same homozygous variant." "M" "yes" "Egypt" "" "" "" "" "" "2266_Case6" "00464697" "" "" "" "1" "" "00764" "" "His brother (ID:00464696) is also affected with NOA and harbors the same homozygous variant." "M" "yes" "Egypt" "" "" "" "" "" "2267_Case6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00464696" "05895" "00464697" "05895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05450, 05562, 05895, 06916, 06917 ## Count = 2 "{{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}}" "0000350681" "05895" "00464696" "00764" "Familial, autosomal recessive" "" "Infertility (HP:0000789), Non-obstructive azoospermia (HP:0011961)" "" "" "" "" "" "" "" "Spermatogenic failure 64 (MIM: 619696)" "" "0000350682" "05895" "00464697" "00764" "Familial, autosomal recessive" "" "Male infertility (HP:0003251), Non-obstructive azoospermia (HP:0011961)" "" "" "" "" "" "" "" "Spermatogenic failure 64 (MIM: 619696)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000466343" "00464696" "1" "00764" "00764" "2025-04-09 21:10:31" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" "0000466344" "00464697" "1" "00764" "00764" "2025-04-09 21:42:21" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WES (whole exome sequencing)" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000466343" "FBXO43" "0000466344" "FBXO43" ## 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 = 2 "{{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}}" "0001030302" "3" "70" "8" "101146281" "101146281" "subst" "0" "00764" "FBXO43_000001" "g.101146281G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100134053G>T" "" "likely pathogenic" "ACMG" "0001030303" "3" "70" "8" "101146281" "101146281" "subst" "0" "00764" "FBXO43_000001" "g.101146281G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.100134053G>T" "" "likely pathogenic" "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 FBXO43 ## Count = 2 "{{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}}" "0001030302" "00007818" "70" "1879" "-3" "1879" "-3" "c.1879-3C>A" "r.spl?" "p.?" "" "0001030303" "00007818" "70" "1879" "-3" "1879" "-3" "c.1879-3C>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000466343" "0001030302" "0000466344" "0001030303"