### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FKBP6) # 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}}" "FKBP6" "FK506 binding protein 6, 36kDa" "7" "q11.23" "unknown" "NG_023242.2" "UD_132118841891" "" "https://www.LOVD.nl/FKBP6" "" "1" "3722" "8468" "604839" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/FKBP6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-14 11:36:50" "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}}" "00025747" "FKBP6" "transcript variant 1" "003" "NM_003602.4" "" "NP_003593.3" "" "" "" "-197" "1443" "984" "72742235" "72772646" "00006" "2022-10-14 11:38:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FKBP6" "00201" ## 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}}" "00418991" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Netherlands" "" "0" "" "" "" "RU02135" "00418992" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Syria" "" "0" "" "" "" "M1400" "00418993" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Brazil" "" "0" "" "" "" "M1813" "00418994" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Kyrgyzstan (Kyrgyz Republic)" "" "0" "" "" "" "M2546" "00418995" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "Germany" "" "0" "" "" "" "M2548" "00418996" "" "" "" "1" "" "00006" "{PMID:Wyrwoll 2022:36150389}" "" "M" "" "" "" "0" "" "" "" "Imp001" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00418991" "00201" "00418992" "00201" "00418993" "00201" "00418994" "00201" "00418995" "00201" "00418996" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201 ## Count = 6 "{{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}}" "0000310278" "00201" "00418991" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., extreme oligozoospermia, all sperm malformed; unsuccessful testicular sperm extraction" "" "" "" "" "" "" "" "" "male infertility" "0000310279" "00201" "00418992" "00006" "Familial, autosomal recessive" "43y" "see paper; ..., extreme oligozoospermia, morphology not determined; unsuccessful testicular sperm extraction" "" "" "" "" "" "" "" "" "male infertility" "0000310280" "00201" "00418993" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., azoospermia, testicular sperm extraction not attempted" "" "" "" "" "" "" "" "" "male infertility" "0000310281" "00201" "00418994" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., extreme oligozoospermia, most sperm malformed; unsuccessful testicular sperm extraction" "" "" "" "" "" "" "" "" "male infertility" "0000310282" "00201" "00418995" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., extreme oligozoospermia, all sperm malformed; unsuccessful testicular sperm extraction" "" "" "" "" "" "" "" "" "male infertility" "0000310283" "00201" "00418996" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., extreme oligozoospermia, all sperm malformed; unsuccessful fine needle aspiration" "" "" "" "" "" "" "" "" "male infertility" ## 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}}" "0000420289" "00418991" "1" "00006" "00006" "2022-10-14 12:15:29" "00006" "2022-10-14 12:17:27" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000420290" "00418992" "1" "00006" "00006" "2022-10-14 12:15:29" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000420291" "00418993" "1" "00006" "00006" "2022-10-14 12:15:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420292" "00418994" "1" "00006" "00006" "2022-10-14 12:15:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420293" "00418995" "1" "00006" "00006" "2022-10-14 12:15:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000420294" "00418996" "1" "00006" "00006" "2022-10-14 12:15:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 12 "{{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}}" "0000532533" "0" "30" "7" "72742627" "72742627" "subst" "0.00188992" "01804" "FKBP6_000001" "g.72742627G>A" "" "" "" "FKBP6(NM_001135211.1):c.92G>A (p.(Arg31Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73328624G>A" "" "likely benign" "" "0000611177" "0" "50" "7" "72744239" "72744239" "subst" "0" "01804" "FKBP6_000002" "g.72744239T>A" "" "" "" "FKBP6(NM_003602.3):c.352T>A (p.(Tyr118Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73330236T>A" "" "VUS" "" "0000880609" "3" "90" "7" "72745699" "72745720" "dup" "0" "00006" "FKBP6_000004" "g.72745699_72745720dup" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73331696_73331717dup" "" "pathogenic (recessive)" "" "0000880610" "3" "90" "7" "72754638" "72754638" "subst" "4.06319E-6" "00006" "FKBP6_000005" "g.72754638A>G" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73340636A>G" "" "pathogenic (recessive)" "" "0000880611" "3" "70" "7" "72754661" "72754661" "subst" "1.21862E-5" "00006" "FKBP6_000006" "g.72754661C>T" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73340659C>T" "" "likely pathogenic (recessive)" "" "0000880612" "21" "90" "7" "72755320" "72755320" "subst" "4.06124E-6" "00006" "FKBP6_000007" "g.72755320C>T" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73341321C>T" "" "pathogenic (recessive)" "" "0000880613" "3" "90" "7" "72745699" "72745720" "dup" "0" "00006" "FKBP6_000004" "g.72745699_72745720dup" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73331696_73331717dup" "" "pathogenic (recessive)" "" "0000880614" "3" "70" "7" "72745658" "72745658" "subst" "0" "00006" "FKBP6_000003" "g.72745658A>T" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.73331655A>T" "" "likely pathogenic (recessive)" "" "0000880615" "10" "70" "7" "72745699" "72745720" "dup" "0" "00006" "FKBP6_000004" "g.72745699_72745720dup" "" "{PMID:Wyrwoll 2022:36150389}" "" "" "" "Germline" "" "" "0" "" "" "g.73331696_73331717dup" "" "likely pathogenic (recessive)" "" "0000996633" "0" "30" "7" "72744255" "72744255" "subst" "9.7454E-5" "01804" "TRIM50_000001" "g.72744255G>C" "" "" "" "FKBP6(NM_003602.4):c.368G>C (p.(Cys123Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000996634" "0" "30" "7" "72755347" "72755347" "subst" "0.000398005" "01804" "FKBP6_000008" "g.72755347C>A" "" "" "" "FKBP6(NM_003602.4):c.859C>A (p.(His287Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036503" "0" "30" "7" "72743403" "72743403" "subst" "0.00233635" "01804" "TRIM50_000002" "g.72743403C>T" "" "" "" "FKBP6(NM_003602.5):c.216C>T (p.(Phe72=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 FKBP6 ## Count = 12 "{{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}}" "0000532533" "00025747" "30" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Arg36Gln)" "" "0000611177" "00025747" "50" "352" "0" "352" "0" "c.352T>A" "r.(?)" "p.(Tyr118Asn)" "" "0000880609" "00025747" "90" "508" "0" "529" "0" "c.508_529dup" "r.(?)" "p.(Phe177CysfsTer20)" "" "0000880610" "00025747" "90" "589" "-2" "589" "-2" "c.589-2A>G" "r.[588_589ins[589-55_589-3;gg],589_616del]" "p.[Ala197GlyfsTer31,Ala197HisfsTer18]" "" "0000880611" "00025747" "70" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Ter)" "" "0000880612" "00025747" "90" "832" "0" "832" "0" "c.832C>T" "r.(?)" "p.(Arg278Ter)" "" "0000880613" "00025747" "90" "508" "0" "529" "0" "c.508_529dup" "r.(?)" "p.(Phe177CysfsTer20)" "" "0000880614" "00025747" "70" "469" "-2" "469" "-2" "c.469-2A>T" "r.(469_588del)" "p.(Glu157GlyfsTer13)" "" "0000880615" "00025747" "70" "508" "0" "529" "0" "c.508_529dup" "r.(?)" "p.(Phe177CysfsTer20)" "" "0000996633" "00025747" "30" "368" "0" "368" "0" "c.368G>C" "r.(?)" "p.(Cys123Ser)" "" "0000996634" "00025747" "30" "859" "0" "859" "0" "c.859C>A" "r.(?)" "p.(His287Asn)" "" "0001036503" "00025747" "30" "216" "0" "216" "0" "c.216C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000420289" "0000880609" "0000420290" "0000880610" "0000420291" "0000880611" "0000420292" "0000880612" "0000420292" "0000880615" "0000420293" "0000880613" "0000420294" "0000880614"