### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NOBOX) # 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}}" "NOBOX" "NOBOX oogenesis homeobox" "7" "q35" "unknown" "NG_028979.1" "UD_132118417926" "" "https://www.LOVD.nl/NOBOX" "" "1" "22448" "135935" "610934" "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/NOBOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-10 13:00:42" "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}}" "00014662" "NOBOX" "NOBOX oogenesis homeobox" "001" "NM_001080413.3" "" "NP_001073882.3" "" "" "" "1" "2076" "2076" "144107320" "144094333" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03040" "POF5" "ovarian failure, premature, type 5 (POF5)" "AD" "611548" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-01 17:15:41" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NOBOX" "03040" "NOBOX" "04187" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00101241" "" "" "" "1" "" "01666" "{PMID:Li 2017:27836978}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "" "00294348" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324127" "" "" "" "4" "" "03948" "" "" "F" "no" "Belgium" "" "" "" "" "white" "" "00324129" "" "" "" "4" "" "03948" "" "" "F" "no" "Belgium" "" "" "" "" "white" "" "00402737" "" "" "" "1" "" "03948" "" "" "F" "no" "Belgium" "" "0" "" "" "Italy" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00101241" "04187" "00294348" "00198" "00324127" "04187" "00324129" "04187" "00402737" "03040" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03040, 04187 ## Count = 4 "{{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}}" "0000079483" "04187" "00101241" "01666" "Unknown" "" ". The serum FSH level of the patient who carried DelG\r\nmutation was 51.07 IU/l; LH = 27.69 IU/l; E2 (estradiol) = 82.64 pmol/l;\r\ntestosterone (T) = 1.94 nmol/l; prolactin = 15.85 ng/ml." "" "" "" "" "" "" "" "" "" "" "" "0000242708" "04187" "00324127" "03948" "Familial, autosomal recessive" "32y" "primary amenorrhea and delayed puberty" "" "17y" "17y" "" "" "" "" "" "premature ovarian insufficiency" "hypergonadotropic hypogonadism" "" "0000242711" "04187" "00324129" "03948" "Familial, autosomal recessive" "32y" "primary amenorrhea and delayed puberty" "" "17y" "17y" "" "" "" "" "" "premature ovarian insufficiency" "hypergonadotropic hypogonadism" "" "0000295555" "03040" "00402737" "03948" "Unknown" "" "premature ovarian insufficiency; 20y-hypergonadotrophic hypogonadism, secondary amenorrhea" "" "" "" "" "" "" "" "" "POF5" "premature ovarian failure" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101685" "00101241" "1" "01666" "01666" "2017-03-24 05:24:34" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000295516" "00294348" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325318" "00324127" "1" "03948" "03948" "2020-12-01 15:04:13" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000325319" "00324129" "1" "03948" "03948" "2020-12-01 15:41:25" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000403978" "00402737" "1" "03948" "03948" "2022-02-09 13:44:01" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000101685" "NOBOX" "0000325318" "NOBOX" "0000325319" "NOBOX" "0000403978" "NOBOX" ## 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 = 20 "{{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}}" "0000164358" "3" "90" "7" "144098161" "144098161" "del" "0" "01666" "NOBOX_000001" "g.144098161del" "" "{PMID:Li 2017:27836978}" "" "NM_001080413.2:c.567delG" "" "Germline" "?" "" "0" "" "" "g.144401068del" "" "pathogenic" "" "0000164567" "0" "90" "7" "144098161" "144098161" "del" "0" "00006" "NOBOX_000001" "g.144098161del" "" "{PMID:Li 2017:27836978}" "" "" "cDNA expression cloning in 293FT cells showed normal protein expression (truncated), reduced (0.2) GDF9 promoter activation and reduced gene expression activation of CPSF4L, MYOT,\r\nRFPL4A, UNC13C, GDF9, NLRP14 and RSPO2" "In vitro (cloned)" "-" "" "0" "" "" "g.144401068del" "" "NA" "" "0000248767" "0" "10" "7" "144095600" "144095600" "subst" "0.633938" "02325" "NOBOX_000002" "g.144095600A>G" "" "" "" "NOBOX(NM_001080413.3):c.1549T>C (p.F517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398507A>G" "" "benign" "" "0000249109" "0" "10" "7" "144096839" "144096839" "subst" "0.633144" "02325" "NOBOX_000003" "g.144096839A>G" "" "" "" "NOBOX(NM_001080413.3):c.1154+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399746A>G" "" "benign" "" "0000296512" "0" "10" "7" "144098992" "144098992" "subst" "0.632086" "02325" "NOBOX_000005" "g.144098992G>A" "" "" "" "NOBOX(NM_001080413.3):c.262C>T (p.L88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401899G>A" "" "benign" "" "0000304226" "0" "50" "7" "144098963" "144098976" "del" "0" "01943" "NOBOX_000004" "g.144098963_144098976del" "" "" "" "NOBOX(NM_001080413.3):c.280_292+1delGAACTCACAAGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401870_144401883del" "" "VUS" "" "0000341373" "0" "90" "7" "144097293" "144097293" "del" "0" "02327" "NOBOX_000006" "g.144097293del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144400200del" "" "pathogenic" "" "0000531108" "0" "30" "7" "144095499" "144095499" "subst" "1.45605E-5" "01943" "NOBOX_000007" "g.144095499C>T" "" "" "" "NOBOX(NM_001080413.3):c.1650G>A (p.T550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144398406C>T" "" "likely benign" "" "0000531109" "0" "30" "7" "144098652" "144098652" "subst" "8.04147E-5" "01943" "NOBOX_000008" "g.144098652C>T" "" "" "" "NOBOX(NM_001080413.3):c.331G>A (p.G111R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144401559C>T" "" "likely benign" "" "0000652205" "1" "90" "7" "144096940" "144096940" "subst" "0.000163281" "03575" "NOBOX_000009" "g.144096940C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201947677}" "Germline" "" "rs201947677" "0" "" "" "g.144399847C>T" "" "pathogenic" "" "0000678013" "0" "50" "7" "144107254" "144107254" "subst" "0" "02327" "NOBOX_000010" "g.144107254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000708291" "11" "90" "7" "144098157" "144098157" "subst" "0" "03948" "NOBOX_000012" "g.144098157G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144401064G>A" "" "pathogenic" "ACMG" "0000708292" "21" "70" "7" "144096092" "144096092" "del" "0" "03948" "NOBOX_000011" "g.144096092del" "" "" "" "1421delG" "" "Germline" "yes" "" "0" "" "" "g.144398999del" "" "likely pathogenic" "ACMG" "0000839554" "0" "50" "7" "144098995" "144098995" "subst" "4.06749E-6" "03948" "NOBOX_000013" "g.144098995G>T" "0,0000289" "" "" "" "" "Germline" "?" "" "0" "" "" "g.144401902G>T" "" "VUS" "" "0000851504" "0" "50" "7" "144096925" "144096925" "subst" "0.00031372" "02325" "NOBOX_000014" "g.144096925C>T" "" "" "" "NOBOX(NM_001080413.3):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977560" "0" "70" "7" "144107242" "144107242" "subst" "0" "01804" "NOBOX_000015" "g.144107242G>A" "" "" "" "NOBOX(NM_001080413.3):c.79C>T (p.(Gln27*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000996264" "0" "50" "7" "144097306" "144097306" "subst" "2.84294E-5" "01804" "NOBOX_000016" "g.144097306C>T" "" "" "" "NOBOX(NM_001080413.3):c.944G>A (p.(Arg315His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996265" "0" "50" "7" "144099032" "144099032" "subst" "0" "01804" "NOBOX_000017" "g.144099032A>T" "" "" "" "NOBOX(NM_001080413.3):c.222T>A (p.(Asp74Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014317" "0" "50" "7" "144096038" "144096038" "subst" "0.000120229" "02325" "NOBOX_000018" "g.144096038C>T" "" "" "" "NOBOX(NM_001080413.3):c.1469+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036179" "0" "30" "7" "144094418" "144094418" "subst" "0.0302428" "01804" "NOBOX_000019" "g.144094418T>C" "" "" "" "NOBOX(NM_001080413.3):c.1991A>G (p.(Lys664Arg))" "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 NOBOX ## Count = 20 "{{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}}" "0000164358" "00014662" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Thr275Hisfs*13)" "4" "0000164567" "00014662" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.Thr275Hisfs*13" "4" "0000248767" "00014662" "10" "1549" "0" "1549" "0" "c.1549T>C" "r.(?)" "p.(Phe517Leu)" "" "0000249109" "00014662" "10" "1154" "11" "1154" "11" "c.1154+11T>C" "r.(=)" "p.(=)" "" "0000296512" "00014662" "10" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Leu88=)" "" "0000304226" "00014662" "50" "280" "0" "292" "1" "c.280_292+1del" "r.spl?" "p.?" "" "0000341373" "00014662" "90" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(Ala321ProfsTer27)" "" "0000531108" "00014662" "30" "1650" "0" "1650" "0" "c.1650G>A" "r.(?)" "p.(Thr550=)" "" "0000531109" "00014662" "30" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "0000652205" "00014662" "90" "1064" "0" "1064" "0" "c.1064G>A" "r.(?)" "p.(Arg355His)" "" "0000678013" "00014662" "50" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Gly23Ser)" "" "0000708291" "00014662" "90" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Arg276*)" "4" "0000708292" "00014662" "70" "1421" "0" "1421" "0" "c.1421delG" "r.(?)" "p.(Gly474Alafs*76)" "8" "0000839554" "00014662" "50" "259" "0" "259" "0" "c.259C>A" "r.(259c>a)" "p.(Pro87Thr)" "" "0000851504" "00014662" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" "" "0000977560" "00014662" "70" "79" "0" "79" "0" "c.79C>T" "r.(?)" "p.(Gln27*)" "" "0000996264" "00014662" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "0000996265" "00014662" "50" "222" "0" "222" "0" "c.222T>A" "r.(?)" "p.(Asp74Glu)" "" "0001014317" "00014662" "50" "1469" "5" "1469" "5" "c.1469+5G>A" "r.spl?" "p.?" "" "0001036179" "00014662" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Lys664Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000101685" "0000164358" "0000295516" "0000652205" "0000325318" "0000708291" "0000325319" "0000708292" "0000403978" "0000839554"