### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZP1) # 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}}" "ZP1" "zona pellucida glycoprotein 1 (sperm receptor)" "11" "q12.2" "unknown" "NG_034138.1" "UD_132465179505" "" "https://www.LOVD.nl/ZP1" "" "1" "13187" "22917" "195000" "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/ZP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-09 09:47:17" "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}}" "00023764" "ZP1" "zona pellucida glycoprotein 1 (sperm receptor)" "001" "NM_207341.2" "" "NP_997224.2" "" "" "" "-20" "1952" "1917" "60635015" "60643164" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04082" "OZEMA1;OOMD" "ocyte/zygote/embryo maturation arrest, type 1" "AR" "615774" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-08 11:48:51" "05450" "OZEMA;OOMD" "ocyte/zygote/embryo maturation arrest" "" "" "" "" "" "00006" "2018-07-09 09:38:13" "00006" "2024-11-08 11:43:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZP1" "04082" "ZP1" "05450" ## 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}}" "00165313" "" "" "" "4" "" "00006" "{PMID:Huang 2014:24670168}" "4-generation family, 4 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "China" "" "0" "" "" "Han Chinese" "24670168-FamPatIV1/3/4/5" "00165318" "" "" "" "2" "" "03229" "{DOI:Sun 2018:10.1101/363911}" "3-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "China" "" "0" "" "" "" "FamPatII2" "00227921" "" "" "00165318" "1" "" "03229" "{DOI:Sun 2018:10.1101/363911}" "younger sister" "F" "no" "China" "" "0" "" "" "Sardinian" "FamPatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00165313" "05450" "00165318" "05450" "00227921" "05450" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04082, 05450 ## Count = 3 "{{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}}" "0000130177" "05450" "00165313" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "OOMD-1" "oocyte maturation defect" "0000184399" "05450" "00165318" "03229" "Familial, autosomal recessive" "28y" "Empty ovarian follicle (HP:0031067), Female infertility(HP:0008222), Autosomal recessive inheritance(HP:0000007)" "23y" "28y" "Female infertility (HP:0008222)" "" "" "" "" "OOMD-1" "empty follicle syndrome" "0000184404" "05450" "00227921" "03229" "Familial, autosomal recessive" "23y" "Empty ovarian follicle (HP:0031067), Female infertility(HP:0008222), Autosomal recessive inheritance(HP:0000007)" "20y" "23y" "Female infertility (HP:0008222)" "" "" "" "" "OOMD-1" "empty follicle syndrome" ## 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}}" "0000166191" "00165313" "1" "00006" "00006" "2018-07-09 09:41:40" "" "" "SEQ" "DNA" "" "" "0000166196" "00165318" "1" "03229" "00006" "2018-07-09 10:22:04" "00006" "2019-06-24 12:31:59" "SEQ;SEQ-NG" "DNA" "" "WES" "0000229008" "00227921" "1" "03229" "03229" "2019-03-14 11:39:29" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000166191" "ZP1" "0000166191" "ZP2" "0000166191" "ZP3" "0000166191" "ZP4" "0000166196" "ZP1" ## 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 = 7 "{{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}}" "0000254369" "0" "30" "11" "60637922" "60637922" "subst" "0" "01943" "ZP1_000001" "g.60637922A>C" "" "" "" "ZP1(NM_207341.3):c.800A>C (p.E267A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60870449A>C" "" "likely benign" "" "0000371864" "3" "90" "11" "60640691" "60640698" "del" "0" "00006" "ZP1_000002" "g.60640691_60640698del" "" "{PMID:Huang 2014:24670168}" "" "" "variant not in 420 control chromosomes" "Germline" "yes" "" "0" "" "" "g.60873218_60873225del" "" "pathogenic (recessive)" "" "0000371879" "11" "90" "11" "60635204" "60635208" "del" "0" "03229" "ZP1_000003" "g.60635204_60635208del" "" "{DOI:Sun 2018:10.1101/363911}" "" "170_174del" "" "Germline" "yes" "" "0" "" "" "g.60867731_60867735del" "" "pathogenic (recessive)" "" "0000371880" "21" "90" "11" "60640691" "60640698" "del" "0" "03229" "ZP1_000002" "g.60640691_60640698del" "" "{DOI:Sun 2018:10.1101/363911}" "" "1169_1176del" "" "Germline" "yes" "" "0" "" "" "g.60873218_60873225del" "" "pathogenic (recessive)" "" "0000497674" "11" "90" "11" "60635204" "60635208" "del" "0" "03229" "ZP1_000003" "g.60635204_60635208del" "" "{DOI:Sun 2018:10.1101/363911}" "" "170_174del" "" "Germline" "yes" "" "0" "" "" "g.60867731_60867735del" "" "pathogenic (recessive)" "" "0000497675" "21" "90" "11" "60640691" "60640698" "del" "0" "03229" "ZP1_000002" "g.60640691_60640698del" "" "{DOI:Sun 2018:10.1101/363911}" "" "1169_1176del" "" "Germline" "yes" "" "0" "" "" "g.60873218_60873225del" "" "pathogenic (recessive)" "" "0000979669" "0" "30" "11" "60637010" "60637010" "subst" "0.0024726" "01804" "ZP1_000004" "g.60637010G>A" "" "" "" "ZP1(NM_207341.4):c.319G>A (p.(Asp107Asn))" "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 ZP1 ## Count = 7 "{{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}}" "0000254369" "00023764" "30" "800" "0" "800" "0" "c.800A>C" "r.(?)" "p.(Glu267Ala)" "" "0000371864" "00023764" "90" "1169" "0" "1176" "0" "c.1169_1176del" "r.(?)" "p.(Ile390Thrfs*16)" "7" "0000371879" "00023764" "90" "170" "0" "174" "0" "c.170_174del" "r.(?)" "p.(Gly57Aspfs*9)" "1" "0000371880" "00023764" "90" "1169" "0" "1176" "0" "c.1169_1176del" "r.(?)" "p.(Ile390Thrfs*16)" "7" "0000497674" "00023764" "90" "170" "0" "174" "0" "c.170_174del" "r.(?)" "p.(Gly57Aspfs*9)" "1" "0000497675" "00023764" "90" "1169" "0" "1176" "0" "c.1169_1176del" "r.(?)" "p.(Ile390Thrfs*16)" "7" "0000979669" "00023764" "30" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Asp107Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000166191" "0000371864" "0000166196" "0000371879" "0000166196" "0000371880" "0000229008" "0000497674" "0000229008" "0000497675"