### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SPATA22) # 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}}" "SPATA22" "spermatogenesis associated 22" "17" "p13.3" "unknown" "NC_000017.10" "UD_132438275005" "" "https://www.LOVD.nl/SPATA22" "" "1" "30705" "84690" "617673" "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" "2024-11-24 14:10:35" "00006" "2024-11-24 20:48:05" ## 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}}" "00025959" "SPATA22" "transcript variant 3 (expired, new version available) (expired, new version available) (expired, new version available)" "006" "NM_001170698.2" "" "NP_001164169.1" "" "" "MANE select" "-197" "1228" "1092" "3375099" "3343305" "00006" "2024-11-24 14:04:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" "07134" "SPGF96" "spermatogenic failure, type 96" "AR" "621001" "" "" "" "00006" "2024-11-24 14:03:42" "" "" "07135" "POF25" "ovarian failure, premature, type 25" "AR" "621002" "" "" "" "00006" "2024-11-24 14:14:34" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SPATA22" "05562" "SPATA22" "07134" "SPATA22" "07135" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00457984" "" "" "" "1" "" "00006" "{PMID:Wu 2022:34392356}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "PK-INF-586PatIV3" "00457988" "" "" "" "4" "" "00006" "{PMID:Yao 2022:35285020}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "China" "" "0" "" "" "" "FamPatIV1/2" "00457989" "" "" "" "1" "" "00006" "{PMID:Yao 2022:35285020}" "2 brothers" "M" "yes" "China" "" "0" "" "" "" "FamPatIV3/4" "00457990" "" "" "" "1" "" "00006" "{PMID:Yao 2022:35285020}" "" "F" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00457984" "05895" "00457988" "05370" "00457989" "00201" "00457990" "04187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00201, 04187, 05370, 05562, 05895, 07134, 07135 ## Count = 4 "{{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}}" "0000346434" "05895" "00457984" "00006" "Familial, autosomal recessive" "" "see paper; ..., non-obstructive azoospermia, no sperm left/ight testes" "" "" "" "" "" "" "" "SPGF96" "primary infertility" "0000346438" "05370" "00457988" "00006" "Familial, autosomal recessive" "" "see paper; ..., 14y/13y-menarche, irregular menstrual cycles, no amenorrhea; 19y/22y-abortion; atrophic ovaries, few or no follicles" "" "" "" "" "" "" "" "POF25" "female infertility" "0000346439" "00201" "00457989" "00006" "Familial, autosomal recessive" "30y/28y" "see paper; ..., non-obstructive azoospermia; normal penis, normal epididymis, normal prostate, normal scrotum, normal vas deferens; complete azoospermia" "" "" "" "" "" "" "" "SPGF96" "male infertility" "0000346440" "04187" "00457990" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., 15y-menarche, irregular menstrual cycles, ovaries atrophic, no visible follicle" "" "" "" "" "" "" "" "POF25" "premature ovarian failure" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000459604" "00457984" "1" "00006" "00006" "2024-11-24 14:21:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000459608" "00457988" "1" "00006" "00006" "2024-11-24 14:48:21" "" "" "SEQ-NG" "DNA" "" "WES" "0000459609" "00457989" "1" "00006" "00006" "2024-11-24 14:53:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000459610" "00457990" "1" "00006" "00006" "2024-11-24 15:00:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000459610" "SPATA22" ## 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 = 5 "{{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}}" "0001017675" "3" "90" "17" "3366032" "3366032" "del" "0" "00006" "SPATA22_000002" "g.3366032del" "" "{PMID:Wu 2022:34392356}" "" "" "" "Germline" "" "" "0" "" "" "g.3462738del" "" "pathogenic (recessive)" "" "0001017679" "3" "90" "17" "3352373" "3352373" "subst" "2.44137E-5" "00006" "SPATA22_000003" "g.3352373G>A" "" "{PMID:Yao 2022:35285020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3449079G>A" "" "pathogenic (recessive)" "" "0001017680" "3" "90" "17" "3352373" "3352373" "subst" "2.44137E-5" "00006" "SPATA22_000003" "g.3352373G>A" "" "{PMID:Yao 2022:35285020}" "" "" "" "Germline" "yes" "" "0" "" "" "g.3449079G>A" "" "pathogenic (recessive)" "" "0001017681" "1" "90" "17" "3372589" "3372589" "subst" "0" "00006" "SPATA22_000004" "g.3372589G>A" "" "{PMID:Yao 2022:35285020}" "" "" "" "Germline" "" "" "0" "" "" "g.3469295G>A" "" "pathogenic (recessive)" "" "0001017693" "2" "90" "17" "3346467" "3346467" "subst" "0" "00006" "SPATA22_000005" "g.3346467C>T" "" "{PMID:Yao 2022:35285020}" "" "" "effect on RNA predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.3443173C>T" "" "pathogenic (recessive)" "" ## 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 SPATA22 ## Count = 5 "{{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}}" "0001017675" "00025959" "90" "203" "0" "203" "0" "c.203del" "r.(?)" "p.(Leu68TrpfsTer4)" "" "0001017679" "00025959" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" "" "0001017680" "00025959" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" "" "0001017681" "00025959" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Ter)" "" "0001017693" "00025959" "90" "900" "1" "900" "1" "c.900+1G>A" "r.(803_900del)" "p.fs" "8i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000459604" "0001017675" "0000459608" "0001017679" "0000459609" "0001017680" "0000459610" "0001017681" "0000459610" "0001017693"