### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MAATS1)
# 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}}"
"MAATS1" "MYCBP associated and testis expressed 1" "3" "q13.33" "unknown" "NC_000003.11" "UD_145628695994" "" "https://www.LOVD.nl/MAATS1" "" "1" "24010" "89876" "609910" "1" "1" "1" "1" "NOTE: gene name changed from MAATS1 to CFAP91, alias C3orf15\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from MAATS1 to CFAP91" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2020-09-24 16:54:22" "00006" "2022-02-15 17:48:54"
## 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}}"
"00024855" "MAATS1" "MYCBP-associated, testis expressed 1" "001" "NM_033364.3" "" "NP_203528.2" "" "" "" "-77" "4356" "2304" "119421869" "119485949" "00000" "2017-08-08 15:36:00" "" ""
## 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}}"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"05992" "CHAPLE" "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy" "AR" "226300" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
"06929" "SPGF51" "spermatogenic failure, type 51" "AR" "619177" "" "" "" "00006" "2022-04-14 21:11:40" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"MAATS1" "00201"
"MAATS1" "06929"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00311400" "" "" "" "1" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat1"
"00311401" "" "" "" "1" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat2"
"00311402" "" "" "" "1" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat3"
"00311403" "" "" "" "1" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat4"
"00311404" "" "" "" "2" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat5"
"00311405" "" "" "" "2" "" "00006" "{PMID:Martinez 2020:32161152}" "" "M" "" "France" "" "0" "" "" "North Africa" "Pat6"
"00402918" "" "" "" "1" "" "00006" "{PMID:Ozen 2017:28657829}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam3Pat1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00311400" "00201"
"00311401" "00201"
"00311402" "00201"
"00311403" "00201"
"00311404" "00201"
"00311405" "00201"
"00402918" "05992"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00201, 05992, 06929
## Count = 7
"{{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}}"
"0000236647" "00201" "00311400" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000236648" "00201" "00311401" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000236649" "00201" "00311402" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000236650" "00201" "00311403" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000236651" "00201" "00311404" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000236652" "00201" "00311405" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe asthenozoospermia" "" "" "" "" "" "" "" "" "infertility, multiple morphological abnormalities of the flagella"
"0000295666" "05992" "00402918" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "CHAPLE" "protein-losing enteropathy, thrombosis"
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000312570" "00311400" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312571" "00311401" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312572" "00311402" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312573" "00311403" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312574" "00311404" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000312575" "00311405" "1" "00006" "00006" "2020-09-24 17:16:48" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000404159" "00402918" "1" "00006" "00006" "2022-02-14 14:33:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000312570" "MAATS1"
"0000312571" "MAATS1"
"0000312572" "MAATS1"
"0000312573" "MAATS1"
"0000312574" "MAATS1"
"0000312575" "MAATS1"
## 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}}"
"0000694170" "3" "90" "3" "119434591" "119434591" "subst" "0" "00006" "MAATS1_000004" "g.119434591G>A" "" "{PMID:Martinez 2020:32161152}" "" "" "" "Germline" "" "rs147597066" "0" "" "" "g.119715744G>A" "" "pathogenic (recessive)" ""
"0000694171" "3" "90" "3" "119434591" "119434591" "subst" "0" "00006" "MAATS1_000004" "g.119434591G>A" "" "{PMID:Martinez 2020:32161152}" "" "" "" "Germline" "" "rs147597066" "0" "" "" "g.119715744G>A" "" "pathogenic (recessive)" ""
"0000694172" "3" "90" "3" "119422069" "119422069" "subst" "0.0000887424" "00006" "MAATS1_000003" "g.119422069G>C" "" "{PMID:Martinez 2020:32161152}" "" "" "effect on RNA predicted from expression cloning minigene splicing assay" "Germline" "" "rs149348782" "0" "" "" "g.119703222G>C" "" "pathogenic (recessive)" ""
"0000694173" "3" "90" "3" "119422069" "119422069" "subst" "0.0000887424" "00006" "MAATS1_000003" "g.119422069G>C" "" "{PMID:Martinez 2020:32161152}" "" "" "effect on RNA predicted from expression cloning minigene splicing assay" "Germline" "" "rs149348782" "0" "" "" "g.119703222G>C" "" "pathogenic (recessive)" ""
"0000694174" "3" "90" "3" "119422069" "119422069" "subst" "0.0000887424" "00006" "MAATS1_000003" "g.119422069G>C" "" "{PMID:Martinez 2020:32161152}" "" "" "effect on RNA predicted from expression cloning minigene splicing assay" "Germline" "" "rs149348782" "0" "" "" "g.119703222G>C" "" "pathogenic (recessive)" ""
"0000694175" "3" "90" "3" "119422069" "119422069" "subst" "0.0000887424" "00006" "MAATS1_000003" "g.119422069G>C" "" "{PMID:Martinez 2020:32161152}" "" "" "effect on RNA predicted from expression cloning minigene splicing assay" "Germline" "" "rs149348782" "0" "" "" "g.119703222G>C" "" "pathogenic (recessive)" ""
"0000839892" "3" "50" "3" "119451267" "119451267" "subst" "0.000143235" "00006" "MAATS1_000005" "g.119451267C>G" "" "{PMID:Ozen 2017:28657829}" "" "Pro382Asp" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
## 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 MAATS1
## 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}}"
"0000694170" "00024855" "90" "682" "1" "682" "1" "c.682+1G>A" "r.spl" "p.?" ""
"0000694171" "00024855" "90" "682" "1" "682" "1" "c.682+1G>A" "r.spl" "p.?" ""
"0000694172" "00024855" "90" "124" "0" "124" "0" "c.124G>C" "r.[(124g>c;124_125ins124+1_124+49)]" "p.(Asp42Argfs*15)" ""
"0000694173" "00024855" "90" "124" "0" "124" "0" "c.124G>C" "r.[(124g>c;124_125ins124+1_124+49)]" "p.(Asp42Argfs*15)" ""
"0000694174" "00024855" "90" "124" "0" "124" "0" "c.124G>C" "r.[(124g>c;124_125ins124+1_124+49)]" "p.(Asp42Argfs*15)" ""
"0000694175" "00024855" "90" "124" "0" "124" "0" "c.124G>C" "r.[(124g>c;124_125ins124+1_124+49)]" "p.(Asp42Argfs*15)" ""
"0000839892" "00024855" "50" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Pro382Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000312570" "0000694170"
"0000312571" "0000694171"
"0000312572" "0000694172"
"0000312573" "0000694173"
"0000312574" "0000694174"
"0000312575" "0000694175"
"0000404159" "0000839892"