### LOVD-version 3000-280 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CXorf21)
# 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}}"
"CXorf21" "chromosome X open reading frame 21" "X" "p21.3" "unknown" "NC_000023.10" "UD_132084557440" "" "https://www.LOVD.nl/TASL" "" "1" "25667" "80231" "0" "1" "1" "1" "1" "NOTE: gene name changed from CXorf21 to TASL\r\nThis gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/CXorf21_codingDNA.html" "1" "" "NOTE: gene name changed from CXorf21 to TASL" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2020-11-27 18:31:12" "00000" "2022-05-09 16:01:56"
## 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}}"
"00005938" "CXorf21" "chromosome X open reading frame 21" "001" "NM_025159.2" "" "NP_079435.1" "" "" "" "-395" "1532" "906" "30596033" "30576941" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00172910" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172911" "" "" "" "122" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00172910" "00187"
"00172911" "00187"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00187
## Count = 2
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000137774" "00187" "00172910" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
"0000137775" "00187" "00172911" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX"
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000173793" "00172910" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000173794" "00172911" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{geneid}}"
"0000173793" "HUWE1"
"0000173794" "HUWE1"
## 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 = 8
"{{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}}"
"0000333571" "0" "50" "X" "30578378" "30578378" "subst" "0.000633344" "01804" "CXorf21_000002" "g.30578378T>G" "" "" "" "CXorf21(NM_025159.2):c.95A>C (p.(Glu32Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30560261T>G" "" "VUS" ""
"0000394032" "1" "50" "X" "30578111" "30578111" "subst" "0.000363104" "00124" "CXorf21_000004" "g.30578111C>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.30559994C>A" "" "VUS" ""
"0000394033" "1" "50" "X" "30577846" "30577846" "subst" "0.823193" "00124" "CXorf21_000003" "g.30577846A>C" "122/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V209V" "recurrent, found 122 times" "Germline" "" "" "0" "" "" "g.30559729A>C" "" "VUS" ""
"0000575527" "0" "30" "X" "30578184" "30578184" "subst" "0.00000562057" "01943" "CXorf21_000005" "g.30578184A>C" "" "" "" "CXorf21(NM_025159.2):c.289T>G (p.L97V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30560067A>C" "" "likely benign" ""
"0000575528" "0" "30" "X" "30578250" "30578250" "subst" "0.00047093" "01943" "CXorf21_000006" "g.30578250G>T" "" "" "" "CXorf21(NM_025159.2):c.223C>A (p.H75N, p.(His75Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30560133G>T" "" "likely benign" ""
"0000619458" "0" "30" "X" "30578111" "30578111" "subst" "0.000363104" "01943" "CXorf21_000004" "g.30578111C>A" "" "" "" "CXorf21(NM_025159.2):c.362G>T (p.C121F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30559994C>A" "" "likely benign" ""
"0000810282" "0" "30" "X" "30577925" "30577925" "subst" "0.0000284524" "01943" "CXorf21_000007" "g.30577925C>T" "" "" "" "CXorf21(NM_025159.2):c.548G>A (p.R183Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867312" "0" "30" "X" "30578250" "30578250" "subst" "0.00047093" "01804" "CXorf21_000006" "g.30578250G>T" "" "" "" "CXorf21(NM_025159.2):c.223C>A (p.H75N, p.(His75Asn))" "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 CXorf21
## Count = 8
"{{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}}"
"0000333571" "00005938" "50" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Glu32Ala)" ""
"0000394032" "00005938" "50" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Cys121Phe)" ""
"0000394033" "00005938" "50" "627" "0" "627" "0" "c.627T>G" "r.(=)" "p.(=)" ""
"0000575527" "00005938" "30" "289" "0" "289" "0" "c.289T>G" "r.(?)" "p.(Leu97Val)" ""
"0000575528" "00005938" "30" "223" "0" "223" "0" "c.223C>A" "r.(?)" "p.(His75Asn)" ""
"0000619458" "00005938" "30" "362" "0" "362" "0" "c.362G>T" "r.(?)" "p.(Cys121Phe)" ""
"0000810282" "00005938" "30" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183Gln)" ""
"0000867312" "00005938" "30" "223" "0" "223" "0" "c.223C>A" "r.(?)" "p.(His75Asn)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000173793" "0000394032"
"0000173794" "0000394033"