### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USP26) # 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}}" "USP26" "ubiquitin specific peptidase 26" "X" "q26.2" "unknown" "NG_013268.1" "UD_132084490400" "" "https://www.LOVD.nl/USP26" "" "1" "13485" "83844" "300309" "1" "1" "1" "1" "This 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/USP26_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2018-10-09 19:49:53" "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}}" "00000480" "USP26" "ubiquitin specific peptidase 26" "001" "NM_031907.1" "" "NP_114113.1" "" "" "" "-52" "2742" "2742" "132159507" "132162300" "00000" "2012-09-13 12:21:32" "" "" ## 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}}" "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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172930" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172931" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172932" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172933" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172934" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172935" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172936" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172937" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172938" "" "" "" "72" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00177015" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "47651" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00172930" "00187" "00172931" "00187" "00172932" "00187" "00172933" "00187" "00172934" "00187" "00172935" "00187" "00172936" "00187" "00172937" "00187" "00172938" "00187" "00177015" "00344" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00344, 01157 ## Count = 12 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "0000137794" "00187" "00172930" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137795" "00187" "00172931" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137796" "00187" "00172932" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137797" "00187" "00172933" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137798" "00187" "00172934" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137799" "00187" "00172935" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137800" "00187" "00172936" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137801" "00187" "00172937" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137802" "00187" "00172938" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000141832" "00344" "00177015" "02552" "Familial, autosomal recessive" "" "HP:0000666\r\nHP:0002451\r\nHP:0001285" "00y08m" "" "" "" "" "" "" "" "Epilepsy, hearing loss, and mental retardation syndrome (MIM 616577)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000173813" "00172930" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173814" "00172931" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173815" "00172932" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173816" "00172933" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173817" "00172934" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173818" "00172935" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173819" "00172936" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173820" "00172937" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173821" "00172938" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000177907" "00177015" "1" "02552" "02552" "2018-08-16 12:02:03" "" "" "SEQ-NG-I" "DNA" "blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000173813" "USP26" "0000173814" "USP26" "0000173815" "USP26" "0000173816" "USP26" "0000173817" "MAGT1" "0000173818" "ZMAT1" "0000173819" "GPR174" "0000173820" "GPR174" "0000173821" "GPR174" ## 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 = 19 "{{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}}" "0000007661" "20" "50" "X" "132161673" "132161673" "subst" "0.398269" "00037" "USP26_000001" "g.132161673C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.133027645C>T" "" "VUS" "" "0000009799" "20" "50" "X" "132161673" "132161673" "subst" "0.398269" "00037" "USP26_000001" "g.132161673C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.133027645C>T" "" "VUS" "" "0000319472" "0" "30" "X" "132162229" "132162229" "subst" "0.0000280929" "01943" "USP26_000007" "g.132162229C>T" "" "" "" "USP26(NM_031907.1):c.20G>A (p.R7H, p.(Arg7His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133028201C>T" "" "likely benign" "" "0000335564" "0" "50" "X" "132159922" "132159922" "subst" "0.0000785903" "01804" "USP26_000002" "g.132159922G>A" "" "" "" "USP26(NM_031907.1):c.2327C>T (p.(Thr776Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133025894G>A" "" "VUS" "" "0000335568" "0" "50" "X" "132161771" "132161771" "subst" "0" "01804" "USP26_000006" "g.132161771A>T" "" "" "" "USP26(NM_031907.1):c.478T>A (p.(Leu160Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133027743A>T" "" "VUS" "" "0000394052" "1" "50" "X" "132161205" "132161205" "subst" "0.000686996" "00124" "USP26_000014" "g.132161205A>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.133027177A>T" "" "VUS" "" "0000394053" "1" "50" "X" "132161159" "132161159" "subst" "0.0381874" "00124" "USP26_000013" "g.132161159G>A" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.133027131G>A" "" "VUS" "" "0000394054" "1" "50" "X" "132160826" "132160826" "subst" "0.0256492" "00124" "USP26_000012" "g.132160826G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.133026798G>A" "" "VUS" "" "0000394055" "1" "50" "X" "132160161" "132160161" "subst" "0.00308564" "00124" "USP26_000011" "g.132160161T>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P696P" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.133026133T>C" "" "VUS" "" "0000394056" "1" "50" "X" "132160043" "132160043" "subst" "0.0000392518" "00124" "USP26_000010" "g.132160043A>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.133026015A>T" "" "VUS" "" "0000394057" "1" "50" "X" "132160042" "132160042" "subst" "0.000039257" "00124" "USP26_000009" "g.132160042G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.133026014G>A" "" "VUS" "" "0000394058" "1" "50" "X" "132161883" "132161885" "dup" "0" "00124" "USP26_000016" "g.132161883_132161885dup" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.133027855_133027857dup" "" "VUS" "" "0000394059" "1" "50" "X" "132161755" "132161755" "subst" "0.0255524" "00124" "USP26_000015" "g.132161755A>G" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.133027727A>G" "" "VUS" "" "0000394060" "1" "50" "X" "132161673" "132161673" "subst" "0.398269" "00124" "USP26_000001" "g.132161673C>T" "72/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E192E" "recurrent, found 72 times" "Germline" "" "" "0" "" "" "g.133027645C>T" "" "VUS" "" "0000406002" "21" "30" "X" "132160273" "132160273" "subst" "0.00129611" "02552" "USP26_000008" "g.132160273G>A" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs145695346" "0" "" "" "g.133026245G>A" "" "likely benign" "" "0000573588" "0" "30" "X" "132162229" "132162229" "subst" "0.0000280929" "01804" "USP26_000007" "g.132162229C>T" "" "" "" "USP26(NM_031907.1):c.20G>A (p.R7H, p.(Arg7His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133028201C>T" "" "likely benign" "" "0000682103" "0" "30" "X" "132161907" "132161907" "subst" "0.00132121" "01943" "USP26_000017" "g.132161907C>T" "" "" "" "USP26(NM_031907.1):c.342G>A (p.K114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728434" "0" "50" "X" "132160970" "132160970" "subst" "0.0000112143" "02325" "USP26_000018" "g.132160970T>C" "" "" "" "USP26(NM_031907.2):c.1279A>G (p.T427A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867047" "0" "30" "X" "132161459" "132161459" "subst" "0.000151382" "01943" "USP26_000019" "g.132161459A>G" "" "" "" "USP26(NM_031907.1):c.790T>C (p.L264=)" "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 USP26 ## Count = 19 "{{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}}" "0000007661" "00000480" "50" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(=)" "" "0000009799" "00000480" "50" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(=)" "" "0000319472" "00000480" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" "" "0000335564" "00000480" "50" "2327" "0" "2327" "0" "c.2327C>T" "r.(?)" "p.(Thr776Ile)" "" "0000335568" "00000480" "50" "478" "0" "478" "0" "c.478T>A" "r.(?)" "p.(Leu160Met)" "" "0000394052" "00000480" "50" "1044" "0" "1044" "0" "c.1044T>A" "r.(?)" "p.(Phe348Leu)" "" "0000394053" "00000480" "50" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Leu364Phe)" "" "0000394054" "00000480" "50" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "0000394055" "00000480" "50" "2088" "0" "2088" "0" "c.2088A>G" "r.(=)" "p.(=)" "" "0000394056" "00000480" "50" "2206" "0" "2206" "0" "c.2206T>A" "r.(?)" "p.(Ser736Thr)" "" "0000394057" "00000480" "50" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Ser736Phe)" "" "0000394058" "00000480" "50" "367" "0" "369" "0" "c.367_369dup" "r.(?)" "p.(Thr123dup)" "" "0000394059" "00000480" "50" "494" "0" "494" "0" "c.494T>C" "r.(?)" "p.(Leu165Ser)" "" "0000394060" "00000480" "50" "576" "0" "576" "0" "c.576G>A" "r.(=)" "p.(=)" "" "0000406002" "00000480" "30" "1976" "0" "1976" "0" "c.1976C>T" "r.(?)" "p.(Thr659Met)" "" "0000573588" "00000480" "30" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" "" "0000682103" "00000480" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Lys114=)" "" "0000728434" "00000480" "50" "1279" "0" "1279" "0" "c.1279A>G" "r.(?)" "p.(Thr427Ala)" "" "0000867047" "00000480" "30" "790" "0" "790" "0" "c.790T>C" "r.(?)" "p.(Leu264=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007661" "0000000210" "0000009799" "0000173813" "0000394052" "0000173814" "0000394053" "0000173815" "0000394054" "0000173816" "0000394055" "0000173817" "0000394056" "0000173818" "0000394057" "0000173819" "0000394058" "0000173820" "0000394059" "0000173821" "0000394060" "0000177907" "0000406002"