### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBE2A) # 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}}" "UBE2A" "ubiquitin-conjugating enzyme E2A" "X" "q24" "unknown" "NG_009267.1" "UD_132084522333" "" "https://www.LOVD.nl/UBE2A" "" "1" "12472" "7319" "312180" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. The database was initiated associated with Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543." "" "g" "http://databases.lovd.nl/shared/refseq/UBE2A_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2017-03-29 08:57:48" "00000" "2025-09-10 11:50:03" ## 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}}" "00001384" "UBE2A" "transcript variant 1" "001" "NM_003336.2" "" "NP_003327.2" "" "" "" "-176" "1622" "459" "118708499" "118718381" "00000" "2012-09-13 13:30:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "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" "01126" "MRXSN" "mental retardation, X-linked syndromic, Nascimento-type (MRXSN)" "XLR" "300860" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-18 13:47:35" "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 = 2 "{{geneid}}" "{{diseaseid}}" "UBE2A" "00139" "UBE2A" "01126" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "" "" "00016963" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377131-Pat?" "00016964" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377132-Pat?" "00017023" "" "" "" "1" "" "00714" "{PMID:Czeschik 2013:24053514}, {PMID:Tzschach 2015:25649377}" "2-generation family, 1 affected, unaffected non-carrier mother" "M" "" "" "" "0" "" "" "?" "Pat6;Pat18" "00101391" "" "" "" "1" "" "01864" "" "" "M" "no" "China" ">08y" "0" "" "" "" "P4" "00183127" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 3 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamL67" "00183128" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 2 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamL95" "00301513" "" "" "" "2" "" "03580" "{PMID:Giugliano 2018:29283210}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "?" "Italy" "" "0" "" "" "" "FamPat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016963" "00187" "00016964" "00187" "00017023" "00187" "00101391" "00139" "00183127" "00187" "00183128" "00187" "00301513" "01126" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01126, 01157 ## Count = 10 "{{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}}" "0000015322" "00187" "00016963" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000015323" "00187" "00016964" "00124" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "0000015382" "00187" "00017023" "00714" "Isolated (sporadic)" "" "born at term, large body measurements, length, weight/OFC >97th centile, congenital heart disease, muscular hypotonia, feeding difficulties; first months seizures; psychomotor development severely retarded; MRI brain progressive brain atrophy" "" "" "" "" "" "" "" "" "" "intellectual disability" "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" "" "" "" "" "" "" "" "0000079597" "00139" "00101391" "01864" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000079598" "00139" "00101391" "01864" "Isolated (sporadic)" "" "HP:0001999; HP:0000729; HP:0007018; HP:0001007; intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "0000143881" "00187" "00183127" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000143882" "00187" "00183128" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "0000228643" "01126" "00301513" "03580" "Familial, X-linked recessive" "" "" "" "" "35y" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000016940" "00016963" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000016941" "00016964" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000017000" "00017023" "1" "00714" "00001" "2014-06-04 15:49:39" "" "" "SEQ" "DNA" "" "" "0000101838" "00101391" "1" "01864" "01864" "2017-03-29 08:38:00" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000184085" "00183127" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000184086" "00183128" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000302636" "00301513" "1" "03580" "03580" "2020-05-18 13:05:11" "" "" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "" "X-exome" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000016940" "UBE2A" "0000016941" "UBE2A" "0000017000" "UBE2A" "0000101838" "UBE2A" "0000184085" "UBE2A" "0000184086" "UBE2A" "0000302636" "UBE2A" ## 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 = 15 "{{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}}" "0000002124" "20" "50" "X" "118709577" "118709577" "dup" "0" "00037" "UBE2A_000004" "g.118709577dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119575614dup" "" "VUS" "" "0000003197" "20" "50" "X" "118709577" "118709577" "dup" "0" "00037" "UBE2A_000005" "g.118709577dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119575614dup" "" "VUS" "" "0000009661" "20" "50" "X" "118709577" "118709577" "dup" "0" "00037" "UBE2A_000004" "g.118709577dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119575614dup" "" "VUS" "" "0000011177" "20" "50" "X" "118709577" "118709577" "dup" "0" "00037" "UBE2A_000005" "g.118709577dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119575614dup" "" "VUS" "" "0000036956" "1" "55" "X" "118716614" "118716614" "subst" "0" "00124" "UBE2A_000001" "g.118716614T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_181762.1:c.215T>C (F72S)" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.119582651T>C" "" "VUS" "" "0000036957" "1" "55" "X" "118716637" "118716637" "subst" "0" "00124" "UBE2A_000002" "g.118716637C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "NM_181762.1:c.238C>G (Q80E)" "found once, non-recurrent change" "Germline" "?" "" "0" "" "" "g.119582674C>G" "" "VUS" "" "0000036958" "0" "90" "X" "118717146" "118717146" "dup" "0" "00714" "UBE2A_000003" "g.118717146dup" "" "{PMID:Tzschach 2015:25649377}" "" "" "" "De novo" "?" "" "0" "" "" "g.119583183dup" "" "pathogenic" "" "0000164580" "21" "90" "X" "118708923" "118708923" "del" "0" "01864" "UBE2A_000006" "g.118708923del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.119574960del" "" "pathogenic" "" "0000313601" "0" "70" "X" "118708894" "118708894" "subst" "0" "02329" "UBE2A_000007" "g.118708894C>A" "" "" "" "UBE2A(NM_003336.4):c.75C>A (p.S25R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119574931C>A" "" "likely pathogenic" "" "0000408054" "21" "90" "X" "118708693" "118708693" "subst" "0" "00006" "UBE2A_000008" "g.118708693C>T" "" "{PMID:Hu 2016:25644381}" "" "UBE2A R7W" "" "Germline" "yes" "" "0" "" "" "g.119574730C>T" "" "pathogenic" "" "0000408055" "21" "90" "X" "118716570" "118716571" "del" "0" "00006" "UBE2A_000009" "g.118716570_118716571del" "" "{PMID:Hu 2016:25644381}" "" "UBE2A I87Mfs*14" "" "Germline" "yes" "" "0" "" "" "g.119582607_119582608del" "" "pathogenic" "" "0000665976" "21" "90" "X" "118716639" "118716639" "subst" "0" "03580" "UBE2A_000010" "g.118716639G>A" "" "{PMID:Giugliano 2018:29283210}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119582676G>A" "" "pathogenic (recessive)" "" "0000693301" "0" "30" "X" "118709366" "118709366" "subst" "2.23751E-5" "01943" "UBE2A_000011" "g.118709366A>G" "" "" "" "UBE2A(NM_003336.3):c.151+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867002" "0" "50" "X" "118716622" "118716622" "subst" "1.1197E-5" "01943" "UBE2A_000012" "g.118716622A>G" "" "" "" "UBE2A(NM_003336.3):c.313A>G (p.I105V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047940" "0" "70" "X" "118708901" "118708901" "subst" "0" "03779" "UBE2A_000013" "g.118708901C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## 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 UBE2A ## Count = 15 "{{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}}" "0000002124" "00001384" "50" "151" "214" "151" "214" "c.151+214dup" "r.(?)" "p.(=)" "3i" "0000003197" "00001384" "50" "151" "214" "151" "214" "c.151+214dup" "r.(=)" "p.(=)" "3i" "0000009661" "00001384" "50" "151" "214" "151" "214" "c.151+214dup" "r.(?)" "p.(=)" "3i" "0000011177" "00001384" "50" "151" "214" "151" "214" "c.151+214dup" "r.(=)" "p.(=)" "3i" "0000036956" "00001384" "55" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Phe102Ser)" "5" "0000036957" "00001384" "55" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Gln110Glu)" "5" "0000036958" "00001384" "90" "387" "0" "387" "0" "c.387dup" "r.(?)" "p.(Tyr130Valfs*9)" "6" "0000164580" "00001384" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Val35Glyfs*23)" "2" "0000313601" "00001384" "70" "75" "0" "75" "0" "c.75C>A" "r.(?)" "p.(Ser25Arg)" "" "0000408054" "00001384" "00" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "0000408055" "00001384" "00" "261" "0" "262" "0" "c.261_262del" "r.(?)" "p.(Ile87Metfs*14)" "" "0000665976" "00001384" "90" "330" "0" "330" "0" "c.330G>A" "r.242_330del" "p.Tyr82Serfs*4" "5" "0000693301" "00001384" "30" "151" "3" "151" "3" "c.151+3A>G" "r.spl?" "p.?" "" "0000867002" "00001384" "50" "313" "0" "313" "0" "c.313A>G" "r.(?)" "p.(Ile105Val)" "" "0001047940" "00001384" "70" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Pro28Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002124" "0000000209" "0000003197" "0000000210" "0000009661" "0000000210" "0000011177" "0000016940" "0000036956" "0000016941" "0000036957" "0000017000" "0000036958" "0000101838" "0000164580" "0000184085" "0000408054" "0000184086" "0000408055" "0000302636" "0000665976"