### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBE4A) # 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}}" "UBE4A" "ubiquitination factor E4A" "11" "q23.3" "unknown" "NC_000011.9" "UD_132319535282" "" "https://www.LOVD.nl/UBE4A" "" "1" "12499" "9354" "603753" "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" "2025-09-26 10:58:12" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00022271" "UBE4A" "transcript variant 1" "001" "NM_004788.3" "" "NP_004779.2" "" "" "" "-135" "5993" "3222" "118230296" "118269926" "" "0000-00-00 00:00:00" "" "" "00026012" "UBE4A" "transcript variant 2 (expired, new version available)" "002" "NM_001204077.2" "" "NP_001191006.1" "" "" "MANE select" "-135" "5972" "3201" "118230296" "118269926" "00006" "2025-09-26 10:56:17" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07182" "NEDHMS" "neurodevelopmental disorder with hypotonia and gross motor and speech delay" "AR" "619639" "" "" "" "00006" "2025-09-26 10:57:48" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UBE4A" "05611" "UBE4A" "07182" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00361529" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "16DG0294" "00466854" "" "" "" "2" "" "04901" "" "2 generational family, 2 affected (2M), unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "South asian" "NDAR03-2" "00466855" "" "" "00466854" "1" "" "04901" "" "sib" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "NDAR03-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00361529" "00139" "00466854" "05611" "00466855" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 07182 ## Count = 3 "{{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}}" "0000256934" "00139" "00361529" "00006" "Familial, autosomal recessive" "14y" "syndromic; global developmental delay, truncal obesity, prominent teeth, small hands, abnormal gait" "" "" "" "" "" "" "" "" "intellectual disability" "0000352216" "05611" "00466854" "04901" "Familial, autosomal recessive" "08y" "Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), seizures" "00y06m" "09y" "" "" "" "" "" "NEDHMS" "neurodevelopmental disorder" "0000352217" "05611" "00466855" "04901" "Familial, autosomal recessive" "17y" "Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), aggression" "00y06m" "18y" "" "" "" "" "" "NEDHMS (OMIM #619639)" "NDD" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000362757" "00361529" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000468518" "00466854" "1" "04901" "04901" "2025-09-24 19:57:47" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES (whole exome sequencing)" "0000468519" "00466855" "1" "04901" "04901" "2025-09-24 20:23:30" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000362757" "UBE4A" ## 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}}" "0000349685" "0" "50" "11" "118240226" "118240226" "subst" "0" "02327" "UBE4A_000002" "g.118240226G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.118369511G>A" "" "VUS" "" "0000763131" "3" "90" "11" "118240226" "118240226" "subst" "0" "00006" "UBE4A_000002" "g.118240226G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.118369511G>A" "" "pathogenic" "" "0000804904" "0" "50" "11" "118245918" "118245918" "subst" "0.000309253" "01804" "UBE4A_000003" "g.118245918G>A" "" "" "" "UBE4A(NM_004788.3):c.1445G>A (p.(Arg482Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979373" "0" "30" "11" "118239336" "118239336" "subst" "0.000134254" "01804" "UBE4A_000004" "g.118239336T>C" "" "" "" "UBE4A(NM_001204077.2):c.122-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979374" "0" "30" "11" "118239528" "118239528" "subst" "0.000899529" "01804" "UBE4A_000005" "g.118239528C>A" "" "" "" "UBE4A(NM_001204077.2):c.295+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048365" "3" "90" "11" "118244273" "118244273" "del" "0" "04901" "UBE4A_000006" "g.118244273del" "" "" "" "" "variant absent in-house exome data of 400 unrelated, ethnically matched individuals" "Germline" "yes" "" "0" "" "" "g.118373558del" "" "pathogenic (recessive)" "ACMG" "0001048402" "3" "90" "11" "118244273" "118244273" "del" "0" "04901" "UBE4A_000006" "g.118244273del" "" "" "" "" "variant absent in-house exome data of 400 unrelated, ethnically matched individuals" "Germline" "yes" "" "0" "" "" "g.118373558del" "" "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 UBE4A ## Count = 9 "{{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}}" "0000349685" "00022271" "50" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Trp128Ter)" "" "0000763131" "00022271" "90" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Trp128*)" "" "0000804904" "00022271" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482Gln)" "" "0000979373" "00026012" "30" "122" "-10" "122" "-10" "c.122-10T>C" "r.(=)" "p.(=)" "" "0000979373" "00022271" "30" "122" "-10" "122" "-10" "c.122-10T>C" "r.(=)" "p.(=)" "" "0000979374" "00026012" "30" "295" "9" "295" "9" "c.295+9C>A" "r.(=)" "p.(=)" "" "0000979374" "00022271" "30" "295" "9" "295" "9" "c.295+9C>A" "r.(=)" "p.(=)" "" "0001048365" "00022271" "90" "1010" "0" "1010" "0" "c.1010del" "r.(1010del)" "p.(Leu337ArgfsTer3)" "" "0001048402" "00022271" "90" "1010" "0" "1010" "0" "c.1010del" "r.(1010del)" "p.(Leu337ArgfsTer3)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000362757" "0000763131" "0000468518" "0001048365" "0000468519" "0001048402"