### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNF113A) # 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}}" "RNF113A" "ring finger protein 113A" "X" "q25-q26" "unknown" "NG_021227.1" "UD_132118378953" "" "https://www.LOVD.nl/RNF113A" "" "1" "12974" "7737" "300951" "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/RNF113A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2019-08-06 19:10:41" "00000" "2024-08-28 13:16:32" ## 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}}" "00017890" "RNF113A" "ring finger protein 113A" "001" "NM_006978.2" "" "NP_008909.1" "" "" "" "-215" "1082" "1032" "119005791" "119004495" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "00748" "TTD" "trichothiodystrophy (TTD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-09-10 12:13:45" "04326" "TTD5" "trichothiodystrophy, type 5, nonphotosensitive (TTD-5)" "XLD" "300953" "" "X-linked dominant" "" "00006" "2015-09-10 12:08:58" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RNF113A" "04326" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00172669" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00248177" "" "" "" "1" "" "03367" "" "" "F" "" "Russia" ">27y" "0" "" "" "" "" "00248388" "" "" "" "2" "" "03367" "" "" "" "" "Russia" "" "0" "" "" "" "" "00248391" "" "" "" "1" "" "03367" "" "" "" "" "Russia" "<00y00m" "0" "" "" "" "" "00260763" "" "" "" "1" "" "00006" "{PMID:Corbett 2015:25612912}" "5-generation family, 2 affected nephews (2M), unaffected heterozygous carrier females" "M" "no" "Australia" "" "0" "" "" "" "FamPatIV2/IV5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00172669" "00187" "00248177" "04326" "00248388" "04326" "00248391" "04326" "00260763" "00748" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00748, 04326 ## Count = 3 "{{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}}" "0000137533" "00187" "00172669" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000187186" "04326" "00248177" "03367" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "" "0000199295" "00748" "00260763" "00006" "Familial, X-linked" "" "see paper; ..., severe trichothiodystrophy, intrauterine growth restriction, progressive microcephaly, profound intellectual disability, genital anomalies (absent or rudimentary testes with microphallus), severe linear growth failure (normal growth hormone production): all 3 obligate carriers short stature" "" "" "" "" "" "" "" "" "TTD-5" "trichothiodystrophy" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000173552" "00172669" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000249282" "00248177" "1" "03367" "03367" "2019-07-19 15:59:12" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000249493" "00248388" "1" "03367" "03367" "2019-07-23 11:06:30" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000249496" "00248391" "1" "03367" "03367" "2019-07-23 12:00:55" "" "" "SEQ-NG-I" "DNA" "paraffin blocks" "WES" "0000261868" "00260763" "1" "00006" "00006" "2019-08-06 19:18:52" "" "" "SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000173552" "CA5B" "0000261868" "RNF113A" ## 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 = 26 "{{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}}" "0000299939" "0" "30" "X" "119005968" "119005968" "subst" "0.0056815" "02326" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119872005G>C" "" "likely benign" "" "0000335337" "0" "30" "X" "119004814" "119004814" "subst" "0.000687923" "01804" "RNF113A_000001" "g.119004814C>T" "" "" "" "RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119870851C>T" "" "likely benign" "" "0000393411" "1" "50" "X" "119004571" "119004571" "subst" "0.00811607" "00124" "RNF113A_000003" "g.119004571C>T" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.119870608C>T" "" "VUS" "" "0000573226" "0" "30" "X" "119004571" "119004571" "subst" "0.00811607" "01804" "RNF113A_000003" "g.119004571C>T" "" "" "" "RNF113A(NM_006978.2):c.1006G>A (p.(Asp336Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870608C>T" "" "likely benign" "" "0000573227" "0" "30" "X" "119004814" "119004814" "subst" "0.000687923" "01943" "RNF113A_000001" "g.119004814C>T" "" "" "" "RNF113A(NM_006978.2):c.763G>A (p.D255N, p.(Asp255Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870851C>T" "" "likely benign" "" "0000573228" "0" "30" "X" "119004842" "119004842" "subst" "0.000123096" "01943" "NDUFA1_000006" "g.119004842C>A" "" "" "" "RNF113A(NM_006978.2):c.735G>T (p.E245D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119870879C>A" "" "likely benign" "" "0000573229" "0" "30" "X" "119005963" "119005963" "subst" "0.000117617" "01943" "NDUFA1_000007" "g.119005963C>G" "" "" "" "NDUFA1(NM_004541.3):c.89C>G (p.T30S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119872000C>G" "" "likely benign" "" "0000573230" "0" "30" "X" "119005968" "119005968" "subst" "0.0056815" "02325" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119872005G>C" "" "likely benign" "" "0000578030" "0" "50" "X" "119004921" "119004921" "subst" "0" "03367" "RNF113A_000004" "g.119004921A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.119870958A>T" "" "VUS" "" "0000578277" "0" "50" "X" "119004921" "119004921" "subst" "0" "03367" "RNF113A_000004" "g.119004921A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.119870958A>T" "" "VUS" "" "0000578279" "21" "50" "X" "119004921" "119004921" "subst" "0" "03367" "RNF113A_000004" "g.119004921A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.119870958A>T" "" "VUS" "" "0000591984" "21" "90" "X" "119004676" "119004676" "subst" "0" "00006" "RNF113A_000005" "g.119004676G>A" "" "{PMID:Corbett 2015:25612912}" "" "" "mRNA 2-fold increased (lymphoblastoid cell lines; Western blot truncated RNF113A expressed at reduced level" "Germline" "yes" "" "0" "females 100% X-inactivation" "" "g.119870713G>A" "" "pathogenic" "" "0000624397" "0" "30" "X" "119004980" "119004980" "subst" "0" "01943" "NDUFA1_000008" "g.119004980G>C" "" "" "" "RNF113A(NM_006978.2):c.597C>G (p.P199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871017G>C" "" "likely benign" "" "0000624398" "0" "50" "X" "119005316" "119005321" "del" "0" "02325" "NDUFA1_000009" "g.119005316_119005321del" "" "" "" "RNF113A(NM_006978.3):c.265_270delGAGGAA (p.E89_E90del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871353_119871358del" "" "VUS" "" "0000624399" "0" "50" "X" "119007340" "119007340" "subst" "1.11866E-5" "01943" "NDUFA1_000010" "g.119007340G>A" "" "" "" "NDUFA1(NM_004541.3):c.176G>A (p.R59H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119873377G>A" "" "VUS" "" "0000659060" "0" "50" "X" "119005366" "119005366" "subst" "0" "01943" "RNF113A_000002" "g.119005366G>A" "" "" "" "RNF113A(NM_006978.2):c.211C>T (p.R71C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119871403G>A" "" "VUS" "" "0000682051" "0" "10" "X" "119005968" "119005968" "subst" "0.0056815" "01804" "NDUFA1_000003" "g.119005968G>C" "" "" "" "NDUFA1(NM_004541.3):c.94G>C (p.(Gly32Arg)), NDUFA1(NM_004541.4):c.94G>C (p.G32R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000728366" "0" "30" "X" "119005313" "119005313" "subst" "0.000173773" "01943" "NDUFA1_000012" "g.119005313T>C" "" "" "" "RNF113A(NM_006978.2):c.264A>G (p.E88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809821" "0" "30" "X" "119005069" "119005069" "subst" "5.60083E-6" "01943" "NDUFA1_000014" "g.119005069T>C" "" "" "" "RNF113A(NM_006978.2):c.508A>G (p.M170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809822" "0" "30" "X" "119007305" "119007305" "subst" "0.0022596" "01943" "NDUFA1_000005" "g.119007305G>C" "" "" "" "NDUFA1(NM_004541.3):c.141G>C (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856302" "0" "30" "X" "119004722" "119004722" "subst" "1.11849E-5" "01943" "NDUFA1_000015" "g.119004722A>G" "" "" "" "RNF113A(NM_006978.2):c.855T>C (p.C285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856303" "0" "50" "X" "119005335" "119005337" "del" "0" "02325" "NDUFA1_000017" "g.119005335_119005337del" "" "" "" "RNF113A(NM_006978.3):c.242_244delGCG (p.G81del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867005" "0" "30" "X" "119004731" "119004731" "subst" "0" "01943" "NDUFA1_000016" "g.119004731G>A" "" "" "" "RNF113A(NM_006978.2):c.846C>T (p.C282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927247" "0" "50" "X" "119004787" "119004787" "subst" "0" "02327" "NDUFA1_000018" "g.119004787T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951668" "0" "50" "X" "119005501" "119005501" "subst" "0" "02325" "NDUFA1_000019" "g.119005501C>T" "" "" "" "RNF113A(NM_006978.3):c.76G>A (p.G26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006383" "0" "30" "X" "119005448" "119005448" "subst" "0" "01804" "NDUFA1_000020" "g.119005448G>C" "" "" "" "RNF113A(NM_006978.2):c.129C>G (p.(Ser43Arg))" "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 RNF113A ## Count = 26 "{{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}}" "0000299939" "00017890" "30" "-392" "0" "-392" "0" "c.-392C>G" "r.(?)" "p.(=)" "" "0000335337" "00017890" "30" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Asp255Asn)" "" "0000393411" "00017890" "50" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Asp336Asn)" "" "0000573226" "00017890" "30" "1006" "0" "1006" "0" "c.1006G>A" "r.(?)" "p.(Asp336Asn)" "" "0000573227" "00017890" "30" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Asp255Asn)" "" "0000573228" "00017890" "30" "735" "0" "735" "0" "c.735G>T" "r.(?)" "p.(Glu245Asp)" "" "0000573229" "00017890" "30" "-387" "0" "-387" "0" "c.-387G>C" "r.(?)" "p.(=)" "" "0000573230" "00017890" "30" "-392" "0" "-392" "0" "c.-392C>G" "r.(?)" "p.(=)" "" "0000578030" "00017890" "50" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Phe219Tyr)" "1" "0000578277" "00017890" "50" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Phe219Tyr)" "1" "0000578279" "00017890" "50" "656" "0" "656" "0" "c.656T>A" "r.(?)" "p.(Phe219Tyr)" "1" "0000591984" "00017890" "90" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Gln301*)" "" "0000624397" "00017890" "30" "597" "0" "597" "0" "c.597C>G" "r.(?)" "p.(Pro199=)" "" "0000624398" "00017890" "50" "265" "0" "270" "0" "c.265_270del" "r.(?)" "p.(Glu89_Glu90del)" "" "0000624399" "00017890" "50" "-1764" "0" "-1764" "0" "c.-1764C>T" "r.(?)" "p.(=)" "" "0000659060" "00017890" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Cys)" "" "0000682051" "00017890" "10" "-392" "0" "-392" "0" "c.-392C>G" "r.(?)" "p.(=)" "" "0000728366" "00017890" "30" "264" "0" "264" "0" "c.264A>G" "r.(?)" "p.(Glu88=)" "" "0000809821" "00017890" "30" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Met170Val)" "" "0000809822" "00017890" "30" "-1729" "0" "-1729" "0" "c.-1729C>G" "r.(?)" "p.(=)" "" "0000856302" "00017890" "30" "855" "0" "855" "0" "c.855T>C" "r.(?)" "p.(Cys285=)" "" "0000856303" "00017890" "50" "242" "0" "244" "0" "c.242_244del" "r.(?)" "p.(Gly81del)" "" "0000867005" "00017890" "30" "846" "0" "846" "0" "c.846C>T" "r.(?)" "p.(Cys282=)" "" "0000927247" "00017890" "50" "790" "0" "790" "0" "c.790A>T" "r.(?)" "p.(Ile264Phe)" "" "0000951668" "00017890" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Gly26Arg)" "" "0001006383" "00017890" "30" "129" "0" "129" "0" "c.129C>G" "r.(?)" "p.(Ser43Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000173552" "0000393411" "0000249282" "0000578030" "0000249493" "0000578277" "0000249496" "0000578279" "0000261868" "0000591984"