### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PJA1) # 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}}" "PJA1" "praja ring finger 1, E3 ubiquitin protein ligase" "X" "q13.1" "unknown" "NG_021258.1" "UD_132118356497" "" "https://www.LOVD.nl/PJA1" "" "1" "16648" "64219" "300420" "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/PJA1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2018-08-17 18:07:11" "00000" "2025-05-05 21:14:00" ## 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}}" "00025316" "PJA1" "transcript variant 3" "002" "NM_022368.4" "" "NP_071763.2" "" "" "" "-379" "1937" "1368" "68385365" "68380581" "00006" "2018-08-17 18:06:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "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 = 7 "{{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" "" "" "" "" "00173332" "" "" "" "38" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173333" "" "" "" "10" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173496" "" "" "" "43" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173502" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173651" "" "" "" "24" "" "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 = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173332" "00187" "00173333" "00187" "00173496" "00187" "00173502" "00187" "00173651" "00187" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157 ## Count = 7 "{{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" "" "" "" "" "" "" "" "0000138196" "00187" "00173332" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138197" "00187" "00173333" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138360" "00187" "00173496" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138366" "00187" "00173502" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138515" "00187" "00173651" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{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" "" "" "0000174215" "00173332" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174216" "00173333" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174379" "00173496" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000174385" "00173502" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174534" "00173651" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000174215" "PLS3" "0000174216" "PLS3" "0000174379" "CSF2RA" "0000174385" "CPXCR1" "0000174534" "SRPX" ## 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 = 21 "{{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}}" "0000007049" "20" "50" "X" "68381912" "68381912" "subst" "0.194431" "00037" "PJA1_000001" "g.68381912G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69162069G>A" "" "VUS" "" "0000009137" "20" "50" "X" "68381912" "68381912" "subst" "0.194431" "00037" "PJA1_000001" "g.68381912G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.69162069G>A" "" "VUS" "" "0000334487" "0" "30" "X" "68381797" "68381797" "subst" "0.00737889" "01804" "PJA1_000002" "g.68381797C>T" "" "" "" "PJA1(NM_001032396.2):c.1120G>A (p.(Ala374Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69161954C>T" "" "likely benign" "" "0000334488" "0" "50" "X" "68382773" "68382773" "subst" "0.00010631" "01804" "PJA1_000003" "g.68382773C>G" "" "" "" "PJA1(NM_001032396.2):c.144G>C (p.(Glu48Asp)), PJA1(NM_145119.3):c.309G>C (p.E103D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69162930C>G" "" "VUS" "" "0000334489" "0" "50" "X" "68382835" "68382835" "subst" "7.2781E-5" "01804" "PJA1_000004" "g.68382835C>T" "" "" "" "PJA1(NM_001032396.2):c.82G>A (p.(Glu28Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69162992C>T" "" "VUS" "" "0000401412" "1" "30" "X" "68382836" "68382836" "subst" "0.164887" "00124" "PJA1_000008" "g.68382836G>A" "38/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S82S" "recurrent, found 38 times" "Germline" "" "" "0" "" "" "g.69162993G>A" "" "likely benign" "" "0000401413" "1" "30" "X" "68381912" "68381912" "subst" "0.194431" "00124" "PJA1_000001" "g.68381912G>A" "10/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G202G" "recurrent, found 10 times" "Germline" "" "" "0" "" "" "g.69162069G>A" "" "likely benign" "" "0000401414" "1" "50" "X" "68381264" "68381264" "subst" "0.159713" "00124" "PJA1_000006" "g.68381264C>A" "43/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E418D" "recurrent, found 43 times" "Germline" "" "" "0" "" "" "g.69161421C>A" "" "VUS" "" "0000401415" "1" "50" "X" "68381165" "68381165" "subst" "0.00392095" "00124" "PJA1_000005" "g.68381165G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "F451L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.69161322G>C" "" "VUS" "" "0000401416" "1" "50" "X" "68381787" "68381787" "subst" "0.165141" "00124" "PJA1_000007" "g.68381787C>T" "24/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S244N" "recurrent, found 24 times" "Germline" "" "" "0" "" "" "g.69161944C>T" "" "VUS" "" "0000577084" "0" "30" "X" "68381165" "68381165" "subst" "0.00392095" "01804" "PJA1_000005" "g.68381165G>C" "" "" "" "PJA1(NM_001032396.2):c.1752C>G (p.(Phe584Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69161322G>C" "" "likely benign" "" "0000577085" "0" "30" "X" "68381614" "68381614" "subst" "0.00044744" "01943" "PJA1_000009" "g.68381614T>C" "" "" "" "PJA1(NM_145119.3):c.1468A>G (p.M490V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69161771T>C" "" "likely benign" "" "0000577088" "0" "30" "X" "68382773" "68382773" "subst" "0.00010631" "01943" "PJA1_000003" "g.68382773C>G" "" "" "" "PJA1(NM_001032396.2):c.144G>C (p.(Glu48Asp)), PJA1(NM_145119.3):c.309G>C (p.E103D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69162930C>G" "" "likely benign" "" "0000729126" "0" "30" "X" "68382036" "68382036" "subst" "2.24149E-5" "01943" "PJA1_000011" "g.68382036T>C" "" "" "" "PJA1(NM_145119.3):c.1046A>G (p.D349G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810600" "0" "30" "X" "68382674" "68382674" "subst" "0.000151343" "01943" "PJA1_000012" "g.68382674T>C" "" "" "" "PJA1(NM_145119.3):c.408A>G (p.R136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810601" "0" "30" "X" "68382925" "68382925" "subst" "2.23811E-5" "01943" "PJA1_000013" "g.68382925C>T" "" "" "" "PJA1(NM_145119.3):c.157G>A (p.E53K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856739" "0" "50" "X" "68382657" "68382657" "subst" "5.60736E-6" "01943" "PJA1_000014" "g.68382657T>A" "" "" "" "PJA1(NM_145119.3):c.425A>T (p.K142I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931452" "0" "50" "X" "68382973" "68382973" "del" "0" "02325" "PJA1_000015" "g.68382973del" "" "" "" "PJA1(NM_145119.4):c.111delC (p.T38Rfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016052" "0" "50" "X" "68381281" "68381281" "subst" "0" "02325" "PJA1_000016" "g.68381281C>T" "" "" "" "PJA1(NM_145119.4):c.1801G>A (p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027524" "0" "50" "X" "68382900" "68382900" "subst" "5.60083E-6" "02325" "PJA1_000017" "g.68382900G>A" "" "" "" "PJA1(NM_145119.4):c.182C>T (p.P61L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044460" "0" "30" "X" "68381356" "68381356" "subst" "0.000173578" "01804" "PJA1_000018" "g.68381356C>T" "" "" "" "PJA1(NM_001032396.4):c.1561G>A (p.(Ala521Thr))" "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 PJA1 ## Count = 21 "{{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}}" "0000007049" "00025316" "00" "606" "0" "606" "0" "c.606C>T" "r.(=)" "p.(=)" "" "0000009137" "00025316" "00" "606" "0" "606" "0" "c.606C>T" "r.(=)" "p.(=)" "" "0000334487" "00025316" "30" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Ala241Thr)" "" "0000334488" "00025316" "50" "293" "16" "293" "16" "c.293+16G>C" "r.(=)" "p.(=)" "" "0000334489" "00025316" "50" "247" "0" "247" "0" "c.247G>A" "r.(?)" "p.(Glu83Lys)" "" "0000401412" "00025316" "30" "246" "0" "246" "0" "c.246C>T" "r.(?)" "p.(=)" "" "0000401413" "00025316" "30" "606" "0" "606" "0" "c.606C>T" "r.(?)" "p.(=)" "" "0000401414" "00025316" "50" "1254" "0" "1254" "0" "c.1254G>T" "r.(?)" "p.(Glu418Asp)" "" "0000401415" "00025316" "50" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(Phe451Leu)" "" "0000401416" "00025316" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Ser244Asn)" "" "0000577084" "00025316" "30" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(Phe451Leu)" "" "0000577085" "00025316" "30" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Met302Val)" "" "0000577088" "00025316" "30" "293" "16" "293" "16" "c.293+16G>C" "r.(=)" "p.(=)" "" "0000729126" "00025316" "30" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Asp161Gly)" "" "0000810600" "00025316" "30" "293" "115" "293" "115" "c.293+115A>G" "r.(=)" "p.(=)" "" "0000810601" "00025316" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "" "0000856739" "00025316" "50" "293" "132" "293" "132" "c.293+132A>T" "r.(=)" "p.(=)" "" "0000931452" "00025316" "50" "111" "0" "111" "0" "c.111del" "r.(?)" "p.(Thr38Argfs*52)" "" "0001016052" "00025316" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Glu413Lys)" "" "0001027524" "00025316" "50" "182" "0" "182" "0" "c.182C>T" "r.(?)" "p.(Pro61Leu)" "" "0001044460" "00025316" "30" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Ala388Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007049" "0000000210" "0000009137" "0000174215" "0000401412" "0000174216" "0000401413" "0000174379" "0000401414" "0000174385" "0000401415" "0000174534" "0000401416"