### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTR9) # 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}}" "CTR9" "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" "11" "p15.3" "unknown" "NG_051671.1" "UD_132319432818" "" "https://www.LOVD.nl/CTR9" "" "1" "16850" "9646" "609366" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CTR9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-10 15:43:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00005859" "CTR9" "Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)" "001" "NM_014633.3" "" "NP_055448.1" "" "" "" "-149" "4160" "3522" "10772811" "10801290" "" "0000-00-00 00:00:00" "" "" ## 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}}" "05110" "WT" "Wilms tumor" "" "" "" "" "" "00006" "2016-01-10 03:49:29" "00006" "2016-03-20 12:15:43" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00132788" "" "" "" "3" "" "02305" "" "3-generation family, three carriers affected (1F, 2M), mother non-carrier/father unknown" "" "no" "Portugal" "" "0" "" "" "White" "" "00245761" "" "" "" "1" "" "01836" "" "" "M" "no" "" "" "0" "" "" "" "RM208" "00245766" "" "" "" "1" "" "01836" "" "" "F" "" "" "" "0" "" "" "" "RED" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00132788" "05110" "00245761" "05533" "00245766" "05533" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05110, 05533 ## Count = 1 "{{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}}" "0000105556" "05110" "00132788" "02305" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000133626" "00132788" "1" "02305" "02305" "2017-11-08 13:15:01" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "Peripheral blood leukocytes; Wilms tumor" "" "0000246873" "00245761" "1" "01836" "01836" "2019-07-08 10:30:56" "" "" "arraySEQ" "DNA" "" "" "0000246878" "00245766" "1" "01836" "01836" "2019-07-08 11:51:02" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000133626" "CTR9" "0000133626" "WT1" ## 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}}" "0000223076" "10" "70" "11" "10785188" "10785188" "subst" "0" "02305" "CTR9_000001" "g.10785188A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.10763641A>G" "" "likely pathogenic" "" "0000345440" "0" "50" "11" "10785975" "10785975" "subst" "0" "02327" "CTR9_000005" "g.10785975G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10764428G>A" "" "VUS" "" "0000499681" "0" "50" "11" "10800383" "10800383" "subst" "0" "01836" "CTR9_000006" "g.10800383T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.10778836T>G" "" "VUS" "" "0000499702" "0" "50" "11" "10774223" "10774223" "subst" "0" "01836" "CTR9_000007" "g.10774223T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.10752676T>C" "" "VUS" "" "0000612861" "0" "30" "11" "10789699" "10789699" "subst" "0" "01804" "CTR9_000008" "g.10789699A>G" "" "" "" "CTR9(NM_014633.3):c.1951A>G (p.(Asn651Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10768152A>G" "" "likely benign" "" "0000862122" "0" "50" "11" "10785358" "10785358" "subst" "0" "02329" "CTR9_000009" "g.10785358G>A" "" "" "" "CTR9(NM_014633.5):c.1126G>A (p.E376K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889387" "0" "90" "11" "10785427" "10785427" "subst" "0" "02327" "CTR9_000010" "g.10785427G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889388" "0" "10" "11" "10800284" "10800284" "subst" "0.00282791" "02326" "CTR9_000011" "g.10800284T>C" "" "" "" "CTR9(NM_014633.5):c.3154T>C (p.C1052R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889389" "0" "10" "11" "10800325" "10800325" "subst" "0.00186845" "02326" "CTR9_000012" "g.10800325G>A" "" "" "" "CTR9(NM_014633.5):c.3195G>A (p.K1065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925246" "0" "10" "11" "10794054" "10794054" "subst" "0.0178511" "02329" "CTR9_000013" "g.10794054T>C" "" "" "" "CTR9(NM_014633.5):c.2445-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979288" "0" "30" "11" "10791787" "10791787" "subst" "0.000134577" "01804" "CTR9_000014" "g.10791787C>T" "" "" "" "CTR9(NM_014633.5):c.2140C>T (p.(His714Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979290" "0" "50" "11" "10794683" "10794683" "subst" "4.83925E-5" "01804" "CTR9_000015" "g.10794683C>T" "" "" "" "CTR9(NM_014633.5):c.2590C>T (p.(Arg864Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998658" "0" "70" "11" "10774222" "10774222" "subst" "0" "01804" "CTR9_000016" "g.10774222A>T" "" "" "" "CTR9(NM_014633.3):c.49A>T (p.(Ile17Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998660" "0" "50" "11" "10795626" "10795626" "subst" "0" "02325" "CTR9_000017" "g.10795626C>T" "" "" "" "CTR9(NM_014633.5):c.2795C>T (p.S932F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025807" "0" "30" "11" "10777320" "10777320" "subst" "2.03714E-5" "02329" "CTR9_000018" "g.10777320A>G" "" "" "" "CTR9(NM_014633.5):c.480A>G (p.P160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038166" "0" "50" "11" "10800555" "10800555" "subst" "1.21934E-5" "01804" "CTR9_000019" "g.10800555G>C" "" "" "" "CTR9(NM_014633.5):c.3425G>C (p.(Gly1142Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053810" "0" "50" "11" "10781728" "10781728" "subst" "2.03615E-5" "01804" "CTR9_000020" "g.10781728C>T" "" "" "" "CTR9(NM_014633.5):c.601C>T (p.(Arg201Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053811" "0" "50" "11" "10800335" "10800335" "subst" "2.84331E-5" "01804" "CTR9_000021" "g.10800335G>A" "" "" "" "CTR9(NM_014633.5):c.3205G>A (p.(Glu1069Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053812" "0" "50" "11" "10800431" "10800431" "subst" "2.43797E-5" "01804" "CTR9_000022" "g.10800431C>A" "" "" "" "CTR9(NM_014633.5):c.3301C>A (p.(Gln1101Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053813" "0" "50" "11" "10800600" "10800600" "subst" "8.53471E-5" "01804" "CTR9_000023" "g.10800600A>C" "" "" "" "CTR9(NM_014633.5):c.3470A>C (p.(Asn1157Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053814" "0" "50" "11" "10800617" "10800617" "subst" "1.21956E-5" "01804" "CTR9_000024" "g.10800617A>G" "" "" "" "CTR9(NM_014633.5):c.3487A>G (p.(Arg1163Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CTR9 ## 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}}" "0000223076" "00005859" "70" "958" "-2" "958" "-2" "c.958-2A>G" "r.spl" "p.?" "8i" "0000345440" "00005859" "50" "1405" "0" "1405" "0" "c.1405G>A" "r.(?)" "p.(Glu469Lys)" "" "0000499681" "00005859" "50" "3253" "0" "3253" "0" "c.3253T>G" "r.(?)" "p.(Ser1085Ala)" "" "0000499702" "00005859" "50" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Ile17Thr)" "" "0000612861" "00005859" "30" "1951" "0" "1951" "0" "c.1951A>G" "r.(?)" "p.(Asn651Asp)" "" "0000862122" "00005859" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Glu376Lys)" "" "0000889387" "00005859" "90" "1194" "1" "1194" "1" "c.1194+1G>A" "r.spl?" "p.?" "" "0000889388" "00005859" "10" "3154" "0" "3154" "0" "c.3154T>C" "r.(?)" "p.(Cys1052Arg)" "" "0000889389" "00005859" "10" "3195" "0" "3195" "0" "c.3195G>A" "r.(?)" "p.(Lys1065=)" "" "0000925246" "00005859" "10" "2445" "-13" "2445" "-13" "c.2445-13T>C" "r.(=)" "p.(=)" "" "0000979288" "00005859" "30" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(His714Tyr)" "" "0000979290" "00005859" "50" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Arg864Cys)" "" "0000998658" "00005859" "70" "49" "0" "49" "0" "c.49A>T" "r.(?)" "p.(Ile17Phe)" "" "0000998660" "00005859" "50" "2795" "0" "2795" "0" "c.2795C>T" "r.(?)" "p.(Ser932Phe)" "" "0001025807" "00005859" "30" "480" "0" "480" "0" "c.480A>G" "r.(?)" "p.(=)" "" "0001038166" "00005859" "50" "3425" "0" "3425" "0" "c.3425G>C" "r.(?)" "p.(Gly1142Ala)" "" "0001053810" "00005859" "50" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "" "0001053811" "00005859" "50" "3205" "0" "3205" "0" "c.3205G>A" "r.(?)" "p.(Glu1069Lys)" "" "0001053812" "00005859" "50" "3301" "0" "3301" "0" "c.3301C>A" "r.(?)" "p.(Gln1101Lys)" "" "0001053813" "00005859" "50" "3470" "0" "3470" "0" "c.3470A>C" "r.(?)" "p.(Asn1157Thr)" "" "0001053814" "00005859" "50" "3487" "0" "3487" "0" "c.3487A>G" "r.(?)" "p.(Arg1163Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000133626" "0000223076" "0000246873" "0000499681" "0000246878" "0000499702"