### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHUK) # 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}}" "CHUK" "conserved helix-loop-helix ubiquitous kinase" "10" "q24-q25" "unknown" "NC_000010.10" "UD_132118409165" "" "https://www.LOVD.nl/CHUK" "" "1" "1974" "1147" "600664" "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" "2025-02-06 15:49:26" "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}}" "00005176" "CHUK" "conserved helix-loop-helix ubiquitous kinase" "001" "NM_001278.3" "" "NP_001269.3" "" "" "" "-55" "3469" "2238" "101989344" "101948124" "" "0000-00-00 00:00:00" "" "" ## 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" "00753" "BPS" "Bartsocas-Papas syndrome" "AR" "" "" "orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits; nails; (oligodontia)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 15:44:51" "00945" "Cocoon" "fetal encasement syndrome" "AR" "613630" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-06 15:41:22" "07150" "BPS2" "Popliteal pterygium syndrome, Bartsocas-Papas, type 2" "AR" "619339" "" "" "" "00006" "2025-02-06 15:42:22" "00006" "2025-02-06 15:47:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CHUK" "00139" "CHUK" "00945" "CHUK" "07150" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00462247" "" "" "" "1" "" "00006" "{PMID:Leslie 2015:25691407}" "2-generation family, 1 affected, unaffected heterozygous carrier first degree cousin parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "BPS3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00462247" "00753" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00753, 00945, 07150 ## 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}}" "0000349747" "00753" "00462247" "00006" "Familial, autosomal recessive" "" "see paper; ..., orofacial clefting; pterygia; ankyloblepharon; oral synechia; syndactyly; genital hypoplasia; sparse hair; no lip pits" "" "" "" "" "" "" "" "BPS2" "Bartsocas-Papas syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000463879" "00462247" "1" "00006" "00006" "2025-02-06 16:00:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 12 "{{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}}" "0000266812" "0" "10" "10" "101977883" "101977883" "subst" "0.472618" "02325" "CHUK_000002" "g.101977883C>T" "" "" "" "CHUK(NM_001278.5):c.802G>A (p.V268I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100218126C>T" "" "benign" "" "0000538863" "0" "30" "10" "101980355" "101980355" "subst" "0.0118942" "01804" "CHUK_000003" "g.101980355A>G" "" "" "" "CHUK(NM_001278.3):c.464T>C (p.(Val155Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100220598A>G" "" "likely benign" "" "0000690627" "0" "50" "10" "101950680" "101950680" "subst" "0" "01943" "CHUK_000007" "g.101950680G>A" "" "" "" "CHUK(NM_001320928.1):c.2137C>T (p.P713S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722634" "0" "30" "10" "101960418" "101960418" "subst" "0.000498851" "01943" "CHUK_000008" "g.101960418G>A" "" "" "" "CHUK(NM_001278.4):c.1679+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722635" "0" "30" "10" "101964847" "101964847" "subst" "0.00287142" "01943" "CHUK_000009" "g.101964847T>C" "" "" "" "CHUK(NM_001278.4):c.1341A>G (p.G447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804259" "0" "50" "10" "101960537" "101960537" "subst" "0" "01943" "CHUK_000010" "g.101960537C>A" "" "" "" "CHUK(NM_001278.4):c.1570G>T (p.V524F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925096" "0" "30" "10" "101969562" "101969562" "subst" "8.94743E-6" "02326" "CHUK_000011" "g.101969562A>C" "" "" "" "CHUK(NM_001278.5):c.934-16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925097" "0" "30" "10" "101989172" "101989172" "subst" "0.00127199" "02326" "CHUK_000012" "g.101989172C>T" "" "" "" "CHUK(NM_001278.5):c.105+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949330" "0" "30" "10" "101989173" "101989173" "subst" "0.00128894" "02326" "CHUK_000013" "g.101989173G>A" "" "" "" "CHUK(NM_001278.5):c.105+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978855" "0" "30" "10" "101950734" "101950734" "subst" "4.06157E-6" "01804" "CHUK_000014" "g.101950734T>C" "" "" "" "CHUK(NM_001278.5):c.2109-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001023936" "3" "90" "10" "101969548" "101969548" "subst" "0" "00006" "CHUK_000015" "g.101969548T>C" "" "{PMID:Leslie 2015:25691407}" "" "" "" "Germline" "" "" "0" "" "" "g.100209791T>C" "" "pathogenic (recessive)" "" "0001037671" "0" "30" "10" "101961839" "101961839" "subst" "0.000166718" "01804" "CHUK_000016" "g.101961839T>G" "" "" "" "CHUK(NM_001278.5):c.1569+6A>C" "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 CHUK ## Count = 12 "{{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}}" "0000266812" "00005176" "10" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Val268Ile)" "" "0000538863" "00005176" "30" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Val155Ala)" "" "0000690627" "00005176" "50" "2154" "0" "2154" "0" "c.2154C>T" "r.(?)" "p.(Gly718=)" "" "0000722634" "00005176" "30" "1679" "10" "1679" "10" "c.1679+10C>T" "r.(=)" "p.(=)" "" "0000722635" "00005176" "30" "1341" "0" "1341" "0" "c.1341A>G" "r.(?)" "p.(Gly447=)" "" "0000804259" "00005176" "50" "1570" "0" "1570" "0" "c.1570G>T" "r.(?)" "p.(Val524Phe)" "" "0000925096" "00005176" "30" "934" "-16" "934" "-16" "c.934-16T>G" "r.(=)" "p.(=)" "" "0000925097" "00005176" "30" "105" "13" "105" "13" "c.105+13G>A" "r.(=)" "p.(=)" "" "0000949330" "00005176" "30" "105" "12" "105" "12" "c.105+12C>T" "r.(=)" "p.(=)" "" "0000978855" "00005176" "30" "2109" "-9" "2109" "-9" "c.2109-9A>G" "r.(=)" "p.(=)" "" "0001023936" "00005176" "90" "934" "-2" "934" "-2" "c.934-2A>G" "r.spl" "p.?" "" "0001037671" "00005176" "30" "1569" "6" "1569" "6" "c.1569+6A>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000463879" "0001023936"