### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CUL1) # 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}}" "CUL1" "cullin 1" "7" "q36.1" "unknown" "NG_065171.1" "UD_136022127990" "" "https://www.LOVD.nl/CUL1" "" "1" "2551" "8454" "603134" "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/CUL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-06 15:37:29" "00006" "2023-08-05 19:44:39" ## 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}}" "00005892" "CUL1" "cullin 1" "001" "NM_003592.2" "" "NP_003583.2" "" "" "" "-350" "2859" "2331" "148395933" "148498202" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00081832" "" "" "" "1" "" "01794" "" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00296454" "" "" "" "1" "" "00006" "{PMID:Imagawa 2017:28229514}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Fam1PatII1" "00435602" "" "" "" "1" "" "00006" "{PMID:Niggl 2023:37541189}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00438627" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0104" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00296454" "00198" "00435602" "05611" "00438627" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 06906 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000223865" "00198" "00296454" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "IMMAS" "Weaver syndrome" "" "0000325787" "05611" "00435602" "00006" "Isolated (sporadic)" "7y" "see paper; ..., severe intra-uterine growth retardation, small placenta, thin cord, birth 36+6w; no speech; not walking; non-verbal; moderate-severe intellectual disability; delayed gross motor skills; delayed fine motor skills; absence seizures, generalized convulsions; hypotonia; no movement disorder; MRI multiple dysmorphisms cerebrum and cerebellum, delayed myelination (now normal), periventricul cysts, hypoplastic ICA; happy demeanor; obstructive sleep apnea; brachycephaly, head asymmetry, broad forehead, triangular face shape, broad nasal bridge, telecanthus, hypertelorism, downslanted palpebral fissures, bilateral ptosis, high palate, microretrognathia s/p distraction , dysmorphic ears , mottled appearance of skull with widened diplotic space (acquired) , undulate clavicles , pectus excavatum, 11 pairs of ribs; intermittent exotropia, mild myopia, low vision; moderate conductive hearing impairment, stenosis of external auditory canal; GER dysphagia, G-tube, constipation; no recurrent infections; atrial septal defect; PFO, aortic root dilatation, pyloric stenosis, paraesophageal hernia, bilateral cryptorchidism, micropenis; laryngomalacia; tracheobronchomalacia; asthma; growth hormone deficiency" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000328530" "06906" "00438627" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081966" "00081832" "1" "01794" "01794" "2016-10-26 14:58:12" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "" "0000297564" "00296454" "1" "00006" "00006" "2020-04-06 15:30:21" "00006" "2020-04-06 15:36:24" "SEQ;SEQ-NG" "DNA" "" "" "0000437083" "00435602" "1" "00006" "00006" "2023-08-05 19:25:13" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WGS trio, RNA-seq" "0000440109" "00438627" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000297564" "CUL1" "0000297564" "EZH2" ## 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 = 5 "{{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}}" "0000134737" "0" "70" "7" "148480099" "148505516" "del" "0" "01794" "EZH2_000088" "g.148480099_148505516del" "" "" "" "" "25.42 kb deletion of exon 20 of EZH2 and part of CUL1" "De novo" "" "" "0" "" "" "g.148783007_148808424del" "" "likely pathogenic" "" "0000256166" "0" "50" "7" "148464770" "148464770" "subst" "0" "01943" "CUL1_000001" "g.148464770A>C" "" "" "" "CUL1(NM_003592.3):c.1012A>C (p.K338Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148767678A>C" "" "VUS" "" "0000660168" "0" "90" "7" "148480100" "148505516" "del" "0" "00006" "EZH2_000111" "g.148480100_148505516del" "" "{PMID:Imagawa 2017:28229514}" "" "" "" "De novo" "" "" "0" "" "" "g.148783008_148808424del" "" "pathogenic (dominant)" "" "0000931851" "0" "50" "7" "148494946" "148494946" "subst" "0" "00006" "CUL1_000002" "g.148494946C>G" "" "{PMID:Niggl 2023:37541189}" "" "" "" "De novo" "" "" "0" "" "" "g.148797854C>G" "" "VUS" "" "0000936267" "0" "50" "7" "148463680" "148463680" "subst" "0" "00006" "CUL1_000003" "g.148463680C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_003592:c.C817T (R273X.)" "" "De novo" "" "" "0" "" "" "" "" "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 CUL1 ## Count = 5 "{{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}}" "0000134737" "00005892" "70" "1084" "-776" "10173" "0" "c.1084-776_*7842del" "r.?" "p.?" "" "0000256166" "00005892" "50" "1012" "0" "1012" "0" "c.1012A>C" "r.(?)" "p.(Lys338Gln)" "" "0000660168" "00005892" "70" "0" "0" "0" "0" "c.1084-775_*528[0]" "r.?" "p.?" "9i_22_" "0000931851" "00005892" "50" "1942" "0" "1942" "0" "c.1942C>G" "r.(?)" "p.(Leu648Val)" "" "0000936267" "00005892" "50" "817" "0" "817" "0" "c.817C>T" "r.(?)" "p.(Arg273*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000081966" "0000134737" "0000297564" "0000660168" "0000437083" "0000931851" "0000440109" "0000936267"