### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCUBE1) # 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}}" "SCUBE1" "signal peptide, CUB domain, EGF-like 1" "22" "q13" "unknown" "NG_029056.1" "UD_132368593081" "" "https://www.LOVD.nl/SCUBE1" "" "1" "13441" "80274" "611746" "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/SCUBE1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-05-27 14:42:38" "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}}" "00018547" "SCUBE1" "signal peptide, CUB domain, EGF-like 1" "001" "NM_173050.3" "" "NP_766638.2" "" "" "" "-127" "3741" "2967" "43739394" "43599229" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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}}" "00164361" "" "" "" "1" "" "00719" "Jansen, submitted" "" "M" "" "" "" "0" "" "" "" "Jansen et al. Patient 23" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00164361" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139 ## 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}}" "0000129466" "00139" "00164361" "00719" "Isolated (sporadic)" "" "ASD (HP:0000729); borderline intellectual disability (HP:0006889)" "" "" "" "" "" "" "" "" "" ## 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}}" "0000165228" "00164361" "1" "00719" "00719" "2018-05-15 10:29:35" "" "" "SEQ-NG" "DNA" "" "" ## 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 = 8 "{{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}}" "0000368883" "0" "50" "22" "43607047" "43607047" "subst" "4.0854E-6" "00719" "SCUBE1_000001" "g.43607047C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.43211041C>T" "" "VUS" "" "0000624321" "0" "30" "22" "43739218" "43739218" "subst" "0" "01943" "SCUBE1_000002" "g.43739218C>A" "" "" "" "SCUBE1(NM_173050.3):c.50G>T (p.G17V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43343212C>A" "" "likely benign" "" "0000693209" "0" "50" "22" "43618669" "43618669" "subst" "9.41366E-5" "01943" "SCUBE1_000003" "g.43618669G>C" "" "" "" "SCUBE1(NM_173050.3):c.1407C>G (p.S469R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728199" "0" "50" "22" "43603589" "43603589" "subst" "0" "01943" "SCUBE1_000004" "g.43603589A>G" "" "" "" "SCUBE1(NM_173050.3):c.2765T>C (p.V922A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006201" "0" "30" "22" "43619184" "43619184" "subst" "0" "01804" "SCUBE1_000005" "g.43619184G>A" "" "" "" "SCUBE1(NM_173050.3):c.1246C>T (p.(Arg416Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006202" "0" "30" "22" "43623395" "43623395" "subst" "2.09002E-5" "01804" "SCUBE1_000006" "g.43623395C>T" "" "" "" "SCUBE1(NM_173050.3):c.1192G>A (p.(Gly398Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057208" "0" "50" "22" "43610212" "43610212" "subst" "0" "01804" "SCUBE1_000007" "g.43610212C>T" "" "" "" "SCUBE1(NM_173050.5):c.1937G>A (p.(Cys646Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057209" "0" "50" "22" "43617229" "43617229" "subst" "0.0003885" "01804" "SCUBE1_000008" "g.43617229C>T" "" "" "" "SCUBE1(NM_173050.5):c.1499G>A (p.(Arg500Gln))" "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 SCUBE1 ## Count = 8 "{{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}}" "0000368883" "00018547" "50" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755His)" "" "0000624321" "00018547" "30" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Gly17Val)" "" "0000693209" "00018547" "50" "1407" "0" "1407" "0" "c.1407C>G" "r.(?)" "p.(Ser469Arg)" "" "0000728199" "00018547" "50" "2765" "0" "2765" "0" "c.2765T>C" "r.(?)" "p.(Val922Ala)" "" "0001006201" "00018547" "30" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Arg416Trp)" "" "0001006202" "00018547" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Gly398Arg)" "" "0001057208" "00018547" "50" "1937" "0" "1937" "0" "c.1937G>A" "r.(?)" "p.(Cys646Tyr)" "" "0001057209" "00018547" "50" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Arg500Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000165228" "0000368883"