### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPIPB5) # 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}}" "NPIPB5" "nuclear pore complex interacting protein family member B5" "16" "p12.2" "unknown" "NC_000016.9" "UD_145626863903" "" "https://www.LOVD.nl/NPIPB5" "" "1" "37233" "100132247" "" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2020-08-23 15:40:58" "00000" "2024-08-28 13:16:32" ## 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}}" "00024933" "NPIPB5" "nuclear pore complex interacting protein family, member B5" "004" "NM_001135865.1" "" "NP_001129337.1" "" "" "" "-279" "3538" "3402" "22524844" "22547842" "00000" "2017-08-08 16:35:45" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01029" "KTCN" "keratoconus (KTCN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 12:41:56" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00050458" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00307915" "" "" "" "1" "" "03594" "" "" "" "" "" "" "" "" "" "" "KC010" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050458" "00198" "00307915" "01029" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01029 ## Count = 2 "{{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}}" "0000037070" "00198" "00050458" "00006" "Isolated (sporadic)" "" "microcephaly, intrauterine growth retardation, global developmental delay, abnormal size of the palpebral fissures, prominent nose, short 4th metacarpal, clinodactyly of the 5th finger, cutaneous syndactyly of toes, aggressive behavior" "" "" "" "" "" "" "" "" "" "" "" "0000233333" "01029" "00307915" "03594" "Familial, autosomal recessive" "" "Keratoconus" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050403" "00050458" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000309059" "00307915" "1" "03594" "03594" "2020-08-22 16:26:03" "" "" "SEQ-NG-I" "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 = 7 "{{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}}" "0000079383" "0" "90" "16" "21530207" "29332245" "del" "0" "00006" "CLN3_000009" "g.21530207_29332245del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.21518886_29320924del" "" "pathogenic" "" "0000557504" "0" "30" "16" "22545325" "22545325" "subst" "1.74911E-5" "01943" "NPIPB5_000001" "g.22545325A>T" "" "" "" "NPIPB5(NM_001135865.1):c.1021A>T (p.T341S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22534004A>T" "" "likely benign" "" "0000557505" "0" "30" "16" "22546398" "22546398" "subst" "0" "01943" "NPIPB5_000002" "g.22546398C>T" "" "" "" "NPIPB5(NM_001135865.1):c.2094C>T (p.C698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22535077C>T" "" "likely benign" "" "0000557506" "0" "10" "16" "22546505" "22546505" "subst" "0" "01943" "NPIPB5_000003" "g.22546505G>T" "" "" "" "NPIPB5(NM_001135865.1):c.2201G>T (p.R734I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.22535184G>T" "" "benign" "" "0000683517" "0" "70" "16" "22545657" "22545657" "subst" "0" "03594" "NPIPB5_000004" "g.22545657G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0001002085" "0" "30" "16" "22545038" "22545038" "subst" "0" "01804" "NPIPB5_000005" "g.22545038A>G" "" "" "" "NPIPB5(NM_001135865.1):c.734A>G (p.(His245Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002086" "0" "30" "16" "22545127" "22545127" "subst" "0" "01804" "NPIPB5_000006" "g.22545127C>A" "" "" "" "NPIPB5(NM_001135865.1):c.823C>A (p.(Pro275Thr))" "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 NPIPB5 ## Count = 7 "{{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}}" "0000079383" "00024933" "00" "-994916" "0" "6787941" "0" "c.-994916_*6784539del" "r.0?" "p.0?" "" "0000557504" "00024933" "30" "1021" "0" "1021" "0" "c.1021A>T" "r.(?)" "p.(Thr341Ser)" "" "0000557505" "00024933" "30" "2094" "0" "2094" "0" "c.2094C>T" "r.(?)" "p.(Cys698=)" "" "0000557506" "00024933" "10" "2201" "0" "2201" "0" "c.2201G>T" "r.(?)" "p.(Arg734Ile)" "" "0000683517" "00024933" "70" "1353" "0" "1353" "0" "c.1353G>T" "r.(?)" "p.(Lys451Asn)" "" "0001002085" "00024933" "30" "734" "0" "734" "0" "c.734A>G" "r.(?)" "p.(His245Arg)" "" "0001002086" "00024933" "30" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Pro275Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050403" "0000079383" "0000309059" "0000683517"