### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EMP2) # 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}}" "EMP2" "epithelial membrane protein 2" "16" "p13.2" "unknown" "NC_000016.9" "UD_132439343782" "" "http://www.LOVD.nl/EMP2" "" "1" "3334" "2013" "602334" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/EMP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-06-19 10:37:42" "00000" "2023-07-07 10:10:56" ## 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}}" "00007083" "EMP2" "epithelial membrane protein 2" "001" "NM_001424.4" "" "NP_001415.1" "" "" "" "-194" "4987" "504" "10674539" "10622279" "" "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}}" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "04109" "NPHS10" "nephrotic syndrome, type 10" "AR" "615861" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EMP2" "00399" "EMP2" "04109" ## 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}}" "00016935" "" "" "" "2" "" "00705" "{PMID:Gee 2014:24814193}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "?" "yes" "Turkey" "" "0" "" "steroids, cyclophosphamide" "Turkish" "" "00016936" "" "" "" "1" "" "00705" "{PMID:Gee 2014:24814193}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "?" "no" "Turkey" "" "0" "" "" "Turkish" "" "00016937" "" "" "" "1" "" "00705" "{PMID:Gee 2014:24814193}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "?" "-" "United States" "" "0" "" "" "African American" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00016935" "00399" "00016936" "00399" "00016937" "00399" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00399, 04109 ## Count = 3 "{{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}}" "0000015301" "00399" "00016935" "00705" "Familial, autosomal recessive" "?" "Steroid Sensitive Nephrotic Syndrome (SSNS)" "" "" "" "" "" "" "" "" "" "0000015302" "00399" "00016936" "00705" "Familial, autosomal recessive" "?" "Steroid Sensitive Nephrotic Syndrome" "" "" "" "" "" "" "" "" "" "0000015303" "00399" "00016937" "00705" "Familial, autosomal recessive" "?" "Steroid Resistant Nephrotic Syndrome. 5y:renal histology exhibited minimal change disease, and electron microscopy showed diffusely effaced FPs of podocytes with microvillous changes" "" "" "" "" "" "" "" "" "" ## 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}}" "0000016909" "00016935" "1" "00705" "00705" "2014-06-08 10:35:35" "" "" "PCRm;SEQ;SEQ-NG" "DNA" "" "" "0000016910" "00016936" "1" "00705" "00705" "2014-06-08 10:49:21" "" "" "PCRm;SEQ;SEQ-NG" "DNA" "" "" "0000016911" "00016937" "1" "00705" "00705" "2014-06-08 11:06:26" "" "" "PCRm;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000016909" "EMP2" "0000016910" "EMP2" "0000016911" "EMP2" ## 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}}" "0000036861" "3" "70" "16" "10631917" "10631917" "subst" "4.06326E-6" "00705" "EMP2_000001" "g.10631917G>A" "" "{PMID:Gee 2014:24814193}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10538060G>A" "" "likely pathogenic" "" "0000036862" "21" "70" "16" "10641454" "10641454" "subst" "0" "00705" "EMP2_000003" "g.10641454G>C" "" "{PMID:Gee 2014:24814193}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10547597G>C" "" "likely pathogenic" "" "0000036863" "11" "70" "16" "10631917" "10631917" "subst" "4.06326E-6" "00705" "EMP2_000001" "g.10631917G>A" "" "{PMID:Gee 2014:24814193}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10538060G>A" "" "likely pathogenic" "" "0000036864" "3" "70" "16" "10641447" "10641447" "subst" "0.000109679" "00705" "EMP2_000002" "g.10641447C>T" "" "{PMID:Gee 2014:24814193}" "" "" "father not tested" "Germline" "yes" "" "0" "" "" "g.10547590C>T" "" "likely pathogenic" "" "0000854261" "0" "30" "16" "10626869" "10626869" "subst" "0.000142966" "02326" "EMP2_000004" "g.10626869C>T" "" "" "" "EMP2(NM_001424.6):c.397G>A (p.V133M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892492" "0" "30" "16" "10626864" "10626864" "subst" "0.00167846" "02326" "EMP2_000005" "g.10626864G>A" "" "" "" "EMP2(NM_001424.6):c.402C>T (p.T134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930491" "0" "30" "16" "10637445" "10637445" "subst" "0.00239574" "02326" "EMP2_000006" "g.10637445T>C" "" "" "" "EMP2(NM_001424.6):c.151A>G (p.I51V)" "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 EMP2 ## 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}}" "0000036861" "00007083" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "4" "0000036862" "00007083" "70" "21" "0" "21" "0" "c.21C>G" "r.(?)" "p.(Phe7Leu)" "2" "0000036863" "00007083" "70" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Gln62*)" "4" "0000036864" "00007083" "70" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "2" "0000854261" "00007083" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Val133Met)" "" "0000892492" "00007083" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Thr134=)" "" "0000930491" "00007083" "30" "151" "0" "151" "0" "c.151A>G" "r.(?)" "p.(Ile51Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000016909" "0000036861" "0000016910" "0000036862" "0000016910" "0000036863" "0000016911" "0000036864"