### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CPE) # 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}}" "CPE" "carboxypeptidase E" "4" "q32.3" "no" "NC_000004.11" "UD_132612593328" "" "https://www.LOVD.nl/CPE" "" "1" "2303" "1363" "114855" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CPE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-27 16:02:10" "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}}" "00005595" "CPE" "carboxypeptidase E" "001" "NM_001873.2" "" "NP_001864.1" "" "" "" "-277" "2151" "1431" "166300097" "166419482" "" "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}}" "06895" "BDVS" "Blakemore-Durmaz-Vasileiou syndrome" "AR" "619326" "" "" "" "00006" "2022-01-27 15:31:01" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CPE" "06895" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00377103" "" "" "" "1" "" "02267" "{PMID:Alsters 2015:26120850}" "2-generation family, 1 affected, unaffected heterozygous carrier mother/sibs" "F" "yes" "Sudan" "" "0" "" "" "" "Individual A-1" "00377105" "" "" "" "3" "" "02267" "{PMID:Durmaz 2021:32936766}" "5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Individual B-1" "00377106" "" "" "" "2" "" "02267" "{PMID:Bosch 2021:34383079}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Syria" "" "0" "" "" "" "Individual C-1" "00377108" "" "" "" "1" "" "02267" "{PMID:Bosch 2021:34383079}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "Individual E-1" "00401001" "" "" "" "1" "" "02267" "{PMID:Bosch 2021:34383079}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "Individual D-1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00377103" "06895" "00377105" "06895" "00377106" "06895" "00377108" "06895" "00401001" "06895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06895 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000294040" "06895" "00377105" "02267" "Familial, autosomal recessive" "15y" "Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, motor delay HP:0001270, Delayed speech and language development HP:0000750, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Low hanging columella HP:0009765, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347" "" "" "" "" "" "" "BDVS" "Intellectual disability and obesity" "0000294041" "06895" "00377106" "02267" "Familial, autosomal recessive" "15y" "Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Hypogonadotropic hypogonadism HP:0000044, Cryptorchidism HP:0000028, Hypogenitalism HP:0003241, Hypothyroidism HP:0000821, Enuresis HP:0000805, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Synophrys HP:0000664, Hypertelorism HP:0000316, Periorbital fullness HP:0000629, Epicanthus HP:0000286, Short palpebral fissures HP:0012745, wide nasal bridge \r\nHP:0000431, Low hanging columella HP:0009765, Cupid bow upper lip HP:0002263, Thin upper lip vermilion HP:0000219, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Brachydactyly HP:0001156, Hypoplastic fingernails HP:0001804, Hypoplastic toenails HP:0001792, Fingernail dystrophy HP:0008404, Pes planus HP:0001763" "" "" "" "" "" "" "BDVS" "Intellectual disability and obesity" "0000294042" "06895" "00377108" "02267" "Familial, autosomal recessive" "15y" "Infantile hypotonia HP:0008947, Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Motor delay HP:0001270, Delayed speech and language development HP:0000750, Behavioral abnormality HP:0000708, Brain imaging abnormality HP:0410263, Hypothyroidism HP:0000821, Insulin resistance HP:0000855, Enuresis HP:0000805, Macrocephaly HP:0000256, Coarse facial features HP:0000280, Oval face HP:0000300, Low anterior hairline HP:0000294, Periorbital fullness HP:0000629, narrow palpebral fissures HP:0045025, Low hanging columella HP:0009765, short philtrum HP:0000322, Cupid bow upper lip HP:0002263, Everted lower lip vermilion HP:0000232, Micrognathia HP:0000347, Tapering fingers HP:0001182, Pes planus HP:0001763 and \r\n\'vetricular septal defect, \'intermittent exotropia, \r\nhepatic steatosis, esophageal varices, acanthosis nigricans, obstructive sleep apnea,\r\n hypertrichosis, pes valgus" "" "" "" "" "" "" "BDVS" "Blakemore-Durmaz-Vasileiou syndrome" "0000294043" "06895" "00377103" "02267" "Familial, autosomal recessive" "20y" "Obesity HP:0001513, Hyperphagia HP:0002591, Intellectual disability HP:0001249, Delayed speech and language development \r\nHP:0000750, Hypogonadotropic hypogonadism HP:0000044, Amenorrhea HP:0000141, Diabetes mellitus HP:0000819, Coarse facial features HP:0000280, short philtrum HP:0000322" "" "" "" "" "" "" "BDVS" "Intellectual disability and obesity" "0000294044" "06895" "00401001" "02267" "Familial, autosomal recessive" "15y" "see paper; ..." "" "" "" "" "" "" "BDVS" "Intellectual disability and obesity" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000378307" "00377103" "1" "02267" "02267" "2021-07-04 17:47:55" "" "" "SEQ-NG" "DNA" "blood" "" "0000378309" "00377105" "1" "02267" "02267" "2021-07-04 18:57:38" "" "" "SEQ-NG" "DNA" "blood" "" "0000378310" "00377106" "1" "02267" "02267" "2021-07-04 19:22:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000378311" "00377108" "1" "02267" "02267" "2021-07-04 19:44:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000402245" "00401001" "1" "02267" "02267" "2021-07-04 19:22:59" "" "" "SEQ-NG" "DNA" "blood" "" ## 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 = 24 "{{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}}" "0000719809" "0" "10" "4" "166300379" "166300379" "subst" "0" "02330" "CPE_000001" "g.166300379C>A" "" "" "" "CPE(NM_001873.4):c.6C>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719810" "0" "10" "4" "166300427" "166300427" "subst" "0" "02330" "CPE_000002" "g.166300427C>G" "" "" "" "CPE(NM_001873.4):c.54C>G (p.A18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719811" "0" "30" "4" "166300469" "166300469" "subst" "0" "02330" "CPE_000003" "g.166300469G>T" "" "" "" "CPE(NM_001873.4):c.96G>T (p.A32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719812" "0" "10" "4" "166300553" "166300553" "subst" "2.16869E-5" "02330" "CPE_000004" "g.166300553C>T" "" "" "" "CPE(NM_001873.4):c.180C>T (p.R60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719813" "0" "30" "4" "166300588" "166300588" "subst" "0.00160216" "02330" "CPE_000005" "g.166300588C>T" "" "" "" "CPE(NM_001873.4):c.215C>T (p.A72V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719814" "0" "30" "4" "166300693" "166300693" "subst" "0.000112426" "02330" "CPE_000006" "g.166300693C>T" "" "" "" "CPE(NM_001873.4):c.307+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719815" "0" "30" "4" "166300695" "166300695" "subst" "0.000136085" "02330" "CPE_000007" "g.166300695C>T" "" "" "" "CPE(NM_001873.4):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719816" "0" "30" "4" "166385651" "166385651" "subst" "1.62809E-5" "02330" "CPE_000008" "g.166385651C>T" "" "" "" "CPE(NM_001873.4):c.417C>T (p.N139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719817" "0" "10" "4" "166388837" "166388837" "del" "0" "02330" "CPE_000009" "g.166388837del" "" "" "" "CPE(NM_001873.4):c.505-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719818" "0" "10" "4" "166388837" "166388837" "dup" "0" "02330" "CPE_000010" "g.166388837dup" "" "" "" "CPE(NM_001873.4):c.505-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719819" "0" "10" "4" "166403417" "166403417" "subst" "0.000675533" "02330" "CPE_000011" "g.166403417C>A" "" "" "" "CPE(NM_001873.4):c.696C>A (p.V232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719820" "0" "30" "4" "166418725" "166418725" "subst" "0.000586404" "02330" "CPE_000012" "g.166418725A>G" "" "" "" "CPE(NM_001873.4):c.1394A>G (p.E465G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000791022" "3" "90" "4" "166300449" "166300471" "del" "0" "02267" "CPE_000013" "g.166300449_166300471del" "" "{PMID:Alsters 2015:26120850}" "" "76_98del (E26RfsX68)" "" "Germline" "" "" "0" "" "" "g.165379297_165379319del" "689401" "pathogenic (recessive)" "ACMG" "0000791023" "3" "90" "4" "166385639" "166385639" "subst" "0" "02267" "CPE_000015" "g.166385639C>A" "" "{PMID:Durmaz 2021:32936766}" "" "" "" "Germline" "yes" "" "0" "" "" "g.165464487C>A" "1096917" "pathogenic (recessive)" "ACMG" "0000791024" "3" "90" "4" "166385595" "166385595" "subst" "4.07727E-6" "02267" "CPE_000014" "g.166385595C>T" "" "{PMID:Bosch 2021:34383079}" "" "" "" "Germline" "yes" "" "0" "" "" "g.165464443C>T" "" "pathogenic (recessive)" "ACMG" "0000791025" "3" "90" "4" "166408610" "166408610" "del" "0" "02267" "CPE_000016" "g.166408610del" "" "{PMID:Bosch 2021:34383079}" "" "" "" "Germline" "" "" "0" "" "" "g.165487458del" "" "pathogenic (recessive)" "ACMG" "0000801569" "0" "30" "4" "166403465" "166403465" "subst" "0.000162718" "02330" "CPE_000017" "g.166403465T>C" "" "" "" "CPE(NM_001873.4):c.744T>C (p.H248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000836216" "3" "90" "4" "166385595" "166385595" "subst" "4.07727E-6" "02267" "CPE_000014" "g.166385595C>T" "" "{PMID:Bosch 2021:34383079}" "" "" "" "Germline" "yes" "" "0" "" "" "g.165464443C>T" "" "pathogenic (recessive)" "ACMG" "0000850567" "0" "30" "4" "166414386" "166414386" "subst" "0.000711024" "02330" "CPE_000018" "g.166414386A>G" "" "" "" "CPE(NM_001873.4):c.1177A>G (p.I393V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850568" "0" "30" "4" "166414415" "166414415" "subst" "0" "02330" "CPE_000019" "g.166414415T>G" "" "" "" "CPE(NM_001873.4):c.1206T>G (p.V402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948284" "0" "50" "4" "166416806" "166416806" "subst" "0.000570009" "02325" "CPE_000020" "g.166416806G>A" "" "" "" "CPE(NM_001873.4):c.1309G>A (p.V437I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963063" "0" "30" "4" "166300676" "166300676" "subst" "0.000186778" "02330" "CPE_000021" "g.166300676G>A" "" "" "" "CPE(NM_001873.4):c.303G>A (p.E101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976195" "0" "30" "4" "166418717" "166418717" "subst" "0.000422136" "02330" "CPE_000022" "g.166418717A>G" "" "" "" "CPE(NM_001873.4):c.1386A>G (p.E462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051871" "0" "50" "4" "166385575" "166385575" "subst" "0" "01804" "CPE_000023" "g.166385575A>T" "" "" "" "CPE(NM_001873.4):c.341A>T (p.(His114Leu))" "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 CPE ## Count = 24 "{{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}}" "0000719809" "00005595" "10" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Ala2=)" "" "0000719810" "00005595" "10" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Ala18=)" "" "0000719811" "00005595" "30" "96" "0" "96" "0" "c.96G>T" "r.(?)" "p.(Ala32=)" "" "0000719812" "00005595" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Arg60=)" "" "0000719813" "00005595" "30" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Ala72Val)" "" "0000719814" "00005595" "30" "307" "13" "307" "13" "c.307+13C>T" "r.(=)" "p.(=)" "" "0000719815" "00005595" "30" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000719816" "00005595" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Asn139=)" "" "0000719817" "00005595" "10" "505" "-3" "505" "-3" "c.505-3del" "r.spl?" "p.?" "" "0000719818" "00005595" "10" "505" "-3" "505" "-3" "c.505-3dup" "r.spl?" "p.?" "" "0000719819" "00005595" "10" "696" "0" "696" "0" "c.696C>A" "r.(?)" "p.(Val232=)" "" "0000719820" "00005595" "30" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Glu465Gly)" "" "0000791022" "00005595" "90" "76" "0" "98" "0" "c.76_98del" "r.(?)" "p.(Glu26Argfs*68)" "1" "0000791023" "00005595" "90" "405" "0" "405" "0" "c.405C>A" "r.(?)" "p.(Tyr135*)" "" "0000791024" "00005595" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" "" "0000791025" "00005595" "90" "994" "0" "994" "0" "c.994del" "r.(?)" "p.(Ser333Alafs*22)" "" "0000801569" "00005595" "30" "744" "0" "744" "0" "c.744T>C" "r.(?)" "p.(His248=)" "" "0000836216" "00005595" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121*)" "" "0000850567" "00005595" "30" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Ile393Val)" "" "0000850568" "00005595" "30" "1206" "0" "1206" "0" "c.1206T>G" "r.(?)" "p.(Val402=)" "" "0000948284" "00005595" "50" "1309" "0" "1309" "0" "c.1309G>A" "r.(?)" "p.(Val437Ile)" "" "0000963063" "00005595" "30" "303" "0" "303" "0" "c.303G>A" "r.(?)" "p.(=)" "" "0000976195" "00005595" "30" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(=)" "" "0001051871" "00005595" "50" "341" "0" "341" "0" "c.341A>T" "r.(?)" "p.(His114Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000378307" "0000791022" "0000378309" "0000791023" "0000378310" "0000791024" "0000378311" "0000791025" "0000402245" "0000836216"