### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UCP2) # 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}}" "UCP2" "uncoupling protein 2 (mitochondrial, proton carrier)" "11" "q13" "unknown" "NG_011478.1" "UD_132118724126" "" "https://www.LOVD.nl/UCP2" "" "1" "12518" "7351" "601693" "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/UCP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-19 12:48:47" "00000" "2025-05-05 21:14:00" ## 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}}" "00022323" "UCP2" "uncoupling protein 2 (mitochondrial, proton carrier)" "001" "NM_003355.2" "" "NP_003346.2" "" "" "" "-380" "1266" "930" "73693889" "73685716" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01966" "HHF1" "hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)" "AD;AR" "256450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02655" "BMIQ4" "body mass index quantitative trait locus 4 (BMIQ-4)" "" "607447" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "UCP2" "02655" ## 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}}" "00100348" "" "" "" "1" "" "01905" "" "" "M" "" "India" "" "0" "" "Diazoxide" "" "" "00441601" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4825" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00100348" "01966" "00441601" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01966, 02655 ## 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}}" "0000078607" "01966" "00100348" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000100752" "00100348" "1" "01905" "01905" "2017-02-13 15:48:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000443087" "00441601" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000100752" "UCP2" ## 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}}" "0000163118" "0" "50" "11" "73686146" "73686146" "subst" "0.000106244" "01905" "UCP2_000001" "g.73686146C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.73975101C>T" "" "VUS" "" "0000322413" "0" "50" "11" "73686548" "73686548" "subst" "0.000689469" "01804" "UCP2_000002" "g.73686548G>C" "" "" "" "UCP2(NM_003355.2):c.803C>G (p.(Ala268Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73975503G>C" "" "VUS" "" "0000322414" "0" "50" "11" "73689041" "73689041" "subst" "0.000686623" "01804" "UCP2_000003" "g.73689041C>T" "" "" "" "UCP2(NM_003355.2):c.227G>A (p.(Arg76Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73977996C>T" "" "VUS" "" "0000944446" "0" "90" "11" "73686147" "73686147" "subst" "3.27378E-5" "00006" "UCP2_000004" "g.73686147G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.73975102G>A" "" "VUS" "" "0001026078" "0" "50" "11" "73686552" "73686552" "subst" "5.30028E-5" "02325" "DNAJB13_000006" "g.73686552G>A" "" "" "" "UCP2(NM_003355.3):c.799C>T (p.R267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038772" "0" "50" "11" "73688930" "73688930" "subst" "8.1279E-6" "01804" "UCP2_000005" "g.73688930C>T" "" "" "" "UCP2(NM_003355.3):c.337+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038773" "0" "50" "11" "73689371" "73689371" "subst" "8.1211E-6" "01804" "UCP2_000006" "g.73689371A>G" "" "" "" "UCP2(NM_003355.3):c.53T>C (p.(Leu18Pro))" "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 UCP2 ## 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}}" "0000163118" "00022323" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "8" "0000322413" "00022323" "50" "803" "0" "803" "0" "c.803C>G" "r.(?)" "p.(Ala268Gly)" "" "0000322414" "00022323" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76Gln)" "" "0000944446" "00022323" "90" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "0001026078" "00022323" "50" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Arg267*)" "" "0001038772" "00022323" "50" "337" "1" "337" "1" "c.337+1G>A" "r.spl?" "p.?" "" "0001038773" "00022323" "50" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Leu18Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000100752" "0000163118" "0000443087" "0000944446"