### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ENPP1) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "ENPP1" "ectonucleotide pyrophosphatase/phosphodiesterase 1" "6" "q22-q23" "unknown" "NC_000006.11" "UD_132118453399" "" "" "" "1" "1" "3356" "5167" "173335" "1" "1" "1" "" "" "" "" "1" "MSeqDR Curation" "" "-1" "" "-1" "00000" "2013-11-26 22:11:53" "" "" "00000" "2013-11-26 22:11:53" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003141" "ENPP1" "ectonucleotide pyrophosphatase/phosphodiesterase 1" "001" "NM_006208.2" "" "NP_006199.2" "" "" "" "-20" "7422" "2778" "132129156" "132216295" "00000" "2013-11-26 22:11:53" "" "" "" "6" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00102" "NIDDM" "Diabetes mellitus, noninsulin-dependent, 125853 (3)" "125853" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" "00114" "601665" "Obesity, autosomal dominant, 601665 (3)" "601665" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ENPP1" "00102" "ENPP1" "00114" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 4 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001210" "0" "77" "6" "132172368" "132172368" "subst" "35" "0.350223" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-08-27 11:42:22" "ENPP1_000001" "g.132172368A>C" "" "{PMID:15001634:15001634};{PMID:16607460:16607460};{PMID:11739459:11739459};{PMID:14988267:14988267};{PMID:10480624:10480624};{PMID:14671192:14671192};{PMID:15126519:15126519};{PMID:16025115:16025115};{PMID:16968801:16968801}" "" "rs1044498" "subst" "0" "; clinVar; Ensembl;" "3.390" "" "" "" "" "MSCV_0001210" "" "0000001211" "0" "77" "6" "132212694" "132212694" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-12 09:28:30" "ENPP1_000002" "g.132212694A>G" "" "{PMID:14988267:14988267};{PMID:15677494:15677494}" "" "rs7754561" "subst" "0" "; clinvar;" "-3.080" "" "" "" "" "MSCV_0001211" "" "0000022163" "0" "11" "6" "132172368" "132172368" "subst" "35" "0.350223" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:34:16" "ENPP1_000001" "g.132172368A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001210" "" "0000022164" "0" "11" "6" "132212694" "132212694" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:41:05" "ENPP1_000002" "g.132212694A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001211" "" ## 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. ## Count = 4 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001210" "00003141" "77" "517" "0" "517" "0" "c.517A>C" "4/25" "p.(Lys173Gln)" "r.(?)" "benign(0.014)" "" "missense_variant" "" "" "tolerated(0.33)" "0000001211" "00003141" "77" "3821" "0" "3821" "0" "c.*1043A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022163" "00003141" "00" "517" "0" "517" "0" "c.517A>C" "" "p.(Lys173Gln)" "r.(?)" "" "" "" "" "" "-" "0000022164" "00003141" "00" "3821" "0" "3821" "0" "c.*1043A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0