### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP7B) # 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}}" "ATP7B" "ATPase, Cu++ transporting, beta polypeptide" "13" "q14.3" "unknown" "NC_000013.10" "UD_138431344996" "" "" "" "1" "1" "870" "540" "606882" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00000527" "ATP7B" "transcript variant X8" "001" "XM_005266430.1" "" "XP_005266487.1" "" "" "" "-80" "6485" "4398" "52586181" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000528" "ATP7B" "transcript variant X6" "002" "XM_005266428.1" "" "XP_005266485.1" "" "" "" "-219" "6233" "4146" "52585692" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000529" "ATP7B" "transcript variant X13" "003" "XR_245388.1" "" "" "" "" "" "1" "5732" "5732" "52585692" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000530" "ATP7B" "transcript variant 3" "004" "NM_001243182.1" "" "NP_001230111.1" "" "" "" "-157" "6152" "4065" "52585630" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000531" "ATP7B" "transcript variant 2" "005" "NM_001005918.2" "" "NP_001005918.1" "" "" "" "-157" "5864" "3777" "52585630" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000532" "ATP7B" "transcript variant 1" "006" "NM_000053.3" "" "NP_000044.2" "" "" "" "-157" "6485" "4398" "52585630" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000533" "ATP7B" "transcript variant X9" "007" "XM_005266431.1" "" "XP_005266488.1" "" "" "" "-2" "6449" "4362" "52569466" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000534" "ATP7B" "transcript variant X2" "008" "XM_005266424.1" "" "XP_005266481.1" "" "" "" "-50" "6389" "4302" "52552960" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000535" "ATP7B" "transcript variant X1" "009" "XM_005266423.1" "" "XP_005266480.1" "" "" "" "-51" "6389" "4302" "52551547" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000536" "ATP7B" "transcript variant X12" "010" "XM_005266434.1" "" "XP_005266491.1" "" "" "" "-43" "4769" "2682" "52544661" "52506805" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000537" "ATP7B" "transcript variant X11" "011" "XM_005266433.1" "" "XP_005266490.1" "" "" "" "-219" "3563" "3108" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000538" "ATP7B" "transcript variant X10" "012" "XM_005266432.1" "" "XP_005266489.1" "" "" "" "-219" "4367" "3912" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000539" "ATP7B" "transcript variant X5" "013" "XM_005266427.1" "" "XP_005266484.1" "" "" "" "-219" "4619" "4164" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000540" "ATP7B" "transcript variant X3" "014" "XM_005266425.1" "" "XP_005266482.1" "" "" "" "-219" "4709" "4254" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000541" "ATP7B" "transcript variant X7" "015" "XM_005266429.1" "" "XP_005266486.1" "" "" "" "-219" "4523" "4068" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" "00000542" "ATP7B" "transcript variant X4" "016" "XM_005266426.1" "" "XP_005266483.1" "" "" "" "-219" "4658" "4203" "52585692" "52508437" "00001" "2013-11-12 21:31:12" "" "" "" "13" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 0 ## 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 = 0 ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0