### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DIABLO) # 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}}" "DIABLO" "diablo, IAP-binding mitochondrial protein" "12" "q24.31" "unknown" "NC_000012.11" "UD_138455036942" "" "" "" "1" "1" "21528" "56616" "605219" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 15:07:22" "" "" "" "" "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 = 6 "{{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}}" "00001827" "DIABLO" "transcript variant 1" "001" "NM_019887.5" "" "NP_063940.1" "" "" "" "-818" "1439" "720" "122712081" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" "00001828" "DIABLO" "transcript variant 6" "002" "NM_001278303.1" "" "NP_001265232.1" "" "" "" "-640" "1220" "501" "122711115" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" "00001829" "DIABLO" "transcript variant 3" "003" "NM_001278342.1" "" "NP_001265271.1" "" "" "" "-554" "1307" "588" "122711115" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" "00001830" "DIABLO" "transcript variant 5" "004" "NM_001278302.1" "" "NP_001265231.1" "" "" "" "-684" "1148" "429" "122711115" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" "00001831" "DIABLO" "transcript variant 2" "005" "NM_138930.3" "" "NP_620308.1" "" "" "" "-684" "1280" "561" "122711115" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" "00001832" "DIABLO" "transcript variant 7" "006" "NM_001278304.1" "" "NP_001265233.1" "" "" "" "-1182" "1280" "561" "122710397" "122692209" "00001" "2013-11-15 15:19:43" "" "" "" "12" ## 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