### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATPAF2) # 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}}" "ATPAF2" "ATP synthase mitochondrial F1 complex assembly factor 2" "17" "p11.2" "unknown" "NC_000017.10" "UD_138303715618" "" "" "" "1" "1" "18802" "91647" "608918" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "00001" "2013-11-14 14:24:34" "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 = 2 "{{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}}" "00000547" "ATPAF2" "ATP synthase mitochondrial F1 complex assembly factor 2" "001" "NM_145691.3" "" "NP_663729.1" "" "" "" "-153" "1399" "870" "17942480" "17921334" "00001" "2013-11-12 21:31:20" "" "" "" "17" "00000548" "ATPAF2" "transcript variant X1" "002" "XM_005256848.1" "" "XP_005256905.1" "" "" "" "-156" "1035" "771" "17942483" "17924010" "00001" "2013-11-12 21:31:20" "" "" "" "17" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00023" "604273" "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)" "604273" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATPAF2" "00023" ## 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 = 19 "{{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}}" "0000000717" "0" "99" "17" "17931590" "17931590" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-02-08 12:59:09" "ATPAF2_000001" "g.17931590A>T" "" "{PMID:14757859:14757859}" "" "rs104894554" "subst" "0" "; clinVar; Ensembl;" "5.450" "" "" "" "" "MSCV_0000717" "" "0000018382" "0" "55" "17" "17921407" "17921407" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:00:36" "ATPAF2_000018" "g.17921407A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018382" "" "0000018383" "0" "55" "17" "17921485" "17921485" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:45:27" "ATPAF2_000004" "g.17921485T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018383" "" "0000018384" "0" "55" "17" "17921526" "17921526" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:04" "ATPAF2_000005" "g.17921526A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018384" "" "0000018385" "0" "55" "17" "17921669" "17921669" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:06" "ATPAF2_000006" "g.17921669G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018385" "" "0000018386" "0" "33" "17" "17921698" "17921698" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:08" "ATPAF2_000015" "g.17921698G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018386" "" "0000018387" "0" "55" "17" "17921731" "17921731" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:10" "ATPAF2_000016" "g.17921731G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018387" "" "0000018388" "0" "33" "17" "17921733" "17921733" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:12" "ATPAF2_000002" "g.17921733A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018388" "" "0000018389" "0" "33" "17" "17921995" "17921995" "subst" "35" "0.0239889" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:19:14" "ATPAF2_000017" "g.17921995C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018389" "" "0000018390" "0" "55" "17" "17924535" "17924535" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:29" "ATPAF2_000003" "g.17924535C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018390" "" "0000018391" "0" "55" "17" "17929666" "17929666" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:31" "ATPAF2_000007" "g.17929666G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018391" "" "0000018392" "0" "77" "17" "17929709" "17929709" "subst" "35" "0.000845763" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:33" "ATPAF2_000008" "g.17929709A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018392" "" "0000018393" "0" "99" "17" "17931590" "17931590" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:35" "ATPAF2_000001" "g.17931590A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000717" "" "0000018394" "0" "55" "17" "17931620" "17931620" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:37" "ATPAF2_000009" "g.17931620C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018394" "" "0000018395" "0" "55" "17" "17942288" "17942288" "subst" "51" "0.000616523" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-05 15:10:29" "ATPAF2_000010" "g.17942288G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018395" "" "0000018396" "0" "33" "17" "17942293" "17942293" "subst" "35" "0.00023116" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:42" "ATPAF2_000011" "g.17942293C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018396" "" "0000018397" "0" "55" "17" "17942328" "17942328" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:43" "ATPAF2_000012" "g.17942328C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018397" "" "0000018398" "0" "55" "17" "17942434" "17942434" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:45" "ATPAF2_000013" "g.17942434C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018398" "" "0000018399" "0" "33" "17" "17942474" "17942474" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-11-12 09:11:38" "ATPAF2_000014" "g.17942474C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0018399" "" ## 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 = 38 "{{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}}" "0000000717" "00000547" "99" "280" "0" "280" "0" "c.280T>A" "3/8" "p.(Trp94Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000717" "00000548" "99" "280" "0" "280" "0" "c.280T>A" "3/8" "p.(Trp94Arg)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000018382" "00000547" "00" "1326" "0" "1326" "0" "c.*456T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018382" "00000548" "00" "1035" "2603" "1035" "2603" "c.*2867T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018383" "00000547" "00" "1248" "0" "1248" "0" "c.*378A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018383" "00000548" "00" "1035" "2525" "1035" "2525" "c.*2789A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018384" "00000547" "00" "1207" "0" "1207" "0" "c.*337T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018384" "00000548" "00" "1035" "2484" "1035" "2484" "c.*2748T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018385" "00000547" "00" "1064" "0" "1064" "0" "c.*194C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018385" "00000548" "00" "1035" "2341" "1035" "2341" "c.*2605C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018386" "00000547" "00" "1035" "0" "1035" "0" "c.*165C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018386" "00000548" "00" "1035" "2312" "1035" "2312" "c.*2576C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018387" "00000547" "00" "1002" "0" "1002" "0" "c.*132C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018387" "00000548" "00" "1035" "2279" "1035" "2279" "c.*2543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018388" "00000547" "00" "1000" "0" "1000" "0" "c.*130T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018388" "00000548" "00" "1035" "2277" "1035" "2277" "c.*2541T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018389" "00000547" "00" "738" "0" "738" "0" "c.738G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018389" "00000548" "00" "1035" "2015" "1035" "2015" "c.*2279G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018390" "00000547" "00" "634" "0" "634" "0" "c.634G>T" "" "p.(Ala212Ser)" "r.(?)" "" "" "" "" "" "-" "0000018390" "00000548" "00" "634" "0" "634" "0" "c.634G>T" "" "p.(Ala212Ser)" "r.(?)" "" "" "" "" "" "-" "0000018391" "00000547" "00" "389" "0" "389" "0" "c.389C>A" "" "p.(Ala130Glu)" "r.(?)" "" "" "" "" "" "-" "0000018391" "00000548" "00" "389" "0" "389" "0" "c.389C>A" "" "p.(Ala130Glu)" "r.(?)" "" "" "" "" "" "-" "0000018392" "00000547" "00" "346" "0" "346" "0" "c.346T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018392" "00000548" "00" "346" "0" "346" "0" "c.346T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018393" "00000547" "00" "280" "0" "280" "0" "c.280T>A" "" "p.(Trp94Arg)" "r.(?)" "" "" "" "" "" "-" "0000018393" "00000548" "00" "280" "0" "280" "0" "c.280T>A" "" "p.(Trp94Arg)" "r.(?)" "" "" "" "" "" "-" "0000018394" "00000547" "00" "250" "0" "250" "0" "c.250G>A" "" "p.(Glu84Lys)" "r.(?)" "" "" "" "" "" "-" "0000018394" "00000548" "00" "250" "0" "250" "0" "c.250G>A" "" "p.(Glu84Lys)" "r.(?)" "" "" "" "" "" "-" "0000018395" "00000547" "00" "40" "0" "40" "0" "c.40C>G" "" "p.(Arg14Gly)" "r.(?)" "" "" "" "" "" "-" "0000018395" "00000548" "00" "40" "0" "40" "0" "c.40C>G" "" "p.(Arg14Gly)" "r.(?)" "" "" "" "" "" "-" "0000018396" "00000547" "00" "35" "0" "35" "0" "c.35G>A" "" "p.(Gly12Glu)" "r.(?)" "" "" "" "" "" "-" "0000018396" "00000548" "00" "35" "0" "35" "0" "c.35G>A" "" "p.(Gly12Glu)" "r.(?)" "" "" "" "" "" "-" "0000018397" "00000547" "00" "-1" "0" "-1" "0" "c.-1G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018397" "00000548" "00" "-1" "0" "-1" "0" "c.-1G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018398" "00000547" "00" "-107" "0" "-107" "0" "c.-107G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018398" "00000548" "00" "-107" "0" "-107" "0" "c.-107G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018399" "00000547" "00" "-147" "0" "-147" "0" "c.-147G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000018399" "00000548" "00" "-147" "0" "-147" "0" "c.-147G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0