### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SFXN4) # 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}}" "SFXN4" "sideroflexin 4" "10" "q26.11" "unknown" "NC_000010.10" "UD_138313343955" "" "" "" "1" "1" "16088" "119559" "" "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 16:06:56" "" "" "" "" "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}}" "00002814" "SFXN4" "transcript variant X1" "001" "XM_005269525.1" "" "XP_005269582.1" "" "" "" "-62" "1316" "987" "120925221" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" "00002815" "SFXN4" "transcript variant X5" "002" "XR_246071.1" "" "" "" "" "" "1" "1499" "1499" "120925221" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" "00002816" "SFXN4" "transcript variant X4" "003" "XR_246070.1" "" "" "" "" "" "1" "1526" "1526" "120925221" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" "00002817" "SFXN4" "sideroflexin 4" "004" "NM_213649.1" "" "NP_998814.1" "" "" "" "-45" "1343" "1014" "120925204" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" "00002818" "SFXN4" "transcript variant X2" "005" "XM_005269526.1" "" "XP_005269583.1" "" "" "" "-599" "995" "666" "120925075" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" "00002819" "SFXN4" "transcript variant X3" "006" "XM_005269527.1" "" "XP_005269584.1" "" "" "" "-551" "995" "666" "120925054" "120900425" "00001" "2013-11-15 16:22:58" "" "" "" "10" ## 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}}" "00514" "615578" "Combined oxidative phosphorylation deficiency 18, 615578 (3)" "615578" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SFXN4" "00514" ## 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 = 8 "{{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}}" "0000000263" "0" "99" "10" "120907365" "120907366" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 00:59:41" "SFXN4_000003" "g.120907365_120907366insA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000263" "" "0000000264" "0" "55" "10" "120907365" "120907366" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 00:59:55" "SFXN4_000004" "g.120907365_120907366insT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000264" "" "0000000265" "0" "99" "10" "120917382" "120917382" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:00:28" "SFXN4_000002" "g.120917382C>T" "" "" "" "" "subst" "0" ";" "3.730" "" "" "" "" "MSCV_0000265" "" "0000000266" "0" "99" "10" "120921871" "120921871" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:00:01" "SFXN4_000001" "g.120921871del" "" "" "" "" "del" "0" ";" "-5.670" "" "" "" "" "MSCV_0000266" "" "0000016352" "0" "99" "10" "120907365" "120907366" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:00:19" "SFXN4_000004" "g.120907365_120907366insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000264" "" "0000016353" "0" "99" "10" "120917382" "120917382" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:00:24" "SFXN4_000002" "g.120917382C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000265" "" "0000016354" "0" "99" "10" "120917520" "120917520" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 00:59:58" "SFXN4_000005" "g.120917520C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016354" "" "0000016355" "0" "99" "10" "120921871" "120921871" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:00:15" "SFXN4_000001" "g.120921871del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000266" "" ## 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 = 48 "{{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}}" "0000000263" "00002814" "00" "713" "0" "712" "0" "c.712_713insT" "11/13" "p.(Arg238Metfs*19)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000263" "00002815" "00" "775" "0" "774" "0" "n.774_775insT" "" "" "" "" "" "" "" "" "-" "0000000263" "00002816" "00" "802" "0" "801" "0" "n.801_802insT" "" "" "" "" "" "" "" "" "-" "0000000263" "00002817" "00" "740" "0" "739" "0" "c.739_740insT" "12/14" "p.(Arg247Metfs*19)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000263" "00002818" "00" "392" "0" "391" "0" "c.391_392insT" "12/14" "p.(Arg131Metfs*19)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000263" "00002819" "00" "392" "0" "391" "0" "c.391_392insT" "12/14" "p.(Arg131Metfs*19)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000264" "00002814" "55" "713" "0" "712" "0" "c.712_713insA" "" "p.(Arg238Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000000264" "00002815" "55" "775" "0" "774" "0" "n.774_775insA" "" "" "" "" "" "" "" "" "-" "0000000264" "00002816" "55" "802" "0" "801" "0" "n.801_802insA" "" "" "" "" "" "" "" "" "-" "0000000264" "00002817" "55" "740" "0" "739" "0" "c.739_740insA" "" "p.(Arg247Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000000264" "00002818" "55" "392" "0" "391" "0" "c.391_392insA" "" "p.(Arg131Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000000264" "00002819" "55" "392" "0" "391" "0" "c.391_392insA" "" "p.(Arg131Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000000265" "00002814" "55" "444" "1" "444" "1" "c.444+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000265" "00002815" "55" "506" "1" "506" "1" "n.506+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000265" "00002816" "55" "533" "1" "533" "1" "n.533+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000265" "00002817" "55" "471" "1" "471" "1" "c.471+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000265" "00002818" "55" "123" "1" "123" "1" "c.123+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000265" "00002819" "55" "123" "1" "123" "1" "c.123+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000266" "00002814" "55" "233" "0" "233" "0" "c.233del" "" "p.(Pro78Leufs*17)" "r.(?)" "" "" "" "" "" "-" "0000000266" "00002815" "55" "295" "0" "295" "0" "n.295del" "" "" "" "" "" "" "" "" "-" "0000000266" "00002816" "55" "295" "0" "295" "0" "n.295del" "" "" "" "" "" "" "" "" "-" "0000000266" "00002817" "55" "233" "0" "233" "0" "c.233del" "" "p.(Pro78Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000000266" "00002818" "55" "-116" "0" "-116" "0" "c.-116del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000266" "00002819" "55" "-89" "0" "-89" "0" "c.-89del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016352" "00002814" "00" "712" "0" "713" "0" "c.712_713insA" "" "p.(Arg238Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000016352" "00002815" "00" "774" "0" "775" "0" "n.774_775insA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016352" "00002816" "00" "801" "0" "802" "0" "n.801_802insA" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016352" "00002817" "00" "739" "0" "740" "0" "c.739_740insA" "" "p.(Arg247Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000016352" "00002818" "00" "391" "0" "392" "0" "c.391_392insA" "" "p.(Arg131Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000016352" "00002819" "00" "391" "0" "392" "0" "c.391_392insA" "" "p.(Arg131Lysfs*19)" "r.(?)" "" "" "" "" "" "-" "0000016353" "00002814" "00" "444" "1" "444" "1" "c.444+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016353" "00002815" "00" "506" "1" "506" "1" "n.506+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016353" "00002816" "00" "533" "1" "533" "1" "n.533+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016353" "00002817" "00" "471" "1" "471" "1" "c.471+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016353" "00002818" "00" "123" "1" "123" "1" "c.123+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016353" "00002819" "00" "123" "1" "123" "1" "c.123+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002814" "00" "387" "1" "387" "1" "c.387+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002815" "00" "449" "1" "449" "1" "n.449+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002816" "00" "476" "1" "476" "1" "n.476+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002817" "00" "414" "1" "414" "1" "c.414+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002818" "00" "66" "1" "66" "1" "c.66+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016354" "00002819" "00" "66" "1" "66" "1" "c.66+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016355" "00002814" "00" "233" "0" "233" "0" "c.233del" "" "p.(Pro78Leufs*17)" "r.(?)" "" "" "" "" "" "-" "0000016355" "00002815" "00" "295" "0" "295" "0" "n.295del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016355" "00002816" "00" "295" "0" "295" "0" "n.295del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000016355" "00002817" "00" "233" "0" "233" "0" "c.233del" "" "p.(Pro78Leufs*26)" "r.(?)" "" "" "" "" "" "-" "0000016355" "00002818" "00" "-116" "0" "-116" "0" "c.-116del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016355" "00002819" "00" "-89" "0" "-89" "0" "c.-89del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0