### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNPLA8) # 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}}" "PNPLA8" "patatin like phospholipase domain containing 8" "7" "q31" "unknown" "NC_000007.13" "UD_144431581219" "" "" "" "1" "1" "28900" "50640" "612123" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2016-05-13 22:08:57" "" "" "" "" "" ## Transcripts ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00004214" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 2" "005" "NM_001256007.1" "" "NP_001242936.1" "" "" "" "-419" "4328" "2349" "108526318" "108470422" "00001" "2016-05-13 12:10:00" "" "" "" "" "00004215" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 3" "004" "NM_001256008.1" "" "NP_001242937.1" "" "" "" "-373" "4328" "2349" "108526318" "108470422" "00001" "2016-05-13 12:10:00" "" "" "" "" "00004216" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 4" "003" "NM_001256009.1" "" "NP_001242938.1" "" "" "" "-373" "4142" "2163" "108526318" "108470422" "00001" "2016-05-13 12:10:00" "" "" "" "" "00004217" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 5" "002" "NM_001256010.1" "" "NP_001242939.1" "" "" "" "-546" "4028" "2049" "108526318" "108470422" "00001" "2016-05-13 12:10:00" "" "" "" "" "00004218" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 6" "001" "NM_001256011.1" "" "NP_001242940.1" "" "" "" "-407" "4028" "2049" "108528161" "108470422" "00001" "2016-05-13 12:10:00" "" "" "" "" "00004219" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant 1" "006" "NM_015723.3" "" "NP_056538.1" "" "" "" "-531" "4328" "2349" "108526318" "108470422" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004220" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X3" "009" "XM_005250396.3" "" "XP_005250453.1" "" "" "" "-295" "2939" "2163" "108526194" "108471625" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004221" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X1" "007" "XM_011516274.1" "" "XP_011514576.1" "" "" "" "-786" "3220" "2433" "108526896" "108471614" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004222" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X2" "008" "XM_011516275.1" "" "XP_011514577.1" "" "" "" "-786" "3023" "2247" "108526896" "108471625" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004223" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X4" "011" "XR_927471.1" "" "" "" "" "" "1" "2899" "2899" "108526896" "108479298" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004224" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X5" "012" "XR_927472.1" "" "" "" "" "" "1" "4300" "4300" "108526896" "108480184" "00001" "2016-05-13 12:10:01" "" "" "" "" "00004225" "PNPLA8" "patatin-like phospholipase domain containing 8, transcript variant X6" "010" "XR_927473.1" "" "" "" "" "" "1" "2713" "2713" "108526896" "108479298" "00001" "2016-05-13 12:10:01" "" "" "" "" ## 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}}" "00408" "251950" "MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS" "251950" "" "" "" "00001" "2014-04-08 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PNPLA8" "00408" ## 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 = 2 "{{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}}" "0000022260" "0" "00" "7" "108112918" "108112919" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:11:25" "PNPLA8_000001" "g.108112918_108112919del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022260" "" "0000022261" "0" "99" "7" "108155299" "108155302" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 06:36:29" "PNPLA8_000002" "g.108155299_108155302del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022261" "" ## 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 = 12 "{{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}}" "0000022260" "00004214" "00" "2275" "0" "2276" "0" "c.2275_2276del" "" "p.(Leu759Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022260" "00004215" "00" "2275" "0" "2276" "0" "c.2275_2276del" "" "p.(Leu759Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022260" "00004216" "00" "2089" "0" "2090" "0" "c.2089_2090del" "" "p.(Leu697Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022260" "00004217" "00" "1975" "0" "1976" "0" "c.1975_1976del" "" "p.(Leu659Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022260" "00004218" "00" "1975" "0" "1976" "0" "c.1975_1976del" "" "p.(Leu659Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022260" "00004219" "00" "2275" "0" "2276" "0" "c.2275_2276del" "" "p.(Leu759Alafs*4)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004214" "00" "634" "0" "637" "0" "c.634_637del" "" "p.(Asn212Hisfs*29)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004215" "00" "634" "0" "637" "0" "c.634_637del" "" "p.(Asn212Hisfs*29)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004216" "00" "634" "0" "637" "0" "c.634_637del" "" "p.(Asn212Hisfs*29)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004217" "00" "334" "0" "337" "0" "c.334_337del" "" "p.(Asn112Hisfs*29)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004218" "00" "334" "0" "337" "0" "c.334_337del" "" "p.(Asn112Hisfs*29)" "r.(?)" "" "" "" "" "" "-" "0000022261" "00004219" "00" "634" "0" "637" "0" "c.634_637del" "" "p.(Asn212Hisfs*29)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0