### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CTLA4) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "CTLA4" "cytotoxic T-lymphocyte associated protein 4" "2" "q33.2" "unknown" "LRG_1220" "UD_144411415410" "" "" "" "1" "2505" "1493" "123890" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-17 12:16:55" "" "" "00005" "2021-09-02 09:48:46" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00000101" "CTLA4" "transcript variant 1" "001" "NM_005214.4" "" "NP_005205.2" "" "" "" "-155" "1820" "672" "203867788" "203873960" "00001" "2021-01-17 12:16:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00056" "SLE" "systemic lupus erythematosus" "" "" "" "" "" "00001" "2021-01-07 09:14:57" "" "" "00066" "LF" "lymphatic filariasis" "Mu" "" "" "" "" "00001" "2021-02-21 14:43:52" "" "" "00134" "PID" "Primary immunodeficiency diseases" "" "" "" "" "" "00001" "2021-06-27 11:21:00" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CTLA4" "00056" "CTLA4" "00066" "CTLA4" "00134" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000355" "" "" "" "1" "" "00002" "{PMID:Kek-Heng Chua et al. (2010):19951233}" "" "" "Malaysia" "" "" "" "00000440" "" "" "" "1" "" "00004" "{PMID:Zulkarnain Md Idris:21513760}" "" "" "East Malaysia" "" "" "" "00000713" "" "" "" "1" "" "00004" "{PMID:Adiratna Mat Ripen et al.(2020):32547748}" "" "" "Malaysia" "Malay" "" "F" "00000714" "" "" "" "1" "" "00004" "{PMID:Adiratna Mat Ripen et al.(2020):32547748}" "" "" "Malaysia" "Malay" "" "F" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000355" "00056" "00000440" "00066" "00000713" "00134" "00000714" "00134" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00056, 00066, 00134 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000258" "00134" "00000713" "00004" "Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive.\r\nPassed away at 10 years" "" "0000000259" "00134" "00000714" "00004" "Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive.\r\nPassed away at 11 years" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000369" "00000355" "1" "00002" "00002" "2021-01-17 12:30:50" "" "" "PCR" "DNA" "0000000477" "00000440" "1" "00004" "00004" "2021-02-21 15:56:38" "" "" "PCR" "DNA" "0000000798" "00000713" "1" "00004" "00004" "2021-06-27 12:04:27" "" "" "PCR;SEQ" "DNA" "0000000802" "00000714" "1" "00004" "00004" "2021-06-27 12:23:54" "" "" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000369" "CTLA4" "0000000477" "CTLA4" "0000000798" "CTLA4" "0000000802" "CTLA4" ## 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 = 16 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001632" "0" "90" "2" "203866221" "203866221" "subst" "0" "00002" "CTLA4_000001" "g.203866221T>C" "68/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}, {dbSNP:rs733618}" "–1722T/C" "" "rs733618" "0000001633" "3" "90" "2" "203866221" "203866221" "subst" "0" "00002" "CTLA4_000001" "g.203866221T>C" "11/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}, {dbSNP:rs733618}" "–1722T/C" "" "rs733618" "0000001634" "0" "90" "2" "203866282" "203866282" "subst" "0" "00002" "CTLA4_000002" "g.203866282A>G" "27/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}" "–1661A/G" "" "" "0000001635" "0" "90" "2" "203867625" "203867625" "subst" "0" "00002" "CTLA4_000003" "g.203867625A>T" "19/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}" "–318C/T" "" "" "0000001636" "0" "10" "2" "203867991" "203867991" "subst" "0" "00002" "CTLA4_000004" "g.203867991A>G" "69/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}, {dbSNP:rs231775}, {ClinVar:16921}" "49A/G" "" "rs231775" "0000001637" "3" "10" "2" "203867991" "203867991" "subst" "0" "00002" "CTLA4_000004" "g.203867991A>G" "43/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}, {dbSNP:rs231775}, {ClinVar:16921}" "49A/G" "" "rs231775" "0000001638" "0" "90" "2" "203878370" "203878370" "subst" "0" "00002" "CTLA4_000005" "g.203878370A>G" "26/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}" "6230A/G" "" "" "0000001639" "3" "90" "2" "203878370" "203878370" "subst" "0" "00002" "CTLA4_000005" "g.203878370A>G" "100/130" "{PMID:Kek-Heng Chua et al. (2010):19951233}" "6230A/G" "" "" "0000002074" "0" "90" "2" "203867991" "203867991" "subst" "0" "00004" "CTLA4_000004" "g.203867991A>G" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs733618" "0000002075" "0" "90" "2" "203866221" "203866221" "subst" "0" "00004" "CTLA4_000001" "g.203866221T>C" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs733618" "0000002076" "0" "90" "2" "203866366" "203866366" "subst" "0" "00004" "CTLA4_000006" "g.203866366G>A" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs11571316" "0000002077" "0" "90" "2" "203866796" "203866796" "subst" "0" "00004" "CTLA4_000007" "g.203866796C>T" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs16840252" "0000002078" "0" "90" "2" "203867624" "203867624" "subst" "0" "00004" "CTLA4_000008" "g.203867624C>T" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs5742909" "0000002079" "0" "90" "2" "203867991" "203867991" "subst" "0" "00004" "CTLA4_000009" "g.203867991A>T" "" "{PMID:Zulkarnain Md Idris et al.(2011):21513760}" "" "" "rs231775" "0000002920" "0" "50" "2" "203867991" "203867991" "subst" "0" "00004" "CTLA4_000004" "g.203867991A>G" "" "{PMID:Adiratna Mat Ripen et al.(2020):32547748}" "" "" "rs231775" "0000002921" "0" "50" "2" "203867991" "203867991" "subst" "0" "00004" "CTLA4_000004" "g.203867991A>G" "" "{PMID:Adiratna Mat Ripen et al.(2020):32547748}" "" "" "rs231775" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes CTLA4 ## Count = 16 "{{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/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001632" "00000101" "90" "-1722" "0" "-1722" "0" "c.-1722T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001633" "00000101" "90" "-1722" "0" "-1722" "0" "c.-1722T>C" "" "p.(=)" "r.(=)" "" "" "" "0000001634" "00000101" "90" "-1661" "0" "-1661" "0" "c.-1661A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001635" "00000101" "90" "-318" "0" "-318" "0" "c.-318A>T" "" "p.(=)" "r.(=)" "" "" "" "0000001636" "00000101" "10" "49" "0" "49" "0" "c.49A>G" "1" "p.(Thr17Ala)" "r.(?)" "" "" "{ClinVar:16921}" "0000001637" "00000101" "10" "49" "0" "49" "0" "c.49A>G" "1" "p.(Thr17Ala)" "r.(?)" "" "" "{ClinVar:16921}" "0000001638" "00000101" "90" "6230" "0" "6230" "0" "c.*5558A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001639" "00000101" "90" "6230" "0" "6230" "0" "c.*5558A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002074" "00000101" "90" "49" "0" "49" "0" "c.49A>G" "" "p.(Thr17Ala)" "r.(?)" "" "" "Benign" "0000002075" "00000101" "90" "-1722" "0" "-1722" "0" "c.-1722T>C" "" "p.(=)" "r.(=)" "" "" "" "0000002076" "00000101" "90" "-1577" "0" "-1577" "0" "c.-1577G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002077" "00000101" "90" "-1147" "0" "-1147" "0" "c.-1147C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002078" "00000101" "90" "-319" "0" "-319" "0" "c.-319C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002079" "00000101" "90" "49" "0" "49" "0" "c.49A>T" "" "p.(Thr17Ser)" "r.(?)" "" "" "Benign" "0000002920" "00000101" "50" "49" "0" "49" "0" "c.49A>G" "1" "p.(Thr17Ala)" "r.(?)" "" "" "Benign" "0000002921" "00000101" "50" "49" "0" "49" "0" "c.49A>G" "1" "p.(Thr17Ala)" "r.(?)" "" "" "Benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000000369" "0000001632" "0000000369" "0000001633" "0000000369" "0000001634" "0000000369" "0000001635" "0000000369" "0000001636" "0000000369" "0000001637" "0000000369" "0000001638" "0000000369" "0000001639" "0000000477" "0000002074" "0000000477" "0000002075" "0000000477" "0000002076" "0000000477" "0000002077" "0000000477" "0000002078" "0000000477" "0000002079" "0000000798" "0000002920" "0000000802" "0000002921"