### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DISC1) # 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}}" "DISC1" "DISC1 scaffold protein" "1" "q42.2" "unknown" "NG_011681.2" "UD_144416752673" "" "" "" "1" "2888" "27185" "605210" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-18 10:24:40" "" "" "00005" "2021-09-08 11:26:51" ## 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}}" "00000104" "DISC1" "transcript variant a" "009" "NM_001164537.1" "" "NP_001158009.1" "" "" "" "-53" "7102" "2661" "231626815" "232041272" "00001" "2021-01-18 10:24:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "-" "Schizophrenia disease" "" "" "" "" "" "00001" "2021-01-18 10:23:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DISC1" "00058" ## 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 ## ## Note: Only showing Phenotype columns active for Diseases 00058 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000374" "00000360" "1" "00002" "00002" "2021-01-18 10:32:23" "" "" "PCR" "DNA" "0000000376" "00000362" "1" "00002" "00002" "2021-01-19 10:09:07" "" "" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000000374" "DISC1" "0000000376" "DISC1" ## 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 = 36 "{{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}}" "0000001648" "0" "90" "1" "231966518" "231966518" "subst" "0" "00002" "DISC1_000002" "g.231966518G>A" "55/196" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821597}" "" "" "rs821597" "0000001649" "3" "90" "1" "231966518" "231966518" "subst" "0" "00002" "DISC1_000002" "g.231966518G>A" "43/196" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821597}" "" "" "rs821597" "0000001650" "0" "90" "1" "232008852" "232008852" "subst" "0" "00002" "DISC1_000003" "g.232008852A>T" "32/218" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821616}" "" "" "rs821616" "0000001651" "3" "90" "1" "232008852" "232008852" "subst" "0" "00002" "DISC1_000003" "g.232008852A>T" "107/218" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821616}" "" "" "rs821616" "0000001652" "0" "90" "1" "231972068" "231972068" "subst" "0" "00002" "DISC1_000004" "g.231972068C>T" "26/199" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658971}" "" "" "rs4658971" "0000001653" "3" "90" "1" "231972068" "231972068" "subst" "0" "00002" "DISC1_000004" "g.231972068C>T" "91/199" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658971}" "" "" "rs4658971" "0000001654" "0" "90" "1" "231761122" "231761122" "subst" "0" "00002" "DISC1_000005" "g.231761122C>T" "63/210" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1538979}" "" "" "rs1538979" "0000001655" "3" "90" "1" "231761122" "231761122" "subst" "0" "00002" "DISC1_000005" "g.231761122C>T" "67/210" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1538979}" "" "" "rs1538979" "0000001656" "0" "90" "1" "231994862" "231994862" "subst" "0" "00002" "DISC1_000006" "g.231994862C>G" "62/190" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs843979}" "" "" "rs843979" "0000001657" "3" "90" "1" "231994862" "231994862" "subst" "0" "00002" "DISC1_000006" "g.231994862C>G" "41/190" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs843979}" "" "" "rs843979" "0000001658" "0" "90" "1" "231728256" "231728256" "subst" "0" "00002" "DISC1_000007" "g.231728256G>T" "69/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2812385}" "" "" "rs2812385" "0000001659" "3" "90" "1" "231728256" "231728256" "subst" "0" "00002" "DISC1_000007" "g.231728256G>T" "44/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2812385}" "" "" "rs2812385" "0000001660" "0" "90" "1" "231892165" "231892165" "subst" "0" "00002" "DISC1_000008" "g.231892165G>T" "32/222" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs843979}" "" "" "rs843979" "0000001661" "3" "90" "1" "231892165" "231892165" "subst" "0" "00002" "DISC1_000008" "g.231892165G>T" "112/222" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1407599}" "" "" "rs1407599" "0000001662" "0" "90" "1" "231888335" "231888335" "subst" "0" "00002" "DISC1_000009" "g.231888335G>C" "83/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658890}" "" "" "rs4658890" "0000001663" "0" "90" "1" "231888335" "231888335" "subst" "0" "00002" "DISC1_000009" "g.231888335G>C" "33/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658890}" "" "" "rs4658890" "0000001664" "0" "90" "1" "91046275" "91046275" "subst" "0" "00002" "DISC1_000001" "g.91046275G>C" "25/209" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2509382}" "" "" "rs2509382" "0000001665" "3" "90" "1" "91046275" "91046275" "subst" "0" "00002" "DISC1_000001" "g.91046275G>C" "110/209" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2509382}" "" "" "rs2509382" "0000001668" "0" "90" "1" "231966518" "231966518" "subst" "0" "00002" "DISC1_000002" "g.231966518G>A" "29/196" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821597}" "" "" "rs821597" "0000001669" "3" "90" "1" "231966518" "231966518" "subst" "0" "00002" "DISC1_000002" "g.231966518G>A" "29/196" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821597}" "" "" "rs821597" "0000001670" "0" "90" "1" "232008852" "232008852" "subst" "0" "00002" "DISC1_000003" "g.232008852A>T" "19/218" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821616}" "" "" "rs821616" "0000001671" "3" "90" "1" "232008852" "232008852" "subst" "0" "00002" "DISC1_000003" "g.232008852A>T" "58/218" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs821616}" "" "" "rs821616" "0000001672" "0" "90" "1" "231972068" "231972068" "subst" "0" "00002" "DISC1_000004" "g.231972068C>T" "17/199" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658971}" "" "" "rs4658971" "0000001673" "3" "90" "1" "231972068" "231972068" "subst" "0" "00002" "DISC1_000004" "g.231972068C>T" "45/199" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658971}" "" "" "rs4658971" "0000001674" "0" "90" "1" "231761122" "231761122" "subst" "0" "00002" "DISC1_000005" "g.231761122C>T" "31/210" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1538979}" "" "" "rs1538979" "0000001675" "3" "90" "1" "231761122" "231761122" "subst" "0" "00002" "DISC1_000005" "g.231761122C>T" "37/210" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1538979}" "" "" "rs1538979" "0000001676" "0" "90" "1" "231994862" "231994862" "subst" "0" "00002" "DISC1_000006" "g.231994862C>G" "31/190" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs843979}" "" "" "rs843979" "0000001677" "3" "90" "1" "231994862" "231994862" "subst" "0" "00002" "DISC1_000006" "g.231994862C>G" "29/190" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs843979}" "" "" "rs843979" "0000001678" "0" "90" "1" "231728256" "231728256" "subst" "0" "00002" "DISC1_000007" "g.231728256G>T" "32/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2812385}" "" "" "rs2812385" "0000001679" "3" "90" "1" "231728256" "231728256" "subst" "0" "00002" "DISC1_000007" "g.231728256G>T" "27/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2812385}" "" "" "rs2812385" "0000001680" "0" "90" "1" "231892165" "231892165" "subst" "0" "00002" "DISC1_000008" "g.231892165G>T" "20/222" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1407599}" "" "" "rs1407599" "0000001681" "3" "90" "1" "231892165" "231892165" "subst" "0" "00002" "DISC1_000008" "g.231892165G>T" "54/222" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs1407599}" "" "" "rs1407599" "0000001682" "0" "90" "1" "231888335" "231888335" "subst" "0" "00002" "DISC1_000009" "g.231888335G>C" "39/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658890}" "" "" "rs4658890" "0000001683" "3" "90" "1" "231888335" "231888335" "subst" "0" "00002" "DISC1_000009" "g.231888335G>C" "20/216" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs4658890}" "" "" "rs4658890" "0000001684" "0" "90" "1" "91046275" "91046275" "subst" "0" "00002" "DISC1_000001" "g.91046275G>C" "9/209" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2509382}" "" "" "rs2509382" "0000001685" "3" "90" "1" "91046275" "91046275" "subst" "0" "00002" "DISC1_000001" "g.91046275G>C" "62/209" "{PMID:A Talib Norlelawati et al. (2015):25670952}, {dbSNP:rs2509382}" "" "" "rs2509382" ## 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 DISC1 ## Count = 36 "{{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}}" "0000001648" "00000104" "90" "2138" "7630" "2138" "7630" "c.2138+7630G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001649" "00000104" "90" "2138" "7630" "2138" "7630" "c.2138+7630G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001650" "00000104" "90" "2206" "0" "2206" "0" "c.2206A>T" "" "p.(Ser736Cys)" "r.(?)" "" "" "" "0000001651" "00000104" "90" "2206" "0" "2206" "0" "c.2206A>T" "" "p.(Ser736Cys)" "r.(?)" "" "" "" "0000001652" "00000104" "90" "2138" "13180" "2138" "13180" "c.2138+13180C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001653" "00000104" "90" "2138" "13180" "2138" "13180" "c.2138+13180C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001654" "00000104" "90" "1365" "-6018" "1365" "-6018" "c.1365-6018C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001655" "00000104" "90" "1365" "-6018" "1365" "-6018" "c.1365-6018C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001656" "00000104" "90" "2139" "-13923" "2139" "-13923" "c.2139-13923C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001657" "00000104" "90" "2139" "-13923" "2139" "-13923" "c.2139-13923C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001658" "00000104" "90" "1118" "-17148" "1118" "-17148" "c.1118-17148G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001659" "00000104" "90" "1118" "-17148" "1118" "-17148" "c.1118-17148G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001660" "00000104" "90" "2078" "-66663" "2078" "-66663" "c.2078-66663G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001661" "00000104" "90" "2078" "-66663" "2078" "-66663" "c.2078-66663G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001662" "00000104" "90" "2077" "69818" "2077" "69818" "c.2077+69818G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001663" "00000104" "90" "2077" "69818" "2077" "69818" "c.2077+69818G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001664" "00000104" "90" "-8388608" "0" "-8388608" "0" "c.-140580593G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001665" "00000104" "90" "-8388608" "0" "-8388608" "0" "c.-140580593G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001668" "00000104" "90" "2138" "7630" "2138" "7630" "c.2138+7630G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001669" "00000104" "90" "2138" "7630" "2138" "7630" "c.2138+7630G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001670" "00000104" "90" "2206" "0" "2206" "0" "c.2206A>T" "" "p.(Ser736Cys)" "r.(?)" "" "" "" "0000001671" "00000104" "90" "2206" "0" "2206" "0" "c.2206A>T" "" "p.(Ser736Cys)" "r.(?)" "" "" "" "0000001672" "00000104" "90" "2138" "13180" "2138" "13180" "c.2138+13180C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001673" "00000104" "90" "2138" "13180" "2138" "13180" "c.2138+13180C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001674" "00000104" "90" "1365" "-6018" "1365" "-6018" "c.1365-6018C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001675" "00000104" "90" "1365" "-6018" "1365" "-6018" "c.1365-6018C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001676" "00000104" "90" "2139" "-13923" "2139" "-13923" "c.2139-13923C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001677" "00000104" "90" "2139" "-13923" "2139" "-13923" "c.2139-13923C>G" "" "p.(=)" "r.(=)" "" "" "" "0000001678" "00000104" "90" "1118" "-17148" "1118" "-17148" "c.1118-17148G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001679" "00000104" "90" "1118" "-17148" "1118" "-17148" "c.1118-17148G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001680" "00000104" "90" "2078" "-66663" "2078" "-66663" "c.2078-66663G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001681" "00000104" "90" "2078" "-66663" "2078" "-66663" "c.2078-66663G>T" "" "p.(=)" "r.(=)" "" "" "" "0000001682" "00000104" "90" "2077" "69818" "2077" "69818" "c.2077+69818G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001683" "00000104" "90" "2077" "69818" "2077" "69818" "c.2077+69818G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001684" "00000104" "90" "-8388608" "0" "-8388608" "0" "c.-140580593G>C" "" "p.(=)" "r.(=)" "" "" "" "0000001685" "00000104" "90" "-8388608" "0" "-8388608" "0" "c.-140580593G>C" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000000374" "0000001648" "0000000374" "0000001649" "0000000374" "0000001650" "0000000374" "0000001651" "0000000374" "0000001652" "0000000374" "0000001653" "0000000374" "0000001654" "0000000374" "0000001655" "0000000374" "0000001656" "0000000374" "0000001657" "0000000374" "0000001658" "0000000374" "0000001659" "0000000374" "0000001660" "0000000374" "0000001661" "0000000374" "0000001662" "0000000374" "0000001663" "0000000374" "0000001664" "0000000374" "0000001665" "0000000376" "0000001668" "0000000376" "0000001669" "0000000376" "0000001670" "0000000376" "0000001671" "0000000376" "0000001672" "0000000376" "0000001673" "0000000376" "0000001674" "0000000376" "0000001675" "0000000376" "0000001676" "0000000376" "0000001677" "0000000376" "0000001678" "0000000376" "0000001679" "0000000376" "0000001680" "0000000376" "0000001681" "0000000376" "0000001682" "0000000376" "0000001683" "0000000376" "0000001684" "0000000376" "0000001685"