### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RORB) # 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}}" "RORB" "RAR related orphan receptor B" "9" "q21.13" "unknown" "NG_046926.2" "UD_144422459173" "" "" "" "1" "10259" "6096" "601972" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-26 12:30:33" "" "" "00005" "2021-09-06 17:32:23" ## 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}}" "00000111" "RORB" "RAR related orphan receptor B" "001" "NM_006914.3" "" "NP_008845.2" "" "" "" "-641" "2963" "1380" "74497336" "74687201" "00001" "2021-01-26 12:30:33" "" "" ## 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}}" "00061" "-" "Epilepsy" "" "" "" "" "" "00001" "2021-01-25 09:42:02" "00001" "2021-02-25 09:30:15" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RORB" "00061" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00000381" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Chinese" "" "" "00000382" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Indian" "" "" "00000383" "" "" "" "1" "" "00002" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Malay" "" "" "00000430" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Chinese" "" "" "00000432" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Malay" "" "" "00000433" "" "" "" "1" "" "00004" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000381" "00061" "00000382" "00061" "00000383" "00061" "00000430" "00061" "00000432" "00061" "00000433" "00061" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00061 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000395" "00000381" "1" "00002" "00002" "2021-01-26 12:37:52" "" "" "SEQ;SBE" "DNA" "0000000396" "00000382" "1" "00002" "00002" "2021-01-27 10:14:21" "" "" "SEQ;SBE" "DNA" "0000000397" "00000383" "1" "00002" "00002" "2021-01-27 10:26:43" "" "" "SEQ;SBE" "DNA" "0000000462" "00000430" "1" "00004" "00004" "2021-02-18 13:06:07" "" "" "SBE" "DNA" "0000000467" "00000432" "1" "00004" "00004" "2021-02-18 15:24:35" "" "" "SBE" "DNA" "0000000468" "00000433" "1" "00004" "00004" "2021-02-18 15:28:37" "" "" "SBE" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000000395" "RORB" "0000000396" "RORB" "0000000397" "RORB" "0000000462" "RORB" "0000000467" "RORB" "0000000468" "RORB" ## 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}}" "0000001770" "0" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "42/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001771" "3" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "1/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001772" "0" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "33/251" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001773" "3" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "215/251" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001774" "0" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "134/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001775" "3" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "49/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001776" "0" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "65/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000001777" "3" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "3/260" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000001778" "0" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "45/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001779" "3" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "2/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001780" "0" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "42/139" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001781" "3" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "96/139" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001782" "0" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "71/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001783" "3" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "54/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001784" "0" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "44/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000001785" "3" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "1/143" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000001786" "0" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "40/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001787" "3" "90" "9" "74623944" "74623944" "subst" "0" "00002" "RORB_000005" "g.74623944T>A" "3/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs1157358}" "" "" "rs1157358" "0000001788" "0" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "39/223" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001789" "3" "90" "9" "74629537" "74629537" "subst" "0" "00002" "RORB_000002" "g.74629537G>A" "182/223" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs7022435}" "" "" "rs7022435" "0000001790" "0" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "109/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001791" "3" "90" "9" "74634466" "74634466" "subst" "0" "00002" "RORB_000006" "g.74634466C>A" "72/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3750420}" "" "" "rs3750420" "0000001792" "0" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "43/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000001793" "3" "90" "9" "74649312" "74649312" "subst" "0" "00002" "RORB_000004" "g.74649312T>A" "2/228" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}, {dbSNP:rs3903529}" "" "" "rs3903529" "0000002031" "0" "90" "9" "74623944" "74623944" "subst" "0" "00004" "RORB_000001" "g.74623944T>C" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs1157358" "0000002032" "0" "90" "9" "74629537" "74629537" "subst" "0" "00004" "RORB_000002" "g.74629537G>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs7022435" "0000002040" "0" "90" "9" "74634466" "74634466" "subst" "0" "00004" "RORB_000003" "g.74634466C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3750420" "0000002042" "0" "90" "9" "74649312" "74649312" "subst" "0" "00004" "RORB_000004" "g.74649312T>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3903529" "0000002048" "0" "90" "9" "74649312" "74649312" "subst" "0" "00004" "RORB_000004" "g.74649312T>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3903529" "0000002049" "0" "90" "9" "74649312" "74649312" "subst" "0" "00004" "RORB_000004" "g.74649312T>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3903529" "0000002050" "0" "90" "9" "74634466" "74634466" "subst" "0" "00004" "RORB_000003" "g.74634466C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3750420" "0000002051" "0" "90" "9" "74634466" "74634466" "subst" "0" "00004" "RORB_000003" "g.74634466C>T" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs3750420" "0000002052" "0" "90" "9" "74629537" "74629537" "subst" "0" "00004" "RORB_000002" "g.74629537G>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs7022435" "0000002053" "0" "90" "9" "74629537" "74629537" "subst" "0" "00004" "RORB_000002" "g.74629537G>A" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs7022435" "0000002054" "0" "90" "9" "74623944" "74623944" "subst" "0" "00004" "RORB_000001" "g.74623944T>C" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs1157358" "0000002055" "0" "90" "9" "74623944" "74623944" "subst" "0" "00004" "RORB_000001" "g.74623944T>C" "" "{PMID:Batoul Sadat Haerian et al. (2015):25668517}" "" "" "rs1157358" ## 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 RORB ## 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}}" "0000001770" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001771" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001772" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001773" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001774" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001775" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001776" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001777" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001778" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001779" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001780" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001781" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001782" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001783" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001784" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001785" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001786" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001787" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001788" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001789" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001790" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001791" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>A" "" "p.(=)" "r.(=)" "" "" "" "0000001792" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000001793" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000002031" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>C" "" "p.(=)" "r.(=)" "" "" "" "0000002032" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002040" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002042" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000002048" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000002049" "00000111" "90" "637" "6497" "637" "6497" "c.637+6497T>A" "" "p.(=)" "r.(=)" "" "" "" "0000002050" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002051" "00000111" "90" "94" "-165" "94" "-165" "c.94-165C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002052" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002053" "00000111" "90" "8" "-745" "8" "-745" "c.8-745G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002054" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>C" "" "p.(=)" "r.(=)" "" "" "" "0000002055" "00000111" "90" "8" "-6338" "8" "-6338" "c.8-6338T>C" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000000395" "0000001770" "0000000395" "0000001771" "0000000395" "0000001772" "0000000395" "0000001773" "0000000395" "0000001774" "0000000395" "0000001775" "0000000395" "0000001776" "0000000395" "0000001777" "0000000396" "0000001778" "0000000396" "0000001779" "0000000396" "0000001780" "0000000396" "0000001781" "0000000396" "0000001782" "0000000396" "0000001783" "0000000396" "0000001784" "0000000396" "0000001785" "0000000397" "0000001786" "0000000397" "0000001787" "0000000397" "0000001788" "0000000397" "0000001789" "0000000397" "0000001790" "0000000397" "0000001791" "0000000397" "0000001792" "0000000397" "0000001793" "0000000462" "0000002031" "0000000462" "0000002032" "0000000462" "0000002040" "0000000462" "0000002042" "0000000467" "0000002048" "0000000467" "0000002050" "0000000467" "0000002052" "0000000467" "0000002055" "0000000468" "0000002049" "0000000468" "0000002051" "0000000468" "0000002053" "0000000468" "0000002054"