### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRGM) # 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}}" "IRGM" "immunity related GTPase M" "5" "q33.1" "unknown" "NG_027809.2" "UD_144423729374" "" "" "" "1" "29597" "345611" "608212" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-21 15:10:03" "" "" "00005" "2021-08-29 15:13:48" ## 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}}" "00000076" "IRGM" "transcript variant 1" "001" "NM_001346557.1" "" "NP_001333486.1" "" "" "" "-1113" "2407" "645" "150846523" "150902402" "00001" "2020-12-21 15:10:57" "" "" ## 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}}" "00047" "CD" "Crohn\'s disease" "" "" "" "" "" "00001" "2020-12-20 15:06:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IRGM" "00047" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000291" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Malay" "" "" "00000292" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Chinese" "" "" "00000293" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000291" "00047" "00000292" "00047" "00000293" "00047" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00047 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000306" "00000291" "1" "00002" "00002" "2020-12-21 15:16:46" "" "" "TaqMan" "DNA" "0000000307" "00000292" "1" "00002" "00002" "2020-12-21 15:26:48" "" "" "TaqMan" "DNA" "0000000308" "00000293" "1" "00002" "00002" "2020-12-21 16:04:41" "" "" "TaqMan" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000000306" "IRGM" "0000000307" "IRGM" "0000000308" "IRGM" ## 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 = 15 "{{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}}" "0000001384" "0" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "6/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001385" "3" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "2/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001386" "0" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "14/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001387" "3" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "9/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001388" "0" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "17/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs11747270}" "" "" "rs11747270" "0000001389" "3" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "3/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs11747270}" "" "" "rs11747270" "0000001390" "0" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "7/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs11747270}" "" "" "rs11747270" "0000001391" "3" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "1/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs11747270}" "" "" "rs11747270" "0000001392" "0" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "22/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001393" "3" "90" "5" "150860025" "150860025" "subst" "0" "00002" "IRGM_000001" "g.150860025G>A" "2/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001394" "0" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "16/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs4958847}" "" "" "rs4958847" "0000001395" "3" "90" "5" "150879305" "150879305" "subst" "0" "00002" "IRGM_000002" "g.150879305A>G" "1/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs11747270}" "" "" "rs11747270" "0000001396" "0" "90" "5" "150848404" "150848404" "subst" "0" "00002" "IRGM_000003" "g.150848404C>A" "1/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs72553867}" "" "" "rs72553867" "0000001397" "0" "90" "5" "150848404" "150848404" "subst" "0" "00002" "IRGM_000003" "g.150848404C>A" "9/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs72553867}" "" "" "rs72553867" "0000001398" "0" "90" "5" "150848404" "150848404" "subst" "0" "00002" "IRGM_000003" "g.150848404C>A" "8/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs72553867}" "" "" "rs72553867" ## 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 IRGM ## Count = 15 "{{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}}" "0000001384" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001385" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001386" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001387" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001388" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001389" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001390" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001391" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001392" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001393" "00000076" "90" "531" "11371" "531" "11371" "c.531+11371G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001394" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001395" "00000076" "90" "532" "-280" "532" "-280" "c.532-280A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001396" "00000076" "90" "281" "0" "281" "0" "c.281C>A" "" "p.(Thr94Lys)" "r.(?)" "" "" "" "0000001397" "00000076" "90" "281" "0" "281" "0" "c.281C>A" "" "p.(Thr94Lys)" "r.(?)" "" "" "" "0000001398" "00000076" "90" "281" "0" "281" "0" "c.281C>A" "" "p.(Thr94Lys)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000306" "0000001384" "0000000306" "0000001385" "0000000306" "0000001390" "0000000306" "0000001391" "0000000306" "0000001396" "0000000307" "0000001386" "0000000307" "0000001387" "0000000307" "0000001388" "0000000307" "0000001389" "0000000307" "0000001397" "0000000308" "0000001392" "0000000308" "0000001393" "0000000308" "0000001394" "0000000308" "0000001395" "0000000308" "0000001398"