### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAKMIP1) # 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}}" "JAKMIP1" "janus kinase and microtubule interacting protein 1" "4" "p16.1" "unknown" "NC_000004.11" "UD_132438574185" "" "https://www.LOVD.nl/JAKMIP1" "" "1" "26460" "152789" "611195" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/JAKMIP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2017-08-04 11:19:06" "00000" "2024-08-28 13:16:32" ## 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}}" "00001264" "JAKMIP1" "transcript variant 2" "002" "NM_144720.3" "" "NP_653321.1" "" "" "" "-486" "2101" "1881" "6055482" "6202318" "00000" "2012-09-13 13:22:15" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00111419" "" "" "" "1" "" "00729" "" "" "F" "no" "" "" "0" "" "" "" "S_013" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00111419" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01157 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "0000087505" "00139" "00111419" "00729" "Isolated (sporadic)" "" "Feeding difficulties, hypotonia, epilepsy, severe ID, no active speech, kyphoscoliosis, constipation, autism, short stature; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344)" "" "" "" "" "" "" "" "" "" ## 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}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000111883" "00111419" "1" "00729" "00729" "2017-08-03 10:38:03" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000111883" "JAKMIP1" ## 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 = 14 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000003937" "3" "50" "4" "6088242" "6088242" "subst" "0" "00037" "JAKMIP1_000002" "g.6088242T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6086515T>C" "" "VUS" "" "0000003938" "3" "50" "4" "6153923" "6153923" "subst" "0" "00037" "JAKMIP1_000004" "g.6153923C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6152196C>T" "" "VUS" "" "0000011944" "3" "50" "4" "6087873" "6087873" "subst" "0" "00037" "JAKMIP1_000001" "g.6087873C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6086146C>T" "" "VUS" "" "0000011945" "3" "50" "4" "6088242" "6088242" "subst" "0" "00037" "JAKMIP1_000002" "g.6088242T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6086515T>C" "" "VUS" "" "0000179040" "0" "50" "4" "6064169" "6064169" "subst" "0" "00729" "JAKMIP1_000005" "g.6064169T>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.6062442T>C" "" "VUS" "" "0000289926" "0" "30" "4" "6037771" "6037771" "subst" "1.9414E-5" "01943" "JAKMIP1_000006" "g.6037771C>T" "" "" "" "JAKMIP1(NM_001099433.1):c.2239G>A (p.G747S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6036044C>T" "" "likely benign" "" "0000522781" "0" "30" "4" "6086635" "6086635" "subst" "0.000105733" "01943" "JAKMIP1_000007" "g.6086635T>G" "" "" "" "JAKMIP1(NM_001099433.1):c.892A>C (p.N298H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6084908T>G" "" "likely benign" "" "0000609255" "0" "30" "4" "6107497" "6107497" "subst" "0" "01804" "JAKMIP1_000008" "g.6107497C>A" "" "" "" "JAKMIP1(NM_001099433.1):c.327G>T (p.(Glu109Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6105770C>A" "" "likely benign" "" "0000886319" "0" "50" "4" "6083470" "6083470" "subst" "0" "02327" "JAKMIP1_000009" "g.6083470G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963203" "0" "10" "4" "6086719" "6086721" "dup" "0" "02329" "JAKMIP1_000010" "g.6086719_6086721dup" "" "" "" "JAKMIP1(NM_001099433.2):c.835-5_835-3dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000994372" "0" "50" "4" "6064101" "6064101" "subst" "4.07063E-6" "01804" "JAKMIP1_000011" "g.6064101G>A" "" "" "" "JAKMIP1(NM_001099433.1):c.1498C>T (p.(Arg500Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994373" "0" "50" "4" "6064139" "6064139" "subst" "0" "01804" "JAKMIP1_000012" "g.6064139C>T" "" "" "" "JAKMIP1(NM_001099433.1):c.1460G>A (p.(Arg487His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994374" "0" "50" "4" "6080689" "6080689" "subst" "0" "01804" "JAKMIP1_000013" "g.6080689C>T" "" "" "" "JAKMIP1(NM_001099433.1):c.1279G>A (p.(Gly427Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994375" "0" "30" "4" "6086693" "6086694" "ins" "0" "01804" "JAKMIP1_000014" "g.6086693_6086694insAA" "" "" "" "JAKMIP1(NM_001099433.1):c.835-2_835-1insTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 JAKMIP1 ## Count = 14 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000003937" "00001264" "50" "625" "-886" "625" "-886" "c.625-886A>G" "r.(=)" "p.(=)" "" "0000003938" "00001264" "50" "-147" "-39199" "-147" "-39199" "c.-147-39199G>A" "r.(=)" "p.(=)" "" "0000011944" "00001264" "50" "625" "-517" "625" "-517" "c.625-517G>A" "r.(=)" "p.(=)" "" "0000011945" "00001264" "50" "625" "-886" "625" "-886" "c.625-886A>G" "r.(=)" "p.(=)" "" "0000179040" "00001264" "50" "1432" "-2" "1432" "-2" "c.1432-2A>G" "r.spl?" "p.?" "" "0000289926" "00001264" "30" "19812" "0" "19812" "0" "c.*17931G>A" "r.(=)" "p.(=)" "" "0000522781" "00001264" "30" "892" "0" "892" "0" "c.892A>C" "r.(?)" "p.(Asn298His)" "" "0000609255" "00001264" "30" "327" "0" "327" "0" "c.327G>T" "r.(?)" "p.(Glu109Asp)" "" "0000886319" "00001264" "50" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323*)" "" "0000963203" "00001264" "10" "835" "-5" "835" "-3" "c.835-5_835-3dup" "r.spl?" "p.?" "" "0000994372" "00001264" "50" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Cys)" "" "0000994373" "00001264" "50" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" "0000994374" "00001264" "50" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Gly427Arg)" "" "0000994375" "00001264" "30" "835" "-2" "835" "-1" "c.835-2_835-1insTT" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003937" "0000000209" "0000003938" "0000000210" "0000011944" "0000000210" "0000011945" "0000111883" "0000179040"