### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA0317)
# 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}}"
"KIAA0317" "KIAA0317" "14" "q24.2" "unknown" "NC_000014.8" "UD_132319811949" "" "https://www.LOVD.nl/AREL1" "" "1" "20363" "9870" "615380" "1" "1" "1" "1" "NOTE: gene name changed from KIAA0317 to AREL1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from KIAA0317 to AREL1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-05 17:10:12" "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}}"
"00010492" "KIAA0317" "KIAA0317" "001" "NM_001039479.1" "" "NP_001034568.1" "" "" "" "-505" "4940" "2472" "75179807" "75127955" "" "0000-00-00 00:00:00" "" ""
## 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}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00318036" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "Punjabi" "PKMR258"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}" "{{diseaseid}}"
"00318036" "00139"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139
## Count = 1
"{{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}}"
"0000241820" "00139" "00318036" "00006" "Familial, autosomal recessive" "" "Moderate ID, delayed CMS, speech delay, aggressive, ADHD and skin hypopigmentation. IV:1 has menorrhagia; IV:2 has spasticity, sleep disturbance and auto mutilation while IV:3 has auto mutilation and vertebral anomalies." "" "" "" "" "" "" "" "" "intellectual disability"
## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000319218" "00318036" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000319218" "KIAA0317"
## 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 = 5
"{{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}}"
"0000553038" "0" "50" "14" "75136681" "75136681" "subst" "1.63164E-5" "01804" "KIAA0317_000001" "g.75136681G>C" "" "" "" "AREL1(NM_001039479.1):c.1757C>G (p.(Ala586Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74669978G>C" "" "VUS" ""
"0000553039" "0" "50" "14" "75139801" "75139801" "subst" "0.00150817" "01804" "KIAA0317_000002" "g.75139801G>A" "" "" "" "AREL1(NM_001039479.1):c.1279C>T (p.(Arg427Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74673098G>A" "" "VUS" ""
"0000553040" "0" "30" "14" "75150125" "75150125" "subst" "0.00113712" "01804" "KIAA0317_000003" "g.75150125G>C" "" "" "" "AREL1(NM_001039479.1):c.355C>G (p.(Gln119Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74683422G>C" "" "likely benign" ""
"0000701882" "3" "50" "14" "75150203" "75150203" "subst" "0.00104408" "00006" "KIAA0317_000004" "g.75150203G>A" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.74683500G>A" "" "VUS" ""
"0001001145" "0" "50" "14" "75143386" "75143386" "subst" "0.000166545" "01804" "KIAA0317_000005" "g.75143386G>A" "" "" "" "AREL1(NM_001039479.1):c.551C>T (p.(Pro184Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## 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 KIAA0317
## Count = 5
"{{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}}"
"0000553038" "00010492" "50" "1757" "0" "1757" "0" "c.1757C>G" "r.(?)" "p.(Ala586Gly)" ""
"0000553039" "00010492" "50" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Arg427Cys)" ""
"0000553040" "00010492" "30" "355" "0" "355" "0" "c.355C>G" "r.(?)" "p.(Gln119Glu)" ""
"0000701882" "00010492" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" ""
"0001001145" "00010492" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{variantid}}"
"0000319218" "0000701882"