### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UFC1) # 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}}" "UFC1" "ubiquitin-fold modifier conjugating enzyme 1" "1" "q23.3" "unknown" "NC_000001.10" "UD_132586451837" "" "https://www.LOVD.nl/UFC1" "" "1" "26941" "51506" "610554" "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/UFC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-20 13:04:36" "00000" "2025-05-05 21:14:00" ## 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}}" "00022326" "UFC1" "ubiquitin-fold modifier conjugating enzyme 1" "001" "NM_016406.3" "" "NP_057490.2" "" "" "" "-254" "868" "504" "161123534" "161128646" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "06034" "NEDSG" "Neurodevelopmental disorder with spasticity and poor growth" "AR" "618076" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UFC1" "06034" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00177066" "" "" "" "1" "" "02552" "{PMID:Nahorski 2018:29868776}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Switzerland" "" "0" "" "" "" "76366" "00179399" "" "" "" "3" "" "00006" "{PMID:Nahorski 2018:29868776}" "4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "29868776-Fam1Pats" "00179400" "" "" "" "2" "" "00006" "{PMID:Nahorski 2018:29868776}" "4-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "29868777-Fam2Pats" "00179401" "" "" "" "2" "" "00006" "{PMID:Nahorski 2018:29868776}" "3-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "29868778-Fam2Pats" "00301744" "" "" "" "1" "" "00006" "{PMID:Maddirevula 20198:30237576}" "" "" "" "" "" "0" "" "" "" "17-3196" "00301745" "" "" "" "1" "" "00006" "{PMID:Maddirevula 20198:30237576}" "" "" "" "" "" "0" "" "" "" "17-3892" "00361535" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1577" "00426164" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10DF14100" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00177066" "00344" "00179399" "00344" "00179400" "00344" "00179401" "00344" "00301744" "00198" "00301745" "00198" "00361535" "00139" "00426164" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 06034 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000141876" "00344" "00177066" "02552" "Unknown" "" "HP:0007325\r\nHP:0001285\r\nHP:0005348\r\nHP:0002705\r\nHP:0010804\r\nHP:0000293\r\nHP:0011800\r\nHP:0009748\r\nHP:0009803" "00y03m" "" "" "" "" "" "" "" "" "" "" "0000141885" "00344" "00179399" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy" "" "" "" "" "" "" "" "" "" "early-onset encephalopathy" "" "0000141886" "00344" "00179400" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy" "" "" "" "" "" "" "" "" "" "early-onset encephalopathy" "" "0000141887" "00344" "00179401" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe early infantile encephalopathy, progressive microcephaly, axial hypotonia, appendicular hypertonia, refractory epilepsy" "" "" "" "" "" "" "" "" "" "early-onset encephalopathy" "" "0000228842" "00198" "00301744" "00006" "Familial, autosomal recessive" "" "global developmental delay, progressive microcephaly" "" "" "" "" "" "" "" "" "" "global developmental delay, progressive microcephaly" "" "0000228843" "00198" "00301745" "00006" "Familial, autosomal recessive" "" "global developmental delay, progressive microcephaly" "" "" "" "" "" "" "" "" "" "global developmental delay, progressive microcephaly" "" "0000256940" "00139" "00361535" "00006" "Familial, autosomal recessive" "16y" "not syndromic; Neurodegeneration" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000317314" "00139" "00426164" "00006" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Neurodevelopmental disorder with spasticity and poor growth" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000177962" "00177066" "1" "02552" "02552" "2018-08-17 14:00:24" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000180302" "00179399" "1" "00006" "00006" "2018-08-20 21:03:08" "" "" "SEQ" "DNA" "" "" "0000180303" "00179400" "1" "00006" "00006" "2018-08-20 21:03:08" "" "" "SEQ" "DNA" "" "" "0000180304" "00179401" "1" "00006" "00006" "2018-08-20 21:03:08" "" "" "SEQ" "DNA" "" "" "0000302868" "00301744" "1" "00006" "00006" "2020-05-22 17:54:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000302869" "00301745" "1" "00006" "00006" "2020-05-22 17:54:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000362763" "00361535" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000427484" "00426164" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000180302" "UFC1" "0000180303" "UFC1" "0000180304" "UFC1" "0000302868" "UFC1" "0000302869" "UFC1" "0000362763" "UFC1" ## 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 = 13 "{{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}}" "0000319471" "0" "50" "1" "161131870" "161131870" "subst" "0" "01943" "USP21_000001" "g.161131870C>T" "" "" "" "USP21(NM_001014443.3):c.643C>T (p.R215*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161162080C>T" "" "VUS" "" "0000400865" "3" "90" "1" "161123855" "161123855" "subst" "4.06075E-6" "02552" "UFC1_000001" "g.161123855G>A" "" "{PMID:Papuc 2019:30552426}, {PMID:Nahorski 2018:29868776}" "" "" "" "Germline" "yes" "" "0" "" "" "g.161154065G>A" "" "pathogenic" "" "0000403764" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Nahorski 2018:29868776}" "" "" "" "Germline" "yes" "" "0" "" "" "g.161157678C>T" "" "pathogenic (recessive)" "" "0000403765" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Nahorski 2018:29868776}" "" "" "" "Germline" "yes" "" "0" "" "" "g.161157678C>T" "" "pathogenic (recessive)" "" "0000403766" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Nahorski 2018:29868776}" "" "" "" "Germline" "yes" "" "0" "" "" "g.161157678C>T" "" "pathogenic (recessive)" "" "0000666225" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Maddirevula 20198:30237576}" "" "" "ACMG PS1, PS3, PM2, PP1" "Germline" "" "" "0" "" "" "g.161157678C>T" "" "pathogenic (recessive)" "ACMG" "0000666226" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Maddirevula 20198:30237576}" "" "" "ACMG PS1, PS3, PM2, PP1" "Germline" "" "" "0" "" "" "g.161157678C>T" "" "pathogenic (recessive)" "ACMG" "0000763137" "3" "90" "1" "161127468" "161127468" "subst" "0" "00006" "UFC1_000002" "g.161127468C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.161157678C>T" "" "pathogenic" "" "0000882878" "0" "50" "1" "161127952" "161127952" "subst" "0" "02329" "UFC1_000003" "g.161127952G>A" "" "" "" "UFC1(NM_016406.4):c.374G>A (p.W125*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904844" "3" "70" "1" "161126754" "161126756" "del" "0" "00006" "UFC1_000004" "g.161126754_161126756del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs1248346344" "0" "" "" "g.161156964_161156966del" "" "likely pathogenic (recessive)" "" "0000973425" "0" "50" "1" "161126743" "161126743" "subst" "8.12203E-6" "01804" "UFC1_000005" "g.161126743G>C" "" "" "" "UFC1(NM_016406.4):c.127G>C (p.(Val43Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973426" "0" "50" "1" "161127064" "161127064" "subst" "0" "01804" "UFC1_000006" "g.161127064A>G" "" "" "" "UFC1(NM_016406.4):c.212A>G (p.(Tyr71Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031407" "0" "50" "1" "161128211" "161128211" "subst" "8.12163E-6" "01804" "UFC1_000007" "g.161128211T>C" "" "" "" "UFC1(NM_016406.4):c.433T>C (p.(Trp145Arg))" "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 UFC1 ## Count = 13 "{{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}}" "0000319471" "00022326" "50" "4092" "0" "4092" "0" "c.*3588C>T" "r.(=)" "p.(=)" "" "0000400865" "00022326" "90" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Arg23Gln)" "" "0000403764" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000403765" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000403766" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000666225" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000666226" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000763137" "00022326" "90" "317" "0" "317" "0" "c.317C>T" "r.(?)" "p.(Thr106Ile)" "" "0000882878" "00022326" "50" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Trp125*)" "" "0000904844" "00022326" "70" "138" "0" "140" "0" "c.138_140del" "r.(?)" "p.(Asn46del)" "" "0000973425" "00022326" "50" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Val43Leu)" "" "0000973426" "00022326" "50" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Tyr71Cys)" "" "0001031407" "00022326" "50" "433" "0" "433" "0" "c.433T>C" "r.(?)" "p.(Trp145Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000177962" "0000400865" "0000180302" "0000403764" "0000180303" "0000403765" "0000180304" "0000403766" "0000302868" "0000666225" "0000302869" "0000666226" "0000362763" "0000763137" "0000427484" "0000904844"