### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = E4F1)
# 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}}"
"E4F1"	"E4F transcription factor 1"	"16"	"p13.3"	"unknown"	"NC_000016.9"	"UD_132438449948"	""	"https://www.LOVD.nl/E4F1"	""	"1"	"3121"	"1877"	"603022"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/E4F1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2024-09-23 10:31:28"	"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}}"
"00006824"	"E4F1"	"E4F transcription factor 1"	"001"	"NM_004424.3"	""	"NP_004415.2"	""	""	""	"-48"	"2525"	"2355"	"2273567"	"2285743"	""	"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}}"
"05534"	"mitochondrial"	"mitochondrial disorder"	""	""	""	"maternal mitochondrial"	""	"00006"	"2018-12-22 14:29:23"	""	""


## 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}}"
"00454645"	""	""	""	"2"	""	"00095"	"{PMID:Legati 2016:26968897}"	"2-generation family, 1 affected nd affected brother, unaffected heterozygous carrier parents"	"M"	"yes"	"Italy"	""	"0"	""	""	""	"NGSP91"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00454645"	"05534"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05534
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000343286"	"05534"	"00454645"	"00006"	"Familial, autosomal recessive"	""	"pshycomotor delay, microcephaly, hypoacusis, Leigh syndrome"	"<01y"	""	""	""	""	""	""	"pyruvate dehydrogenase complex deficiency"


## 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}}"
"0000456258"	"00454645"	"1"	"00095"	"00095"	"2024-09-23 09:56:45"	""	""	"SEQ-NG-I"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 8
"{{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}}"
"0000324490"	"0"	"50"	"16"	"2290104"	"2290104"	"subst"	"0.000838087"	"01804"	"ECI1_000001"	"g.2290104G>A"	""	""	""	"ECI1(NM_001178029.1):c.734C>T (p.(Thr245Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2240103G>A"	""	"VUS"	""
"0000557511"	"0"	"30"	"16"	"2283535"	"2283535"	"subst"	"0.000445979"	"01943"	"E4F1_000004"	"g.2283535G>A"	""	""	""	"E4F1(NM_004424.5):c.1153G>A (p.A385T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.2233534G>A"	""	"likely benign"	""
"0000557513"	"0"	"30"	"16"	"2287496"	"2287496"	"subst"	"0"	"01804"	"DNASE1L2_000004"	"g.2287496T>C"	""	""	""	"DNASE1L2(NM_001374.2):c.437T>C (p.(Leu146Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2237495T>C"	""	"likely benign"	""
"0000557514"	"0"	"30"	"16"	"2287501"	"2287501"	"subst"	"0"	"01804"	"DNASE1L2_000005"	"g.2287501T>C"	""	""	""	"DNASE1L2(NM_001374.2):c.442T>C (p.(Ser148Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2237500T>C"	""	"likely benign"	""
"0000557516"	"0"	"30"	"16"	"2287505"	"2287518"	"del"	"0"	"01804"	"DNASE1L2_000007"	"g.2287505_2287518del"	""	""	""	"DNASE1L2(NM_001374.2):c.446_459del (p.(Arg149ProfsTer73))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2237504_2237517del"	""	"likely benign"	""
"0000557517"	"0"	"30"	"16"	"2287512"	"2287512"	"subst"	"0"	"01943"	"DNASE1L2_000008"	"g.2287512T>C"	""	""	""	"DNASE1L2(NM_001374.3):c.453T>C (p.A151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.2237511T>C"	""	"likely benign"	""
"0001008483"	"3"	"90"	"16"	"2282186"	"2282186"	"subst"	"4.10853E-6"	"00095"	"E4F1_000005"	"g.2282186A>C"	""	"{PMID:Legati 2016:26968897}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.2232185A>C"	""	"likely pathogenic (recessive)"	"ACMG"
"0001040958"	"0"	"30"	"16"	"2289962"	"2289963"	"del"	"0"	"01804"	"DNASE1L2_000009"	"g.2289962_2289963del"	""	""	""	"ABCA3(NM_001089.3):c.2514-343_2514-342del"	"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 E4F1
## Count = 8
"{{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}}"
"0000324490"	"00006824"	"50"	"6886"	"0"	"6886"	"0"	"c.*4531G>A"	"r.(=)"	"p.(=)"	""
"0000557511"	"00006824"	"30"	"1153"	"0"	"1153"	"0"	"c.1153G>A"	"r.(?)"	"p.(Ala385Thr)"	""
"0000557513"	"00006824"	"30"	"4278"	"0"	"4278"	"0"	"c.*1923T>C"	"r.(=)"	"p.(=)"	""
"0000557514"	"00006824"	"30"	"4283"	"0"	"4283"	"0"	"c.*1928T>C"	"r.(=)"	"p.(=)"	""
"0000557516"	"00006824"	"30"	"4287"	"0"	"4300"	"0"	"c.*1932_*1945del"	"r.(=)"	"p.(=)"	""
"0000557517"	"00006824"	"30"	"4294"	"0"	"4294"	"0"	"c.*1939T>C"	"r.(=)"	"p.(=)"	""
"0001008483"	"00006824"	"90"	"430"	"0"	"430"	"0"	"c.430A>C"	"r.(?)"	"p.(Lys144Gln)"	""
"0001040958"	"00006824"	"30"	"6744"	"0"	"6745"	"0"	"c.*4389_*4390del"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000456258"	"0001008483"