FANCE FA complementation group E

Information
Symbol
FANCE
Type
protein-coding
Description
FA complementation group E
Entrez Gene ID
2178
Genome
hg19
Position
chr6:35,420,115-35,434,879
Genome
hg38
Position
chr6:35,452,338-35,467,102
MIM
613976 OMIM
HGNC
HGNC:3586 HGNC
Ensembl
ENSG00000112039 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 76
Likely pathogenic 0 82
Benign 0 56
Likely benign 0 562
Conflicting classifications of pathogenicity 0 62
not provided 0 4
Uncertain significance 9 586
Ranking
ClinVar
0
0
266
1,028
20
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM FACE
SYNONYM FAE
MIM 613976 OMIM
HGNC HGNC:3586 HGNC
Ensembl ENSG00000112039 Ensembl
AllianceGenome HGNC:3586
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000229769.3 hg38 chr6 35,452,338 35,467,102 14,765
ENST00000696264.1 hg38 chr6 35,452,546 35,467,064 14,519
ENST00000229769.3 hg19 chr6 35,420,115 35,434,879 14,765
ENST00000696264.1 hg19 chr6 35,420,323 35,434,841 14,519
KeyValue
strand+
start35,420,137
Gene SymbolFANCE
Entrez GeneId2,178
Chr Band6p21-p22
end35,434,880
chrchr6
NameFanconi anemia, complementation group E
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