TFE3 transcription factor binding to IGHM enhancer 3

Information
Symbol
TFE3
Type
protein-coding
Description
transcription factor binding to IGHM enhancer 3
Entrez Gene ID
7030
Genome
hg19
Position
chrX:48,886,237-48,900,883
Genome
hg38
Position
chrX:49,028,726-49,043,357
MIM
314310 OMIM
HGNC
HGNC:11752 HGNC
Ensembl
ENSG00000068323 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 16
Benign 0 4
Likely benign 0 36
not provided 9 0
Uncertain significance 0 80
Ranking
ClinVar
0
0
4
134
12
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 MRXSPF
SYNONYM RCCP2
SYNONYM RCCX1
SYNONYM TFEA
SYNONYM bHLHe33
MIM 314310 OMIM
HGNC HGNC:11752 HGNC
Ensembl ENSG00000068323 Ensembl
AllianceGenome HGNC:11752
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315869.8 hg38 chrX 49,028,726 49,043,357 14,632
ENST00000315869.8 hg19 chrX 48,886,237 48,900,883 14,647
KeyValue
strand-
UniProtOG
start48,886,237
Gene SymbolTFE3
Entrez GeneId7,030
Chr BandXp11.22
end48,901,042
chrchrX
Nametranscription factor binding to IGHM enhancer 3
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