ETV6 ETS variant transcription factor 6

Information
Symbol
ETV6
Type
protein-coding
Description
ETS variant transcription factor 6
Entrez Gene ID
2120
Genome
hg19
Position
chr12:11,802,608-12,048,311
Genome
hg38
Position
chr12:11,649,674-11,895,377
MIM
600618 OMIM
HGNC
HGNC:3495 HGNC
Ensembl
ENSG00000139083 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 3 22
Likely pathogenic 0 40
Benign 0 106
Likely benign 0 232
Conflicting classifications of pathogenicity 0 16
not provided 71 0
Uncertain significance 0 282
Ranking
ClinVar
0
0
110
530
14
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 TEL
SYNONYM TEL/ABL
SYNONYM THC5
MIM 600618 OMIM
HGNC HGNC:3495 HGNC
Ensembl ENSG00000139083 Ensembl
AllianceGenome HGNC:3495
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396373.9 hg38 chr12 11,649,674 11,895,377 245,704
ENST00000396373.9 hg19 chr12 11,802,608 12,048,311 245,704
KeyValue
strand+
UniProtOG
start11,802,787
Gene SymbolETV6
Entrez GeneId2,120
Chr Band12p13
end12,048,324
chrchr12
Nameets variant gene 6 (TEL oncogene)
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