SPDEF SAM pointed domain containing ETS transcription factor

Information
Symbol
SPDEF
Type
protein-coding
Description
SAM pointed domain containing ETS transcription factor
Entrez Gene ID
25803
Genome
hg19
Position
chr6:34,505,579-34,524,106
Genome
hg38
Position
chr6:34,537,802-34,556,329
MIM
608144 OMIM
HGNC
HGNC:17257 HGNC
Ensembl
ENSG00000124664 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
Uncertain significance 0 42
Ranking
ClinVar
0
0
0
50
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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 PDEF
SYNONYM bA375E1.3
MIM 608144 OMIM
HGNC HGNC:17257 HGNC
Ensembl ENSG00000124664 Ensembl
AllianceGenome HGNC:17257
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000374037.8 hg38 chr6 34,537,802 34,556,329 18,528
ENST00000544425.2 hg38 chr6 34,537,802 34,556,333 18,532
ENST00000374037.8 hg19 chr6 34,505,579 34,524,106 18,528
ENST00000544425.2 hg19 chr6 34,505,579 34,524,110 18,532
Genome browser