SP6 Sp6 transcription factor

Information
Symbol
SP6
Type
protein-coding
Description
Sp6 transcription factor
Entrez Gene ID
80320
Genome
hg19
Position
chr17:45,922,274-45,928,529
Genome
hg38
Position
chr17:47,844,908-47,851,163
MIM
608613 OMIM
HGNC
HGNC:14530 HGNC
Ensembl
ENSG00000189120 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
4
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 :
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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 AI1K
SYNONYM EPFN
SYNONYM EPIPROFIN
SYNONYM KLF14
MIM 608613 OMIM
HGNC HGNC:14530 HGNC
Ensembl ENSG00000189120 Ensembl
AllianceGenome HGNC:14530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000536300.2 hg38 chr17 47,844,908 47,851,163 6,256
ENST00000342234.3 hg38 chr17 47,844,908 47,855,874 10,967
ENST00000536300.2 hg19 chr17 45,922,274 45,928,529 6,256
ENST00000342234.3 hg19 chr17 45,922,274 45,933,240 10,967
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