SP7 Sp7 transcription factor

Information
Symbol
SP7
Type
protein-coding
Description
Sp7 transcription factor
Entrez Gene ID
121340
Genome
hg19
Position
chr12:53,720,359-53,730,138
Genome
hg38
Position
chr12:53,326,575-53,336,354
MIM
606633 OMIM
HGNC
HGNC:17321 HGNC
Ensembl
ENSG00000170374 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 2
Benign 0 22
Likely benign 0 98
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 142
Ranking
ClinVar
0
0
42
218
6
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 OI11
SYNONYM OI12
SYNONYM OSX
SYNONYM osterix
MIM 606633 OMIM
HGNC HGNC:17321 HGNC
Ensembl ENSG00000170374 Ensembl
AllianceGenome HGNC:17321
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000303846.3 hg38 chr12 53,326,579 53,335,754 9,176
ENST00000536324.4 hg38 chr12 53,326,575 53,336,354 9,780
ENST00000537210.2 hg38 chr12 53,328,146 53,336,342 8,197
ENST00000536324.4 hg19 chr12 53,720,359 53,730,138 9,780
ENST00000303846.3 hg19 chr12 53,720,363 53,729,538 9,176
ENST00000537210.2 hg19 chr12 53,721,930 53,730,126 8,197
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