SP1 Sp1 transcription factor

Information
Symbol
SP1
Type
protein-coding
Description
Sp1 transcription factor
Entrez Gene ID
6667
Genome
hg19
Position
chr12:53,773,960-53,810,230
Genome
hg38
Position
chr12:53,380,176-53,416,446
MIM
189906 OMIM
HGNC
HGNC:11205 HGNC
Ensembl
ENSG00000185591 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
76
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
MIM 189906 OMIM
HGNC HGNC:11205 HGNC
Ensembl ENSG00000185591 Ensembl
AllianceGenome HGNC:11205
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000426431.2 hg38 chr12 53,380,639 53,416,446 35,808
ENST00000327443.9 hg38 chr12 53,380,176 53,416,446 36,271
ENST00000327443.9 hg19 chr12 53,773,960 53,810,230 36,271
ENST00000426431.2 hg19 chr12 53,774,423 53,810,230 35,808
Genome browser