SIX1 SIX homeobox 1

Information
Symbol
SIX1
Type
protein-coding
Description
SIX homeobox 1
Entrez Gene ID
6495
Genome
hg19
Position
chr14:61,110,139-61,116,195
Genome
hg38
Position
chr14:60,643,421-60,649,477
MIM
601205 OMIM
HGNC
HGNC:10887 HGNC
Ensembl
ENSG00000126778 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 14
Likely pathogenic 2 28
Benign 0 48
Likely benign 0 118
Conflicting classifications of pathogenicity 0 20
not provided 0 6
Uncertain significance 0 180
Ranking
ClinVar
0
0
52
298
8
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 BOS3
SYNONYM DFNA23
SYNONYM TIP39
MIM 601205 OMIM
HGNC HGNC:10887 HGNC
Ensembl ENSG00000126778 Ensembl
AllianceGenome HGNC:10887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000645694.3 hg38 chr14 60,643,421 60,649,477 6,057
ENST00000554986.2 hg38 chr14 60,644,696 60,658,259 13,564
ENST00000645694.3 hg19 chr14 61,110,139 61,116,195 6,057
ENST00000554986.2 hg19 chr14 61,111,414 61,124,977 13,564
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