OTX1 orthodenticle homeobox 1

Information
Symbol
OTX1
Type
protein-coding
Description
orthodenticle homeobox 1
Entrez Gene ID
5013
Genome
hg19
Position
chr2:63,277,192-63,284,971
Genome
hg38
Position
chr2:63,050,057-63,057,836
MIM
600036 OMIM
HGNC
HGNC:8521 HGNC
Ensembl
ENSG00000115507 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
4
20
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 600036 OMIM
HGNC HGNC:8521 HGNC
Ensembl ENSG00000115507 Ensembl
AllianceGenome HGNC:8521
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000366671.7 hg38 chr2 63,050,057 63,057,836 7,780
ENST00000282549.7 hg38 chr2 63,050,830 63,057,831 7,002
ENST00000366671.7 hg19 chr2 63,277,192 63,284,971 7,780
ENST00000282549.7 hg19 chr2 63,277,965 63,284,966 7,002
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