POU2AF3 POU class 2 homeobox associating factor 3

Information
Symbol
POU2AF3
Type
protein-coding
Description
POU class 2 homeobox associating factor 3
Entrez Gene ID
120376
Genome
hg19
Position
chr11:111,169,271-111,179,460
Genome
hg38
Position
chr11:111,298,546-111,308,735
MIM
615694 OMIM
HGNC
HGNC:26978 HGNC
Ensembl
ENSG00000214290 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 18
Ranking
ClinVar
0
0
0
22
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
SYNONYM C11orf93
SYNONYM CASC13
SYNONYM COLCA2
SYNONYM LOH11CR1G
SYNONYM OCA-T2
MIM 615694 OMIM
HGNC HGNC:26978 HGNC
Ensembl ENSG00000214290 Ensembl
AllianceGenome HGNC:26978
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000526216.1 hg38 chr11 111,299,733 111,308,735 9,003
ENST00000398035.6 hg38 chr11 111,299,251 111,308,628 9,378
ENST00000614153.4 hg38 chr11 111,298,840 111,308,733 9,894
ENST00000610738.6 hg38 chr11 111,298,546 111,308,735 10,190
ENST00000638573.1 hg38 chr11 111,298,555 111,308,629 10,075
ENST00000610738.6 hg19 chr11 111,169,271 111,179,460 10,190
ENST00000638573.1 hg19 chr11 111,169,280 111,179,354 10,075
ENST00000614153.4 hg19 chr11 111,169,565 111,179,458 9,894
ENST00000398035.6 hg19 chr11 111,169,976 111,179,353 9,378
ENST00000526216.1 hg19 chr11 111,170,458 111,179,460 9,003
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