PITX2 paired like homeodomain 2

Information
Symbol
PITX2
Type
protein-coding
Description
paired like homeodomain 2
Entrez Gene ID
5308
Genome
hg19
Position
chr4:111,538,579-111,544,233
Genome
hg38
Position
chr4:110,617,423-110,623,077
MIM
601542 OMIM
HGNC
HGNC:9005 HGNC
Ensembl
ENSG00000164093 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 108
Likely pathogenic 1 30
Benign 2 74
Likely benign 0 70
Conflicting classifications of pathogenicity 0 24
Uncertain significance 0 148
Ranking
ClinVar
0
0
48
308
40
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 ARP1
SYNONYM ASGD4
SYNONYM Brx1
SYNONYM IDG2
SYNONYM IGDS
SYNONYM IGDS2
SYNONYM IHG2
SYNONYM IRID2
SYNONYM Otlx2
SYNONYM PTX2
SYNONYM RGS
SYNONYM RIEG
SYNONYM RIEG1
SYNONYM RS
MIM 601542 OMIM
HGNC HGNC:9005 HGNC
Ensembl ENSG00000164093 Ensembl
AllianceGenome HGNC:9005
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000644743.1 hg38 chr4 110,617,423 110,623,077 5,655
ENST00000613094.5 hg38 chr4 110,617,436 110,637,026 19,591
ENST00000557119.2 hg38 chr4 110,620,277 110,623,051 2,775
ENST00000394595.8 hg38 chr4 110,617,423 110,637,011 19,589
ENST00000354925.6 hg38 chr4 110,617,426 110,642,006 24,581
ENST00000614423.5 hg38 chr4 110,617,424 110,623,125 5,702
ENST00000355080.9 hg38 chr4 110,617,423 110,637,352 19,930
ENST00000644743.1 hg19 chr4 111,538,579 111,544,233 5,655
ENST00000394595.8 hg19 chr4 111,538,579 111,558,167 19,589
ENST00000355080.9 hg19 chr4 111,538,579 111,558,508 19,930
ENST00000614423.5 hg19 chr4 111,538,580 111,544,281 5,702
ENST00000354925.6 hg19 chr4 111,538,582 111,563,162 24,581
ENST00000613094.5 hg19 chr4 111,538,592 111,558,182 19,591
ENST00000557119.2 hg19 chr4 111,541,433 111,544,207 2,775
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