ENST00000557119.2 PITX2

Information
Transcript ID
ENST00000557119.2
Genome
hg19
Position
chr4:111,541,433-111,544,207
Strand
-
CDS length
795
Amino acid length
265
Gene symbol
PITX2
Gene type
protein-coding
Gene description
paired like homeodomain 2
Gene Entrez Gene ID
5308
Variants

Display target variant


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Target data :
MGeND data only
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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
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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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
Exon
Exon number Start Stop
2 111,541,433 111,542,525
1 111,543,412 111,544,207
CDS
Exon number Type Start Stop
2 CDS 111,541,936 111,542,525
1 CDS 111,543,412 111,543,616
Other genome
Genome Chromosome Start End Links
hg38 chr4 110,620,277 110,623,051 Link
CDS sequence
ATGAACTGCATGAAAGGCCCGCTTCACTTGGAGCACCGAGCAGCGGGGACCAAGCTGTCGGCCGTCTCCTCATCTTCCTGTCACCATCCCCAGCCGTTAGCCATGGCTTCGGTTCTGGCTCCCGGTCAGCCCCGGTCGCTGGACTCCTCCAAGCACAGGCTGGAGGTGCACACCATCTCCGACACCTCCAGCCCGGAGGCCGCAGAGAAAGATAAAAGCCAGCAGGGGAAGAATGAGGACGTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTACCAGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGGGTAGGAGCCAGCACGGAGTCTGGGAGGGATGGGGGGAGGATGTTGTGGAGGTACAGGCCAAGTAGACCAGGAGAGAATGTGGAAGGCAGCGCCGCCTGGGAGGGCGCCGGTGGGGCGCAGCTTTGCAAAGGCAGAAGGCCTCGCGGCGGCCTGGTTGCGAGATTACAGTTCCCTCTCCGAGGCCGACAGGACTGCCGCCCTGGCTCAGGCTCCCAGAGCGGCACCGGCTCACTGCCCCGCCATCCCGCGATCTCACGAGCTGGGCTGCATGGGCAATCCCCTGCACAGGACATTGTGTTCCTGGCTTGCAGTTGCCAGAGCAGAGCTAATAAAATCCCTACCAGGCCAAGAGCCGCGAACAGGCTCCAACCTGTGAGCCTTTAA
Amino sequence
MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVGASTESGRDGGRMLWRYRPSRPGENVEGSAAWEGAGGAQLCKGRRPRGGLVARLQFPLRGRQDCRPGSGSQSGTGSLPRHPAISRAGLHGQSPAQDIVFLACSCQSRANKIPTRPRAANRLQPVSL*