ENST00000644743.1 PITX2

Information
Transcript ID
ENST00000644743.1
Genome
hg19
Position
chr4:111,538,579-111,544,233
Strand
-
CDS length
975
Amino acid length
325
Gene symbol
PITX2
Gene type
protein-coding
Gene description
paired like homeodomain 2
Gene Entrez Gene ID
5308
Variants

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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
3 111,538,579 111,539,844
2 111,542,320 111,542,525
1 111,543,412 111,544,233
CDS
Exon number Type Start Stop
3 CDS 111,539,281 111,539,844
2 CDS 111,542,320 111,542,525
1 CDS 111,543,412 111,543,616
Other genome
Genome Chromosome Start End Links
hg38 chr4 110,617,423 110,623,077 Link
CDS sequence
ATGAACTGCATGAAAGGCCCGCTTCACTTGGAGCACCGAGCAGCGGGGACCAAGCTGTCGGCCGTCTCCTCATCTTCCTGTCACCATCCCCAGCCGTTAGCCATGGCTTCGGTTCTGGCTCCCGGTCAGCCCCGGTCGCTGGACTCCTCCAAGCACAGGCTGGAGGTGCACACCATCTCCGACACCTCCAGCCCGGAGGCCGCAGAGAAAGATAAAAGCCAGCAGGGGAAGAATGAGGACGTGGGCGCCGAGGACCCGTCTAAGAAGAAGCGGCAAAGGCGGCAGCGGACTCACTTTACCAGCCAGCAGCTCCAGGAGCTGGAGGCCACTTTCCAGAGGAACCGCTACCCGGACATGTCCACACGCGAAGAAATCGCTGTGTGGACCAACCTTACGGAAGCCCGAGTCCGGGTTTGGTTCAAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCAAGAATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAGGCTATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGAGCTTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCCCACCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAGGCGTCCCGGGCTCCAGTCTCAACAGCCTGAATAACTTGAACAACCTGAGTAGCCCGTCGCTGAATTCCGCGGTGCCGACGCCTGCCTGTCCTTACGCGCCGCCGACTCCTCCGTATGTTTATAGGGACACGTGTAACTCGAGCCTGGCCAGCCTGAGACTGAAAGCAAAGCAGCACTCCAGCTTCGGCTACGCCAGCGTGCAGAACCCGGCCTCCAACCTGAGTGCTTGCCAGTATGCAGTGGACCGGCCCGTGTGA
Amino sequence
MNCMKGPLHLEHRAAGTKLSAVSSSSCHHPQPLAMASVLAPGQPRSLDSSKHRLEVHTISDTSSPEAAEKDKSQQGKNEDVGAEDPSKKKRQRRQRTHFTSQQLQELEATFQRNRYPDMSTREEIAVWTNLTEARVRVWFKNRRAKWRKRERNQQAELCKNGFGPQFNGLMQPYDDMYPGYSYNNWAAKGLTSASLSTKSFPFFNSMNVNPLSSQSMFSPPNSISSMSMSSSMVPSAVTGVPGSSLNSLNNLNNLSSPSLNSAVPTPACPYAPPTPPYVYRDTCNSSLASLRLKAKQHSSFGYASVQNPASNLSACQYAVDRPV*