ENST00000613094.5 PITX2

Information
Transcript ID
ENST00000613094.5
Genome
hg19
Position
chr4:111,538,592-111,558,182
Strand
-
CDS length
525
Amino acid length
175
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
4 111,538,592 111,539,844
3 111,553,499 111,553,636
2 111,554,109 111,554,164
1 111,557,937 111,558,182
CDS
Exon number Type Start Stop
4 CDS 111,539,504 111,539,844
3 CDS 111,553,499 111,553,636
2 CDS 111,554,109 111,554,154
Other genome
Genome Chromosome Start End Links
hg38 chr4 110,617,436 110,637,026 Link
CDS sequence
ATGGAGACCAACTGCCGCAAACTGGTGTCGGCGTGTGTGCAATTAGGCGTGCAGCCGGCGGCCGTTGAATGTCTCTTCTCCAAAGACTCCGAAATCAAAAAGGTCGAGTTCACGGACTCTCCTGAGAGCCGAAAAGAGGCAGCCAGCAGCAAGTTCTTCCCGCGGCAGCATCCTGGCGCCAATGGTTTGGTTCAAGAATCGTCGGGCCAAATGGAGAAAGAGGGAGCGCAACCAGCAGGCCGAGCTATGCAAGAATGGCTTCGGGCCGCAGTTCAATGGGCTCATGCAGCCCTACGACGACATGTACCCAGGCTATTCCTACAACAACTGGGCCGCCAAGGGCCTTACATCCGCCTCCCTATCCACCAAGAGCTTCCCCTTCTTCAACTCTATGAACGTCAACCCCCTGTCATCACAGAGCATGTTTTCCCCACCCAACTCTATCTCGTCCATGAGCATGTCGTCCAGCATGGTGCCCTCAGCAGTGACAGGCGTCCCGGGCTCCAGTCTCAACAGCCTGAATAA
Amino sequence
METNCRKLVSACVQLGVQPAAVECLFSKDSEIKKVEFTDSPESRKEAASSKFFPRQHPGANGLVQESSGQMEKEGAQPAGRAMQEWLRAAVQWAHAALRRHVPRLFLQQLGRQGPYIRLPIHQELPLLQLYERQPPVITEHVFPTQLYLVHEHVVQHGALSSDRRPGLQSQQPE*