ENST00000530641.5 PIH1D2

Information
Transcript ID
ENST00000530641.5
Genome
hg19
Position
chr11:111,940,461-111,944,998
Strand
-
CDS length
822
Amino acid length
274
Gene symbol
PIH1D2
Gene type
protein-coding
Gene description
PIH1 domain containing 2
Gene Entrez Gene ID
120379
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
5 111,940,461 111,941,425
4 111,941,762 111,942,007
3 111,942,359 111,942,482
2 111,943,722 111,943,929
1 111,944,704 111,944,998
CDS
Exon number Type Start Stop
5 CDS 111,941,151 111,941,425
4 CDS 111,941,762 111,942,007
3 CDS 111,942,359 111,942,482
2 CDS 111,943,722 111,943,898
Other genome
Genome Chromosome Start End Links
hg38 chr11 112,069,737 112,074,274 Link
CDS sequence
ATGGAGACATCCTCAAAAGGTCTGCTTACCCAAGTTACTCAGTTTTGGAACCTCCTAGATGATCTAGCTCAGAGTGACCCTGAGGGCTATGAGAAGTTTATTCAGCAGCAGCTGAAAGAAGGGAAACAGCTCTGTGCTGCCCCAGAACCACAGCTTTGTCTACAGACCAGGATTCTGAAACCAAAAGAAAAAATACTTTTTATCAACCTGTGTCAGTGGACAAGGATCCCAGCTCCCCAATCAACCACTCATCCAGTACCTCTAACTGTTGGCAAACCAGAAGATACAACTGAGATATCAGATGCTTACACAGTCATTGATGTTGCCTACAATCCTGATGTTCTTCATGCAGCAGAAAAGGACCAAGTGAAAAAAAATCAGTTAATTCAGATGGCCATGAAATGCATTGAGGAGAAATTCCAGTTCACCCTCTCACACTCTTACCATATTACCAAATTTAGAATAAAAGGAAGCATTCAAAGAATGAAACAAAATCTGATGGGAATCCAAACTGATTCCATAGATTTAAGAGAAAAAATGAGAAGGGAACTAACTCTTGGACAGATACGAAGCAGTACTATGAGCAATCCAGATCACTTTCCTCAACTGTTACTGCCAAAAGACCAAGTTTCAGGCAAAGCAGTGTGTCTGATAGAAGAGATTTCCAGTACTGAAATCCAGGTGGAGATGAAGATGCCAGCCTATGAACTAAAAATTGTGCATGATCACAGTGAGAAACCTCTGAAAATTGAGTTGAAAGTTGAATTACCTGGTATTAATTCTGTCTCTCTCTGTGACCTTAGTGTTTCTGAGGTAAGTTGA
Amino sequence
METSSKGLLTQVTQFWNLLDDLAQSDPEGYEKFIQQQLKEGKQLCAAPEPQLCLQTRILKPKEKILFINLCQWTRIPAPQSTTHPVPLTVGKPEDTTEISDAYTVIDVAYNPDVLHAAEKDQVKKNQLIQMAMKCIEEKFQFTLSHSYHITKFRIKGSIQRMKQNLMGIQTDSIDLREKMRRELTLGQIRSSTMSNPDHFPQLLLPKDQVSGKAVCLIEEISSTEIQVEMKMPAYELKIVHDHSEKPLKIELKVELPGINSVSLCDLSVSEVS*