ENST00000393939.6 HAP1

Information
Transcript ID
ENST00000393939.6
Genome
hg38
Position
chr17:41,720,813-41,734,644
Strand
-
CDS length
1,785
Amino acid length
595
Gene symbol
HAP1
Gene type
protein-coding
Gene description
huntingtin associated protein 1
Gene Entrez Gene ID
9001
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
Search Word
Target data :
MGeND data only
Category :
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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
Search Word
Target data :
MGeND data only
Category :
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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
10 41,720,813 41,725,154
9 41,725,859 41,725,897
8 41,727,053 41,727,144
7 41,728,201 41,728,331
6 41,731,493 41,731,559
5 41,731,638 41,731,743
4 41,731,937 41,732,118
3 41,732,230 41,732,394
2 41,732,719 41,732,798
1 41,734,166 41,734,644
CDS
Exon number Type Start Stop
10 CDS 41,724,701 41,725,154
9 CDS 41,725,859 41,725,897
8 CDS 41,727,053 41,727,144
7 CDS 41,728,201 41,728,331
6 CDS 41,731,493 41,731,559
5 CDS 41,731,638 41,731,743
4 CDS 41,731,937 41,732,118
3 CDS 41,732,230 41,732,394
2 CDS 41,732,719 41,732,798
1 CDS 41,734,166 41,734,634
Other genome
Genome Chromosome Start End Links
hg19 chr17 39,877,065 39,890,896 Link
CDS sequence
ATGCGCCCGAAGAGGTTGGGCCGGTGCTGCGCGGGGAGCCGGCTCGGACCCGGGGACCCAGCAGCACTCACCTGTGCACCTTCGCCCTCAGCCAGTCCCGCTCCGGAGCCCTCTGCGCAGCCGCAGGCACGGGGCACTGGACAGAGAGTAGGATCCCGAGCCACCTCTGGATCCCAGTTCCTCTCGGAAGCCCGCACCGGAGCTCGCCCGGCCTCGGAGGCTGGAGCCAAGGCAGGAGCCCGGCGCCCGTCCGCATTCTCGGCCATCCAAGGGGATGTCCGGTCTATGCCCGACAATTCGGACGCGCCGTGGACCCGCTTCGTATTCCAAGGGCCGTTTGGTTCCCGGGCCACTGGCCGGGGGACTGGAAAGGCAGCGGGCATCTGGAAGACGCCAGCCGCCTACGTTGGCCGGCGACCCGGGGTGTCCGGCCCTGAGCGCGCCGCCTTTATTCGGGAGCTGGAGGAAGCACTGTGTCCTAACCTACCTCCGCCAGTCAAAAAGATCACCCAGGAAGACGTCAAAGTGATGTTATATTTGCTGGAGGAGCTTCTCCCACCTGTCTGGGAGAGCGTTACCTATGGGATGGTCCTGCAGAGAGAGAGGGACCTGAACACTGCAGCTCGCATCGGCCAGTCCCTGGTGAAACAGAACAGTGTTTTGATGGAGGAGAACAGCAAGCTGGAAGCCCTGCTGGGCTCAGCCAAGGAGGAGATTTTATACCTCAGACACCAGGTGAACTTGCGGGATGAGCTCCTCCAGCTCTACTCAGATTCTGATGAGGAGGATGAGGATGAAGAAGAGGAGGAGGAAGAAAAGGAGGCAGAAGAGGAACAGGAAGAAGAAGAAGCAGAGGAAGACCTGCAGTGTGCTCATCCCTGTGATGCCCCTAAGCTGATTTCGCAGGAGGCATTGCTGCACCAGCACCACTGCCCACAGCTGGAAGCCTTGCAGGAGAAGCTGAGGCTGCTGGAGGAGGAGAATCATCAGCTGAGAGAAGAGGCCTCTCAACTCGACACTCTTGAGGATGAGGAACAGATGCTCATTCTGGAGTGTGTGGAGCAGTTTTCGGAGGCCAGCCAACAGATGGCTGAGCTGTCGGAGGTGCTGGTGCTCAGGCTGGAAAACTATGAACGGCAGCAGCAGGAGGTCGCTCGGCTGCAGGCCCAGGTGCTGAAGCTGCAGCAGCGCTGCCGGATGGAGACTCTTCCTGGTTTCCAGGAGACGCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCTCAGACCCTGTGTATTTTATGGAGAGGAATTATGAGATGCCCAGAGGGGACACATCCAGCCTAAGGTATGATTTTCGCTACAGTGAGGATCGAGAGCAGGTGCGGGGGTTTGAGGCTGAGGAAGGGTTGATGCTGGCAGCGGATATCATGCGGGGGGAAGATTTCACGCCTGCGGAGGAGTTCGTGCCCCAGGAGGAGCTGGGGGCTGCCAAGAAGGTGCCGGCTGAGGAAGGGGTGATGGAAGAGGCAGAGCTGGTGTCAGAGGAGACCGAGGGCTGGGAGGAGGTGGAACTGGAGCTGGATGAGGCAACGCGGATGAACGTGGTGACATCAGCCCTGGAGGCCAGCGGCTTGGGCCCTTCACACCTGGACATGAATTATGTCCTCCAGCAGCTGGCCAACTGGCAAGATGCCCATTACAGGCGGCAGCTGAGGTGGAAGATGCTCCAGAAAGGTGAGTGCCCCCACGGGGCCCTCCCTGCCGCCAGCCGGACAAGCTGCAGATCGTCGTGCCGATGA
Amino sequence
MRPKRLGRCCAGSRLGPGDPAALTCAPSPSASPAPEPSAQPQARGTGQRVGSRATSGSQFLSEARTGARPASEAGAKAGARRPSAFSAIQGDVRSMPDNSDAPWTRFVFQGPFGSRATGRGTGKAAGIWKTPAAYVGRRPGVSGPERAAFIRELEEALCPNLPPPVKKITQEDVKVMLYLLEELLPPVWESVTYGMVLQRERDLNTAARIGQSLVKQNSVLMEENSKLEALLGSAKEEILYLRHQVNLRDELLQLYSDSDEEDEDEEEEEEEKEAEEEQEEEEAEEDLQCAHPCDAPKLISQEALLHQHHCPQLEALQEKLRLLEEENHQLREEASQLDTLEDEEQMLILECVEQFSEASQQMAELSEVLVLRLENYERQQQEVARLQAQVLKLQQRCRMETLPGFQETLAEELRTSLRRMISDPVYFMERNYEMPRGDTSSLRYDFRYSEDREQVRGFEAEEGLMLAADIMRGEDFTPAEEFVPQEELGAAKKVPAEEGVMEEAELVSEETEGWEEVELELDEATRMNVVTSALEASGLGPSHLDMNYVLQQLANWQDAHYRRQLRWKMLQKGECPHGALPAASRTSCRSSCR*