ENST00000614341.5 USH1G

Information
Transcript ID
ENST00000614341.5
Genome
hg19
Position
chr17:72,912,175-72,919,350
Strand
-
CDS length
1,386
Amino acid length
462
Gene symbol
USH1G
Gene type
protein-coding
Gene description
USH1 protein network component sans
Gene Entrez Gene ID
124590
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 72,912,175 72,913,088
4 72,913,091 72,913,796
3 72,913,798 72,914,171
2 72,915,549 72,916,766
1 72,919,005 72,919,350
CDS
Exon number Type Start Stop
3 CDS 72,914,168 72,914,171
2 CDS 72,915,549 72,916,766
1 CDS 72,919,005 72,919,168
Other genome
Genome Chromosome Start End Links
hg38 chr17 74,916,083 74,923,255 Link
CDS sequence
ATGAACGACCAGTACCACCGGGCAGCCCGGGATGGCTACCTGGAGCTCCTCAAGGAGGCCACCCGAAAGGAGCTGAATGCCCCCGACGAGGATGGCATGACCCCCACTCTCTGGGCTGCCTACCATGGCAACCTCGAGTCGCTGCGTCTCATTGTGAGCCGCGGGGGTGACCCGGACAAGTGTGACATCTGGGGCAACACACCCCTGCATCTGGCAGCTTCCAATGGCCACTTGCACTGCCTGTCCTTCCTGGTGTCCTTCGGAGCCAACATCTGGTGCCTAGACAACGACTACCACACGCCGCTGGACATGGCTGCCATGAAGGGCCACATGGAATGCGTGCGCTACCTGGACTCCATCGCGGCCAAGCAGAGCAGCCTCAACCCCAAGCTGGTGGGTAAGCTGAAGGACAAGGCCTTCCGCGAGGCGGAGCGGCGCATCCGCGAGTGCGCCAAGCTGCAGCGGAGGCACCACGAACGCATGGAGCGGCGATACCGGCGCGAGCTGGCCGAGCGTTCCGACACCCTCAGCTTCTCCAGCCTCACGTCCAGCACCCTGAGCCGCCGGCTGCAGCATCTGGCGCTGGGCAGCCACCTGCCGTACTCTCAGGCCACGCTGCACGGCACGGCCAGGGGCAAGACCAAGATGCAGAAGAAGCTGGAGCGGCGCAAGCAGGGCGGCGAAGGCACCTTCAAGGTCTCCGAGGATGGGCGCAAGAGCGCCCGCTCGCTCTCGGGCCTGCAGCTGGGCAGCGACGTGATGTTCGTGCGCCAGGGCACCTACGCCAATCCCAAGGAGTGGGGCCGAGCCCCGCTCCGGGACATGTTCCTCTCGGACGAGGACAGCGTCTCCCGTGCCACGCTGGCGGCCGAGCCTGCCCACTCGGAGGTCAGCACCGACTCAGGCCACGACTCCCTGTTTACCCGCCCCGGCCTGGGCACCATGGTGTTCCGCAGAAATTACTTGAGCAGTGGGCTGCACGGACTGGGCCGCGAGGATGGGGGTCTGGATGGGGTGGGAGCGCCGCGGGGTCGGCTGCAGAGCTCCCCCAGCCTGGACGATGACAGCCTGGGCAGTGCCAACAGCCTGCAGGACCGCAGCTGTGGGGAGGAGCTGCCCTGGGATGAGCTCGATTTAGGCTTGGACGAGGACCTGGAGCCCGAGACTAGCCCGCTGGAGACCTTCCTGGCCTCTCTGCACATGGAGGACTTTGCCGCCCTCCTGCGGCAGGAGAAGATCGACCTCGAGGCTTTGATGCTGTGCTCTGACCTCGACCTCCGCAGCATCAGCGTCCCACTGGGGCCCCGAAAGAAGATCTTGGGGGCCGTGAGGAGGCGGCGGCAGGCGATGGAGCGCCCGCCGGCCCTGGAGGACACAGAGCTATAA
Amino sequence
MNDQYHRAARDGYLELLKEATRKELNAPDEDGMTPTLWAAYHGNLESLRLIVSRGGDPDKCDIWGNTPLHLAASNGHLHCLSFLVSFGANIWCLDNDYHTPLDMAAMKGHMECVRYLDSIAAKQSSLNPKLVGKLKDKAFREAERRIRECAKLQRRHHERMERRYRRELAERSDTLSFSSLTSSTLSRRLQHLALGSHLPYSQATLHGTARGKTKMQKKLERRKQGGEGTFKVSEDGRKSARSLSGLQLGSDVMFVRQGTYANPKEWGRAPLRDMFLSDEDSVSRATLAAEPAHSEVSTDSGHDSLFTRPGLGTMVFRRNYLSSGLHGLGREDGGLDGVGAPRGRLQSSPSLDDDSLGSANSLQDRSCGEELPWDELDLGLDEDLEPETSPLETFLASLHMEDFAALLRQEKIDLEALMLCSDLDLRSISVPLGPRKKILGAVRRRRQAMERPPALEDTEL*