ENST00000252597.8 USHBP1

Information
Transcript ID
ENST00000252597.8
Genome
hg38
Position
chr19:17,249,171-17,264,745
Strand
-
CDS length
2,112
Amino acid length
704
Gene symbol
USHBP1
Gene type
protein-coding
Gene description
USH1 protein network component harmonin binding protein 1
Gene Entrez Gene ID
83878
Variants

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Search Word
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
13 17,249,171 17,250,414
12 17,251,582 17,251,704
11 17,251,911 17,252,017
10 17,255,385 17,255,606
9 17,256,471 17,256,720
8 17,258,212 17,258,385
7 17,259,289 17,259,429
6 17,259,596 17,259,732
5 17,259,897 17,260,022
4 17,262,552 17,262,990
3 17,264,002 17,264,150
2 17,264,246 17,264,347
1 17,264,671 17,264,745
CDS
Exon number Type Start Stop
13 CDS 17,250,225 17,250,414
12 CDS 17,251,582 17,251,704
11 CDS 17,251,911 17,252,017
10 CDS 17,255,385 17,255,606
9 CDS 17,256,471 17,256,720
8 CDS 17,258,212 17,258,385
7 CDS 17,259,289 17,259,429
6 CDS 17,259,596 17,259,732
5 CDS 17,259,897 17,260,022
4 CDS 17,262,552 17,262,990
3 CDS 17,264,002 17,264,150
2 CDS 17,264,246 17,264,299
Other genome
Genome Chromosome Start End Links
hg19 chr19 17,359,980 17,375,554 Link
CDS sequence
ATGAGTGCCCGGGCCACGCGGCCCCGAAGCCGGCGAGGGAGGCATGCTCCACCCGGTGAACTGGATCCCGTGGCTGAGAGTTCAGAGGAGGTCGAGGCAGCCAGTGGGAGCTCCAAGCCCAGCTTTGCCCCACCTCCGGTGAGCTCCGGGCTGGAGCAGCTGGGCCCCATGGAGGAGGTCAGTGGCCAAGGCCTAGGAAGCAGGACTGACAAGAAGATGGATGGGGGCTCTGGCAGGGAACTGGCCTCAGCCCCCGAAGTGCCCCACAAACCTGCAGTGGAAGCCCACCAAGCCCCAGAAGCAGCCCTACAGTACAAGGAGACTGTGCCCCCTGGGAATGGGGCCCCCGATGTGTTTCAGACCCTCCAGCACACTCTGAGCTCCCTGGAGGCAGCGGCTGCAGCCTGGCGCCACCAGCCCCCCAGCCATTCTGGGCCGATGGAGTTCGAAGGCACAAGCGAAGGGGGAGCAGGTTCCCTTGGGAAGCAGGAAGGGGCAGGGAGCTGCCAGCGAGAGGCAGCTCGCCTGGCCGAGAGGAATGCCTGGCTCCGGCTGGCCCTGAGTAGCCGAGAGGATGAGCTGGTCCGCACGCAGGCCTCCCTGGAGGCCATCCGAGCTGAGAAGGAGACGCTGCAGAAAGAGGTTCAAGAGCTGCAGGATTCCCTCTTGAGGCTGGAGCCCTGCCCACATCTTTCCCACAACCAAGCAGGTGGCTCAGGCAGTGGTTCTAGCAGCTCTGAGGCAGACAGGGAACCCTGGGAGACTCAGGACTCCTTCTCCCTGGCTCACCCCCTGCTTCGGCGCCTCCGCAGCCATTCCAGCACCCAGATCCTTGGGTCTCTTCCCAACCAGCCCCTCAGTCCTGAGATGCACATCATGGAAGCCCAGATGGAGCAACTCCGGGGGAGCATTGAGAAGCTCAAATGCTTTAATCGTCTGCTATCAGCTGTGCTACAGGGATACAAGGGCCGCTGTGAAGGCCTCAGCATGCAGCTAGGCCAGCGGGAGGCTGAGGCCACAGCATTGCATCTGGCCTTGCAGTACAGTGAACACTGTGAAGAGGCATACAGGGTTCTGCTTGCTCTGCGGGAGGCCGACTCAGGAGCAGGAGACGAAGCCCCCATGAGTGACCTGCAAGCAGCTGAAAAGGAAGCATGGAGGCTGCTGGCACAAGAGGAGGCTGCCATGGATGCAGGAGCACAGCAGAATCCACAGCCAAGCCCTGAAGGCAGCAGTGTGGATAAGCCCACCCCACAGGAAGTGGCTTTCCAGCTCCGAAGCTATGTCCAGCGTCTCCAGGAGCGCCGTTCTCTAATGAAGATTCTCTCAGAGCCTGGCCCCACCTTGGCACCCATGCCCACTGTGCCCCGTGCAGAAGCCATGGTGCAGGCCATTCTGGGGACCCAGGCTGGCCCAGCTCTTCCCCGACTGGAGAAGACACAAATTCAGCAGGACCTGGTGGCCGCAAGGGAGGCCCTGGCGGACCTGATGCTTCGGCTGCAGCTGGTGCGGCGTGAGAAGCGGGGCCTAGAGCTGCGGGAGGCTGCCCTCCGAGCCCTGGGTCCAGCTCACGTGCTCCTGCTGGAGCAGCTGCGGTGGGAACGGGCAGAGCTCCAGGCTGGTGGGGCAAACAGCAGTGGCGGACATAGCAGCGGAGGTGGCAGCAGCGGGGACGAGGAAGAGTGGTATCAGGGCCTTCCTGCTGTCCCTGGTGGCACCAGTGGCATTGATGGTGGCCAGGTGGGCAGAGCCTGGGACCCAGAGAAGTTAGCCCAGGAACTGGCAGCATCGCTCACCAGGACACTGGACCTGCAGGAGCAGCTGCAGTCTCTGCGCAGGGAGCTGGAACAGGTGGCTCAGAAGGGGCGAGCCAGACGGTCTCAGAGTGCCGAGCTGAACAGGGATTTATGCAAAGCCCACAGCGCCCTGGTCCTGGCCTTCCGAGGAGCCCACCGGAAGCAGGAAGAGCAACGCCGGAAGTTGGAGCAGCAGATGGCACTCATGGAGGCTCAGCAGGCCGAGGAGGTGGCGGTGCTCGAAGCCACTGCAAGGGCCCTGGGGAAGCCCAGGCCTCCCCTCCCGCCTCCCCAGCTTGGGGACACCTTTCTGTAG
Amino sequence
MSARATRPRSRRGRHAPPGELDPVAESSEEVEAASGSSKPSFAPPPVSSGLEQLGPMEEVSGQGLGSRTDKKMDGGSGRELASAPEVPHKPAVEAHQAPEAALQYKETVPPGNGAPDVFQTLQHTLSSLEAAAAAWRHQPPSHSGPMEFEGTSEGGAGSLGKQEGAGSCQREAARLAERNAWLRLALSSREDELVRTQASLEAIRAEKETLQKEVQELQDSLLRLEPCPHLSHNQAGGSGSGSSSSEADREPWETQDSFSLAHPLLRRLRSHSSTQILGSLPNQPLSPEMHIMEAQMEQLRGSIEKLKCFNRLLSAVLQGYKGRCEGLSMQLGQREAEATALHLALQYSEHCEEAYRVLLALREADSGAGDEAPMSDLQAAEKEAWRLLAQEEAAMDAGAQQNPQPSPEGSSVDKPTPQEVAFQLRSYVQRLQERRSLMKILSEPGPTLAPMPTVPRAEAMVQAILGTQAGPALPRLEKTQIQQDLVAAREALADLMLRLQLVRREKRGLELREAALRALGPAHVLLLEQLRWERAELQAGGANSSGGHSSGGGSSGDEEEWYQGLPAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTRTLDLQEQLQSLRRELEQVAQKGRARRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRKLEQQMALMEAQQAEEVAVLEATARALGKPRPPLPPPQLGDTFL*