ENST00000252597.8 USHBP1

Information
Transcript ID
ENST00000252597.8
Genome
hg19
Position
chr19:17,359,980-17,375,554
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 17,359,980 17,361,223
12 17,362,391 17,362,513
11 17,362,720 17,362,826
10 17,366,194 17,366,415
9 17,367,280 17,367,529
8 17,369,021 17,369,194
7 17,370,098 17,370,238
6 17,370,405 17,370,541
5 17,370,706 17,370,831
4 17,373,361 17,373,799
3 17,374,811 17,374,959
2 17,375,055 17,375,156
1 17,375,480 17,375,554
CDS
Exon number Type Start Stop
13 CDS 17,361,034 17,361,223
12 CDS 17,362,391 17,362,513
11 CDS 17,362,720 17,362,826
10 CDS 17,366,194 17,366,415
9 CDS 17,367,280 17,367,529
8 CDS 17,369,021 17,369,194
7 CDS 17,370,098 17,370,238
6 CDS 17,370,405 17,370,541
5 CDS 17,370,706 17,370,831
4 CDS 17,373,361 17,373,799
3 CDS 17,374,811 17,374,959
2 CDS 17,375,055 17,375,108
Other genome
Genome Chromosome Start End Links
hg38 chr19 17,249,171 17,264,745 Link
CDS sequence
ATGAGTGCCCGGGCCACGCGGCCCCGAAGCCGGCGAGGGAGGCATGCTCCACCCGGTGAACTGGATCCCGTGGCTGAGAGTTCAGAGGAGGTCGAGGCAGCCAGTGGGAGCTCCAAGCCCAGCTTTGCCCCACCTCCGGTGAGCTCCGGGCTGGAGCAGCTGGGCCCCATGGAGGAGGTCAGTGGCCAAGGCCTAGGAAGCAGGACTGACAAGAAGATGGATGGGGGCTCTGGCAGGGAACTGGCCTCAGCCCCCGAAGTGCCCCACAAACCTGCAGTGGAAGCCCACCAAGCCCCAGAAGCAGCCCTACAGTACAAGGAGACTGTGCCCCCTGGGAATGGGGCCCCCGATGTGTTTCAGACCCTCCAGCACACTCTGAGCTCCCTGGAGGCAGCGGCTGCAGCCTGGCGCCACCAGCCCCCCAGCCATTCTGGGCCGATGGAGTTCGAAGGCACAAGCGAAGGGGGAGCAGGTTCCCTTGGGAAGCAGGAAGGGGCAGGGAGCTGCCAGCGAGAGGCAGCTCGCCTGGCCGAGAGGAATGCCTGGCTCCGGCTGGCCCTGAGTAGCCGAGAGGATGAGCTGGTCCGCACGCAGGCCTCCCTGGAGGCCATCCGAGCTGAGAAGGAGACGCTGCAGAAAGAGGTTCAAGAGCTGCAGGATTCCCTCTTGAGGCTGGAGCCCTGCCCACATCTTTCCCACAACCAAGCAGGTGGCTCAGGCAGTGGTTCTAGCAGCTCTGAGGCAGACAGGGAACCCTGGGAGACTCAGGACTCCTTCTCCCTGGCTCACCCCCTGCTTCGGCGCCTCCGCAGCCATTCCAGCACCCAGATCCTTGGGTCTCTTCCCAACCAGCCCCTCAGTCCTGAGATGCACATCATGGAAGCCCAGATGGAGCAACTCCGGGGGAGCATTGAGAAGCTCAAATGCTTTAATCGTCTGCTATCAGCTGTGCTACAGGGATACAAGGGCCGCTGTGAAGGCCTCAGCATGCAGCTAGGCCAGCGGGAGGCTGAGGCCACAGCATTGCATCTGGCCTTGCAGTACAGTGAACACTGTGAAGAGGCATACAGGGTTCTGCTTGCTCTGCGGGAGGCCGACTCAGGAGCAGGAGACGAAGCCCCCATGAGTGACCTGCAAGCAGCTGAAAAGGAAGCATGGAGGCTGCTGGCACAAGAGGAGGCTGCCATGGATGCAGGAGCACAGCAGAATCCACAGCCAAGCCCTGAAGGCAGCAGTGTGGATAAGCCCACCCCACAGGAAGTGGCTTTCCAGCTCCGAAGCTATGTCCAGCGTCTCCAGGAGCGCCGTTCTCTAATGAAGATTCTCTCAGAGCCTGGCCCCACCTTGGCACCCATGCCCACTGTGCCCCGTGCAGAAGCCATGGTGCAGGCCATTCTGGGGACCCAGGCTGGCCCAGCTCTTCCCCGACTGGAGAAGACACAAATTCAGCAGGACCTGGTGGCCGCAAGGGAGGCCCTGGCGGACCTGATGCTTCGGCTGCAGCTGGTGCGGCGTGAGAAGCGGGGCCTAGAGCTGCGGGAGGCTGCCCTCCGAGCCCTGGGTCCAGCTCACGTGCTCCTGCTGGAGCAGCTGCGGTGGGAACGGGCAGAGCTCCAGGCTGGTGGGGCAAACAGCAGTGGCGGACATAGCAGCGGAGGTGGCAGCAGCGGGGACGAGGAAGAGTGGTATCAGGGCCTTCCTGCTGTCCCTGGTGGCACCAGTGGCATTGATGGTGGCCAGGTGGGCAGAGCCTGGGACCCAGAGAAGTTAGCCCAGGAACTGGCAGCATCGCTCACCAGGACACTGGACCTGCAGGAGCAGCTGCAGTCTCTGCGCAGGGAGCTGGAACAGGTGGCTCAGAAGGGGCGAGCCAGACGGTCTCAGAGTGCCGAGCTGAACAGGGATTTATGCAAAGCCCACAGCGCCCTGGTCCTGGCCTTCCGAGGAGCCCACCGGAAGCAGGAAGAGCAACGCCGGAAGTTGGAGCAGCAGATGGCACTCATGGAGGCTCAGCAGGCCGAGGAGGTGGCGGTGCTCGAAGCCACTGCAAGGGCCCTGGGGAAGCCCAGGCCTCCCCTCCCGCCTCCCCAGCTTGGGGACACCTTTCTGTAG
Amino sequence
MSARATRPRSRRGRHAPPGELDPVAESSEEVEAASGSSKPSFAPPPVSSGLEQLGPMEEVSGQGLGSRTDKKMDGGSGRELASAPEVPHKPAVEAHQAPEAALQYKETVPPGNGAPDVFQTLQHTLSSLEAAAAAWRHQPPSHSGPMEFEGTSEGGAGSLGKQEGAGSCQREAARLAERNAWLRLALSSREDELVRTQASLEAIRAEKETLQKEVQELQDSLLRLEPCPHLSHNQAGGSGSGSSSSEADREPWETQDSFSLAHPLLRRLRSHSSTQILGSLPNQPLSPEMHIMEAQMEQLRGSIEKLKCFNRLLSAVLQGYKGRCEGLSMQLGQREAEATALHLALQYSEHCEEAYRVLLALREADSGAGDEAPMSDLQAAEKEAWRLLAQEEAAMDAGAQQNPQPSPEGSSVDKPTPQEVAFQLRSYVQRLQERRSLMKILSEPGPTLAPMPTVPRAEAMVQAILGTQAGPALPRLEKTQIQQDLVAAREALADLMLRLQLVRREKRGLELREAALRALGPAHVLLLEQLRWERAELQAGGANSSGGHSSGGGSSGDEEEWYQGLPAVPGGTSGIDGGQVGRAWDPEKLAQELAASLTRTLDLQEQLQSLRRELEQVAQKGRARRSQSAELNRDLCKAHSALVLAFRGAHRKQEEQRRKLEQQMALMEAQQAEEVAVLEATARALGKPRPPLPPPQLGDTFL*