ENST00000005226.12 USH1C

Information
Transcript ID
ENST00000005226.12
Genome
hg19
Position
chr11:17,515,447-17,565,963
Strand
-
CDS length
2,700
Amino acid length
900
Gene symbol
USH1C
Gene type
protein-coding
Gene description
USH1 protein network component harmonin
Gene Entrez Gene ID
10083
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
27 17,515,447 17,515,923
26 17,517,116 17,517,224
25 17,518,305 17,518,360
24 17,519,709 17,519,818
23 17,522,598 17,522,697
22 17,523,029 17,523,082
21 17,523,486 17,523,527
20 17,526,194 17,526,244
19 17,527,377 17,527,496
18 17,530,903 17,531,385
17 17,531,952 17,532,068
16 17,533,449 17,533,601
15 17,537,788 17,537,837
14 17,542,417 17,542,541
13 17,542,893 17,542,958
12 17,544,331 17,544,473
11 17,544,758 17,544,814
10 17,544,966 17,545,025
9 17,545,998 17,546,082
8 17,547,894 17,547,988
7 17,548,300 17,548,357
6 17,548,563 17,548,587
5 17,548,770 17,548,878
4 17,552,701 17,552,839
3 17,552,946 17,553,089
2 17,554,802 17,554,869
1 17,565,819 17,565,963
CDS
Exon number Type Start Stop
27 CDS 17,515,879 17,515,923
26 CDS 17,517,116 17,517,224
25 CDS 17,518,305 17,518,360
24 CDS 17,519,709 17,519,818
23 CDS 17,522,598 17,522,697
22 CDS 17,523,029 17,523,082
21 CDS 17,523,486 17,523,527
20 CDS 17,526,194 17,526,244
19 CDS 17,527,377 17,527,496
18 CDS 17,530,903 17,531,385
17 CDS 17,531,952 17,532,068
16 CDS 17,533,449 17,533,601
15 CDS 17,537,788 17,537,837
14 CDS 17,542,417 17,542,541
13 CDS 17,542,893 17,542,958
12 CDS 17,544,331 17,544,473
11 CDS 17,544,758 17,544,814
10 CDS 17,544,966 17,545,025
9 CDS 17,545,998 17,546,082
8 CDS 17,547,894 17,547,988
7 CDS 17,548,300 17,548,357
6 CDS 17,548,563 17,548,587
5 CDS 17,548,770 17,548,878
4 CDS 17,552,701 17,552,839
3 CDS 17,552,946 17,553,089
2 CDS 17,554,802 17,554,869
1 CDS 17,565,819 17,565,854
Other genome
Genome Chromosome Start End Links
hg38 chr11 17,493,900 17,544,416 Link
CDS sequence
ATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAGGTGGATTTTCTGATTGAAAATGATGCAGAGAAGGACTATCTCTATGATGTGCTGCGAATGTACCACCAGACCATGGACGTGGCCGTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAGCCGTCTGCCTCTGTTTGATGCCATTCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCCAGGAAGCTGAAGGAGGTGCGTCTGGACCGTCTGCACCCCGAAGGCCTCGGCCTGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCATCTCCCACCTCATCAAAGGCGGTCAGGCAGACAGCGTCGGGCTCCAGGTAGGGGACGAGATCGTCCGGATCAATGGATATTCCATCTCCTCCTGTACCCATGAGGAGGTCATCAACCTCATTCGAACCAAGAAAACTGTGTCCATCAAAGTGAGACACATCGGCCTGATCCCCGTGAAAAGCTCTCCTGATGAGCCCCTCACTTGGCAGTATGTGGATCAGTTTGTGTCGGAATCTGGGGGCGTGCGAGGCAGCCTGGGCTCCCCTGGAAATCGGGAAAACAAGGAGAAGAAGGTCTTCATCAGCCTGGTAGGCTCCCGAGGCCTTGGCTGCAGCATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGCCATGTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAGATAGGGGACCAGATTGTCGAAGTCAATGGCGTCGACTTCTCTAACCTGGATCACAAGGAGGCTGTAAATGTGCTGAAGAGTAGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCTGGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCAAAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATGGAACAGATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGGGGCTCAAAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGCAAGCCAAAGTCTTTTGGATGGTTTTATCGTTACGATGGCAAATTCCCAACCATCCGGAAGAAAGGAAAAGATAAGAAGAAAGCCAAGTATGGCAGCCTGCAGGACTTGAGAAAGAATAAGAAAGAACTGGAGTTTGAGCAAAAGCTTTACAAAGAGAAAGAGGAAATGCTGGAGAAGGAAAAGCAGCTAAAGATCAACCGGCTGGCCCAGGAGGTGTCTGAGACAGAGCGGGAAGACCTTGAAGAATCGGAAAAGATTCAATATTGGGTGGAGAGGCTCTGTCAAACGCGCCTCGAGCAGATTTCCTCTGCTGATAATGAGATTTCAGAGATGACCACAGGGCCCCCGCCTCCCCCGCCTTCTGTGTCTCCCCTGGCCCCACCCTTGAGACGCTTCGCAGGCGGACTGCACCTGCACACCACTGACCTGGACGACATCCCTTTGGACATGTTCTACTATCCCCCCAAGACTCCCTCTGCCTTGCCTGTGATGCCCCACCCTCCACCCTCCAACCCACCCCACAAGGTCCCGGCGCCCCCTGTCCTTCCCTTATCTGGCCATGTGAGCGCCTCATCCTCTCCATGGGTGCAGCGCACTCCACCCCCCATTCCCATCCCTCCCCCGCCATCCGTTCCCACCCAAGACCTCACTCCCACCCGCCCACTGCCCTCGGCGCTGGAAGAAGCACTGAGCAACCATCCCTTCCGCACTGGGGACACAGGCAATCCAGTGGAGGACTGGGAGGCAAAGAACCACAGTGGGAAGCCCACTAACTCCCCTGTCCCTGAACAGAGCTTCCCACCCACCCCAAAGACATTTTGCCCAAGCCCACAGCCTCCACGAGGCCCTGGCGTGTCCACCATCTCCAAACCTGTCATGGTCCACCAGGAGCCCAATTTCATCTACAGGCCAGCTGTGAAATCTGAAGTTCTGCCACAGGAGATGTTGAAGAGGATGGTGGTTTATCAGACAGCATTCAGACAAGATTTCCGGAAATATGAGGAAGGCTTTGACCCCTACTCTATGTTCACCCCAGAGCAGATCATGGGGAAGGATGTCCGGCTCCTACGCATCAAGAAGGAGGGATCCTTAGACCTGGCCCTGGAAGGCGGTGTGGACTCCCCCATTGGGAAGGTGGTCGTTTCTGCTGTGTATGAGCGGGGAGCTGCTGAGCGGCATGGTGGCATTGTGAAAGGGGACGAGATCATGGCAATCAACGGCAAGATTGTGACAGACTACACCCTGGCTGAGGCTGAGGCTGCCCTGCAGAAGGCCTGGAATCAGGGCGGGGACTGGATCGACCTTGTGGTTGCCGTCTGCCCCCCAAAGGAGTATGACGATGAGCTAGCTTCTCTTCCCTCCTCCGTAGCTGAAAGCCCCCAACCGGTCCGAAAGCTCCTTGAAGACCGTGCTGCCGTGCACAGACACGGGTTCCTCCTGCAGCTGGAGCCCACGGACCTTCTTCTGAAGTCCAAAAGGGGAAACCAAATTCACCGTTAG
Amino sequence
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKSFGWFYRYDGKFPTIRKKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEVSETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFYYPPKTPSALPVMPHPPPSNPPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSNHPFRTGDTGNPVEDWEAKNHSGKPTNSPVPEQSFPPTPKTFCPSPQPPRGPGVSTISKPVMVHQEPNFIYRPAVKSEVLPQEMLKRMVVYQTAFRQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR*