ENST00000005226.12 USH1C

Information
Transcript ID
ENST00000005226.12
Genome
hg38
Position
chr11:17,493,900-17,544,416
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 17,493,900 17,494,376
26 17,495,569 17,495,677
25 17,496,758 17,496,813
24 17,498,162 17,498,271
23 17,501,051 17,501,150
22 17,501,482 17,501,535
21 17,501,939 17,501,980
20 17,504,647 17,504,697
19 17,505,830 17,505,949
18 17,509,356 17,509,838
17 17,510,405 17,510,521
16 17,511,902 17,512,054
15 17,516,241 17,516,290
14 17,520,870 17,520,994
13 17,521,346 17,521,411
12 17,522,784 17,522,926
11 17,523,211 17,523,267
10 17,523,419 17,523,478
9 17,524,451 17,524,535
8 17,526,347 17,526,441
7 17,526,753 17,526,810
6 17,527,016 17,527,040
5 17,527,223 17,527,331
4 17,531,154 17,531,292
3 17,531,399 17,531,542
2 17,533,255 17,533,322
1 17,544,272 17,544,416
CDS
Exon number Type Start Stop
27 CDS 17,494,332 17,494,376
26 CDS 17,495,569 17,495,677
25 CDS 17,496,758 17,496,813
24 CDS 17,498,162 17,498,271
23 CDS 17,501,051 17,501,150
22 CDS 17,501,482 17,501,535
21 CDS 17,501,939 17,501,980
20 CDS 17,504,647 17,504,697
19 CDS 17,505,830 17,505,949
18 CDS 17,509,356 17,509,838
17 CDS 17,510,405 17,510,521
16 CDS 17,511,902 17,512,054
15 CDS 17,516,241 17,516,290
14 CDS 17,520,870 17,520,994
13 CDS 17,521,346 17,521,411
12 CDS 17,522,784 17,522,926
11 CDS 17,523,211 17,523,267
10 CDS 17,523,419 17,523,478
9 CDS 17,524,451 17,524,535
8 CDS 17,526,347 17,526,441
7 CDS 17,526,753 17,526,810
6 CDS 17,527,016 17,527,040
5 CDS 17,527,223 17,527,331
4 CDS 17,531,154 17,531,292
3 CDS 17,531,399 17,531,542
2 CDS 17,533,255 17,533,322
1 CDS 17,544,272 17,544,307
Other genome
Genome Chromosome Start End Links
hg19 chr11 17,515,447 17,565,963 Link
CDS sequence
ATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAGGTGGATTTTCTGATTGAAAATGATGCAGAGAAGGACTATCTCTATGATGTGCTGCGAATGTACCACCAGACCATGGACGTGGCCGTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAGCCGTCTGCCTCTGTTTGATGCCATTCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCCAGGAAGCTGAAGGAGGTGCGTCTGGACCGTCTGCACCCCGAAGGCCTCGGCCTGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCATCTCCCACCTCATCAAAGGCGGTCAGGCAGACAGCGTCGGGCTCCAGGTAGGGGACGAGATCGTCCGGATCAATGGATATTCCATCTCCTCCTGTACCCATGAGGAGGTCATCAACCTCATTCGAACCAAGAAAACTGTGTCCATCAAAGTGAGACACATCGGCCTGATCCCCGTGAAAAGCTCTCCTGATGAGCCCCTCACTTGGCAGTATGTGGATCAGTTTGTGTCGGAATCTGGGGGCGTGCGAGGCAGCCTGGGCTCCCCTGGAAATCGGGAAAACAAGGAGAAGAAGGTCTTCATCAGCCTGGTAGGCTCCCGAGGCCTTGGCTGCAGCATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGCCATGTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAGATAGGGGACCAGATTGTCGAAGTCAATGGCGTCGACTTCTCTAACCTGGATCACAAGGAGGCTGTAAATGTGCTGAAGAGTAGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCTGGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCAAAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATGGAACAGATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGGGGCTCAAAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGCAAGCCAAAGTCTTTTGGATGGTTTTATCGTTACGATGGCAAATTCCCAACCATCCGGAAGAAAGGAAAAGATAAGAAGAAAGCCAAGTATGGCAGCCTGCAGGACTTGAGAAAGAATAAGAAAGAACTGGAGTTTGAGCAAAAGCTTTACAAAGAGAAAGAGGAAATGCTGGAGAAGGAAAAGCAGCTAAAGATCAACCGGCTGGCCCAGGAGGTGTCTGAGACAGAGCGGGAAGACCTTGAAGAATCGGAAAAGATTCAATATTGGGTGGAGAGGCTCTGTCAAACGCGCCTCGAGCAGATTTCCTCTGCTGATAATGAGATTTCAGAGATGACCACAGGGCCCCCGCCTCCCCCGCCTTCTGTGTCTCCCCTGGCCCCACCCTTGAGACGCTTCGCAGGCGGACTGCACCTGCACACCACTGACCTGGACGACATCCCTTTGGACATGTTCTACTATCCCCCCAAGACTCCCTCTGCCTTGCCTGTGATGCCCCACCCTCCACCCTCCAACCCACCCCACAAGGTCCCGGCGCCCCCTGTCCTTCCCTTATCTGGCCATGTGAGCGCCTCATCCTCTCCATGGGTGCAGCGCACTCCACCCCCCATTCCCATCCCTCCCCCGCCATCCGTTCCCACCCAAGACCTCACTCCCACCCGCCCACTGCCCTCGGCGCTGGAAGAAGCACTGAGCAACCATCCCTTCCGCACTGGGGACACAGGCAATCCAGTGGAGGACTGGGAGGCAAAGAACCACAGTGGGAAGCCCACTAACTCCCCTGTCCCTGAACAGAGCTTCCCACCCACCCCAAAGACATTTTGCCCAAGCCCACAGCCTCCACGAGGCCCTGGCGTGTCCACCATCTCCAAACCTGTCATGGTCCACCAGGAGCCCAATTTCATCTACAGGCCAGCTGTGAAATCTGAAGTTCTGCCACAGGAGATGTTGAAGAGGATGGTGGTTTATCAGACAGCATTCAGACAAGATTTCCGGAAATATGAGGAAGGCTTTGACCCCTACTCTATGTTCACCCCAGAGCAGATCATGGGGAAGGATGTCCGGCTCCTACGCATCAAGAAGGAGGGATCCTTAGACCTGGCCCTGGAAGGCGGTGTGGACTCCCCCATTGGGAAGGTGGTCGTTTCTGCTGTGTATGAGCGGGGAGCTGCTGAGCGGCATGGTGGCATTGTGAAAGGGGACGAGATCATGGCAATCAACGGCAAGATTGTGACAGACTACACCCTGGCTGAGGCTGAGGCTGCCCTGCAGAAGGCCTGGAATCAGGGCGGGGACTGGATCGACCTTGTGGTTGCCGTCTGCCCCCCAAAGGAGTATGACGATGAGCTAGCTTCTCTTCCCTCCTCCGTAGCTGAAAGCCCCCAACCGGTCCGAAAGCTCCTTGAAGACCGTGCTGCCGTGCACAGACACGGGTTCCTCCTGCAGCTGGAGCCCACGGACCTTCTTCTGAAGTCCAAAAGGGGAAACCAAATTCACCGTTAG
Amino sequence
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKSFGWFYRYDGKFPTIRKKGKDKKKAKYGSLQDLRKNKKELEFEQKLYKEKEEMLEKEKQLKINRLAQEVSETEREDLEESEKIQYWVERLCQTRLEQISSADNEISEMTTGPPPPPPSVSPLAPPLRRFAGGLHLHTTDLDDIPLDMFYYPPKTPSALPVMPHPPPSNPPHKVPAPPVLPLSGHVSASSSPWVQRTPPPIPIPPPPSVPTQDLTPTRPLPSALEEALSNHPFRTGDTGNPVEDWEAKNHSGKPTNSPVPEQSFPPTPKTFCPSPQPPRGPGVSTISKPVMVHQEPNFIYRPAVKSEVLPQEMLKRMVVYQTAFRQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELASLPSSVAESPQPVRKLLEDRAAVHRHGFLLQLEPTDLLLKSKRGNQIHR*