ENST00000678463.1 MKS1

Information
Transcript ID
ENST00000678463.1
Genome
hg19
Position
chr17:56,282,802-56,296,616
Strand
-
CDS length
1,686
Amino acid length
562
Gene symbol
MKS1
Gene type
protein-coding
Gene description
MKS transition zone complex subunit 1
Gene Entrez Gene ID
54903
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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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
17 56,282,802 56,283,531
16 56,283,644 56,283,741
15 56,284,446 56,284,579
14 56,285,255 56,285,362
13 56,285,466 56,285,535
12 56,285,874 56,285,944
11 56,288,020 56,288,085
10 56,288,341 56,288,383
9 56,289,739 56,289,795
8 56,290,343 56,290,451
7 56,291,126 56,291,230
6 56,291,620 56,291,748
5 56,292,102 56,292,199
4 56,293,449 56,293,604
3 56,294,027 56,294,097
2 56,295,981 56,296,090
1 56,296,512 56,296,616
CDS
Exon number Type Start Stop
17 CDS 56,283,351 56,283,531
16 CDS 56,283,644 56,283,741
15 CDS 56,284,446 56,284,579
14 CDS 56,285,255 56,285,362
13 CDS 56,285,466 56,285,535
12 CDS 56,285,874 56,285,944
11 CDS 56,288,020 56,288,085
10 CDS 56,288,341 56,288,383
9 CDS 56,289,739 56,289,795
8 CDS 56,290,343 56,290,451
7 CDS 56,291,126 56,291,230
6 CDS 56,291,620 56,291,748
5 CDS 56,292,102 56,292,199
4 CDS 56,293,449 56,293,604
3 CDS 56,294,027 56,294,097
2 CDS 56,295,981 56,296,090
1 CDS 56,296,512 56,296,591
Other genome
Genome Chromosome Start End Links
hg38 chr17 58,205,441 58,219,255 Link
CDS sequence
ATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGTGGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCGAGGTGCCTTCATTCTTGGTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCACGCATCGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAAGCTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGACTGTCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGTTTCAGCCCAAGGCTATGAGTATGACAATCTCTACGTCCACTTCTTTGTAGAATTGCCAACTGCTCACTGGTCAAGCCCAGCATTCCAGCAGCTCTCAGGAGTAACACAGACCTGCACCACCAAGTCCCTGGCAATGGACAAGGTGGCTCACTTCTCCTACCCATTCACGTTTGAAGCCTTCTTCCTCCATGAGGATGAATCTTCTGATGCACTCCCGGAGTGGCCTGTGCTCTACTGTGAGGTCCTCTCGCTGGACTTCTGGCAGAGGTACCGTGTGGAAGGCTATGGGGCTGTGGTGCTGCCTGCCACTCCAGGCTCACACACCCTGACAGTCTCCACGTGGAGACCTGTGGAGCTTGGCACGGTGGCTGAGCTGAGGAGGTTTTTCATTGGCGGTTCTCTGGAACTGGAGGACCTCTCCTATGTACGGATACCAGGATCCTTCAAGGGCCTTCATGGAATCGAGCTCCCTTCAGAAAAGGATGCGGAGTGTGTTGGACCGTCTGGAAGGGTTCAGCCAGCAGAGTTCCATTCACAATGTGCTAGAGGCCTTCCGTCGAGCCCGGCGCCGCATGCAGGAGGCCCGGGAAAGCCTCCCGCAGGACCTAGTGAGCCCCTCTGGAACCCTGGTCTCCTAGCTCACAGCAGCCCTGGCCCACAGTGCAAGAGGACAAGATGGGGGATATCTGAGGCCAGTGCTCTCCTGCCTCTTCGTCTTTCTGATTAG
Amino sequence
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGLHGIELPSEKDAECVGPSGRVQPAEFHSQCARGLPSSPAPHAGGPGKPPAGPSEPLWNPGLLAHSSPGPQCKRTRWGISEASALLPLRLSD*