ENST00000393119.7 MKS1

Information
Transcript ID
ENST00000393119.7
Genome
hg38
Position
chr17:58,205,441-58,219,255
Strand
-
CDS length
1,680
Amino acid length
560
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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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
18 58,205,441 58,206,170
17 58,206,283 58,206,380
16 58,206,465 58,206,547
15 58,207,085 58,207,218
14 58,207,894 58,208,001
13 58,208,105 58,208,174
12 58,208,513 58,208,583
11 58,210,659 58,210,724
10 58,210,980 58,211,022
9 58,212,378 58,212,434
8 58,212,982 58,213,090
7 58,213,765 58,213,869
6 58,214,259 58,214,387
5 58,214,741 58,214,838
4 58,216,088 58,216,243
3 58,216,666 58,216,736
2 58,218,620 58,218,729
1 58,219,151 58,219,255
CDS
Exon number Type Start Stop
18 CDS 58,206,079 58,206,170
17 CDS 58,206,283 58,206,380
16 CDS 58,206,465 58,206,547
15 CDS 58,207,085 58,207,218
14 CDS 58,207,894 58,208,001
13 CDS 58,208,105 58,208,174
12 CDS 58,208,513 58,208,583
11 CDS 58,210,659 58,210,724
10 CDS 58,210,980 58,211,022
9 CDS 58,212,378 58,212,434
8 CDS 58,212,982 58,213,090
7 CDS 58,213,765 58,213,869
6 CDS 58,214,259 58,214,387
5 CDS 58,214,741 58,214,838
4 CDS 58,216,088 58,216,243
3 CDS 58,216,666 58,216,736
2 CDS 58,218,620 58,218,729
1 CDS 58,219,151 58,219,230
Other genome
Genome Chromosome Start End Links
hg19 chr17 56,282,802 56,296,616 Link
CDS sequence
ATGGCGGAGACCGTCTGGAGCACTGACACCGGGGAGGCAGTGTATCGCTCCCGGGACCCCGTGCGCAACTTGCGCCTCCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCCGAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGGCAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAGAATTCGGGTGGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCGAGGTGCCTTCATTCTTGGTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCACGCATCGTCACCTGGGAGCCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAAGCTTGGCTATAAGAAGTATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGGGAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGGCACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGACTGTCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGTTTCAGCCCAAGGCTATGAGTATGACAATCTCTACGTCCACTTCTTTGTAGAATTGCCAACTGCTCACTGGTCAAGCCCAGCATTCCAGCAGCTCTCAGGAGTAACACAGACCTGCACCACCAAGTCCCTGGCAATGGACAAGGTGGCTCACTTCTCCTACCCATTCACGTTTGAAGCCTTCTTCCTCCATGAGGATGAATCTTCTGATGCACTCCCGGAGTGGCCTGTGCTCTACTGTGAGGTCCTCTCGCTGGACTTCTGGCAGAGGTACCGTGTGGAAGGCTATGGGGCTGTGGTGCTGCCTGCCACTCCAGGCTCACACACCCTGACAGTCTCCACGTGGAGACCTGTGGAGCTTGGCACGGTGGCTGAGCTGAGGAGGTTTTTCATTGGCGGTTCTCTGGAACTGGAGGACCTCTCCTATGTACGGATACCAGGATCCTTCAAGGGGGAACGCCTGAGCCGCTTTGGACTCCGCACAGAGACCACAGGCACTGTCACCTTCCGCTTGCACTGTCTGCAGCAGTCCAGGGCCTTCATGGAATCGAGCTCCCTTCAGAAAAGGATGCGGAGTGTGTTGGACCGTCTGGAAGGGTTCAGCCAGCAGAGTTCCATTCACAATGTGCTAGAGGCCTTCCGTCGAGCCCGGCGCCGCATGCAGGAGGCCCGGGAAAGCCTCCCGCAGGACCTAGTGAGCCCCTCTGGAACCCTGGTCTCCTAG
Amino sequence
MAETVWSTDTGEAVYRSRDPVRNLRLRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLENSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKKYEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGYEYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLTVSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRARRRMQEARESLPQDLVSPSGTLVS*