AutismKB 2.0

Evidence Details for MKS1


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Basic Information Top
Gene Symbol:MKS1 ( BBS13,FLJ20345,MES,MKS,POC12 )
Gene Full Name: Meckel syndrome, type 1
Band: 17q22
Quick LinksEntrez ID:54903; OMIM: 609883; Uniprot ID:MKS1_HUMAN; ENSEMBL ID: ENSG00000011143; HGNC ID: 7121
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MKS1|54903|nucleotide
ATGGCTGTGCCAGTTTCCTCATTTGCACAGCGCACGAGGTCCCGCTTTCGAGTCCACCTGCAAAGAATCACATCAAGCAACTTTCTTCATTATCAGCCTGCTGCC
GAGCTCGGGAAGGACCTCATAGACTTGGCCACTTTTAGGCCTCAGCCAACTGCCAGTGGACACCGCCCAGAGGAAGACGAAGAGGAGGAGATTGTGATTGGGTGG
CAGGAGAAGCTCTTTAGCCAGTTTGAAGTAGATCTGTACCAAAATGAAACAGCCTGTCAGAGTCCTTTGGATTATCAGTACCGTCAGGAGATCCTGAAGCTGGAG
AATTCGGGTGGCAAGAAAAACCGACGAATCTTTACCTACACTGACTCTGATAGATACACCAATTTGGAGGAGCACTGTCAGAGAATGACCACTGCAGCCAGCGAG
GTGCCTTCATTCTTGGTCGAGCGAATGGCAAATGTCAGGCGTCGCCGGCAGGACAGGCGAGGGATGGAGGGCGGCATCCTCAAGTCACGCATCGTCACCTGGGAG
CCCTCAGAAGAGTTTGTCAGGAACAACCACGTCATTAACACCCCTCTTCAGACAATGCACATCATGGCAGACCTGGGGCCCTATAAAAAGCTTGGCTATAAGAAG
TATGAACATGTCCTGTGTACTCTGAAGGTGGATAGCAATGGTGTGATCACAGTAAAGCCTGACTTCACGGGCCTCAAAGGACCCTACAGGATTGAGACGGAGGGG
GAGAAGCAGGAGCTGTGGAAATATACGATCGACAATGTTTCCCCCCACGCACAGCCGGAGGAGGAGGAGCGGGAACGGCGAGTGTTCAAGGATCTTTATGGCCGG
CACAAGGAGTATCTCAGCAGCCTCGTAGGCACCGACTTTGAGATGACTGTCCCAGGTGCCCTCCGGCTCTTTGTAAATGGAGAGGTCGTTTCAGCCCAAGGCTAT
GAGTATGACAATCTCTACGTCCACTTCTTTGTAGAATTGCCAACTGCTCACTGGTCAAGCCCAGCATTCCAGCAGCTCTCAGGAGTAACACAGACCTGCACCACC
AAGTCCCTGGCAATGGACAAGGTGGCTCACTTCTCCTACCCATTCACGTTTGAAGCCTTCTTCCTCCATGAGGATGAATCTTCTGATGCACTCCCGGAGTGGCCT
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>MKS1|54903|protein
MAVPVSSFAQRTRSRFRVHLQRITSSNFLHYQPAAELGKDLIDLATFRPQPTASGHRPEEDEEEEIVIGWQEKLFSQFEVDLYQNETACQSPLDYQYRQEILKLE
NSGGKKNRRIFTYTDSDRYTNLEEHCQRMTTAASEVPSFLVERMANVRRRRQDRRGMEGGILKSRIVTWEPSEEFVRNNHVINTPLQTMHIMADLGPYKKLGYKK
YEHVLCTLKVDSNGVITVKPDFTGLKGPYRIETEGEKQELWKYTIDNVSPHAQPEEEERERRVFKDLYGRHKEYLSSLVGTDFEMTVPGALRLFVNGEVVSAQGY
EYDNLYVHFFVELPTAHWSSPAFQQLSGVTQTCTTKSLAMDKVAHFSYPFTFEAFFLHEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPATPGSHTLT
VSTWRPVELGTVAELRRFFIGGSLELEDLSYVRIPGSFKGERLSRFGLRTETTGTVTFRLHCLQQSRAFMESSSLQKRMRSVLDRLEGFSQQSSIHNVLEAFRRA
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top