AutismKB 2.0

Evidence Details for MINK1


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Basic Information Top
Gene Symbol:MINK1 ( B55,MAP4K6,MGC21111,MINK,YSK2,ZC3,hMINK,hMINKbeta )
Gene Full Name: misshapen-like kinase 1
Band: 17p13.2
Quick LinksEntrez ID:50488; OMIM: 609426; Uniprot ID:MINK1_HUMAN; ENSEMBL ID: ENSG00000141503; HGNC ID: 17565
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MINK1|50488|nucleotide
ATGGGCGACCCAGCCCCCGCCCGCAGCCTGGACGACATCGACCTGTCCGCCCTGCGGGACCCTGCTGGGATCTTTGAGCTTGTGGAGGTGGTCGGCAATGGAACC
TACGGACAGGTGTACAAGGGTCGGCATGTCAAGACGGGGCAGCTGGCTGCCATCAAGGTCATGGATGTCACGGAGGACGAGGAGGAAGAGATCAAACAGGAGATC
AACATGCTGAAAAAGTACTCTCACCACCGCAACATCGCCACCTACTACGGAGCCTTCATCAAGAAGAGCCCCCCGGGAAACGATGACCAGCTCTGGCTGGTGATG
GAGTTCTGTGGTGCTGGTTCAGTGACTGACCTGGTAAAGAACACAAAAGGCAACGCCCTGAAGGAGGACTGTATCGCCTATATCTGCAGGGAGATCCTCAGGGGT
CTGGCCCATCTCCATGCCCACAAGGTGATCCATCGAGACATCAAGGGGCAGAATGTGCTGCTGACAGAGAATGCTGAGGTCAAGCTAGTGGATTTTGGGGTGAGT
GCTCAGCTGGACCGCACCGTGGGCAGACGGAACACTTTCATTGGGACTCCCTACTGGATGGCTCCAGAGGTCATCGCCTGTGATGAGAACCCTGATGCCACCTAT
GATTACAGGAGTGATATTTGGTCTCTAGGAATCACAGCCATCGAGATGGCAGAGGGAGCCCCCCCTCTGTGTGACATGCACCCCATGCGAGCCCTCTTCCTCATT
CCTCGGAACCCTCCGCCCAGGCTCAAGTCCAAGAAGTGGTCTAAGAAGTTCATTGACTTCATTGACACATGTCTCATCAAGACTTACCTGAGCCGCCCACCCACG
GAGCAGCTACTGAAGTTTCCCTTCATCCGGGACCAGCCCACGGAGCGGCAGGTCCGCATCCAGCTTAAGGACCACATTGACCGATCCCGGAAGAAGCGGGGTGAG
AAAGAGGAGACAGAATATGAGTACAGCGGCAGCGAGGAGGAAGATGACAGCCATGGAGAGGAAGGAGAGCCAAGCTCCATCATGAACGTGCCTGGAGAGTCGACT
CTACGCCGGGAGTTTCTCCGGCTCCAGCAGGAAAATAAGAGCAACTCAGAGGCTTTAAAACAGCAGCAGCAGCTGCAGCAGCAGCAGCAGCGAGACCCCGAGGCA
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>MINK1|50488|protein
MGDPAPARSLDDIDLSALRDPAGIFELVEVVGNGTYGQVYKGRHVKTGQLAAIKVMDVTEDEEEEIKQEINMLKKYSHHRNIATYYGAFIKKSPPGNDDQLWLVM
EFCGAGSVTDLVKNTKGNALKEDCIAYICREILRGLAHLHAHKVIHRDIKGQNVLLTENAEVKLVDFGVSAQLDRTVGRRNTFIGTPYWMAPEVIACDENPDATY
DYRSDIWSLGITAIEMAEGAPPLCDMHPMRALFLIPRNPPPRLKSKKWSKKFIDFIDTCLIKTYLSRPPTEQLLKFPFIRDQPTERQVRIQLKDHIDRSRKKRGE
KEETEYEYSGSEEEDDSHGEEGEPSSIMNVPGESTLRREFLRLQQENKSNSEALKQQQQLQQQQQRDPEAHIKHLLHQRQRRIEEQKEERRRVEEQQRREREQRK
LQEKEQQRRLEDMQALRREEERRQAEREQEYKRKQLEEQRQSERLQRQLQQEHAYLKSLQQQQQQQQLQKQQQQQLLPGDRKPLYHYGRGMNPADKPAWAREVEE
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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 (1) 1 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top