AutismKB 2.0

Evidence Details for ROCK1


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Basic Information Top
Gene Symbol:ROCK1 ( MGC131603,MGC43611,P160ROCK,PRO0435 )
Gene Full Name: Rho-associated, coiled-coil containing protein kinase 1
Band: 18q11.1
Quick LinksEntrez ID:6093; OMIM: 601702; Uniprot ID:ROCK1_HUMAN; ENSEMBL ID: ENSG00000067900; HGNC ID: 10251
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ROCK1|6093|nucleotide
ATGTCGACTGGGGACAGTTTTGAGACTCGATTTGAAAAAATGGACAACCTGCTGCGGGATCCCAAATCGGAAGTGAATTCGGATTGTTTGCTGGATGGATTGGAT
GCTTTGGTATATGATTTGGATTTTCCTGCCTTAAGAAAAAACAAAAATATTGACAACTTTTTAAGCAGATATAAAGACACAATAAATAAAATCAGAGATTTACGA
ATGAAAGCTGAAGATTATGAAGTAGTGAAGGTGATTGGTAGAGGTGCATTTGGAGAAGTTCAATTGGTAAGGCATAAATCCACCAGGAAGGTATATGCTATGAAG
CTTCTCAGCAAATTTGAAATGATAAAGAGATCTGATTCTGCTTTTTTCTGGGAAGAAAGGGACATCATGGCTTTTGCCAACAGTCCTTGGGTTGTTCAGCTTTTT
TATGCATTCCAAGATGATCGTTATCTCTACATGGTGATGGAATACATGCCTGGTGGAGATCTTGTAAACTTAATGAGCAACTATGATGTGCCTGAAAAATGGGCA
CGATTCTATACTGCAGAAGTAGTTCTTGCATTGGATGCAATCCATTCCATGGGTTTTATTCACAGAGATGTGAAGCCTGATAACATGCTGCTGGATAAATCTGGA
CATTTGAAGTTAGCAGATTTTGGTACTTGTATGAAGATGAATAAGGAAGGCATGGTACGATGTGATACAGCGGTTGGAACACCTGATTATATTTCCCCTGAAGTA
TTAAAATCCCAAGGTGGTGATGGTTATTATGGAAGAGAATGTGACTGGTGGTCGGTTGGGGTATTTTTATACGAAATGCTTGTAGGTGATACACCTTTTTATGCA
GATTCTTTGGTTGGAACTTACAGTAAAATTATGAACCATAAAAATTCACTTACCTTTCCTGATGATAATGACATATCAAAAGAAGCAAAAAACCTTATTTGTGCC
TTCCTTACTGACAGGGAAGTGAGGTTAGGGCGAAATGGTGTAGAAGAAATCAAACGACATCTCTTCTTCAAAAATGACCAGTGGGCTTGGGAAACGCTCCGAGAC
ACTGTAGCACCAGTTGTACCCGATTTAAGTAGTGACATTGATACTAGTAATTTTGATGACTTGGAAGAAGATAAAGGAGAGGAAGAAACATTCCCTATTCCTAAA
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>ROCK1|6093|protein
MSTGDSFETRFEKMDNLLRDPKSEVNSDCLLDGLDALVYDLDFPALRKNKNIDNFLSRYKDTINKIRDLRMKAEDYEVVKVIGRGAFGEVQLVRHKSTRKVYAMK
LLSKFEMIKRSDSAFFWEERDIMAFANSPWVVQLFYAFQDDRYLYMVMEYMPGGDLVNLMSNYDVPEKWARFYTAEVVLALDAIHSMGFIHRDVKPDNMLLDKSG
HLKLADFGTCMKMNKEGMVRCDTAVGTPDYISPEVLKSQGGDGYYGRECDWWSVGVFLYEMLVGDTPFYADSLVGTYSKIMNHKNSLTFPDDNDISKEAKNLICA
FLTDREVRLGRNGVEEIKRHLFFKNDQWAWETLRDTVAPVVPDLSSDIDTSNFDDLEEDKGEEETFPIPKAFVGNQLPFVGFTYYSNRRYLSSANPNDNRTSSNA
DKSLQESLQKTIYKLEEQLHNEMQLKDEMEQKCRTSNIKLDKIMKELDEEGNQRRNLESTVSQIEKEKMLLQHRINEYQRKAEQENEKRRNVENEVSTLKDQLED
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 2 (4)
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
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top