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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
O'Roak BJ, 2012 1703 209 242 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Michaelson JJ, 2012 - 10 565 Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
C Yuen RK, 2017 1625 - 237 Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018