AutismKB 2.0

Evidence Details for MYRIP


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Basic Information Top
Gene Symbol:MYRIP ( DKFZp586F1018,FLJ44025,MGC130034,MGC130035,SLAC2-C,SLAC2C )
Gene Full Name: myosin VIIA and Rab interacting protein
Band: 3p22.1
Quick LinksEntrez ID:25924; OMIM: 611790; Uniprot ID:MYRIP_HUMAN; ENSEMBL ID: ENSG00000170011; HGNC ID: 19156
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYRIP|25924|nucleotide
ATGGGGAGGAAGCTGGACCTGTCTGGTTTGACTGATGATGAAACAGAGCATGTTCTTCAGGTGGTTCAAAGAGACTTCAATCTTCGCAAAAAAGAAGAAGAACGA
CTAAGTGAGCTGAAGCAGAAGCTGGATGAGGAAGGCAGCAAGTGCAGCATCCTCTCGAAGCACCAGCAGTTTGTGGAGCACTGCTGCATGCGCTGCTGCTCGCCC
TTCACCTTCCTCGTCAACACCAAGCGCCAGTGTGGAGATTGCAAATTCAATGTCTGCAAGAGCTGCTGCTCCTACCAGAAGCACGAAAAGGCCTGGGTCTGCTGC
GTCTGCCAGCAAGCGAGGCTTCTGAGGGCCCAATCTCTGGAATGGTTCTACAATAATGTGAAGAGCCGCTTCAAGCGCTTTGGCAGTGCCAAGGTTCTGAAGAAC
CTGTACAGGAAGCACCGGCTGGAGAGTGGCGCGTGCTTCGACATTCTAGGAGGAAGCCTTTTTGAGTCAAACCTGGAGAATGAAGGAAGCATTTCTGGCAGTGAT
TCAACATTTTATAGGCAGTCAGAAGGACATAGTGTGATGGACACCTTGGCTGTGGCCCTACGGGTGGCTGAAGAGGCCATTGAGGAAGCAATTTCCAAAGCAGAG
GCATATGGGGACAGCCTGGACAAGCAAAATGAGGCCAGTTACCTGCGGGACCACAAGGAGGAGCTAACTGAGGAACTGGCCACGACAATCCTGCAGAAGATTATA
CGAAAACAGAAGAGCAAAAGTGAGCAGCAAGTGGAAGAAGAGCCAGGATGGCCACATCCCCAGAGTTGCAGCACAAAGGTGGCAGATGAGGGGACCTCAGCATCC
CCTGGAGGCTACCGTGCTCCCGCTGCCCTCTGGAGGTCCCAGTCTGCCTTCTCAATCACTGGAGAAGAAGCCCTGAAGACCCCTCCAGTGGAGGCTCCATCGAGG
CAGCCAAGGGACCAAGGCCAACACCCGAGAGCAGAGTCTGCTCTGCCCAGCTGGAAGAGTGTGGACAGGCTGGATGAAACAAACCTGGCCCCAGTTTTGCAGAGC
CCCGACGGGAACTGGGTGGCCCTGAAGGATGGCGCTCCACCCCCCACCCGACTACTGGCCAAACCTAAGAGCGGGACGTTTCAGGCCCTGGAGGTGGCCTCCAGT
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>MYRIP|25924|protein
MGRKLDLSGLTDDETEHVLQVVQRDFNLRKKEEERLSELKQKLDEEGSKCSILSKHQQFVEHCCMRCCSPFTFLVNTKRQCGDCKFNVCKSCCSYQKHEKAWVCC
VCQQARLLRAQSLEWFYNNVKSRFKRFGSAKVLKNLYRKHRLESGACFDILGGSLFESNLENEGSISGSDSTFYRQSEGHSVMDTLAVALRVAEEAIEEAISKAE
AYGDSLDKQNEASYLRDHKEELTEELATTILQKIIRKQKSKSEQQVEEEPGWPHPQSCSTKVADEGTSASPGGYRAPAALWRSQSAFSITGEEALKTPPVEAPSR
QPRDQGQHPRAESALPSWKSVDRLDETNLAPVLQSPDGNWVALKDGAPPPTRLLAKPKSGTFQALEVASSVASAYDEMGSDSEEDFDWSEALSKLCPRSRALPRN
PQPQPTQAQSSDQGPIAASPSSALSPNPEAMCSDSETSSAGSSREVGHQARLSWLQRKAPRNPAAEKMRLHGELDVNFNPQLASRETSDSSEPEEAPHTTDRRAR
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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 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Linkage Studies Top