AutismKB 2.0

Evidence Details for MYOZ3


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Basic Information Top
Gene Symbol:MYOZ3 ( CS-3,CS3,FRP3 )
Gene Full Name: myozenin 3
Band: 5q33.1
Quick LinksEntrez ID:91977; OMIM: 610735; Uniprot ID:MYOZ3_HUMAN; ENSEMBL ID: ENSG00000164591; HGNC ID: 18565
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYOZ3|91977|nucleotide
ATGATCCCCAAGGAGCAGAAGGGGCCAGTGATGGCTGCCATGGGGGACCTCACTGAACCAGTCCCTACGCTGGACCTGGGCAAGAAGCTGAGCGTGCCCCAGGAC
CTGATGATGGAGGAGCTGTCACTACGCAACAACAGAGGGTCCCTCCTCTTCCAGAAGAGGCAGCGCCGTGTGCAGAAGTTCACTTTCGAGTTAGCAGCCAGCCAG
CGGGCGATGCTGGCCGGAAGCGCCAGGAGGAAGGTGACTGGAACAGCGGAGTCGGGGACGGTTGCCAATGCCAATGGCCCTGAGGGGCCGAACTACCGCTCGGAG
CTCCACATCTTCCCGGCCTCACCCGGGGCCTCACTCGGGGGTCCCGAGGGCGCCCACCCTGCAGCCGCCCCTGCTGGGTGCGTCCCCAGCCCCAGCGCCCTGGCG
CCAGGCTATGCGGAGCCGCTGAAGGGCGTCCCGCCAGAGAAGTTCAACCACACCGCCATCTCCAAGGGCTACCGCTGCCCTTGGCAGGAGTTCGTCAGCTACCGG
GACTACCAGAGCGATGGCCGAAGTCACACCCCCAGCCCCAACGACTACCGAAATTTCAACAAGACCCCGGTGCCATTTGGAGGACCCCTCGTGGGGGGCACTTTT
CCCAGGCCAGGCACCCCCTTCATCCCGGAGCCCCTCAGTGGCTTGGAACTCCTCCGTCTCAGACCCAGCTTCAACAGAGTGGCCCAGGGCTGGGTCCGTAACCTC
CCAGAGTCCGAGGAGCTGTAG



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>MYOZ3|91977|protein
MIPKEQKGPVMAAMGDLTEPVPTLDLGKKLSVPQDLMMEELSLRNNRGSLLFQKRQRRVQKFTFELAASQRAMLAGSARRKVTGTAESGTVANANGPEGPNYRSE
LHIFPASPGASLGGPEGAHPAAAPAGCVPSPSALAPGYAEPLKGVPPEKFNHTAISKGYRCPWQEFVSYRDYQSDGRSHTPSPNDYRNFNKTPVPFGGPLVGGTF
PRPGTPFIPEPLSGLELLRLRPSFNRVAQGWVRNLPESEEL


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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top