AutismKB 2.0

Evidence Details for MYO19


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Basic Information Top
Gene Symbol:MYO19 ( FLJ22865,MYOHD1 )
Gene Full Name: myosin XIX
Band: 17q12
Quick LinksEntrez ID:80179; OMIM: NA; Uniprot ID:MYO19_HUMAN; ENSEMBL ID: ENSG00000141140; HGNC ID: 26234
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MYO19|80179|nucleotide
ATGCTCCAGCAGGTCAATGGCCACAATCCGGGGTCTGATGGCCAAGCCAGGGAGTACCTCAGAGAAGACCTGCAGGAGTTCCTGGGTGGGGAGGTCCTGCTGTAC
AAACTGGATGACCTCACCAGGGTGAATCCTGTGACACTAGAGACAGTCCTGAGGTGCCTGCAGGCCCGGTACATGGCAGACACATTCTACACCAATGCTGGCTGC
ACCCTGGTAGCCTTGAACCCCTTCAAGCCTGTTCCTCAGCTCTACTCGCCCGAGCTAATGAGAGAGTACCATGCTGCGCCTCAGCCCCAGAAACTGAAGCCCCAT
GTGTTCACTGTGGGTGAACAGACCTACAGGAATGTCAAGAGCCTGATTGAACCAGTCAACCAGTCTATTGTTGTCAGTGGAGAGAGTGGTGCTGGAAAGACATGG
ACGTCTCGCTGCCTAATGAAGTTCTATGCTGTGGTGGCCACCTCACCTGCATCTTGGGAGAGCCACAAGATTGCAGAGAGGATAGAACAGAGGATCCTGAACTCC
AACCCTGTCATGGAAGCTTTTGGGAATGCGTGTACACTGAGGAATAACAACAGCAGTCGCTTTGGGAAGTTCATCCAGCTCCAGCTGAACAGGGCTCAGCAAATG
ACTGGAGCCGCAGTCCAGACCTACCTCCTAGAGAAAACTCGAGTGGCCTGCCAGGCTTCCAGTGAGAGGAACTTCCACATCTTCTATCAGATTTGCAAAGGAGCC
AGTGAGGACGAGAGGCTCCAGTGGCACCTTCCTGAGGGAGCTGCCTTCTCCTGGCTGCCCAACCCAGAGAGGAGCTTAGAAGAGGATTGTTTTGAGGTGACCAGA
GAGGCCATGCTCCATTTGGGCATTGACACCCCTACCCAGAACAACATCTTTAAGGTCAGAAGAAAAGCCACGCCACTTAAGTTTGGCAGAGATGACGGGCAGCCC
TTTGCATAG

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>MYO19|80179|protein
MLQQVNGHNPGSDGQAREYLREDLQEFLGGEVLLYKLDDLTRVNPVTLETVLRCLQARYMADTFYTNAGCTLVALNPFKPVPQLYSPELMREYHAAPQPQKLKPH
VFTVGEQTYRNVKSLIEPVNQSIVVSGESGAGKTWTSRCLMKFYAVVATSPASWESHKIAERIEQRILNSNPVMEAFGNACTLRNNNSSRFGKFIQLQLNRAQQM
TGAAVQTYLLEKTRVACQASSERNFHIFYQICKGASEDERLQWHLPEGAAFSWLPNPERSLEEDCFEVTREAMLHLGIDTPTQNNIFKVRRKATPLKFGRDDGQP
FA

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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 (5) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Roberts JL, 2014 - aCGH;FISH--autism - - - - 1 - 1
Kanduri C, 2016 Finnish -autism 83 - - - 257 288 545
Linkage Studies Top