AutismKB 2.0

Evidence Details for FAM189A2


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Basic Information Top
Gene Symbol:FAM189A2 ( C9orf61,MGC142243,MGC142245,RP11-548B3.1,X123 )
Gene Full Name: family with sequence similarity 189, member A2
Band: 9q21.12
Quick LinksEntrez ID:9413; OMIM: 607710; Uniprot ID:F1892_HUMAN; ENSEMBL ID: ENSG00000135063; HGNC ID: 24820
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FAM189A2|9413|nucleotide
ATGATACTCCTGGTAAACCTCTTTGTGCTGCTCTCTGTGGTTTGTGTCCTCTTAAATCTAGCTGGATTTATCCTAGGCTGCCAAGGGGCCCAGTTTGTGTCCAGC
GTGCCCAGGTGTGATCTGGTGGACTTAGGTGAAGGCAAGATTTGCTTCTGTTGTGAAGAATTTCAACCAGCCAAGTGCACAGACAAAGAAAATGCCTTGAAACTC
TTTCCGGTTCAGCCCTGTAGTGCTGTTCACCTTCTACTTAAGAAAGTCCTCTTTGCCCTGTGTGCCTTGAATGCCCTGACCACCACCGTCTGCTTGGTGGCCGCT
GCCCTCCGCTACCTCCAGATATTCGCAACCAGGAGATCCTGCATCGATGAATCCCAGATTTCTGCTGAAGAAGCGGAGGATCATGGACGCATCCCCGACCCTGAT
GATTTTGTGCCGCCTGTGCCTCCCCCTTCCTATTTTGCCACGTTTTACTCGTGCACACCCCGGATGAACCGCAGGATGGTTGGTCCTGATGTTATTCCCCTGCCA
CACATCTACGGAGCTCGAATCAAAGGTGTGGAAGTGTTCTGTCCTCTGGATCCCCCGCCGCCATATGAAGCTGTGGTGAGCCAGATGGACCAGGAGCAGGGATCT
TCATTCCAAATGTCAGAAGGATCAGAAGCTGCTGTGATCCCATTGGATCTGGGCTGCACACAAGTGACTCAAGATGGGGACATTCCTAACATACCTGCCGAAGAA
AATGCATCCACCTCAACTCCCAGTTCAACCCTGGTGCGTCCTATCAGAAGCCGGAGAGCCCTCCCACCCTTGAGGACCAGGTCGAAGAGTGACCCTGTGCTCCAT
CCTTCTGAGGAGAGAGCTGCCCCAGTGCTCAGCTGTGAAGCTGCAACACAGACTGAAAGGAGACTGGATCTGGCTGCAGTGACTCTGAGGAGAGGCTTGAGATCT
AGAGCTTCGCGATGCAGACCGCGGTCTTTGATAGATTACAAATCCTACATGGACACCAAGCTGCTGGTGGCGAGGTTCCTGGAGCAGTCCTCTTGTACCATGACC
CCAGACATCCATGAACTTGTAGAAAACATTAAATCTGTTTTGAAATCTGATGAGGAGCACATGGAGGAAGCCATCACAAGTGCCAGTTTTCTAGAACAGATAATG
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>FAM189A2|9413|protein
MILLVNLFVLLSVVCVLLNLAGFILGCQGAQFVSSVPRCDLVDLGEGKICFCCEEFQPAKCTDKENALKLFPVQPCSAVHLLLKKVLFALCALNALTTTVCLVAA
ALRYLQIFATRRSCIDESQISAEEAEDHGRIPDPDDFVPPVPPPSYFATFYSCTPRMNRRMVGPDVIPLPHIYGARIKGVEVFCPLDPPPPYEAVVSQMDQEQGS
SFQMSEGSEAAVIPLDLGCTQVTQDGDIPNIPAEENASTSTPSSTLVRPIRSRRALPPLRTRSKSDPVLHPSEERAAPVLSCEAATQTERRLDLAAVTLRRGLRS
RASRCRPRSLIDYKSYMDTKLLVARFLEQSSCTMTPDIHELVENIKSVLKSDEEHMEEAITSASFLEQIMAPLQPSTSRAHKLPSRRQPGLLHLQSCGDLHTFTP
AGRPRAERRPRRVEAERPHSLIGVIRETVL
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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 (1) 0 (0) 0 (0) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (3)
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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Linkage Studies Top