AutismKB 2.0

Evidence Details for ARAF


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Basic Information Top
Gene Symbol:ARAF ( A-RAF,ARAF1,PKS2,RAFA1 )
Gene Full Name: v-raf murine sarcoma 3611 viral oncogene homolog
Band: Xp11.3
Quick LinksEntrez ID:369; OMIM: 311010; Uniprot ID:ARAF_HUMAN; ENSEMBL ID: ENSG00000078061; HGNC ID: 646
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ARAF|369|nucleotide
ATGGAGCCACCACGGGGCCCCCCTGCCAATGGGGCCGAGCCATCCCGGGCAGTGGGCACCGTCAAAGTATACCTGCCCAACAAGCAACGCACGGTGGTGACTGTC
CGGGATGGCATGAGTGTCTACGACTCTCTAGACAAGGCCCTGAAGGTGCGGGGTCTAAATCAGGACTGCTGTGTGGTCTACCGACTCATCAAGGGACGAAAGACG
GTCACTGCCTGGGACACAGCCATTGCTCCCCTGGATGGCGAGGAGCTCATTGTCGAGGTCCTTGAAGATGTCCCGCTGACCATGCACAATTTTGTACGGAAGACC
TTCTTCAGCCTGGCGTTCTGTGACTTCTGCCTTAAGTTTCTGTTCCATGGCTTCCGTTGCCAAACCTGTGGCTACAAGTTCCACCAGCATTGTTCCTCCAAGGTC
CCCACAGTCTGTGTTGACATGAGTACCAACCGCCAACAGTTCTACCACAGTGTCCAGGATTTGTCCGGAGGCTCCAGACAGCATGAGGCTCCCTCGAACCGCCCC
CTGAATGAGTTGCTAACCCCCCAGGGTCCCAGCCCCCGCACCCAGCACTGTGACCCGGAGCACTTCCCCTTCCCTGCCCCAGCCAATGCCCCCCTACAGCGCATC
CGCTCCACGTCCACTCCCAACGTCCATATGGTCAGCACCACGGCCCCCATGGACTCCAACCTCATCCAGCTCACTGGCCAGAGTTTCAGCACTGATGCTGCCGGT
AGTAGAGGAGGTAGTGATGGAACCCCCCGGGGGAGCCCCAGCCCAGCCAGCGTGTCCTCGGGGAGGAAGTCCCCACATTCCAAGTCACCAGCAGAGCAGCGCGAG
CGGAAGTCCTTGGCCGATGACAAGAAGAAAGTGAAGAACCTGGGGTACCGGGACTCAGGCTATTACTGGGAGGTACCACCCAGTGAGGTGCAGCTGCTGAAGAGG
ATCGGGACGGGCTCGTTTGGCACCGTGTTTCGAGGGCGGTGGCATGGCGATGTGGCCGTGAAGGTGCTCAAGGTGTCCCAGCCCACAGCTGAGCAGGCCCAGGCT
TTCAAGAATGAGATGCAGGTGCTCAGGAAGACGCGACATGTCAACATCTTGCTGTTTATGGGCTTCATGACCCGGCCGGGATTTGCCATCATCACACAGTGGTGT
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>ARAF|369|protein
MEPPRGPPANGAEPSRAVGTVKVYLPNKQRTVVTVRDGMSVYDSLDKALKVRGLNQDCCVVYRLIKGRKTVTAWDTAIAPLDGEELIVEVLEDVPLTMHNFVRKT
FFSLAFCDFCLKFLFHGFRCQTCGYKFHQHCSSKVPTVCVDMSTNRQQFYHSVQDLSGGSRQHEAPSNRPLNELLTPQGPSPRTQHCDPEHFPFPAPANAPLQRI
RSTSTPNVHMVSTTAPMDSNLIQLTGQSFSTDAAGSRGGSDGTPRGSPSPASVSSGRKSPHSKSPAEQRERKSLADDKKKVKNLGYRDSGYYWEVPPSEVQLLKR
IGTGSFGTVFRGRWHGDVAVKVLKVSQPTAEQAQAFKNEMQVLRKTRHVNILLFMGFMTRPGFAIITQWCEGSSLYHHLHVADTRFDMVQLIDVARQTAQGMDYL
HAKNIIHRDLKSNNIFLHEGLTVKIGDFGLATVKTRWSGAQPLEQPSGSVLWMAAEVIRMQDPNPYSFQSDVYAYGVVLYELMTGSLPYSHIGCRDQIIFMVGRG
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Edens, 2011 Austria FISH, aCGHautism - - - - 1 - 1
Edens, 2011 Honduras aCGHautism - - - - 1 - 1
Linkage Studies Top