AutismKB 2.0

Evidence Details for RASSF8


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Basic Information Top
Gene Symbol:RASSF8 ( C12orf2,DKFZp434O0227,FLJ11542,HOJ1 )
Gene Full Name: Ras association (RalGDS/AF-6) domain family (N-terminal) member 8
Band: 12p12.1
Quick LinksEntrez ID:11228; OMIM: 608231; Uniprot ID:RASF8_HUMAN; ENSEMBL ID: ENSG00000123094; HGNC ID: 13232
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASSF8|11228|nucleotide
ATGGAACTTAAAGTATGGGTGGATGGAGTTCAGAGGATTGTTTGTGGAGTCACTGAAGTCACAACTTGCCAGGAGGTTGTCATAGCCTTAGCTCAAGCAATAGGT
CGAACTGGAAGGTACACCCTTATAGAGAAATGGAGAGATACTGAAAGACACTTAGCACCTCATGAAAATCCTATCATATCCTTAAACAAATGGGGGCAGTATGCT
AGTGATGTGCAGCTCATTCTACGACGAACTGGGCCGTCTCTCAGTGAGCGACCCACTTCAGACAGTGTGGCTCGAATTCCTGAAAGAACTTTATACAGGCAGAGT
CTGCCCCCCTTAGCTAAACTGAGGCCTCAGATTGACAAATCAATCAAAAGGAGGGAACCGAAAAGGAAATCACTGACATTTACAGGAGGTGCCAAAGGATTAATG
GACATTTTTGGAAAAGGTAAAGAAACTGAGTTTAAGCAAAAGGTGCTGAATAACTGCAAAACAACAGCAGATGAGTTGAAGAAGCTAATCCGTCTGCAGACAGAG
AAGCTTCAATCCATTGAGAAACAGCTGGAATCTAATGAAATAGAAATAAGATTTTGGGAGCAAAAGTATAATTCCAACCTTGAAGAGGAAATTGTCCGTCTAGAG
CAAAAGATCAAAAGAAACGATGTAGAAATTGAGGAGGAAGAATTCTGGGAAAATGAATTACAGATTGAACAGGAAAATGAAAAACAGCTGAAGGATCAACTTCAA
GAAATAAGACAGAAAATAACAGAATGTGAAAACAAATTAAAGGACTATTTGGCACAGATCCGGACTATGGAAAGTGGTCTTGAAGCAGAAAAATTGCAACGGGAA
GTTCAAGAGGCACAGGTCAATGAGGAAGAGGTTAAAGGAAAGATCGGTAAGGTCAAAGGGGAGATTGACATTCAAGGCCAGCAGAGTCTGAGGTTGGAAAATGGC
ATCAAAGCTGTGGAAAGATCTCTTGGACAAGCCACCAAACGCTTACAGGACAAAGAACAGGAACTGGAGCAGTTGACTAAGGAGTTGCGGCAAGTCAATCTCCAG
CAGTTCATCCAGCAGACAGGGACAAAAGTTACCGTTTTGCCAGCGGAGCCCATTGAAATAGAGGCCTCACATGCAGACATTGAAAGGGAGGCACCATTCCAGTCT
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>RASSF8|11228|protein
MELKVWVDGVQRIVCGVTEVTTCQEVVIALAQAIGRTGRYTLIEKWRDTERHLAPHENPIISLNKWGQYASDVQLILRRTGPSLSERPTSDSVARIPERTLYRQS
LPPLAKLRPQIDKSIKRREPKRKSLTFTGGAKGLMDIFGKGKETEFKQKVLNNCKTTADELKKLIRLQTEKLQSIEKQLESNEIEIRFWEQKYNSNLEEEIVRLE
QKIKRNDVEIEEEEFWENELQIEQENEKQLKDQLQEIRQKITECENKLKDYLAQIRTMESGLEAEKLQREVQEAQVNEEEVKGKIGKVKGEIDIQGQQSLRLENG
IKAVERSLGQATKRLQDKEQELEQLTKELRQVNLQQFIQQTGTKVTVLPAEPIEIEASHADIEREAPFQSGSLKRPGSSRQLPSNLRILQNPISSGFNPEGIYV

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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 (3) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (5)
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
Soysal, 2011 - aCGH--ASD - - - - 1 - 1
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top