AutismKB 2.0

Evidence Details for RASA4


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Basic Information Top
Gene Symbol:RASA4 ( CAPRI,FLJ59070,GAPL,KIAA0538,MGC131890,RASA4B )
Gene Full Name: RAS p21 protein activator 4
Band: 7q22.1
Quick LinksEntrez ID:10156; OMIM: 607943; Uniprot ID:RASL2_HUMAN; ENSEMBL ID: ENSG00000105808; HGNC ID: 23181
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>RASA4|10156|nucleotide
ATGGCCAAGCGCAGCTCGCTGTACATCCGCATCGTGGAGGGGAAGAACCTTCCCGCCAAGGACATCACTGGCAGCAGCGACCCCTACTGCATCGTGAAGGTGGAC
AATGAGCCCATCATCAGGACAGCCACAGTGTGGAAGACCCTGTGCCCCTTCTGGGGTGAGGAGTACCAAGTGCACCTGCCGCCCACCTTCCACGCTGTGGCTTTC
TATGTCATGGATGAGGATGCCCTCAGCCGGGACGACGTTATCGGAAAGGTCTGCCTTACAAGGGACACCATAGCCTCTCACCCTAAGGGTTTCAGCGGGTGGGCC
CACCTGACGGAGGTCGACCCCGATGAGGAGGTGCAGGGCGAGATCCACCTGCGGCTGGAAGTGTGGCCAGGGGCCCGGGCCTGCCGGCTACGCTGCTCTGTGCTG
GAGGCCAGGGATCTGGCCCCAAAGGACCGCAATGGCACATCTGACCCCTTCGTCCGAGTGCGCTACAAGGGCCGGACACGGGAGACCTCGATCGTGAAGAAGTCA
TGCTACCCACGCTGGAATGAGACGTTTGAATTTGAGCTGCAGGAGGGGGCCATGGAGGCGCTGTGCGTGGAGGCCTGGGACTGGGACCTTGTCAGCCGAAACGAC
TTCCTGGGCAAAGTGGTGATTGATGTCCAGAGACTGCGGGTGGTGCAGCAGGAGGAGGGCTGGTTCCGGCTGCAGCCCGACCAGTCCAAGAGCCGGCGGCATGAC
GAGGGCAACCTGGGCTCCTTGCAGCTGGAGGTGCGGCTGCGGGACGAGACGGTGCTGCCCTCCAGCTACTACCAGCCACTGGTGCACCTGCTGTGCCACGAGGTC
AAGCTGGGCATGCAGGGCCCAGGGCAGCTGATCCCACTCATCGAGGAGACAACCAGCACCGAGTGTCGCCAGGACGTGGCCACGAACCTGCTCAAGCTCTTCCTG
GGGCAGGGGCTGGCCAAGGACTTCCTGGACCTGCTCTTCCAGCTGGAGCTGAGTCGCACCAGTGAGACCAACACCCTGTTCCGGAGCAACTCTCTGGCCTCAAAG
TCCATGGAGTCTTTTCTGAAGGTGGCCGGGATGCAGTACCTGCACGGCGTCCTGGGCCCCATCATCAACAAGGTGTTTGAGGAGAAGAAGTACGTGGAGCTGGAC
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>RASA4|10156|protein
MAKRSSLYIRIVEGKNLPAKDITGSSDPYCIVKVDNEPIIRTATVWKTLCPFWGEEYQVHLPPTFHAVAFYVMDEDALSRDDVIGKVCLTRDTIASHPKGFSGWA
HLTEVDPDEEVQGEIHLRLEVWPGARACRLRCSVLEARDLAPKDRNGTSDPFVRVRYKGRTRETSIVKKSCYPRWNETFEFELQEGAMEALCVEAWDWDLVSRND
FLGKVVIDVQRLRVVQQEEGWFRLQPDQSKSRRHDEGNLGSLQLEVRLRDETVLPSSYYQPLVHLLCHEVKLGMQGPGQLIPLIEETTSTECRQDVATNLLKLFL
GQGLAKDFLDLLFQLELSRTSETNTLFRSNSLASKSMESFLKVAGMQYLHGVLGPIINKVFEEKKYVELDPSKVEVKDVGCSGLHRPQTEAEVLEQSAQTLRAHL
GALLSALSRSVRACPAVVRATFRQLFRRVRERFPGAQHENVPFIAVTSFLCLRFFSPAIMSPKLFHLRERHADARTSRTLLLLAKAVQNVGNMDTPASRAKEAWM
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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) 1 (1) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top