AutismKB 2.0

Evidence Details for FRAS1


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Basic Information Top
Gene Symbol:FRAS1 ( DKFZp686I05113,DKFZp686P08111,FLJ14927,FLJ22031,KIAA1500 )
Gene Full Name: Fraser syndrome 1
Band: 4q21.21
Quick LinksEntrez ID:80144; OMIM: 607830; Uniprot ID:FRAS1_HUMAN; ENSEMBL ID: ENSG00000138759; HGNC ID: 19185
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>FRAS1|80144|nucleotide
ATGGGTGTCCTCAAAGTGTGGCTCGGGCTGGCCCTAGCGTTGGCGGAATTTGCAGTATTGCCTCATCATTCCGAAGGTGCTTGTGTCTATCAGGATTCCTTGTTG
GCGGATGCCACAATTTGGAAGCCCGATTCATGCCAGAGCTGCCGTTGCCATGGTGATATTGTTATCTGCAAACCTGCTGTTTGCAGAAACCCTCAATGTGCCTTT
GAGAAGGGAGAAGTGCTTCAAATAGCTGCCAACCAATGCTGTCCTGAGTGTGTTTTGAGGACTCCAGGATCTTGCCATCATGAAAAGAAAATCCATGAGCATGGG
ACAGAATGGGCCTCTTCTCCATGTAGTGTGTGCTCTTGCAATCATGGGGAAGTCCGATGTACCCCCCAACCATGCCCACCGCTGTCATGTGGACACCAGGAGCTG
GCATTCATCCCTGAAGGAAGCTGCTGCCCAGTTTGTGTGGGCCTTGGGAAACCCTGTTCCTATGAAGGCCATGTGTTTCAGGATGGGGAGGACTGGCGGCTGAGC
CGGTGTGCCAAATGTCTGTGTAGAAATGGGGTTGCCCAGTGCTTCACAGCTCAGTGTCAGCCTCTATTTTGTAACCAGGATGAGACTGTAGTCCGAGTCCCTGGA
AAATGTTGCCCGCAGTGCTCTGCAAGATCCTGCTCTGCAGCTGGCCAAGTATACGAGCATGGTGAGCAGTGGAGCGAAAATGCCTGCACCACGTGTATATGTGAC
CGGGGTGAGGTCAGGTGTCACAAGCAGGCCTGCCTGCCCCTGAGATGCGGAAAGGGTCAGAGCAGGGCTCGGCGTCATGGGCAATGCTGTGAGGAATGTGTGTCT
CCTGCCGGGAGCTGCTCCTATGATGGAGTTGTGCGGTACCAGGACGAAATGTGGAAGGGCTCGGCCTGTGAGTTCTGCATGTGTGATCATGGCCAAGTGACCTGC
CAGACTGGAGAGTGTGCCAAAGTGGAGTGTGCCCGGGATGAAGAATTAATTCACTTAGATGGAAAGTGTTGTCCTGAATGCATTTCAAGGAATGGTTATTGTGTT
TATGAAGAAACTGGAGAATTTATGTCATCAAATGCTAGTGAAGTTAAACGTATTCCAGAGGGAGAGAAGTGGGAAGATGGCCCTTGCAAGGTGTGTGAGTGCCGA
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>FRAS1|80144|protein
MGVLKVWLGLALALAEFAVLPHHSEGACVYQDSLLADATIWKPDSCQSCRCHGDIVICKPAVCRNPQCAFEKGEVLQIAANQCCPECVLRTPGSCHHEKKIHEHG
TEWASSPCSVCSCNHGEVRCTPQPCPPLSCGHQELAFIPEGSCCPVCVGLGKPCSYEGHVFQDGEDWRLSRCAKCLCRNGVAQCFTAQCQPLFCNQDETVVRVPG
KCCPQCSARSCSAAGQVYEHGEQWSENACTTCICDRGEVRCHKQACLPLRCGKGQSRARRHGQCCEECVSPAGSCSYDGVVRYQDEMWKGSACEFCMCDHGQVTC
QTGECAKVECARDEELIHLDGKCCPECISRNGYCVYEETGEFMSSNASEVKRIPEGEKWEDGPCKVCECRGAQVTCYEPSCPPCPVGTLALEVKGQCCPDCTSVH
CHPDCLTCSQSPDHCDLCQDPTKLLQNGWCVHSCGLGFYQAGSLCLACQPQCSTCTSGLECSSCQPPLLMRHGQCVPTCGDGFYQDRHSCAVCHESCAGCWGPTE
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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) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top