AutismKB 2.0

Evidence Details for ANGPT1


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Basic Information Top
Gene Symbol:ANGPT1 ( AGP1,AGPT,ANG1 )
Gene Full Name: angiopoietin 1
Band: 8q23.1
Quick LinksEntrez ID:284; OMIM: 601667; Uniprot ID:ANGP1_HUMAN; ENSEMBL ID: ENSG00000154188; HGNC ID: 484
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ANGPT1|284|nucleotide
ATGACAGTTTTCCTTTCCTTTGCTTTCCTCGCTGCCATTCTGACTCACATAGGGTGCAGCAATCAGCGCCGAAGTCCAGAAAACAGTGGGAGAAGATATAACCGG
ATTCAACATGGGCAATGTGCCTACACTTTCATTCTTCCAGAACACGATGGCAACTGTCGTGAGAGTACGACAGACCAGTACAACACAAACGCTCTGCAGAGAGAT
GCTCCACACGTGGAACCGGATTTCTCTTCCCAGAAACTTCAACATCTGGAACATGTGATGGAAAATTATACTCAGTGGCTGCAAAAACTTGAGAATTACATTGTG
GAAAACATGAAGTCGGAGATGGCCCAGATACAGCAGAATGCAGTTCAGAACCACACGGCTACCATGCTGGAGATAGGAACCAGCCTCCTCTCTCAGACTGCAGAG
CAGACCAGAAAGCTGACAGATGTTGAGACCCAGGTACTAAATCAAACTTCTCGACTTGAGATACAGCTGCTGGAGAATTCATTATCCACCTACAAGCTAGAGAAG
CAACTTCTTCAACAGACAAATGAAATCTTGAAGATCCATGAAAAAAACAGTTTATTAGAACATAAAATCTTAGAAATGGAAGGAAAACACAAGGAAGAGTTGGAC
ACCTTAAAGGAAGAGAAAGAGAACCTTCAAGGCTTGGTTACTCGTCAAACATATATAATCCAGGAGCTGGAAAAGCAATTAAACAGAGCTACCACCAACAACAGT
GTCCTTCAGAAGCAGCAACTGGAGCTGATGGACACAGTCCACAACCTTGTCAATCTTTGCACTAAAGAAGGTGTTTTACTAAAGGGAGGAAAAAGAGAGGAAGAG
AAACCATTTAGAGACTGTGCAGATGTATATCAAGCTGGTTTTAATAAAAGTGGAATCTACACTATTTATATTAATAATATGCCAGAACCCAAAAAGGTGTTTTGC
AATATGGATGTCAATGGGGGAGGTTGGACTGTAATACAACATCGTGAAGATGGAAGTCTAGATTTCCAAAGAGGCTGGAAGGAATATAAAATGGGTTTTGGAAAT
CCCTCCGGTGAATATTGGCTGGGGAATGAGTTTATTTTTGCCATTACCAGTCAGAGGCAGTACATGCTAAGAATTGAGTTAATGGACTGGGAAGGGAACCGAGCC
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>ANGPT1|284|protein
MTVFLSFAFLAAILTHIGCSNQRRSPENSGRRYNRIQHGQCAYTFILPEHDGNCRESTTDQYNTNALQRDAPHVEPDFSSQKLQHLEHVMENYTQWLQKLENYIV
ENMKSEMAQIQQNAVQNHTATMLEIGTSLLSQTAEQTRKLTDVETQVLNQTSRLEIQLLENSLSTYKLEKQLLQQTNEILKIHEKNSLLEHKILEMEGKHKEELD
TLKEEKENLQGLVTRQTYIIQELEKQLNRATTNNSVLQKQQLELMDTVHNLVNLCTKEGVLLKGGKREEEKPFRDCADVYQAGFNKSGIYTIYINNMPEPKKVFC
NMDVNGGGWTVIQHREDGSLDFQRGWKEYKMGFGNPSGEYWLGNEFIFAITSQRQYMLRIELMDWEGNRAYSQYDRFHIGNEKQNYRLYLKGHTGTAGKQSSLIL
HGADFSTKDADNDNCMCKCALMLTGGWWFDACGPSNLNGMFYTAGQNHGKLNGIKWHYFKGPSYSLRSTTMMIRPLDF
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top