AutismKB 2.0

Evidence Details for AMPD1


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Basic Information Top
Gene Symbol:AMPD1 ( MAD,MADA )
Gene Full Name: adenosine monophosphate deaminase 1
Band: 1p13.2
Quick LinksEntrez ID:270; OMIM: 102770; Uniprot ID:AMPD1_HUMAN; ENSEMBL ID: ENSG00000116748; HGNC ID: 468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AMPD1|270|nucleotide
ATGAATGTCAGGATATTTTATAGTGTCAGTCAGTCACCCCACAGTCTCCTCTCTCTTCTTTTCTACTGTGCTATCCTAGAATCAAGGATTTCAGCAACAATGCCT
CTGTTCAAACTCCCAGCTGAAGAGAAACAAATTGATGATGCAATGCGCAACTTTGCTGAAAAAGTGTTTGCCTCTGAAGTCAAAGATGAAGGAGGTCGTCAGGAG
ATTTCCCCCTTTGATGTGGATGAGATCTGTCCGATTTCTCATCATGAGATGCAAGCACACATATTCCATCTGGAGACTCTGTCCACCTCCACAGAAGCCAGGAGA
AAAAAGCGTTTCCAAGGACGGAAGACTGTTAATTTGTCCATTCCACTAAGTGAAACATCTTCCACCAAACTGTCCCACATTGATGAATACATTTCCTCATCTCCA
ACCTACCAGACCGTGCCTGATTTTCAGAGAGTGCAGATTACTGGTGACTATGCCTCTGGGGTTACAGTTGAAGATTTTGAAATTGTTTGCAAAGGTCTGTATCGG
GCACTATGCATACGTGAGAAATACATGCAGAAGTCGTTTCAGAGGTTCCCTAAAACCCCTTCCAAATACTTGCGGAACATTGATGGTGAGGCTTGGGTAGCAAAT
GAGAGCTTCTATCCAGTCTTTACTCCTCCTGTGAAGAAGGGAGAGGACCCCTTCCGAACAGACAACCTTCCTGAAAACCTGGGCTATCACCTCAAAATGAAGGAC
GGTGTAGTTTACGTCTATCCTAATGAAGCAGCAGTCAGCAAAGATGAGCCTAAGCCACTTCCTTACCCAAATCTGGACACCTTCTTAGACGATATGAATTTTTTA
CTTGCTTTAATTGCTCAAGGACCTGTTAAGACCTATACCCACCGGCGCCTGAAGTTCCTCTCCTCCAAGTTCCAGGTCCATCAGATGCTTAACGAGATGGACGAG
TTAAAGGAGCTGAAAAACAACCCCCACCGAGATTTTTATAACTGCAGGAAGGTGGACACCCATATCCATGCAGCCGCTTGCATGAACCAGAAACATCTGCTGCGT
TTTATTAAGAAATCTTACCAAATTGATGCTGACAGAGTGGTCTATAGCACCAAAGAGAAGAATCTGACCCTAAAGGAACTTTTTGCTAAATTAAAAATGCATCCT
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>AMPD1|270|protein
MNVRIFYSVSQSPHSLLSLLFYCAILESRISATMPLFKLPAEEKQIDDAMRNFAEKVFASEVKDEGGRQEISPFDVDEICPISHHEMQAHIFHLETLSTSTEARR
KKRFQGRKTVNLSIPLSETSSTKLSHIDEYISSSPTYQTVPDFQRVQITGDYASGVTVEDFEIVCKGLYRALCIREKYMQKSFQRFPKTPSKYLRNIDGEAWVAN
ESFYPVFTPPVKKGEDPFRTDNLPENLGYHLKMKDGVVYVYPNEAAVSKDEPKPLPYPNLDTFLDDMNFLLALIAQGPVKTYTHRRLKFLSSKFQVHQMLNEMDE
LKELKNNPHRDFYNCRKVDTHIHAAACMNQKHLLRFIKKSYQIDADRVVYSTKEKNLTLKELFAKLKMHPYDLTVDSLDVHAGRQTFQRFDKFNDKYNPVGASEL
RDLYLKTDNYINGEYFATIIKEVGADLVEAKYQHAEPRLSIYGRSPDEWSKLSSWFVCNRIHCPNMTWMIQVPRIYDVFRSKNFLPHFGKMLENIFMPVFEATIN
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top