AutismKB 2.0

Evidence Details for AIM2


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Basic Information Top
Gene Symbol:AIM2 ( PYHIN4 )
Gene Full Name: absent in melanoma 2
Band: 1q23.1-q23.2
Quick LinksEntrez ID:9447; OMIM: 604578; Uniprot ID:AIM2_HUMAN; ENSEMBL ID: ENSG00000163568; HGNC ID: 357
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AIM2|9447|nucleotide
ATGGAGAGTAAATACAAGGAGATACTCTTGCTAACAGGCCTGGATAACATCACTGATGAGGAACTGGATAGGTTTAAGTTCTTTCTTTCAGACGAGTTTAATATT
GCCACAGGCAAACTACATACTGCAAACAGAATACAAGTAGCTACCTTGATGATTCAAAATGCTGGGGCGGTGTCTGCAGTGATGAAGACCATTCGTATTTTTCAG
AAGTTGAATTATATGCTTTTGGCAAAACGTCTTCAGGAGGAGAAGGAGAAAGTTGATAAGCAATACAAATCGGTAACAAAACCAAAGCCACTAAGTCAAGCTGAA
ATGAGTCCTGCTGCATCTGCAGCCATCAGAAATGATGTCGCAAAGCAACGTGCTGCACCAAAAGTCTCTCCTCATGTTAAGCCTGAACAGAAACAGATGGTGGCC
CAGCAGGAATCTATCAGAGAAGGGTTTCAGAAGCGCTGTTTGCCAGTTATGGTACTGAAAGCAAAGAAGCCCTTCACGTTTGAGACCCAAGAAGGCAAGCAGGAG
ATGTTTCATGCTACAGTGGCTACAGAAAAGGAATTCTTCTTTGTAAAAGTTTTTAATACACTGCTGAAAGATAAATTCATTCCAAAGAGAATAATTATAATAGCA
AGATATTATCGGCACAGTGGTTTCTTAGAGGTAAATAGCGCCTCACGTGTGTTAGATGCTGAATCTGACCAAAAGGTTAATGTCCCGCTGAACATTATCAGAAAA
GCTGGTGAAACCCCGAAGATCAACACGCTTCAAACTCAGCCCCTTGGAACAATTGTGAATGGTTTGTTTGTAGTCCAGAAGGTAACAGAAAAGAAGAAAAACATA
TTATTTGACCTAAGTGACAACACTGGGAAAATGGAAGTACTGGGGGTTAGAAACGAGGACACAATGAAATGTAAGGAAGGAGATAAGGTTCGACTTACATTCTTC
ACACTGTCAAAAAATGGAGAAAAACTACAGCTGACATCTGGAGTTCATAGCACCATAAAGGTTATTAAGGCCAAAAAAAAAACATAG

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>AIM2|9447|protein
MESKYKEILLLTGLDNITDEELDRFKFFLSDEFNIATGKLHTANRIQVATLMIQNAGAVSAVMKTIRIFQKLNYMLLAKRLQEEKEKVDKQYKSVTKPKPLSQAE
MSPAASAAIRNDVAKQRAAPKVSPHVKPEQKQMVAQQESIREGFQKRCLPVMVLKAKKPFTFETQEGKQEMFHATVATEKEFFFVKVFNTLLKDKFIPKRIIIIA
RYYRHSGFLEVNSASRVLDAESDQKVNVPLNIIRKAGETPKINTLQTQPLGTIVNGLFVVQKVTEKKKNILFDLSDNTGKMEVLGVRNEDTMKCKEGDKVRLTFF
TLSKNGEKLQLTSGVHSTIKVIKAKKKT

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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 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 6 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 0
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ
(range)
No Evidence.
Case Control Based Association Studies: 1
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)		 ADI-R ADOS Diagnosis Age
(range)		 IQ #Subjects
(% Women)		 Age
(range)
MIXED/OTHERS
Liu X, 2016_2 replication TaqMan 1409
(-)		ASD -
-		 - 184
(-)		 -
-
CNV Studies Top
Linkage Studies Top