AutismKB 2.0

Evidence Details for AIM1L


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Basic Information Top
Gene Symbol:AIM1L ( CRYBG2,DKFZp434L1713,FLJ10040,FLJ38020 )
Gene Full Name: absent in melanoma 1-like
Band: 1p36.11
Quick LinksEntrez ID:55057; OMIM: NA; Uniprot ID:AIM1L_HUMAN; ENSEMBL ID: ENSG00000176092; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AIM1L|55057|nucleotide
ATGGAGGAGGCAGGTGGGCCCATGGCCCGGGCCAAGGCCCGAGTGGTAAGTGCCACATTGACATGGCGGCAGCGGCCCCCCACCCAGGAAGAGATCAAACATGGT
TTTCACAAGGTGTCCCTGGTGTCAGGGGCCCAGATGGAAGCCCCGCAGAAGGAGATGTTTGAGTTCAGCCGTCGAGAGGAAGTGGAAGTCAATGGCTTTGCAACA
CAGGAAGAAGAGACTGTGAATTGCCAGGGCCCTCGGGATACAGCTGGCTCCAAGAACTTCCAGAGCCATGGACCCATCTTTTCCAAGAAGTACATACCACCTCCC
AAGGAGAAAAGGCCTGAGGGGAGGCTGAAGGAGGCTGTGGACCAGAGTGATGGCAGCCGCCAAGCTCCCAGGACTGAGCCCCCATGTGTGGGAGCTATGGCCAGG
ACTGAGCTTTTGGTTCCCCTGCCTGGGCCCCGAGAGCCAAGTCCCCACCCAGGTGTAGGTCTCACCAGTGGTAGCTCCCGGAGCCTCGAGGAATACCGAGTGACA
CGCACTGTGCGGACCACCACAGTGGTGGGAGGTCATGTGGACCGGCGGATGAGCAGCTCTGTGACTGTGAGGCCAGTGTCCTCAGGCGAGGCCCTGCCACGGGGC
CGTCAGGTCTCCCGCATGGTGCCGCCAGTGGTGGTGGGCTCCCCACCAGGCTCGCCCAGCCGCAGCCAGGCCGTGAAAGTGCTAAGTAACCTCGTGCCTGCTGGG
CACAGCCCCCCTGCCAGTCACCTGCCCAGGCCCACGGCTGGCGGGCCAAGGAGCACAGGTCTGGGCAGCACAGTGGGGGCAGCCTTGAGGCAGCTGCCTGAGACC
GGGACAGCAGAGCTTAAAGACAGCTCTGCCCTGGCCTCTACAGGCATCCCAGCCAGTGCTCACCTGCCTAAGAATCAGGATGCCCCTGCAGCCTGTCCGGACAGA
GACCAGGGCAGAGCCCCGGATGCCAGGGCCTGTGAGCTCTGGCAGGTGCTGGGAGCCCCCAGTTCCACTGAGCTCCCTCTCCAGACTTCTCAGGGTCAAGCATCA
GTCCCCTCCTCTCCCAGACTCGAGACCCATGTCCCCTCTCCTGGCCTAACTCACCCTGCAAAGCAGCCTGTGGTGCCCACTCACCCCGGGGCCCGGCTCACTCCC
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>AIM1L|55057|protein
MEEAGGPMARAKARVVSATLTWRQRPPTQEEIKHGFHKVSLVSGAQMEAPQKEMFEFSRREEVEVNGFATQEEETVNCQGPRDTAGSKNFQSHGPIFSKKYIPPP
KEKRPEGRLKEAVDQSDGSRQAPRTEPPCVGAMARTELLVPLPGPREPSPHPGVGLTSGSSRSLEEYRVTRTVRTTTVVGGHVDRRMSSSVTVRPVSSGEALPRG
RQVSRMVPPVVVGSPPGSPSRSQAVKVLSNLVPAGHSPPASHLPRPTAGGPRSTGLGSTVGAALRQLPETGTAELKDSSALASTGIPASAHLPKNQDAPAACPDR
DQGRAPDARACELWQVLGAPSSTELPLQTSQGQASVPSSPRLETHVPSPGLTHPAKQPVVPTHPGARLTPLVLPPKKKDGPVDPPAATVLPMVRSEHVTVPGQPP
APSTTRRKDVPSPGGLSAPSSPRNKFVQNSENVPVLPFTQREVVKGPGAPAASSPTRKEVVQGSSASAASSPTWKEVVKGPGAPAASSPTQKEVVQGSSAPAALF
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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