AutismKB 2.0

Evidence Details for AIM1


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Basic Information Top
Gene Symbol:AIM1 ( CRYBG1,ST4 )
Gene Full Name: absent in melanoma 1
Band: 6q21
Quick LinksEntrez ID:202; OMIM: 601797; Uniprot ID:AIM1_HUMAN; ENSEMBL ID: ENSG00000112297; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AIM1|202|nucleotide
ATGGAGAAGAGGTCCAGCGGCCGTAGGTCGGGGAGGCGGAGGGGGTCGCAGAAATCCACCGACTCCCCCGGCGCGGACGCCGAGCTCCCTGAGAGCGCTGCCAGG
GACGACGCGGTGTTCGACGACGAGGTGGCGCCAAACGCGGCCAGCGATAACGCCTCGGCGGAAAAGAAAGTGAAATCTCCGCGGGCAGCCCTCGACGGGGGCGTT
GCCTCCGCTGCGAGCCCAGAGTCCAAGCCCAGCCCCGGTACCAAAGGGCAGCTCCGAGGGGAGTCGGACCGGAGCAAACAGCCACCCCCGGCTTCGTCCCCCACG
AAGAGGAAGGGCAGGAGCCGTGCCCTCGAGGCCGTGCCCGCCCCGCCCGCCAGCGGCCCCCGGGCTCCCGCCAAGGAGTCCCCACCCAAGAGGGTGCCCGATCCC
AGCCCAGTCACCAAGGGCACTGCGGCCGAGAGCGGGGAGGAGGCGGCGCGGGCCATCCCCCGCGAGCTCCCGGTCAAGAGCAGCTCGCTGCTGCCGGAGATCAAG
CCCGAGCACAAGAGGGGCCCGCTCCCCAACCACTTCAACGGCCGGGCAGAGGGAGGTCGAAGCAGAGAGCTGGGCAGAGCGGCCGGAGCGCCTGGAGCTTCTGAC
GCCGACGGCTTGAAGCCCAGGAACCATTTCGGCGTGGGCAGGTCGACAGTGACCACTAAAGTGACCCTCCCTGCCAAGCCCAAACATGTGGAACTAAATCTTAAA
ACCCCTAAGAATCTTGACAGTTTGGGAAATGAGCACAATCCATTTAGCCAGCCAGTTCACAAAGGCAACACTGCCACCAAAATCTCCTTATTTGAAAACAAACGG
ACAAACAGTAGCCCAAGACACACTGACATTCGAGGCCAAAGGAATACTCCTGCCTCTAGTAAAACGTTTGTTGGGAGGGCAAAGCTGAATTTAGCCAAAAAAGCC
AAAGAAATGGAGCAACCTGAAAAGAAAGTAATGCCAAACAGTCCCCAGAATGGTGTGCTGGTTAAGGAAACTGCTATAGAAACCAAAGTTACCGTCTCGGAAGAA
GAGATTCTGCCAGCAACCAGAGGAATGAATGGAGACTCTTCTGAGAATCAAGCTCTTGGTCCTCAGCCTAACCAAGATGATAAAGCAGATGTACAAACAGATGCT
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>AIM1|202|protein
MEKRSSGRRSGRRRGSQKSTDSPGADAELPESAARDDAVFDDEVAPNAASDNASAEKKVKSPRAALDGGVASAASPESKPSPGTKGQLRGESDRSKQPPPASSPT
KRKGRSRALEAVPAPPASGPRAPAKESPPKRVPDPSPVTKGTAAESGEEAARAIPRELPVKSSSLLPEIKPEHKRGPLPNHFNGRAEGGRSRELGRAAGAPGASD
ADGLKPRNHFGVGRSTVTTKVTLPAKPKHVELNLKTPKNLDSLGNEHNPFSQPVHKGNTATKISLFENKRTNSSPRHTDIRGQRNTPASSKTFVGRAKLNLAKKA
KEMEQPEKKVMPNSPQNGVLVKETAIETKVTVSEEEILPATRGMNGDSSENQALGPQPNQDDKADVQTDAGCLSEPVASALIPVKDHKLLEKEDSEAADSKSLVL
ENVTDTAQDIPTTVDTKDLPPTAMPKPQHTFSDSQSPAESSPGPSLSLSAPAPGDVPKDTCVQSPISSFPCTDLKVSENHKGCVLPVSRQNNEKMPLLELGGETT
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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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top