AutismKB 2.0

Evidence Details for AMOT


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Basic Information Top
Gene Symbol:AMOT ( KIAA1071 )
Gene Full Name: angiomotin
Band: Xq23
Quick LinksEntrez ID:154796; OMIM: 300410; Uniprot ID:AMOT_HUMAN; ENSEMBL ID: ENSG00000126016; HGNC ID: 17810
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>AMOT|154796|nucleotide
ATGAGAAATTCTGAAGAACAGCCAAGTGGAGGGACCACGGTATTGCAGCGTTTGCTACAAGAGCAGCTTCGCTATGGCAATCCTAGTGAGAATCGCAGCCTGCTT
GCCATACACCAGCAAGCCACAGGGAATGGCCCTCCTTTCCCCAGTGGCAGTGGGAACCCGGGCCCTCAGAGTGATGTGTTGAGTCCCCAAGACCACCACCAACAG
CTTGTGGCTCATGCTGCTCGACAAGAACCCCAGGGGCAGGAAATCCAGTCAGAAAACCTCATCATGGAGAAGCAGCTGTCTCCTCGAATGCAAAATAATGAAGAA
CTCCCGACCTATGAAGAAGCCAAGGTCCAGTCCCAGTACTTTCGGGGCCAACAGCATGCCAGTGTTGGAGCTGCCTTCTATGTCACTGGAGTCACCAACCAGAAG
ATGAGGACTGAGGGACGCCCATCAGTTCAGCGGCTCAATCCTGGAAAGATGCACCAAGATGAGGGACTCAGAGACCTTAAGCAAGGGCATGTCCGTTCCTTGAGT
GAACGACTAATGCAGATGTCACTGGCCACCAGTGGAGTTAAGGCCCATCCACCTGTTACCAGTGCTCCCCTCTCCCCACCACAACCCAATGACCTCTACAAGAAT
CCCACAAGTTCCAGTGAATTCTACAAGGCCCAAGGGCCACTTCCTAACCAGCATAGCCTGAAGGGCATGGAACACCGAGGCCCCCCACCAGAATATCCCTTCAAG
GGCATGCCACCCCAATCTGTAGTGTGCAAGCCCCAAGAGCCAGGGCACTTCTATAGTGAGCATCGCCTGAACCAGCCAGGGAGAACAGAGGGGCAACTGATGAGG
TATCAGCATCCCCCTGAGTATGGAGCAGCCAGGCCAGCGCAGGACATCTCATTGCCATTGTCAGCCAGGAACTCGCAGCCTCACAGCCCTACTTCTTCTCTGACC
TCTGGGGGGTCCTTGCCCTTGCTACAATCTCCACCATCCACTAGATTGTCTCCTGCCCGACACCCCTTGGTCCCAAACCAGGGAGACCATTCAGCTCACCTGCCT
AGGCCGCAGCAGCATTTCCTTCCTAATCAGGCTCACCAGGGGGATCATTACCGTCTCTCCCAACCTGGCCTGAGTCAGCAGCAGCAGCAACAGCAGCAGCAGCAC
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>AMOT|154796|protein
MRNSEEQPSGGTTVLQRLLQEQLRYGNPSENRSLLAIHQQATGNGPPFPSGSGNPGPQSDVLSPQDHHQQLVAHAARQEPQGQEIQSENLIMEKQLSPRMQNNEE
LPTYEEAKVQSQYFRGQQHASVGAAFYVTGVTNQKMRTEGRPSVQRLNPGKMHQDEGLRDLKQGHVRSLSERLMQMSLATSGVKAHPPVTSAPLSPPQPNDLYKN
PTSSSEFYKAQGPLPNQHSLKGMEHRGPPPEYPFKGMPPQSVVCKPQEPGHFYSEHRLNQPGRTEGQLMRYQHPPEYGAARPAQDISLPLSARNSQPHSPTSSLT
SGGSLPLLQSPPSTRLSPARHPLVPNQGDHSAHLPRPQQHFLPNQAHQGDHYRLSQPGLSQQQQQQQQQHHHHHHHQQQQQQQPQQQPGEAYSAMPRAQPSSASY
QPVPADPFAIVSRAQQMVEILSDENRNLRQELEGCYEKVARLQKVETEIQRVSEAYENLVKSSSKREALEKAMRNKLEGEIRRMHDFNRDLRERLETANKQLAEK
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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 2 (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
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top