AutismKB 2.0

Evidence Details for MTOR


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Basic Information Top
Gene Symbol:MTOR ( FLJ44809,FRAP,FRAP1,FRAP2,RAFT1,RAPT1 )
Gene Full Name: mechanistic target of rapamycin (serine/threonine kinase)
Band: 1p36.22
Quick LinksEntrez ID:2475; OMIM: 601231; Uniprot ID:MTOR_HUMAN; ENSEMBL ID: ENSG00000198793; HGNC ID: 3942
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTOR|2475|nucleotide
ATGCTTGGAACCGGACCTGCCGCCGCCACCACCGCTGCCACCACATCTAGCAATGTGAGCGTCCTGCAGCAGTTTGCCAGTGGCCTAAAGAGCCGGAATGAGGAA
ACCAGGGCCAAAGCCGCCAAGGAGCTCCAGCACTATGTCACCATGGAACTCCGAGAGATGAGTCAAGAGGAGTCTACTCGCTTCTATGACCAACTGAACCATCAC
ATTTTTGAATTGGTTTCCAGCTCAGATGCCAATGAGAGGAAAGGTGGCATCTTGGCCATAGCTAGCCTCATAGGAGTGGAAGGTGGGAATGCCACCCGAATTGGC
AGATTTGCCAACTATCTTCGGAACCTCCTCCCCTCCAATGACCCAGTTGTCATGGAAATGGCATCCAAGGCCATTGGCCGTCTTGCCATGGCAGGGGACACTTTT
ACCGCTGAGTACGTGGAATTTGAGGTGAAGCGAGCCCTGGAATGGCTGGGTGCTGACCGCAATGAGGGCCGGAGACATGCAGCTGTCCTGGTTCTCCGTGAGCTG
GCCATCAGCGTCCCTACCTTCTTCTTCCAGCAAGTGCAACCCTTCTTTGACAACATTTTTGTGGCCGTGTGGGACCCCAAACAGGCCATCCGTGAGGGAGCTGTA
GCCGCCCTTCGTGCCTGTCTGATTCTCACAACCCAGCGTGAGCCGAAGGAGATGCAGAAGCCTCAGTGGTACAGGCACACATTTGAAGAAGCAGAGAAGGGATTT
GATGAGACCTTGGCCAAAGAGAAGGGCATGAATCGGGATGATCGGATCCATGGAGCCTTGTTGATCCTTAACGAGCTGGTCCGAATCAGCAGCATGGAGGGAGAG
CGTCTGAGAGAAGAAATGGAAGAAATCACACAGCAGCAGCTGGTACACGACAAGTACTGCAAAGATCTCATGGGCTTCGGAACAAAACCTCGTCACATTACCCCC
TTCACCAGTTTCCAGGCTGTACAGCCCCAGCAGTCAAATGCCTTGGTGGGGCTGCTGGGGTACAGCTCTCACCAAGGCCTCATGGGATTTGGGACCTCCCCCAGT
CCAGCTAAGTCCACCCTGGTGGAGAGCCGGTGTTGCAGAGACTTGATGGAGGAGAAATTTGATCAGGTGTGCCAGTGGGTGCTGAAATGCAGGAATAGCAAGAAC
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>MTOR|2475|protein
MLGTGPAAATTAATTSSNVSVLQQFASGLKSRNEETRAKAAKELQHYVTMELREMSQEESTRFYDQLNHHIFELVSSSDANERKGGILAIASLIGVEGGNATRIG
RFANYLRNLLPSNDPVVMEMASKAIGRLAMAGDTFTAEYVEFEVKRALEWLGADRNEGRRHAAVLVLRELAISVPTFFFQQVQPFFDNIFVAVWDPKQAIREGAV
AALRACLILTTQREPKEMQKPQWYRHTFEEAEKGFDETLAKEKGMNRDDRIHGALLILNELVRISSMEGERLREEMEEITQQQLVHDKYCKDLMGFGTKPRHITP
FTSFQAVQPQQSNALVGLLGYSSHQGLMGFGTSPSPAKSTLVESRCCRDLMEEKFDQVCQWVLKCRNSKNSLIQMTILNLLPRLAAFRPSAFTDTQYLQDTMNHV
LSCVKKEKERTAAFQALGLLSVAVRSEFKVYLPRVLDIIRAALPPKDFAHKRQKAMQVDATVFTCISMLARAMGPGIQQDIKELLEPMLAVGLSPALTAVLYDLS
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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 (0) 0 (1) 0 (1) 0 (0) 0 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top