AutismKB 2.0

Evidence Details for MTR


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Basic Information Top
Gene Symbol:MTR ( FLJ33168,FLJ43216,FLJ45386,MS,cblG )
Gene Full Name: 5-methyltetrahydrofolate-homocysteine methyltransferase
Band: 1q43
Quick LinksEntrez ID:4548; OMIM: 156570; Uniprot ID:METH_HUMAN; ENSEMBL ID: ENSG00000116984; HGNC ID: 7468
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTR|4548|nucleotide
ATGTCACCCGCGCTCCAAGACCTGTCGCAACCCGAAGGTCTGAAGAAAACCCTGCGGGATGAGATCAATGCCATTCTGCAGAAGAGGATTATGGTGCTGGATGGA
GGGATGGGGACCATGATCCAGCGGGAGAAGCTAAACGAAGAACACTTCCGAGGTCAGGAATTTAAAGATCATGCCAGGCCGCTGAAAGGCAACAATGACATTTTA
AGTATAACTCAGCCTGATGTCATTTACCAAATCCATAAGGAATACTTGCTGGCTGGGGCAGATATCATTGAAACAAATACTTTTAGCAGCACTAGTATTGCCCAA
GCTGACTATGGCCTTGAACACTTGGCCTACCGGATGAACATGTGCTCTGCAGGAGTGGCCAGAAAAGCTGCCGAGGAGGTAACTCTCCAGACAGGAATTAAGAGG
TTTGTGGCAGGGGCTCTGGGTCCGACTAATAAGACACTCTCTGTGTCCCCATCTGTGGAAAGGCCGGATTATAGGAACATCACATTTGATGAGCTTGTTGAAGCA
TACCAAGAGCAGGCCAAAGGACTTCTGGATGGCGGGGTTGATATCTTACTCATTGAAACTATTTTTGATACTGCCAATGCCAAGGCAGCCTTGTTTGCACTCCAA
AATCTTTTTGAGGAGAAATATGCTCCCCGGCCTATCTTTATTTCAGGGACGATCGTTGATAAAAGTGGGCGGACTCTTTCCGGACAGACAGGAGAGGGATTTGTC
ATCAGCGTGTCTCATGGAGAACCACTCTGCATTGGATTAAATTGTGCTTTGGGTGCAGCTGAAATGAGACCTTTTATTGAAATAATTGGAAAATGTACAACAGCC
TATGTCCTCTGTTATCCCAATGCAGGTCTTCCCAACACCTTTGGTGACTATGATGAAACGCCTTCTATGATGGCCAAGCACCTAAAGGATTTTGCTATGGATGGC
TTGGTCAATATAGTTGGAGGATGCTGTGGGTCAACACCAGATCATATCAGGGAAATTGCTGAAGCTGTGAAAAATTGTAAGCCTAGAGTTCCACCTGCCACTGCT
TTTGAAGGACATATGTTACTGTCTGGTCTAGAGCCCTTCAGGATTGGACCGTACACCAACTTTGTTAACATTGGAGAGCGCTGTAATGTTGCAGGATCAAGGAAG
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>MTR|4548|protein
MSPALQDLSQPEGLKKTLRDEINAILQKRIMVLDGGMGTMIQREKLNEEHFRGQEFKDHARPLKGNNDILSITQPDVIYQIHKEYLLAGADIIETNTFSSTSIAQ
ADYGLEHLAYRMNMCSAGVARKAAEEVTLQTGIKRFVAGALGPTNKTLSVSPSVERPDYRNITFDELVEAYQEQAKGLLDGGVDILLIETIFDTANAKAALFALQ
NLFEEKYAPRPIFISGTIVDKSGRTLSGQTGEGFVISVSHGEPLCIGLNCALGAAEMRPFIEIIGKCTTAYVLCYPNAGLPNTFGDYDETPSMMAKHLKDFAMDG
LVNIVGGCCGSTPDHIREIAEAVKNCKPRVPPATAFEGHMLLSGLEPFRIGPYTNFVNIGERCNVAGSRKFAKLIMAGNYEEALCVAKVQVEMGAQVLDVNMDDG
MLDGPSAMTRFCNLIASEPDIAKVPLCIDSSNFAVIEAGLKCCQGKCIVNSISLKEGEDDFLEKARKIKKYGAAMVVMAFDEEGQATETDTKIRVCTRAYHLLVK
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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) 1 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top