AutismKB 2.0

Evidence Details for MTHFSD


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Basic Information Top
Gene Symbol:MTHFSD ( FLJ12998,FLJ13893,MGC138262,MGC138264,MGC177233 )
Gene Full Name: methenyltetrahydrofolate synthetase domain containing
Band: 16q24.1
Quick LinksEntrez ID:64779; OMIM: NA; Uniprot ID:MTHSD_HUMAN; ENSEMBL ID: ENSG00000103248; HGNC ID: 25778
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MTHFSD|64779|nucleotide
ATGGAGCCGAGGGCAGTAGGTGTCTCCAAACAGGACATACGTGAACAAATTTGGGGCTACATGGAATCACAAAATTTAGCTGACTTTCCCCGACCTGTTCATCAC
AGGATACCCAACTTTAAGGGGTCTTATCTGGCTTGCCAAAACATCAAAGACCTAGACGTTTTTGCCAGAACACAGGAAGTTAAAGTGGACCCTGATAAACCACTG
GAAGGCGTTCGGCTGCTGGTGCTGCAGAGCAAAAAAACATTGTTGGTTCCAACACCACGACTGAGAACGGGATTGTTTAATAAGATCACACCACCCCCTGGGGCA
ACTAAAGACATCTTGAGAAAATGTGCCACCTCTCAGGGTGTGAGGAACTACAGTGTCCCCATAGGCTTGGACTCCAGAGTCCTCGTGGATTTAGTTGTGGTGGGA
TCCGTCGCCGTTTCTGAAAAAGGCTGGAGAATCGGGAAGGGAGAAGGCTACGCCGATCTGGAATATGCCATGATGGTATCCATGGGCGCCGTCAGCAAGGAGACG
CCGGTGGTCACCATCGTCCACGACTGCCAGGTCGTGGACATCCCTGAAGAGCTTGTTGAGGAGCACGACATCACTGTGGACTACATCCTCACTCCAACCAGAGTC
ATCGCCACAGGCTGCAAGCGCCCAAAGCCAATGGGAATCACCTGGTTCAAGATCAGCCTGGAGATGATGGAGAAAATCCCCATACTGAGGAGCCTCCGCGCCCGA
GAGCAGCAGGCTGGGAAGGATGTCACCCTCCAGGGTGAGCACCAGCACCTTCCGGAACCAGGCTGCCAGCAGACAGTGCCCCTGAGTGTTGGCAGGAGGCCCCCG
GACACACCCGGACCAGAAACCAATTCCATGGAGGCAGCCCCTGGCTCCCCACCAGGGGAGGGTGCCCCGCTTGCAGCCGATGTTTACGTTGGGAACCTCCCCGGG
GACGCCCGTGTGAGTGACCTGAAGAGAGCCCTGCGGGAACTCGGCTCCGTGCCCCTGCGGCTCACCTGGCAGGGCCCGCGGCGCAGAGCCTTCCTCCATTACCCG
GACTCTGCCGCAGCCCAGCAGGCCGTCTCCTGCTTGCAGGGCCTGCGCCTGGGCACCGACACCCTGAGGGTGGCGCTGGCCAGGCAGCAGAGGGACAAGTGA
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>MTHFSD|64779|protein
MEPRAVGVSKQDIREQIWGYMESQNLADFPRPVHHRIPNFKGSYLACQNIKDLDVFARTQEVKVDPDKPLEGVRLLVLQSKKTLLVPTPRLRTGLFNKITPPPGA
TKDILRKCATSQGVRNYSVPIGLDSRVLVDLVVVGSVAVSEKGWRIGKGEGYADLEYAMMVSMGAVSKETPVVTIVHDCQVVDIPEELVEEHDITVDYILTPTRV
IATGCKRPKPMGITWFKISLEMMEKIPILRSLRAREQQAGKDVTLQGEHQHLPEPGCQQTVPLSVGRRPPDTPGPETNSMEAAPGSPPGEGAPLAADVYVGNLPG
DARVSDLKRALRELGSVPLRLTWQGPRRRAFLHYPDSAAAQQAVSCLQGLRLGTDTLRVALARQQRDK

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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 (0) 0 (0) 0 (0) 0 (0) 0 (1)
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
Christian, 2008 USA aCGHASD 397 35 362 - 397 372 769
Linkage Studies Top