AutismKB 2.0

Evidence Details for MEPCE


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Basic Information Top
Gene Symbol:MEPCE ( BCDIN3,FLJ20257 )
Gene Full Name: methylphosphate capping enzyme
Band: 7q22.1
Quick LinksEntrez ID:56257; OMIM: 611478; Uniprot ID:MEPCE_HUMAN; ENSEMBL ID: ENSG00000146834; HGNC ID: 20247
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>MEPCE|56257|nucleotide
ATGGTGGGCCTGGATATCGATTCCCGGCTCATCCATTCTGCCCGCCAAAACATCCGACACTACCTTTCCGAGGAGCTGCGTCTCCCACCCCAGACTTTGGAAGGG
GACCCGGGGGCAGAGGGTGAGGAAGGGACCACCACCGTTCGAAAGAGGAGCTGCTTCCCAGCCTCGCTGACTGCCAGCCGGGGTCCCATCGCTGCCCCCCAAGTG
CCCTTGGATGGAGCGGACACATCAGTCTTCCCCAACAATGTTGTCTTCGTCACGGGTAATTATGTGCTGGATCGAGATGACCTGGTGGAGGCCCAAACACCTGAG
TATGATGTGGTGCTCTGCCTCAGCCTCACCAAGTGGGTGCATCTGAACTGGGGAGACGAGGGCCTGAAGCGCATGTTTCGCCGGATCTACCGGCACCTACGCCCT
GGGGGCATCCTGGTCCTAGAGCCCCAACCCTGGTCGTCGTATGGCAAGAGAAAGACTCTTACAGAAACGATCTACAAGAACTACTACCGAATCCAATTGAAGCCA
GAGCAGTTCAGTTCCTACCTGACATCCCCAGACGTGGGCTTCTCCAGCTATGAGCTTGTGGCCACACCCCACAACACCTCTAAAGGCTTCCAGCGTCCTGTGTAC
CTGTTCCACAAGGCCCGATCCCCCAGCCACTAA




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>MEPCE|56257|protein
MVGLDIDSRLIHSARQNIRHYLSEELRLPPQTLEGDPGAEGEEGTTTVRKRSCFPASLTASRGPIAAPQVPLDGADTSVFPNNVVFVTGNYVLDRDDLVEAQTPE
YDVVLCLSLTKWVHLNWGDEGLKRMFRRIYRHLRPGGILVLEPQPWSSYGKRKTLTETIYKNYYRIQLKPEQFSSYLTSPDVGFSSYELVATPHNTSKGFQRPVY
LFHKARSPSH


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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) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top