AutismKB 2.0

Evidence Details for GFM2


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Basic Information Top
Gene Symbol:GFM2 ( EF-G2mt,EFG2,MRRF2,MST027,RRF2,RRF2mt,hEFG2,mEF-G 2 )
Gene Full Name: G elongation factor, mitochondrial 2
Band: 5q13.3
Quick LinksEntrez ID:84340; OMIM: 606544; Uniprot ID:RRF2M_HUMAN; ENSEMBL ID: ENSG00000164347; HGNC ID: 29682
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GFM2|84340|nucleotide
ATGTTGACCAACTTGAGGATATTTGCAATGAGTCATCAGACAATACCCAGTGTGTATATTAATAATATATGCTGCTATAAAATAAGAGCAAGTTTAAAAAGATTA
AAGCCACATGTGCCGCTTGGAAGAAATTGCAGTTCTCTACCAGGCTTAATAGGAAATGATATCAAATCCCTTCATTCCATCATCAATCCTCCCATAGCTAAAATC
CGTAATATTGGAATTATGGCTCATATTGATGCAGGCAAAACTACCACCACAGAAAGAATATTGTACTATTCCGGATATACAAGATCACTGGGAGATGTTGATGAT
GGAGACACAGTGACAGATTTCATGGCCCAAGAGCGAGAAAGAGGCATTACTATTCAATCAGCTGCTGTTACATTTGATTGGAAAGGTTATAGAGTCAATCTAATT
GATACACCAGGTCATGTGGACTTTACCTTGGAGGTTGAGCGGTGCCTAAGAGTGTTGGATGGTGCAGTGGCTGTATTTGATGCCTCTGCTGGTGTAGAGGCCCAG
ACTCTCACAGTATGGAGGCAAGCTGATAAACACAATATACCTCGAATCTGTTTTTTAAACAAGATGGACAAAACTGGAGCAAGCTTTAAGTATGCAGTTGAAAGC
ATCAGAGAGAAGTTAAAGGCAAAGCCTTTGCTTTTACAGTTACCAATTGGTGAAGCCAAAACTTTCAAAGGAGTGGTGGATGTAGTAATGAAAGAAAAACTTCTT
TGGAATTGCAATTCAAATGATGGAAAAGACTTTGAGAGAAAGCCCCTCTTGGAAATGAATGATCCTGAATTGCTGAAGGAAACAACTGAAGCAAGGAATGCCTTA
ATTGAACAAGTTGCAGATTTGGATGATGAATTTGCTGACTTGGTTTTAGAAGAATTTAGTGAGAATTTTGATTTGTTACCAGCTGAAAAGCTACAGACTGCAATA
CATAGAGTGACACTAGCTCAGACAGCAGTGCCTGTGCTTTGTGGAAGTGCCCTGAAAAACAAAGGGATACAGCCCTTGTTAGATGCTGTTACTATGTACTTACCT
TCACCTGAAGAGCGTAACTATGAATTTCTGCAGTGGTATAAGGATGACTTATGTGCATTGGCATTTAAAGTTCTCCATGACAAGCAGCGAGGACCACTGGTTTTT
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>GFM2|84340|protein
MLTNLRIFAMSHQTIPSVYINNICCYKIRASLKRLKPHVPLGRNCSSLPGLIGNDIKSLHSIINPPIAKIRNIGIMAHIDAGKTTTTERILYYSGYTRSLGDVDD
GDTVTDFMAQERERGITIQSAAVTFDWKGYRVNLIDTPGHVDFTLEVERCLRVLDGAVAVFDASAGVEAQTLTVWRQADKHNIPRICFLNKMDKTGASFKYAVES
IREKLKAKPLLLQLPIGEAKTFKGVVDVVMKEKLLWNCNSNDGKDFERKPLLEMNDPELLKETTEARNALIEQVADLDDEFADLVLEEFSENFDLLPAEKLQTAI
HRVTLAQTAVPVLCGSALKNKGIQPLLDAVTMYLPSPEERNYEFLQWYKDDLCALAFKVLHDKQRGPLVFMRIYSGTIKPQLAIHNINGNCTERISRLLLPFADQ
HVEIPSLTAGNIALTVGLKHTATGDTIVSSKSSALAAARRAEREGEKKHRQNNEAERLLLAGVEIPEPVFFCTIEPPSLSKQPDLEHALKCLQREDPSLKVRLDP
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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 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top