AutismKB 2.0

Evidence Details for GFM1


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Basic Information Top
Gene Symbol:GFM1 ( COXPD1,EFG,EFG1,EFGM,EGF1,FLJ12662,FLJ13632,FLJ20773,GFM,hEFG1 )
Gene Full Name: G elongation factor, mitochondrial 1
Band: 3q25.32
Quick LinksEntrez ID:85476; OMIM: 606639; Uniprot ID:EFGM_HUMAN; ENSEMBL ID: ENSG00000168827; HGNC ID: 13780
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GFM1|85476|nucleotide
ATGAGACTCCTGGGAGCTGCAGCCGTCGCGGCTCTGGGGCGCGGAAGGGCCCCCGCCTCCCTAGGCTGGCAGAGGAAGCAGGTTAATTGGAAGGCCTGCCGATGG
TCTTCATCAGGGGTGATTCCTAATGAAAAAATACGAAATATTGGAATCTCAGCTCACATTGATTCTGGGAAAACTACATTAACAGAACGAGTCCTTTACTACACT
GGCAGAATTGCAAAGATGCATGAGGTGAAAGGTAAAGATGGAGTTGGTGCTGTCATGGATTCCATGGAACTAGAGAGACAAAGAGGAATCACTATTCAGTCAGCA
GCCACTTACACCATGTGGAAAGATGTCAATATTAACATTATAGATACTCCTGGGCATGTGGACTTCACAATAGAAGTGGAAAGGGCCCTGAGAGTGTTGGATGGT
GCAGTCCTTGTTCTCTGTGCTGTTGGAGGGGTACAGTGCCAGACCATGACTGTCAATCGTCAGATGAAGCGCTACAACGTTCCGTTTCTAACTTTTATTAACAAA
TTGGACCGAATGGGCTCCAACCCAGCCAGGGCCCTGCAGCAAATGAGGTCTAAACTAAATCATAATGCAGCGTTTATGCAGATACCCATGGGTTTGGAGGGTAAT
TTTAAAGGTATTGTAGATCTTATTGAGGAACGAGCCATCTATTTTGATGGAGACTTTGGTCAGATTGTTCGATATGGTGAGATTCCAGCTGAATTAAGGGCGGCG
GCCACTGACCACCGGCAGGAGCTAATTGAATGTGTTGCCAATTCAGATGAACAGCTTGGTGAGATGTTTCTGGAAGAAAAAATCCCCTCGATTTCTGATTTAAAG
CTAGCAATTCGAAGAGCTACTCTGAAAAGATCATTTACTCCTGTATTTTTGGGAAGCGCCTTGAAGAACAAAGGAGTTCAGCCTCTTTTAGATGCTGTTTTAGAA
TACCTCCCAAATCCATCTGAAGTCCAGAACTATGCTATTCTCAATAAAGAGGATGACTCAAAAGAGAAAACCAAAATCCTAATGAACTCCAGTAGAGACAATTCC
CACCCATTTGTAGGCCTGGCTTTTAAACTGGAGGTAGGTCGATTTGGACAATTAACTTATGTTCGCAGTTATCAGGGAGAGCTAAAGAAGGGTGACACCATCTAT
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>GFM1|85476|protein
MRLLGAAAVAALGRGRAPASLGWQRKQVNWKACRWSSSGVIPNEKIRNIGISAHIDSGKTTLTERVLYYTGRIAKMHEVKGKDGVGAVMDSMELERQRGITIQSA
ATYTMWKDVNINIIDTPGHVDFTIEVERALRVLDGAVLVLCAVGGVQCQTMTVNRQMKRYNVPFLTFINKLDRMGSNPARALQQMRSKLNHNAAFMQIPMGLEGN
FKGIVDLIEERAIYFDGDFGQIVRYGEIPAELRAAATDHRQELIECVANSDEQLGEMFLEEKIPSISDLKLAIRRATLKRSFTPVFLGSALKNKGVQPLLDAVLE
YLPNPSEVQNYAILNKEDDSKEKTKILMNSSRDNSHPFVGLAFKLEVGRFGQLTYVRSYQGELKKGDTIYNTRTRKKVRLQRLARMHADMMEDVEEVYAGDICAL
FGIDCASGDTFTDKANSGLSMESIHVPDPVISIAMKPSNKNDLEKFSKGIGRFTREDPTFKVYFDTENKETVISGMGELHLEIYAQRLEREYGCPCITGKPKVAF
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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) 1 (1) 0 (1) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top