AutismKB 2.0

Evidence Details for EIF3H


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Basic Information Top
Gene Symbol:EIF3H ( EIF3S3,MGC102958,eIF3-gamma,eIF3-p40 )
Gene Full Name: eukaryotic translation initiation factor 3, subunit H
Band: 8q23.3-q24.11
Quick LinksEntrez ID:8667; OMIM: 603912; Uniprot ID:EIF3H_HUMAN; ENSEMBL ID: ENSG00000147677; HGNC ID: 3273
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF3H|8667|nucleotide
ATGGCGTCCCGCAAGGAAGGTACCGGCTCTACTGCCACCTCTTCCAGCTCCACCGCCGGCGCAGCAGGGAAAGGCAAAGGCAAAGGCGGCTCGGGAGATTCAGCC
GTGAAGCAAGTGCAGATAGATGGCCTTGTGGTATTAAAGATAATCAAACATTATCAAGAAGAAGGACAAGGAACTGAAGTTGTTCAAGGAGTGCTTTTGGGTCTG
GTTGTAGAAGATCGGCTTGAAATTACCAACTGCTTTCCTTTCCCTCAGCACACAGAGGATGATGCTGACTTTGATGAAGTCCAATATCAGATGGAAATGATGCGG
AGCCTTCGCCATGTAAACATTGATCATCTTCACGTGGGCTGGTATCAGTCCACATACTATGGCTCATTCGTTACCCGGGCACTCCTGGACTCTCAGTTTAGTTAC
CAGCATGCCATTGAAGAATCTGTCGTTCTCATTTATGATCCCATAAAAACTGCCCAAGGATCTCTCTCACTAAAGGCATACAGACTGACTCCTAAACTGATGGAA
GTTTGTAAAGAAAAGGATTTTTCCCCTGAAGCATTGAAAAAAGCAAATATCACCTTTGAGTACATGTTTGAAGAAGTGCCGATTGTAATTAAAAATTCACATCTG
ATCAATGTCCTAATGTGGGAACTTGAAAAGAAGTCAGCTGTTGCAGATAAACATGAATTGCTCAGCCTTGCCAGCAGCAATCATTTGGGGAAGAATCTACAGTTG
CTGATGGACAGAGTGGATGAAATGAGCCAAGATATAGTTAAATACAACACATACATGAGGAATACTAGTAAACAACAGCAGCAGAAACATCAGTATCAGCAGCGT
CGCCAGCAGGAGAATATGCAGCGCCAGAGCCGAGGAGAACCCCCGCTCCCTGAGGAGGACCTGTCCAAACTCTTCAAACCACCACAGCCGCCTGCCAGGATGGAC
TCGCTGCTCATTGCAGGCCAGATAAACACTTACTGCCAGAACATCAAGGAGTTCACTGCCCAAAACTTAGGCAAGCTCTTCATGGCCCAGGCTCTTCAAGAATAC
AACAACTAA
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>EIF3H|8667|protein
MASRKEGTGSTATSSSSTAGAAGKGKGKGGSGDSAVKQVQIDGLVVLKIIKHYQEEGQGTEVVQGVLLGLVVEDRLEITNCFPFPQHTEDDADFDEVQYQMEMMR
SLRHVNIDHLHVGWYQSTYYGSFVTRALLDSQFSYQHAIEESVVLIYDPIKTAQGSLSLKAYRLTPKLMEVCKEKDFSPEALKKANITFEYMFEEVPIVIKNSHL
INVLMWELEKKSAVADKHELLSLASSNHLGKNLQLLMDRVDEMSQDIVKYNTYMRNTSKQQQQKHQYQQRRQQENMQRQSRGEPPLPEEDLSKLFKPPQPPARMD
SLLIAGQINTYCQNIKEFTAQNLGKLFMAQALQEYNN

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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) 1 (1) 0 (0) 0 (0) 0 (0) 10 (2)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top