AutismKB 2.0

Evidence Details for EIF2AK3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EIF2AK3 ( DKFZp781H1925,PEK,PERK,WRS )
Gene Full Name: eukaryotic translation initiation factor 2-alpha kinase 3
Band: 2p11.2
Quick LinksEntrez ID:9451; OMIM: 604032; Uniprot ID:E2AK3_HUMAN; ENSEMBL ID: ENSG00000172071; HGNC ID: 3255
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF2AK3|9451|nucleotide
ATGGAGCGCGCCATCAGCCCGGGGCTGCTGGTACGGGCGCTGCTGCTGCTGCTGCTGCTGCTGGGGCTCGCGGCAAGGACGGTGGCCGCGGGGCGCGCCCGTGGC
CTCCCAGCGCCGACGGCGGAGGCGGCGTTCGGCCTCGGGGCGGCCGCTGCTCCCACCTCAGCGACGCGAGTACCGGCGGCGGGCGCCGTGGCTGCGGCCGAGGTG
ACTGTGGAGGACGCTGAGGCGCTGCCGGCAGCCGCGGGAGAGCAGGAGCCTCGGGGTCCGGAACCAGACGATGAGACAGAGTTGCGACCGCGCGGCAGGTCATTA
GTAATTATCAGCACTTTAGATGGGAGAATTGCTGCCTTGGATCCTGAAAATCATGGTAAAAAGCAGTGGGATTTGGATGTGGGATCCGGTTCCTTGGTGTCATCC
AGCCTTAGCAAACCAGAGGTATTTGGGAATAAGATGATCATTCCTTCCCTGGATGGAGCCCTCTTCCAGTGGGACCAAGACCGTGAAAGCATGGAAACAGTTCCT
TTCACAGTTGAATCACTTCTTGAATCTTCTTATAAATTTGGAGATGATGTTGTTTTGGTTGGAGGAAAATCTCTGACTACATATGGACTCAGTGCATATAGTGGA
AAGGTGAGGTATATCTGTTCAGCTCTGGGTTGTCGCCAATGGGATAGTGACGAAATGGAACAAGAGGAAGACATCCTGCTTCTACAGCGTACCCAAAAAACTGTT
AGAGCTGTCGGACCTCGCAGTGGCAATGAGAAGTGGAATTTCAGTGTTGGCCACTTTGAACTTCGGTATATTCCAGACATGGAAACGAGAGCCGGATTTATTGAA
AGCACCTTTAAGCCCAATGAGAACACAGAAGAGTCTAAAATTATTTCAGATGTGGAAGAACAGGAAGCTGCCATAATGGACATAGTGATAAAGGTTTCGGTTGCT
GACTGGAAAGTTATGGCATTCAGTAAGAAGGGAGGACATCTGGAATGGGAGTACCAGTTTTGTACTCCAATTGCATCTGCCTGGTTACTTAAGGATGGGAAAGTC
ATTCCCATCAGTCTTTTTGATGATACAAGTTATACATCTAATGATGATGTTTTAGAAGATGAAGAAGACATTGTAGAAGCTGCCAGAGGAGCCACAGAAAACAGT
Show »

>EIF2AK3|9451|protein
MERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVPAAGAVAAAEVTVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSL
VIISTLDGRIAALDPENHGKKQWDLDVGSGSLVSSSLSKPEVFGNKMIIPSLDGALFQWDQDRESMETVPFTVESLLESSYKFGDDVVLVGGKSLTTYGLSAYSG
KVRYICSALGCRQWDSDEMEQEEDILLLQRTQKTVRAVGPRSGNEKWNFSVGHFELRYIPDMETRAGFIESTFKPNENTEESKIISDVEEQEAAIMDIVIKVSVA
DWKVMAFSKKGGHLEWEYQFCTPIASAWLLKDGKVIPISLFDDTSYTSNDDVLEDEEDIVEAARGATENSVYLGMYRGQLYLQSSVRISEKFPSSPKALESVTNE
NAIIPLPTIKWKPLIHSPSRTPVLVGSDEFDKCLSNDKFSHEEYSNGALSILQYPYDNGYYLPYYKRERNKRSTQITVRFLDNPHYNKNIRKKDPVLLLHWWKEI
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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