AutismKB 2.0

Evidence Details for EIF2B5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EIF2B5 ( CACH,CLE,EIF-2B,EIF2Bepsilon,LVWM )
Gene Full Name: eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
Band: 3q27.1
Quick LinksEntrez ID:8893; OMIM: 603945; Uniprot ID:EI2BE_HUMAN; ENSEMBL ID: ENSG00000145191; HGNC ID: 3261
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>EIF2B5|8893|nucleotide
ATGGCGGCCCCTGTAGTGGCGCCGCCTGGTGTGGTGGTTAGTCGGGCTAACAAGCGCAGCGGCGCGGGGCCGGGAGGCAGCGGTGGCGGGGGAGCCAGAGGGGCG
GAGGAGGAACCGCCGCCGCCCCTACAAGCAGTTCTGGTGGCCGATAGCTTCGATCGCCGCTTCTTCCCCATCTCCAAGGACCAGCCTCGGGTCCTCTTGCCCCTG
GCCAATGTGGCATTAATTGACTACACTCTGGAATTCCTGACTGCCACAGGTGTACAGGAAACATTTGTCTTTTGTTGCTGGAAAGCTGCTCAAATCAAAGAACAT
TTACTGAAGTCAAAGTGGTGCCGCCCTACATCTCTCAATGTGGTTCGAATAATTACATCAGAGCTCTATCGATCACTGGGAGATGTCCTCCGTGATGTTGATGCC
AAGGCTTTGGTGCGCTCTGACTTTCTTCTGGTGTATGGGGATGTCATCTCAAACATCAATATCACCAGAGCCCTTGAGGAACACAGGTTGAGACGGAAGCTAGAA
AAAAATGTTTCTGTGATGACGATGATCTTCAAGGAGTCATCCCCCAGCCACCCAACTCGTTGCCACGAAGACAATGTGGTAGTGGCTGTGGATAGTACCACAAAC
AGGGTTCTCCATTTTCAGAAGACCCAGGGTCTCCGGCGTTTTGCATTTCCTCTGAGCCTGTTTCAGGGCAGTAGTGATGGAGTGGAGGTTCGATATGATTTACTG
GATTGTCATATCAGCATCTGTTCTCCTCAGGTGGCACAACTCTTTACAGACAACTTTGACTACCAAACTCGAGATGACTTTGTGCGAGGTCTCTTAGTGAATGAG
GAGATCCTAGGGAACCAGATCCACATGCACGTAACAGCTAAGGAATATGGTGCCCGTGTCTCCAACCTACACATGTACTCAGCTGTCTGTGCTGACGTCATCCGC
CGATGGGTCTACCCTCTCACCCCAGAGGCGAACTTCACTGACAGCACCACCCAGAGCTGCACTCATTCCCGGCACAACATCTACCGAGGGCCTGAGGTCAGCCTG
GGCCATGGCAGCATCCTAGAGGAAAATGTGCTCCTGGGCTCTGGCACTGTCATTGGCAGCAATTGCTTTATCACCAACAGTGTCATTGGCCCCGGCTGCCACATT
Show »

>EIF2B5|8893|protein
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTLEFLTATGVQETFVFCCWKAAQIKEH
LLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNINITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTN
RVLHFQKTQGLRRFAFPLSLFQGSSDGVEVRYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIR
RWVYPLTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGVRVAAGAQIHQSLLCDNAEVK
ERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKMKGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEES
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) 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