AutismKB 2.0

Annotation Detail for EIF2B5


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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
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
525Phosphoserine.
527Phosphoserine.
529Phosphoserine.
532Phosphoserine.
535Phosphoserine.
540Phosphoserine.
544Phosphoserine.
717Phosphoserine.
718Phosphoserine.
Location(AA) Modifications Resource
466PhosphoserinePhospho.ELM 6.0
469PhosphoserinePhospho.ELM 6.0
525Phosphoserine.Swiss-Prot 53.0
527Phosphoserine.Swiss-Prot 53.0
529Phosphoserine.Swiss-Prot 53.0
532Phosphoserine.Swiss-Prot 53.0
535Phosphoserine.Swiss-Prot 53.0
535Phosphoserine (GSK-3
540Phosphoserine.Swiss-Prot 53.0
544PhosphoserinePhospho.ELM 6.0
544Phosphoserine.Swiss-Prot 53.0
717PhosphoserinePhospho.ELM 6.0
718PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
27O-linkedHMM predict
95S-palmitoylHMM predict
96S-palmitoylHMM predict
160N-linkedHMM predict
189PhosphoserineHMM predict
266SulfotyrosineHMM predict
301Phosphoserine(PKG)HMM predict
322Phosphothreonine(MAPK)HMM predict
326N-linkedHMM predict
330O-linkedHMM predict
334Phosphoserine(IKK)HMM predict
354Phosphoserine(CK2)HMM predict
424Phosphothreonine(PKC)HMM predict
433O-linkedHMM predict
440N-linkedHMM predict
469Phosphoserine(IKK)HMM predict
525Phosphoserine(CK1)HMM predict
527Phosphoserine(IKK)HMM predict
527Phosphoserine(CK1)HMM predict
529Phosphoserine(CK2)HMM predict
535PhosphoserineHMM predict
570Phosphoserine(CK2)HMM predict
610Phosphoserine(ATM)HMM predict
717Phosphoserine(CK2)HMM predict
717Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003907
  • Location:chr3 185335503-185345791
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 185329430 185329872 442 5853
CTCF G2GSE9613 185334572 185336303 1731 66
FOXA1 MCF7GSE15244 185334572 185336416 1844 10
H3K4me3 colorectalcancer 185334867 185335402 535 369
H3ac HepG2E 185334620 185335760 1140 314
P300 T0-glioblastomaGSE21026 185334373 185336197 1824 219
P300 T30-glioblastomaGSE21026 185334156 185336757 2601 47
RARA MCF7GSE15244 185334298 185335672 1374 519
RARG MCF7GSE15244 185334298 185335760 1462 475
hScc1 BcellGSE12603 185334620 185336193 1573 97
p130 shRbSenescentGSE19898 185334468 185334873 405 833
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 185345697 185345990 293 52
CTCF CD4SISSRdata 185345697 185345990 293 52
CTCF G2GSE9613 185345494 185346332 838 122
CTCF G2GSE9613 185350155 185350967 812 4770
FOXA1 MCF7GSE15244 185350155 185350767 612 4670
H3ac HepG2E 185350155 185350593 438 4583
RARA MCF7GSE15244 185350155 185350767 612 4670
hScc1 BcellGSE12603 185350224 185350630 406 4636
hScc1 G2GSE9613 185345631 185346296 665 172
p130 QuiescentGSE19898 185345772 185345969 197 79
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 185338135 185338640 505 0
CTCF G2GSE9613 185340906 185341097 191 0
ETS1 JurkatGSE17954 185335268 185336349 1081 0
FOXA1 MCF7GSE15244 185344555 185345494 939 0
H3K4me3 colorectalcancer 185335986 185337248 1262 0
H3ac HepG2E 185336014 185338243 2229 0
PHF8 293TGSE20725 185335140 185336273 1133 0
RARA MCF7GSE15244 185336046 185336529 483 0
RARA MCF7GSE15244 185344592 185346296 1704 0
RARG MCF7GSE15244 185344381 185346332 1951 0
TAF k562GSE8489 185334765 185337055 2290 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
19090 HTC EIF2B5 chr3 185335527 185345800 24 EST chr3 185334508 185335671Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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