AutismKB 2.0

Annotation Detail for KLHL8


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Basic Information Top
Gene Symbol:KLHL8 ( FLJ46304,KIAA1378 )
Gene Full Name: kelch-like 8 (Drosophila)
Band: 4q22.1
Quick LinksEntrez ID:57563; OMIM: 611967; Uniprot ID:KLHL8_HUMAN; ENSEMBL ID: ENSG00000145332; HGNC ID: 18644
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
7Phosphoserine(CK1)HMM predict
29N-linkedHMM predict
32Phosphoserine(CK1)HMM predict
34Phosphoserine(ATM)HMM predict
106Phosphothreonine(PKC)HMM predict
207Phosphoserine(IKK)HMM predict
209Phosphoserine(CDK)HMM predict
218Phosphoserine(CK1)HMM predict
231Phosphotyrosine(EGFR)HMM predict
311Phosphothreonine(CDC2)HMM predict
441Phosphoserine(IKK)HMM predict
448O-linkedHMM predict
476Phosphoserine(CK1)HMM predict
519Phosphoserine(IKK)HMM predict
523Phosphoserine(CK1)HMM predict
541Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020803
  • Location:chr4 88301237-88360697
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 88376010 88376305 295 15460
CTCF CD4SISSRdata 88376010 88376305 295 15460
CTCF G2GSE9613 88375733 88376337 604 15338
ER Fulvestrant-MCF7GSE14664 88375736 88375800 64 15071
ER Fulvestrant-MCF7GSE14664 88375822 88375864 42 15146
Myc K562GSE19551 88375925 88376245 320 15388
Rb GrowingGSE19898 88360618 88360823 205 23
TAF HelaGSE8489 88361059 88361266 207 465
TAF HelaGSE8489 88361593 88361979 386 1089
hScc1 BcellGSE12603 88364486 88364702 216 3897
hScc1 BcellGSE12603 88375924 88376337 413 15433
hScc1 CdLSGSE12603 88375702 88376337 635 15322
hScc1 G2GSE9613 88375733 88376337 604 15338
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 88347680 88348383 703 0
CTCF G2GSE9613 88359508 88361059 1551 0
H3K4me3 colorectalcancer 88359472 88359975 503 0
H3ac HepG2E 88359436 88359939 503 0
Oct1 H2O2-HelaGSE14283 88303857 88303902 45 0
Oct1 HelaGSE14283 88303863 88303902 39 0
Oct1 HelaGSE14283 88354655 88354719 64 0
PHF8 293TGSE20725 88360090 88361177 1087 0
PHF8 HeLaGSE20725 88359849 88361481 1632 0
PHF8 Hs68minusFBSGSE20725 88360099 88361071 972 0
Pol2 GM12878GSE19551 88359944 88361069 1125 0
Rb QuiescentGSE19898 88360410 88360688 278 0
Rb SenescentGSE19898 88360165 88360759 594 0
hScc1 BcellGSE12603 88359823 88360846 1023 0
p130 QuiescentGSE19898 88360476 88360663 187 0
p130 SenescentGSE19898 88360240 88360668 428 0
p130 shRbQuiescentGSE19898 88360380 88361001 621 0
Validated miRNA targets Top
Cis-Nats regulation Top

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