AutismKB 2.0

Annotation Detail for KLHL12


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Basic Information Top
Gene Symbol:KLHL12 ( C3IP1,DKIR,FLJ27152 )
Gene Full Name: kelch-like 12 (Drosophila)
Band: 1q32.1
Quick LinksEntrez ID:59349; OMIM: NA; Uniprot ID:KLH12_HUMAN; ENSEMBL ID: ENSG00000117153; HGNC ID: 19360
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
31Phosphothreonine.
36Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
29Phosphoserine(IKK)HMM predict
73Phosphotyrosine(INSR)HMM predict
99O-linkedHMM predict
128Phosphoserine(ATM)HMM predict
158Phosphoserine(ATM)HMM predict
214Phosphoserine(CK1)HMM predict
291Phosphoserine(ATM)HMM predict
310Phosphoserine(IKK)HMM predict
394Phosphothreonine(PKC)HMM predict
395Phosphoserine(PKA)HMM predict
455N-linkedHMM predict
476Phosphotyrosine(INSR)HMM predict
499Phosphoserine(IKK)HMM predict
499O-linkedHMM predict
504O-linkedHMM predict
566ArginineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021633
  • Location:chr1 201126852-201162993
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 201162372 201163722 1350 54
USF1 HepG2E 201164069 201164540 471 1311
USF2 HepG2E 201164069 201164467 398 1275
p130 SenescentGSE19898 201162611 201163388 777 6
p130 shRbSenescentGSE19898 201162789 201163385 596 94
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 201162324 201163399 1075 0
Fos K562GSE19551 201162363 201163322 959 0
H3K4me3 colorectalcancer 201161886 201162670 784 0
H3ac HepG2E 201160680 201161116 436 0
H3ac HepG2E 201161886 201162596 710 0
HIF1 HypoHepG2 201162806 201163114 308 0
LIN9 G0GSE7516 201162706 201163114 408 0
P300 T30-glioblastomaGSE21026 201162063 201163543 1480 0
PHF8 293TGSE20725 201162193 201163652 1459 0
RARA MCF7GSE15244 201161886 201162632 746 0
TAF HelaGSE8489 201161886 201162353 467 0
TAF k562GSE8489 201161886 201162496 610 0
TAFII hESGSE17917 201162599 201163198 599 0
USF1 HepG2E 201143678 201143865 187 0
USF1 HepG2E 201160576 201161297 721 0
USF1 HepG2E 201161886 201163114 1228 0
USF2 HepG2E 201161921 201162596 675 0
p130 QuiescentGSE19898 201162622 201163317 695 0
p130 shRbQuiescentGSE19898 201162545 201163377 832 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
645 Unknown MicroArray miR-373 KLHL12 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000117153 n_a n_a n_a n_a n_a
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