AutismKB 2.0

Annotation Detail for KLRAQ1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KLRAQ1 ( CCDC128,FLJ16566,MGC111781 )
Gene Full Name: KLRAQ motif containing 1
Band: 2p16.3
Quick LinksEntrez ID:129285; OMIM: NA; Uniprot ID:KLRAQ_HUMAN; ENSEMBL ID: ENSG00000162869; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
573Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152994
  • Location:chr2 48521411-48596025
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 48501379 48501781 402 19832
CTCF CD4SISSRdata 48501379 48501781 402 19832
CTCF HelaGSE12889 48501468 48501713 245 19821
CTCF G2GSE9613 48509123 48509442 319 12129
CTCF G2GSE9613 48520923 48521696 773 102
ETS1 JurkatGSE17954 48520770 48521472 702 291
Gata2 K562GSE18868 48501153 48501882 729 19894
Myc K562GSE19551 48520820 48521917 1097 43
P300 T0-glioblastomaGSE21026 48520644 48521778 1134 201
P300 T30-glioblastomaGSE21026 48520686 48522115 1429 11
PHF8 Hs68minusFBSGSE20725 48520740 48521796 1056 144
hScc1 BcellGSE12603 48501260 48501887 627 19838
hScc1 CdLSGSE12603 48501126 48501887 761 19905
hScc1 G2GSE9613 48509123 48509442 319 12129
p130 shRbQuiescentGSE19898 48520736 48521674 938 207
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 48574838 48575282 444 0
CTCF G2GSE9613 48551751 48551879 128 0
Fos K562GSE19551 48585314 48585675 361 0
Gata2 K562GSE18868 48532678 48533148 470 0
H3K4me3 colorectalcancer 48522384 48522653 269 0
Nanog hESGSE18292 48551552 48551934 382 0
PHF8 293TGSE20725 48520990 48521853 863 0
PHF8 HeLaGSE20725 48520799 48522062 1263 0
RUNX JurkatGSE17954 48529182 48529262 80 0
Sox2 hESGSE18292 48551689 48552055 366 0
TAF k562GSE8489 48523988 48524516 528 0
TAFII hESGSE17917 48551550 48551862 312 0
TFAP2C MCF7GSE21234 48529333 48529654 321 0
hScc1 BcellGSE12603 48521185 48521912 727 0
p63 keratinocytesGSE17611 48563272 48564138 866 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
14267 mRNA LOC129285 chr2 48579558 48654173 449 EST chr2 48643808 48644257 Non-exonic Bidirectional (NOB) 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