AutismKB 2.0

Annotation Detail for KLHDC7A


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Basic Information Top
Gene Symbol:KLHDC7A ( FLJ38753,RP11-422P22.2 )
Gene Full Name: kelch domain containing 7A
Band: 1p36.13
Quick LinksEntrez ID:127707; OMIM: NA; Uniprot ID:KLD7A_HUMAN; ENSEMBL ID: ENSG00000179023; HGNC ID: 26791
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
257N-linked (GlcNAc...) (Potential).
292Phosphotyrosine.
293Phosphotyrosine.
Location(AA) Modifications Resource
243N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
71PhosphoserineHMM predict
71Phosphoserine(PKG)HMM predict
72Phosphoserine(PKB)HMM predict
72Phosphoserine(PKG)HMM predict
72Phosphoserine(PKA)HMM predict
108Phosphoserine(PKC)HMM predict
108Phosphoserine(PKA)HMM predict
117Phosphoserine(CK2)HMM predict
125S-palmitoylHMM predict
126S-palmitoylHMM predict
149PhosphoserineHMM predict
154Phosphoserine(CDC2)HMM predict
206N-linkedHMM predict
243N-linkedHMM predict
304Phosphoserine(CDC2)HMM predict
304O-linkedHMM predict
311O-linkedHMM predict
334Phosphoserine(PKG)HMM predict
334Phosphoserine(CDC2)HMM predict
351Phosphoserine(PKG)HMM predict
441Phosphotyrosine(INSR)HMM predict
441Phosphotyrosine(SRC)HMM predict
458Phosphotyrosine(INSR)HMM predict
719Phosphothreonine(PKA)HMM predict
719Phosphothreonine(PKC)HMM predict
761O-linkedHMM predict
767Phosphoserine(CDC2)HMM predict
781Phosphoserine(PKB)HMM predict
781PhosphoserineHMM predict
781Phosphoserine(PKG)HMM predict
782Phosphoserine(CDC2)HMM predict
789Phosphoserine(IKK)HMM predict
794O-linkedHMM predict
799Phosphoserine(PKG)HMM predict
811Phosphothreonine(PKC)HMM predict
823O-linkedHMM predict
823O-linkedHMM predict
824O-linkedHMM predict
837O-linkedHMM predict
845Phosphoserine(IKK)HMM predict
845O-linkedHMM predict
845O-linkedHMM predict
848O-linkedHMM predict
856Phosphothreonine(PKC)HMM predict
870O-linkedHMM predict
894Phosphoserine(IKK)HMM predict
894Phosphoserine(PKB)HMM predict
920Phosphothreonine(CDC2)HMM predict
920Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152375
  • Location:chr1 18680010-18685064
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 18660762 18660954 192 19153
CTCF G2GSE9613 18679493 18679718 225 405
FoxA1 MCF7MACSdata 18663390 18663708 318 16462
RARA MCF7GSE15244 18663806 18664135 329 16040
hScc1 BcellGSE12603 18660626 18660993 367 19201
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 18686233 18686433 200 1269
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 18679985 18680140 155 0
hScc1 BcellGSE12603 18680943 18681405 462 0
hScc1 BcellGSE12603 18681745 18682475 730 0
hScc1 BcellGSE12603 18683485 18683929 444 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


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