AutismKB 2.0

Annotation Detail for KCTD12


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Basic Information Top
Gene Symbol:KCTD12 ( C13orf2,FLJ33073,KIAA1778,PFET1,PFETIN )
Gene Full Name: potassium channel tetramerisation domain containing 12
Band: 13q22.3
Quick LinksEntrez ID:115207; OMIM: 610521; Uniprot ID:KCD12_HUMAN; ENSEMBL ID: ENSG00000178695; HGNC ID: 14678
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
119Phosphotyrosine (By similarity).
171Phosphoserine.
176Phosphoserine.
185Phosphoserine.
187Phosphoserine.
196Phosphothreonine.
198Phosphoserine.
200Phosphoserine.
204Phosphoserine.
Location(AA) Modifications Resource
185Phosphoserine (By similarity).Swiss-Prot 53.0
187Phosphoserine (By similarity).Swiss-Prot 53.0
196Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
24O-linkedHMM predict
47Phosphothreonine(PKC)HMM predict
51Phosphothreonine(PKA)HMM predict
142O-linkedHMM predict
171O-linkedHMM predict
176O-linkedHMM predict
183O-linkedHMM predict
185Phosphoserine(CDK)HMM predict
196Phosphothreonine(MAPK)HMM predict
198Phosphoserine(ATM)HMM predict
209Phosphotyrosine(INSR)HMM predict
254N-linkedHMM predict
287Phosphoserine(ATM)HMM predict
299O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_138444
  • Location:chr13 76352312-76358525
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 76375755 76376092 337 17398
CTCF CD4SISSRdata 76375755 76376092 337 17398
CTCF JurkatGSE12889 76375799 76375968 169 17358
CTCF G2GSE9613 76360731 76360907 176 2294
CTCF G2GSE9613 76374395 76374658 263 16001
CTCF G2GSE9613 76375636 76376037 401 17311
Myc K562GSE19551 76375734 76375962 228 17323
hScc1 BcellGSE12603 76375494 76376108 614 17276
hScc1 CdLSGSE12603 76375387 76376285 898 17311
hScc1 G2GSE9613 76374280 76374840 560 16035
hScc1 G2GSE9613 76375494 76376211 717 17327
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 CdLSGSE12603 76351587 76351798 211 620
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 76356377 76358621 2244 0
hScc1 BcellGSE12603 76357267 76358687 1420 0
hScc1 CdLSGSE12603 76356194 76358621 2427 0
hScc1 G2GSE9613 76356448 76358687 2239 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