AutismKB 2.0

Annotation Detail for KCTD1


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Basic Information Top
Gene Symbol:KCTD1 ( C18orf5 )
Gene Full Name: potassium channel tetramerisation domain containing 1
Band: 18q11.2
Quick LinksEntrez ID:284252; OMIM: 613420; Uniprot ID:KCTD1_HUMAN; ENSEMBL ID: ENSG00000134504; HGNC ID: 18249
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
9Phosphoserine.
12Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
9Phosphoserine(CDC2)HMM predict
9Phosphoserine(CDK)HMM predict
12Phosphoserine(CDC2)HMM predict
12Phosphoserine(IKK)HMM predict
47O-linkedHMM predict
105Phosphotyrosine(INSR)HMM predict
105SulfotyrosineHMM predict
133Phosphothreonine(PKC)HMM predict
228Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_198991
  • Location:chr18 22288871-22474305
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 22483648 22484155 507 9596
CTCF CD4GSE12889 22483763 22483942 179 9547
CTCF CD4SISSRdata 22483763 22483942 179 9547
CTCF HelaGSE12889 22483789 22483957 168 9568
CTCF G2GSE9613 22483756 22484188 432 9667
ER E2-MCF7GSE14664 22487010 22487064 54 12732
PolII HeLaGSE12783 22489876 22492632 2756 16949
TAF HelaGSE8489 22491099 22492529 1430 17509
hScc1 BcellGSE12603 22483756 22484335 579 9740
hScc1 BcellGSE12603 22490591 22491151 560 16566
hScc1 CdLSGSE12603 22483756 22484152 396 9649
hScc1 G2GSE9613 22483756 22484051 295 9598
p130 QuiescentGSE19898 22483729 22483877 148 9498
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 22283128 22283166 38 5725
Myc hESGSE17917 22270524 22270928 404 18146
P300 T30-glioblastomaGSE21026 22270033 22270629 596 18541
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 22314436 22315531 1095 0
CTCF CD4GSE12889 22381732 22381977 245 0
CTCF CD4SISSRdata 22381732 22381977 245 0
CTCF HelaGSE12889 22381794 22381988 194 0
CTCF G2GSE9613 22302830 22302975 145 0
CTCF G2GSE9613 22382948 22383379 431 0
CTCF G2GSE9613 22455326 22455568 242 0
ER E2-MCF7GSE14664 22462323 22462354 31 0
ER E2-MCF7GSE14664 22462483 22462518 35 0
ER MCF7GSE19013 22409100 22410128 1028 0
H3K27me3 colorectalcancer 22385275 22386403 1128 0
KLF4 hESGSE17917 22291682 22291854 172 0
NFkBII GM12878GSE19485 22320864 22322317 1453 0
NRSF-mono JurkatQuESTdata 22427881 22428249 368 0
NRSF-poly JurkatQuESTdata 22427912 22428323 411 0
Oct1 H2O2-HelaGSE14283 22310711 22310739 28 0
Oct1 H2O2-HelaGSE14283 22325833 22325860 27 0
Oct1 H2O2-HelaGSE14283 22439760 22439818 58 0
Oct1 HelaGSE14283 22333805 22333880 75 0
Oct1 HelaGSE14283 22350910 22350945 35 0
Oct1 HelaGSE14283 22367392 22367425 33 0
Oct1 HelaGSE14283 22439760 22439807 47 0
Oct1 HelaGSE14283 22462428 22462498 70 0
P300 T30-glioblastomaGSE21026 22314516 22315673 1157 0
RNAII Tamoxifen-MCF7GSE14664 22462481 22462529 48 0
Rb GrowingGSE19898 22382701 22382944 243 0
Rb SenescentGSE19898 22382658 22382955 297 0
TFAP2C MCF7GSE21234 22321506 22321832 326 0
TFAP2C MCF7GSE21234 22382433 22384040 1607 0
TFAP2C MCF7GSE21234 22384384 22384830 446 0
TFAP2C MCF7GSE21234 22385011 22385557 546 0
hScc1 BcellGSE12603 22299359 22300075 716 0
hScc1 BcellGSE12603 22302830 22303086 256 0
hScc1 BcellGSE12603 22304015 22304255 240 0
hScc1 BcellGSE12603 22381228 22382602 1374 0
hScc1 BcellGSE12603 22383025 22383415 390 0
hScc1 BcellGSE12603 22384456 22385275 819 0
hScc1 BcellGSE12603 22455361 22455859 498 0
hScc1 CdLSGSE12603 22455104 22456225 1121 0
p63 keratinocytesGSE17611 22294308 22295300 992 0
p63 keratinocytesGSE17611 22408767 22410181 1414 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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