AutismKB 2.0

Annotation Detail for KCNC1


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Basic Information Top
Gene Symbol:KCNC1 ( FLJ41162,FLJ42249,FLJ43491,KV3.1,KV4,MGC129855,NGK2 )
Gene Full Name: potassium voltage-gated channel, Shaw-related subfamily, member 1
Band: 11p15.1
Quick LinksEntrez ID:3746; OMIM: 176258; Uniprot ID:KCNC1_HUMAN; ENSEMBL ID: ENSG00000129159; HGNC ID: 6233
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
188Phosphotyrosine.
220N-linked (GlcNAc...) (Potential).
229N-linked (GlcNAc...) (Potential).
405Selectivity filter (By similarity).
Location(AA) Modifications Resource
220N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
229N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
21Phosphothreonine(PKC)HMM predict
25Phosphothreonine(PKC)HMM predict
48SulfotyrosineHMM predict
158Phosphoserine(ATM)HMM predict
160Phosphoserine(CDC2)HMM predict
220N-linkedHMM predict
226N-linkedHMM predict
229N-linkedHMM predict
236Phosphotyrosine(EGFR)HMM predict
300O-linkedHMM predict
385MethyllysineHMM predict
403Phosphotyrosine(INSR)HMM predict
403SulfotyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004976
  • Location:chr11 17714089-17750754
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 17708971 17709377 406 4916
H3K27me3 colorectalcancer 17710600 17712637 2037 2471
NRSF JurkatGSE13047 17712689 17713707 1018 892
NRSF mAbJurkat 17710098 17712481 2383 2800
NRSF-mono JurkatQuESTdata 17712391 17713680 1289 1054
NRSF pAbJurkat 17709911 17710965 1054 3652
NRSF pAbJurkat 17711681 17712306 625 2096
NRSF-poly JurkatQuESTdata 17712406 17714613 2207 580
PHF8 293TGSE20725 17712500 17713327 827 1176
RARA MCF7GSE15244 17708971 17709315 344 4947
RARG MCF7GSE15244 17708971 17709457 486 4876
Rb GrowingGSE19898 17709247 17709423 176 4755
Rb shRbQuiescentGSE19898 17713108 17713337 229 867
Sox2 hESGSE18292 17708724 17708935 211 5260
hScc1 BcellGSE12603 17708971 17709528 557 4840
hScc1 BcellGSE12603 17712930 17714638 1708 306
hScc1 CdLSGSE12603 17708971 17709602 631 4803
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 17753638 17753999 361 3064
NRSF pAbJurkat 17757084 17757383 299 6479
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 17738654 17738874 220 0
ER Breast-CancerGSE22609 17748095 17748573 478 0
ER MCF7GSE19013 17738539 17739017 478 0
ER MCF7GSE19013 17747705 17748994 1289 0
FOXA1 MCF7GSE15244 17738498 17739102 604 0
FOXA1 MCF7GSE15244 17748114 17748745 631 0
FoxA1 MCF7MACSdata 17748154 17748390 236 0
NRSF pAbJurkat 17713102 17715345 2243 0
NRSF pAbJurkat 17716965 17717941 976 0
NRSF pAbJurkat 17742427 17742736 309 0
Oct1 HelaGSE14283 17724575 17724605 30 0
Oct1 HelaGSE14283 17724672 17724702 30 0
Oct1 HelaGSE14283 17746703 17746739 36 0
RARG MCF7GSE15244 17738607 17739182 575 0
hScc1 BcellGSE12603 17719544 17719801 257 0
hScc1 BcellGSE12603 17738317 17739146 829 0
hScc1 G2GSE9613 17713749 17714774 1025 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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