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
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Chemical ID Chemical Name Interaction Interaction Action Publication
D003840 Deoxycholic Acid [gluconic acid co-treated with Deoxycholic Acid] results in increased expression of KCNC1 mRNAaffects cotreatment|increases expression 16556975
C030691 gluconic acid [gluconic acid co-treated with Deoxycholic Acid] results in increased expression of KCNC1 mRNAaffects cotreatment|increases expression 16556975
D011188 Potassium KCNC1 protein affects the transport of Potassiumaffects transport 18023363
D011189 Potassium Chloride Potassium Chloride results in decreased expression of KCNC1 mRNAdecreases expression 16412482
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D003110 Colonic Neoplasms Deoxycholic Acid 3.6116213893
MESH:D020514 Hypokalemic Periodic Paralysis Potassium 6.4919822448
MESH:D008114 Liver Neoplasms, Experimental Deoxycholic Acid 4.436150874
No data
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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