AutismKB 2.0

Annotation Detail for KCNQ1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNQ1 ( ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 1
Band: 11p15.5-p15.4
Quick LinksEntrez ID:3784; OMIM: 607542; Uniprot ID:KCNQ1_HUMAN; ENSEMBL ID: ENSG00000053918; HGNC ID: 6294
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
289N-linked (GlcNAc...) (Potential).
317Selectivity filter (By similarity).
Location(AA) Modifications Resource
289N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
6PhosphoserineHMM predict
6Phosphoserine(CDC2)HMM predict
51Phosphotyrosine(INSR)HMM predict
66O-linkedHMM predict
66O-linkedHMM predict
66Phosphoserine(MAPK)HMM predict
66Phosphoserine(CDC2)HMM predict
289N-linkedHMM predict
322PhosphothreonineHMM predict
407Phosphoserine(CDC2)HMM predict
407Phosphoserine(MAPK)HMM predict
409Phosphoserine(CDC2)HMM predict
409Phosphoserine(MAPK)HMM predict
409Phosphoserine(CDK)HMM predict
409Phosphoserine(ATM)HMM predict
432Phosphothreonine(MAPK)HMM predict
439Phosphothreonine(PKC)HMM predict
468Phosphoserine(CDK)HMM predict
484Phosphoserine(IKK)HMM predict
536Phosphotyrosine(Syk)HMM predict
627O-linkedHMM predict
632MethylarginineHMM predict
644O-linkedHMM predict
672ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000218
  • Location:chr11 2422796-2826914
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF pAbJurkat 2414805 2415683 878 7553
hScc1 BcellGSE12603 2418142 2418527 385 4462
No data
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 17443681
hsa-miR-1 hsa-mir-1-1 20 17443681
hsa-miR-1 hsa-mir-1-2 18 17443681
hsa-miR-1 hsa-mir-1-1 20 17443681
hsa-miR-1 hsa-mir-1-2 18 17443681
hsa-miR-1 hsa-mir-1-1 20 17443681
hsa-miR-1 hsa-mir-1-2 18 17443681
hsa-miR-1 hsa-mir-1-1 20 17443681
hsa-miR-133a hsa-mir-133a-1 18 18711016
hsa-miR-133a hsa-mir-133a-2 20 18711016
hsa-miR-133a hsa-mir-133a-1 18 17443681
hsa-miR-133a hsa-mir-133a-2 20 17443681
hsa-miR-133a hsa-mir-133a-1 18 18711016
hsa-miR-133a hsa-mir-133a-2 20 18711016
hsa-miR-133a hsa-mir-133a-1 18 17443681
hsa-miR-133a hsa-mir-133a-2 20 17443681
hsa-miR-133a hsa-mir-133a-1 18 18711016
hsa-miR-133a hsa-mir-133a-2 20 18711016
hsa-miR-133a hsa-mir-133a-1 18 17443681
hsa-miR-133a hsa-mir-133a-2 20 17443681
hsa-miR-133a hsa-mir-133a-1 18 18711016
hsa-miR-133a hsa-mir-133a-2 20 18711016
hsa-miR-133a hsa-mir-133a-1 18 17443681
hsa-miR-133a hsa-mir-133a-2 20 17443681
hsa-miR-133b hsa-mir-133b 6 18711016
hsa-miR-133b hsa-mir-133b 6 17443681
hsa-miR-133b hsa-mir-133b 6 18711016
hsa-miR-133b hsa-mir-133b 6 17443681
hsa-miR-133b hsa-mir-133b 6 18711016
hsa-miR-133b hsa-mir-133b 6 17443681
hsa-miR-133b hsa-mir-133b 6 18711016
hsa-miR-133b hsa-mir-133b 6 17443681
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
220 mRNA repression TRUE miR-1 KCNQ1 Luciferase assay 17443681
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000053918 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma, leukaemia"
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
3980 mRNA KCNQ1 chr11 2422796 2826915 444 mRNA chr11 2546396 2552769Sense/Antisense (SA) pairs

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