AutismKB 2.0

Annotation Detail for KCNMB1


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Basic Information Top
Gene Symbol:KCNMB1 ( K(VCA)beta,SLO-BETA,hslo-beta )
Gene Full Name: potassium large conductance calcium-activated channel, subfamily M, beta member 1
Band: 5q35.1
Quick LinksEntrez ID:3779; OMIM: 603951; Uniprot ID:KCMB1_HUMAN; ENSEMBL ID: ENSG00000145936; HGNC ID: 6285
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
80N-linked (GlcNAc...) (Potential).
142N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
80N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
142N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36O-linkedHMM predict
142N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004137
  • Location:chr5 169737744-169749215
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 169739004 169739223 219 0
CTCF G2GSE9613 169740069 169740336 267 0
CTCF G2GSE9613 169743189 169743322 133 0
CTCF G2GSE9613 169744757 169745078 321 0
CTCF G2GSE9613 169748552 169749136 584 0
NFkBII GM12878GSE19485 169746142 169748019 1877 0
NRSF pAbJurkat 169739042 169739223 181 0
TFAP2C MCF7GSE21234 169739823 169740684 861 0
TFAP2C MCF7GSE21234 169747292 169748012 720 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 19004760
hsa-miR-1 hsa-mir-1-1 20 19004760
No data
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
21824 EST chr5 169713284 169845552 11472 mRNA KCNMB1 chr5 169737744 169749216 Non-exonic Bidirectional (NOB) 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