AutismKB 2.0

Annotation Detail for KCNB1


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Basic Information Top
Gene Symbol:KCNB1 ( DRK1,KV2.1,h-DRK1 )
Gene Full Name: potassium voltage-gated channel, Shab-related subfamily, member 1
Band: 20q13.13
Quick LinksEntrez ID:3745; OMIM: 600397; Uniprot ID:KCNB1_HUMAN; ENSEMBL ID: ENSG00000158445; HGNC ID: 6231
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphoserine (By similarity).
15Phosphoserine (By similarity).
128Phosphotyrosine; by Src (By similarity).
382Selectivity filter (By similarity).
457Phosphoserine (By similarity).
484Phosphoserine (By similarity).
496Phosphoserine (By similarity).
503Phosphoserine (By similarity).
520Phosphoserine (By similarity).
541Phosphoserine (By similarity).
567Phosphoserine (By similarity).
590Phosphoserine (By similarity).
607Phosphoserine (By similarity).
656Phosphoserine (By similarity).
720Phosphoserine (By similarity).
772Phosphoserine (By similarity).
800Phosphoserine (By similarity).
805Phosphoserine (By similarity).
Location(AA) Modifications Resource
12Phosphoserine (By similarity).Swiss-Prot 53.0
656Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
13Phosphothreonine(PKA)HMM predict
14O-linkedHMM predict
14Phosphoserine(IKK)HMM predict
15Phosphoserine(PKA)HMM predict
15O-linkedHMM predict
83SulfotyrosineHMM predict
116Phosphoserine(ATM)HMM predict
133S-palmitoylHMM predict
154Phosphothreonine(PKC)HMM predict
251Phosphoserine(CDC2)HMM predict
362MethyllysineHMM predict
380SulfotyrosineHMM predict
398S-palmitoylHMM predict
442N-linkedHMM predict
444Phosphoserine(IKK)HMM predict
496Phosphoserine(CAMK2)HMM predict
496Phosphoserine(IKK)HMM predict
496Phosphoserine(CK2)HMM predict
496Phosphoserine(CK1)HMM predict
499Phosphoserine(CK1)HMM predict
503Phosphoserine(IKK)HMM predict
517Phosphoserine(CK1)HMM predict
518PhosphoserineHMM predict
518Phosphoserine(PKG)HMM predict
518O-linkedHMM predict
519Phosphoserine(PKB)HMM predict
519PhosphoserineHMM predict
519Phosphoserine(CK1)HMM predict
520Phosphoserine(CDC2)HMM predict
520Phosphoserine(ATM)HMM predict
533Phosphotyrosine(Syk)HMM predict
541Phosphoserine(ATM)HMM predict
567Phosphoserine(MAPK)HMM predict
567Phosphoserine(CDK)HMM predict
567Phosphoserine(CDC2)HMM predict
567O-linkedHMM predict
605O-linkedHMM predict
607Phosphoserine(CDC2)HMM predict
611Phosphoserine(MAPK)HMM predict
619O-linkedHMM predict
641N-linkedHMM predict
643Phosphoserine(ATM)HMM predict
643O-linkedHMM predict
647Phosphoserine(ATM)HMM predict
682Phosphoserine(CDK)HMM predict
720Phosphoserine(MAPK)HMM predict
723O-linkedHMM predict
724Phosphoserine(CK1)HMM predict
726Phosphotyrosine(INSR)HMM predict
727O-linkedHMM predict
728O-linkedHMM predict
730O-linkedHMM predict
733Phosphothreonine(CDK)HMM predict
733Phosphothreonine(MAPK)HMM predict
733Phosphothreonine(CDC2)HMM predict
737Phosphoserine(CDC2)HMM predict
737Phosphoserine(CDK)HMM predict
773PhosphoserineHMM predict
773Phosphoserine(IKK)HMM predict
773Phosphoserine(CDC2)HMM predict
773Phosphoserine(ATM)HMM predict
777Phosphoserine(IKK)HMM predict
783Phosphoserine(CDC2)HMM predict
805Phosphoserine(CDC2)HMM predict
805Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004975
  • Location:chr20 47421911-47532587
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47534162 47534385 223 1686
CTCF CD4SISSRdata 47534162 47534385 223 1686
CTCF G2GSE9613 47534163 47534413 250 1701
H3K27me3 colorectalcancer 47535660 47536578 918 3532
NRSF mAbJurkat 47535732 47537535 1803 4046
hScc1 BcellGSE12603 47533784 47534413 629 1511
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47434528 47434831 303 0
CTCF CD4SISSRdata 47434528 47434831 303 0
CTCF G2GSE9613 47433250 47433730 480 0
CTCF G2GSE9613 47434166 47435425 1259 0
Fos K562GSE19551 47435298 47435795 497 0
Fos K562GSE19551 47498882 47499389 507 0
Fos K562GSE19551 47516531 47516851 320 0
NRSF JurkatGSE13047 47531519 47533460 1941 0
NRSF mAbJurkat 47435012 47435425 413 0
NRSF mAbJurkat 47526039 47526260 221 0
NRSF mAbJurkat 47528141 47532031 3890 0
NRSF-mono JurkatQuESTdata 47531479 47533526 2047 0
NRSF-poly JurkatQuESTdata 47531558 47533489 1931 0
P300 T0-glioblastomaGSE21026 47450584 47451447 863 0
TFAP2C MCF7GSE21234 47422068 47422687 619 0
TFAP2C MCF7GSE21234 47434336 47434798 462 0
TFAP2C MCF7GSE21234 47514368 47514904 536 0
USF1 HepG2E 47434523 47435425 902 0
USF1 HepG2E 47435783 47436256 473 0
USF1 HepG2E 47436727 47438479 1752 0
USF2 HepG2E 47434684 47435425 741 0
USF2 HepG2E 47435783 47436256 473 0
hScc1 BcellGSE12603 47434651 47435084 433 0
hScc1 BcellGSE12603 47474456 47474903 447 0
hScc1 BcellGSE12603 47487549 47487819 270 0
hScc1 BcellGSE12603 47496735 47497080 345 0
hScc1 BcellGSE12603 47514440 47514688 248 0
p63 keratinocytesGSE17611 47431218 47432448 1230 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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