AutismKB 2.0

Annotation Detail for KCNQ5


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KCNQ5 ( Kv7.5 )
Gene Full Name: potassium voltage-gated channel, KQT-like subfamily, member 5
Band: 6q13
Quick LinksEntrez ID:56479; OMIM: 607357; Uniprot ID:KCNQ5_HUMAN; ENSEMBL ID: ENSG00000185760; HGNC ID: 6299
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
316Selectivity filter (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
185S-palmitoylHMM predict
186S-palmitoylHMM predict
213O-linkedHMM predict
298Phosphotyrosine(Syk)HMM predict
387O-linkedHMM predict
387Phosphoserine(CK1)HMM predict
416Phosphoserine(IKK)HMM predict
416Phosphoserine(ATM)HMM predict
429Phosphoserine(CAMK2)HMM predict
441Phosphoserine(PKB)HMM predict
441Phosphoserine(CAMK2)HMM predict
449Phosphoserine(PKB)HMM predict
449Phosphoserine(IKK)HMM predict
453O-linkedHMM predict
476Phosphoserine(PKC)HMM predict
482Phosphoserine(ATM)HMM predict
515Phosphothreonine(MAPK)HMM predict
596Phosphothreonine(CK2)HMM predict
635Phosphoserine(PKG)HMM predict
659Phosphoserine(IKK)HMM predict
667Phosphoserine(CK1)HMM predict
667Phosphoserine(CK2)HMM predict
667Phosphoserine(IKK)HMM predict
673Phosphoserine(IKK)HMM predict
681Phosphoserine(IKK)HMM predict
681Phosphoserine(PKB)HMM predict
719Phosphoserine(ATM)HMM predict
781O-linkedHMM predict
797N-linkedHMM predict
849Phosphoserine(CK1)HMM predict
854Phosphoserine(CK1)HMM predict
905Phosphothreonine(PKC)HMM predict
911PhosphoserineHMM predict
911Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019842
  • Location:chr6 73388555-73962299
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73382897 73383134 237 5540
CTCF CD4SISSRdata 73382897 73383134 237 5540
CTCF G2GSE9613 73382888 73383143 255 5540
CTCF G2GSE9613 73388095 73388381 286 318
Rb shRbQuiescentGSE19898 73387712 73387945 233 727
hScc1 BcellGSE12603 73382708 73383253 545 5575
hScc1 CdLSGSE12603 73382708 73383594 886 5405
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 73975758 73975975 217 13567
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 73896436 73896786 350 0
CTCF CD4GSE12889 73947493 73947784 291 0
CTCF CD4SISSRdata 73896436 73896786 350 0
CTCF CD4SISSRdata 73947493 73947784 291 0
CTCF HelaGSE12889 73896433 73896687 254 0
CTCF G2GSE9613 73388615 73388973 358 0
CTCF G2GSE9613 73389527 73389753 226 0
CTCF G2GSE9613 73391251 73391482 231 0
CTCF G2GSE9613 73449273 73449417 144 0
CTCF G2GSE9613 73753607 73753928 321 0
CTCF G2GSE9613 73896155 73896769 614 0
CTCF G2GSE9613 73900951 73901407 456 0
CTCF G2GSE9613 73923621 73924194 573 0
CTCF G2GSE9613 73961056 73961201 145 0
ER MCF7GSE19013 73794424 73795253 829 0
FoxA1 MCF7MACSdata 73714031 73714286 255 0
FoxA1 MCF7MACSdata 73735158 73735372 214 0
H3K27me3 colorectalcancer 73389413 73390277 864 0
NRSF JurkatGSE13047 73888185 73888498 313 0
NRSF JurkatSISSRdata 73888280 73888504 224 0
NRSF mAbJurkat 73887171 73888118 947 0
NRSF-mono JurkatQuESTdata 73888252 73888526 274 0
NRSF-poly JurkatQuESTdata 73888152 73888532 380 0
Oct1 H2O2-HelaGSE14283 73639553 73639589 36 0
Oct1 H2O2-HelaGSE14283 73708871 73708902 31 0
Oct1 H2O2-HelaGSE14283 73790478 73790524 46 0
Oct1 HelaGSE14283 73447275 73447310 35 0
Oct1 HelaGSE14283 73639550 73639589 39 0
Oct1 HelaGSE14283 73659225 73659258 33 0
Oct1 HelaGSE14283 73666508 73666535 27 0
Oct1 HelaGSE14283 73667966 73668010 44 0
Oct1 HelaGSE14283 73876727 73876757 30 0
Oct1 HelaGSE14283 73901401 73901434 33 0
Oct1 HelaGSE14283 73940317 73940391 74 0
RNAII Tamoxifen-MCF7GSE14664 73449570 73449628 58 0
Rb QuiescentGSE19898 73896427 73896692 265 0
Rb SenescentGSE19898 73896394 73896753 359 0
TAF HelaGSE8489 73552136 73552357 221 0
TAF k562GSE8489 73389715 73390383 668 0
TAFII hESGSE17917 73896448 73896842 394 0
TFAP2C MCF7GSE21234 73822474 73822836 362 0
TFAP2C MCF7GSE21234 73896314 73896924 610 0
USF2 HepG2E 73502155 73502496 341 0
hScc1 BcellGSE12603 73388539 73389986 1447 0
hScc1 BcellGSE12603 73391215 73391482 267 0
hScc1 BcellGSE12603 73752961 73753237 276 0
hScc1 BcellGSE12603 73896116 73896884 768 0
hScc1 BcellGSE12603 73901053 73901262 209 0
hScc1 BcellGSE12603 73923726 73924012 286 0
hScc1 BcellGSE12603 73924397 73924653 256 0
hScc1 BcellGSE12603 73947445 73947965 520 0
hScc1 BcellGSE12603 73961092 73961405 313 0
hScc1 CdLSGSE12603 73388343 73390419 2076 0
hScc1 CdLSGSE12603 73390933 73391552 619 0
hScc1 CdLSGSE12603 73406262 73406803 541 0
hScc1 CdLSGSE12603 73455534 73455903 369 0
hScc1 CdLSGSE12603 73895981 73896960 979 0
hScc1 CdLSGSE12603 73947331 73947853 522 0
hScc1 G2GSE9613 73896090 73896848 758 0
hScc1 G2GSE9613 73947367 73947817 450 0
hScc1 G2GSE9613 73960945 73961334 389 0
p130 SenescentGSE19898 73577083 73577262 179 0
p63 keratinocytesGSE17611 73514860 73515803 943 0
p63 keratinocytesGSE17611 73553795 73555090 1295 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