AutismKB 2.0

Annotation Detail for KCNH8


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Basic Information Top
Gene Symbol:KCNH8 ( ELK,ELK1,Kv12.1,elk3 )
Gene Full Name: potassium voltage-gated channel, subfamily H (eag-related), member 8
Band: 3p24.3
Quick LinksEntrez ID:131096; OMIM: 608260; Uniprot ID:KCNH8_HUMAN; ENSEMBL ID: ENSG00000183960; HGNC ID: 18864
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
320N-linked (GlcNAc...) (Potential).
409N-linked (GlcNAc...) (Potential).
439Selectivity filter (By similarity).
Location(AA) Modifications Resource
320N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
409N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
65S-palmitoylHMM predict
103N-linkedHMM predict
131MethyllysineHMM predict
167Phosphoserine(PKG)HMM predict
252Phosphoserine(CK1)HMM predict
254O-linkedHMM predict
256Phosphoserine(PKA)HMM predict
257O-linkedHMM predict
257Phosphothreonine(PKA)HMM predict
258Phosphothreonine(PKC)HMM predict
258Phosphothreonine(PKA)HMM predict
320N-linkedHMM predict
349Phosphoserine(CK1)HMM predict
409N-linkedHMM predict
410N-linkedHMM predict
444Phosphothreonine(CK2)HMM predict
468N-linkedHMM predict
589Phosphotyrosine(Jak)HMM predict
692Phosphoserine(ATM)HMM predict
736Phosphoserine(PKB)HMM predict
770O-linkedHMM predict
774Phosphoserine(IKK)HMM predict
774Phosphoserine(CDC2)HMM predict
774Phosphoserine(CDK)HMM predict
821N-linkedHMM predict
822Phosphoserine(CK1)HMM predict
822Phosphoserine(CK2)HMM predict
838Phosphoserine(CK1)HMM predict
843Phosphoserine(MAPK)HMM predict
900Phosphoserine(CDC2)HMM predict
944Phosphotyrosine(Abl)HMM predict
953N-linkedHMM predict
964Phosphoserine(IKK)HMM predict
969Phosphoserine(CDC2)HMM predict
986Phosphotyrosine(INSR)HMM predict
986Phosphotyrosine(Syk)HMM predict
988Phosphoserine(ATM)HMM predict
998Phosphotyrosine(SRC)HMM predict
998Phosphotyrosine(Syk)HMM predict
1019O-linkedHMM predict
1021Phosphothreonine(MAPK)HMM predict
1021Phosphothreonine(CDK)HMM predict
1033Phosphoserine(IKK)HMM predict
1037Phosphoserine(CK1)HMM predict
1038O-linkedHMM predict
1041Phosphoserine(CK1)HMM predict
1050Phosphoserine(CK1)HMM predict
1056Phosphoserine(ATM)HMM predict
1056O-linkedHMM predict
1064Phosphoserine(CK1)HMM predict
1089ProlineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_144633
  • Location:chr3 19165020-19552138
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 19146617 19146653 36 18386
TFAP2C MCF7GSE21234 19163528 19164171 643 1171
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 19559365 19560038 673 7563
Myc hESGSE17917 19559734 19560072 338 7765
Nanog ESGSE20650 19569190 19569748 558 17331
hScc1 BcellGSE12603 19559438 19560038 600 7600
hScc1 CdLSGSE12603 19559588 19560038 450 7675
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19365513 19365796 283 0
CTCF CD4SISSRdata 19365513 19365796 283 0
ER E2-MCF7GSE14664 19516965 19517001 36 0
H3K4me3 colorectalcancer 19165145 19165587 442 0
Myc hESGSE17917 19267470 19267841 371 0
Myc hESGSE17917 19489895 19490255 360 0
NRSF JurkatGSE13047 19165543 19166441 898 0
NRSF mAbJurkat 19165034 19167993 2959 0
NRSF mAbJurkat 19168683 19169117 434 0
NRSF mAbJurkat 19181099 19181447 348 0
NRSF-mono JurkatQuESTdata 19165668 19166440 772 0
NRSF-poly JurkatQuESTdata 19165778 19166464 686 0
Nanog ESGSE20650 19243099 19243375 276 0
Nanog ESGSE20650 19283474 19284025 551 0
Nanog ESGSE20650 19309672 19310275 603 0
Nanog hESGSE18292 19230181 19230335 154 0
Oct1 H2O2-HelaGSE14283 19485237 19485268 31 0
Oct1 H2O2-HelaGSE14283 19487510 19487542 32 0
Oct1 H2O2-HelaGSE14283 19545439 19545476 37 0
Oct1 HelaGSE14283 19344622 19344649 27 0
Oct1 HelaGSE14283 19389464 19389497 33 0
Oct1 HelaGSE14283 19438832 19438865 33 0
Oct1 HelaGSE14283 19444781 19444812 31 0
Oct1 HelaGSE14283 19479492 19479519 27 0
Oct1 HelaGSE14283 19485201 19485274 73 0
Oct1 HelaGSE14283 19487497 19487541 44 0
Oct1 HelaGSE14283 19511747 19511783 36 0
Oct1 HelaGSE14283 19516338 19516381 43 0
Oct1 HelaGSE14283 19545437 19545475 38 0
RNAII Tamoxifen-MCF7GSE14664 19257571 19257615 44 0
hScc1 BcellGSE12603 19365369 19365858 489 0
hScc1 CdLSGSE12603 19365339 19366088 749 0
p63 keratinocytesGSE17611 19473698 19474588 890 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-143 hsa-mir-143 5 19578358
hsa-miR-143 hsa-mir-143 5 19578358
hsa-miR-143 hsa-mir-143 5 19578358
hsa-miR-143* hsa-mir-143 5 19578358
hsa-miR-143* hsa-mir-143 5 19578358
hsa-miR-143* hsa-mir-143 5 19578358
hsa-miR-145 hsa-mir-145 5 19578358
hsa-miR-145 hsa-mir-145 5 19578358
hsa-miR-145 hsa-mir-145 5 19578358
hsa-miR-145* hsa-mir-145 5 19578358
hsa-miR-145* hsa-mir-145 5 19578358
hsa-miR-145* hsa-mir-145 5 19578358
hsa-miR-155 hsa-mir-155 21 20003307
hsa-miR-155 hsa-mir-155 21 20003307
hsa-miR-155 hsa-mir-155 21 20003307
hsa-miR-155* hsa-mir-155 21 20003307
hsa-miR-155* hsa-mir-155 21 20003307
hsa-miR-155* hsa-mir-155 21 20003307
hsa-miR-17 hsa-mir-17 13 20003307
hsa-miR-17 hsa-mir-17 13 20003307
hsa-miR-17 hsa-mir-17 13 20003307
hsa-miR-17* hsa-mir-17 13 20003307
hsa-miR-17* hsa-mir-17 13 20003307
hsa-miR-17* hsa-mir-17 13 20003307
hsa-miR-21 hsa-mir-21 17 20003307
hsa-miR-21 hsa-mir-21 17 20003307
hsa-miR-21 hsa-mir-21 17 20003307
hsa-miR-21* hsa-mir-21 17 20003307
hsa-miR-21* hsa-mir-21 17 20003307
hsa-miR-21* hsa-mir-21 17 20003307
hsa-miR-424 hsa-mir-424 X 20003307
hsa-miR-424 hsa-mir-424 X 20003307
hsa-miR-424 hsa-mir-424 X 20003307
hsa-miR-424* hsa-mir-424 X 20003307
hsa-miR-424* hsa-mir-424 X 20003307
hsa-miR-424* hsa-mir-424 X 20003307
hsa-miR-92a hsa-mir-92a-1 13 20003307
hsa-miR-92a hsa-mir-92a-2 X 20003307
hsa-miR-92a hsa-mir-92a-1 13 20003307
hsa-miR-92a hsa-mir-92a-2 X 20003307
hsa-miR-92a hsa-mir-92a-1 13 20003307
hsa-miR-92a hsa-mir-92a-2 X 20003307
No data
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