AutismKB 2.0

Annotation Detail for PLCH2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PLCH2 ( PLC-eta2,PLCL4,PLCeta2 )
Gene Full Name: phospholipase C, eta 2
Band: 1p36.32
Quick LinksEntrez ID:9651; OMIM: 612836; Uniprot ID:PLCH2_HUMAN; ENSEMBL ID: ENSG00000149527; HGNC ID: 29037
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
595Phosphoserine (By similarity).
605Phosphoserine (By similarity).
Location(AA) Modifications Resource
Location(AA) Modification Resource
195Phosphothreonine(PKA)HMM predict
333N-linkedHMM predict
337Phosphoserine(CDC2)HMM predict
364O-linkedHMM predict
370Phosphotyrosine(Jak)HMM predict
476Phosphoserine(CK1)HMM predict
480O-linkedHMM predict
480O-linkedHMM predict
513Phosphoserine(CK2)HMM predict
513PhosphoserineHMM predict
517Phosphoserine(CK2)HMM predict
517Phosphoserine(CK1)HMM predict
571Phosphoserine(CDC2)HMM predict
571Phosphoserine(CDK)HMM predict
571Phosphoserine(MAPK)HMM predict
580Phosphoserine(PKG)HMM predict
588Phosphoserine(CK2)HMM predict
588Phosphoserine(CK1)HMM predict
631Phosphoserine(IKK)HMM predict
640Phosphothreonine(PKC)HMM predict
645Phosphothreonine(PKA)HMM predict
678O-linkedHMM predict
710Phosphoserine(CDK)HMM predict
710Phosphoserine(CDC2)HMM predict
719Phosphotyrosine(Syk)HMM predict
758Phosphotyrosine(Jak)HMM predict
840N-linkedHMM predict
948Phosphoserine(ATM)HMM predict
957Phosphoserine(PKA)HMM predict
957Phosphoserine(CAMK2)HMM predict
960O-linkedHMM predict
962Phosphoserine(ATM)HMM predict
980Phosphothreonine(PKA)HMM predict
1010Phosphoserine(CDC2)HMM predict
1010Phosphoserine(CDK)HMM predict
1012MethylarginineHMM predict
1068Phosphoserine(ATM)HMM predict
1068O-linkedHMM predict
1068Phosphoserine(CDC2)HMM predict
1088Phosphoserine(IKK)HMM predict
1124Phosphoserine(IKK)HMM predict
1127Phosphoserine(ATM)HMM predict
1130Phosphoserine(CK2)HMM predict
1130Phosphoserine(CK1)HMM predict
1131Phosphoserine(CDC2)HMM predict
1131Phosphoserine(IKK)HMM predict
1131Phosphoserine(ATM)HMM predict
1131Phosphoserine(CDK)HMM predict
1134Phosphoserine(IKK)HMM predict
1134Phosphoserine(ATM)HMM predict
1134Phosphoserine(CDC2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014638
  • Location:chr1 2397613-2426823
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2378345 2378489 144 19197
CTCF G2GSE9613 2379333 2380079 746 17908
CTCF G2GSE9613 2380453 2381554 1101 16610
CTCF G2GSE9613 2387551 2387797 246 9940
CTCF G2GSE9613 2389115 2389304 189 8404
CTCF G2GSE9613 2390228 2390593 365 7203
CTCF G2GSE9613 2391665 2392133 468 5715
CTCF G2GSE9613 2392402 2393361 959 4732
CTCF G2GSE9613 2395887 2396415 528 1463
NRSF JurkatGSE13047 2387144 2391810 4666 8137
NRSF mAbJurkat 2389390 2390448 1058 7695
NRSF-mono JurkatQuESTdata 2387182 2391813 4631 8116
NRSF-poly JurkatQuESTdata 2387144 2391533 4389 8275
Rb GrowingGSE19898 2392653 2392779 126 4898
TFAP2C MCF7GSE21234 2396199 2397140 941 944
hScc1 BcellGSE12603 2378663 2379076 413 18744
hScc1 BcellGSE12603 2381044 2381594 550 16295
hScc1 BcellGSE12603 2383244 2383844 600 14070
hScc1 BcellGSE12603 2391740 2392230 490 5629
hScc1 BcellGSE12603 2393172 2393312 140 4372
hScc1 BcellGSE12603 2394677 2394972 295 2789
hScc1 BcellGSE12603 2396121 2396655 534 1226
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 2415355 2416207 852 0
CTCF G2GSE9613 2399147 2399708 561 0
CTCF G2GSE9613 2400900 2401341 441 0
CTCF G2GSE9613 2402451 2403115 664 0
CTCF G2GSE9613 2414431 2415137 706 0
CTCF G2GSE9613 2416447 2416987 540 0
CTCF G2GSE9613 2418641 2419046 405 0
CTCF G2GSE9613 2419344 2419887 543 0
CTCF G2GSE9613 2420399 2420638 239 0
CTCF G2GSE9613 2421087 2421920 833 0
CTCF G2GSE9613 2423396 2424208 812 0
CTCF G2GSE9613 2425112 2426752 1640 0
NRSF JurkatGSE13047 2403473 2404681 1208 0
NRSF-mono JurkatQuESTdata 2403537 2404737 1200 0
NRSF-poly JurkatQuESTdata 2403200 2404474 1274 0
P300 T0-glioblastomaGSE21026 2415529 2415947 418 0
P300 T30-glioblastomaGSE21026 2415278 2416058 780 0
TFAP2C MCF7GSE21234 2403084 2403602 518 0
TFAP2C MCF7GSE21234 2404405 2404840 435 0
TFAP2C MCF7GSE21234 2413170 2413790 620 0
TFAP2C MCF7GSE21234 2415555 2415988 433 0
TFAP2C MCF7GSE21234 2420336 2421103 767 0
hScc1 BcellGSE12603 2397785 2399147 1362 0
hScc1 BcellGSE12603 2410664 2410930 266 0
hScc1 BcellGSE12603 2416104 2417874 1770 0
hScc1 BcellGSE12603 2423321 2426140 2819 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