AutismKB 2.0

Annotation Detail for PLCG1


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Basic Information Top
Gene Symbol:PLCG1 ( NCKAP3,PLC-II,PLC1,PLC148,PLCgamma1 )
Gene Full Name: phospholipase C, gamma 1
Band: 20q12
Quick LinksEntrez ID:5335; OMIM: 172420; Uniprot ID:PLCG1_HUMAN; ENSEMBL ID: ENSG00000124181; HGNC ID: 9065
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
6Phosphoserine.
379Phosphotyrosine (By similarity).
481Phosphotyrosine (By similarity).
506Phosphotyrosine (By similarity).
525Phosphoserine.
771Phosphotyrosine.
775Phosphotyrosine.
783Phosphotyrosine.
977Phosphotyrosine.
1221Phosphoserine.
1248Phosphoserine (By similarity).
1253Phosphotyrosine.
1263Phosphoserine.
Location(AA) Modifications Resource
472Phosphotyrosine (EGFR;FGFR1)Phospho.ELM 6.0
771Phosphotyrosine.Swiss-Prot 53.0
771Phosphotyrosine (Syk;TRKB;Sky)Phospho.ELM 6.0
775Phosphotyrosine.Swiss-Prot 53.0
775PhosphotyrosinePhospho.ELM 6.0
783Phosphotyrosine.Swiss-Prot 53.0
783Phosphotyrosine (Syk;TRKB;EGF)Phospho.ELM 6.0
1248Phosphoserine (PKC alpha;PK)Phospho.ELM 6.0
1253Phosphotyrosine.Swiss-Prot 53.0
1253Phosphotyrosine (TRKB;EGFR;FG)Phospho.ELM 6.0
1253Phosphotyrosine (PDGFR beta;E)Phospho.ELM 6.0
Location(AA) Modification Resource
6Phosphoserine(IKK)HMM predict
93SulfotyrosineHMM predict
93Phosphotyrosine(Syk)HMM predict
93PhosphotyrosineHMM predict
125Phosphothreonine(CK2)HMM predict
250Phosphoserine(PKG)HMM predict
349Phosphoserine(CK1)HMM predict
472Phosphotyrosine(Abl)HMM predict
472Phosphotyrosine(SRC)HMM predict
472Phosphotyrosine(Syk)HMM predict
472Phosphotyrosine(EGFR)HMM predict
518Phosphotyrosine(INSR)HMM predict
518Phosphotyrosine(Syk)HMM predict
524Phosphoserine(CK1)HMM predict
525Phosphoserine(CK1)HMM predict
539Phosphoserine(CK2)HMM predict
540Phosphoserine(CK1)HMM predict
541Phosphoserine(CK1)HMM predict
654Phosphoserine(PKG)HMM predict
771Phosphotyrosine(EGFR)HMM predict
771Phosphotyrosine(SRC)HMM predict
771SulfotyrosineHMM predict
783Phosphotyrosine(EGFR)HMM predict
932O-linkedHMM predict
938Phosphothreonine(PKC)HMM predict
972Phosphothreonine(PKC)HMM predict
1023Phosphotyrosine(Syk)HMM predict
1023Phosphotyrosine(INSR)HMM predict
1042Phosphothreonine(CDC2)HMM predict
1253Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002660
  • Location:chr20 39199574-39237770
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39197296 39197538 242 2158
CTCF CD4SISSRdata 39197296 39197538 242 2158
CTCF G2GSE9613 39196490 39197843 1353 2408
CTCF G2GSE9613 39199398 39199712 314 20
H3ac HepG2E 39196703 39198559 1856 1944
PHF8 HeLaGSE20725 39198555 39200455 1900 70
hScc1 BcellGSE12603 39197129 39197737 608 2142
hScc1 BcellGSE12603 39198876 39199784 908 245
hScc1 CdLSGSE12603 39197129 39197772 643 2124
p130 shRbSenescentGSE19898 39198417 39199190 773 771
p63 keratinocytesGSE17611 39195510 39196625 1115 3507
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 39235273 39235530 257 0
CTCF CD4SISSRdata 39235273 39235530 257 0
CTCF G2GSE9613 39235253 39236003 750 0
Fos K562GSE19551 39211618 39212236 618 0
H3ac HepG2E 39200137 39204471 4334 0
H3ac HepG2E 39204965 39206144 1179 0
H3ac HepG2E 39208127 39208930 803 0
Rb GrowingGSE19898 39200860 39200974 114 0
Rb QuiescentGSE19898 39235231 39235504 273 0
Rb shRbSenescenceGSE19898 39200844 39200990 146 0
USF1 HepG2E 39200248 39201250 1002 0
USF1 HepG2E 39201502 39202146 644 0
hScc1 BcellGSE12603 39219016 39219590 574 0
hScc1 BcellGSE12603 39231158 39231430 272 0
hScc1 BcellGSE12603 39235014 39235870 856 0
hScc1 CdLSGSE12603 39234806 39235845 1039 0
hScc1 G2GSE9613 39235014 39235928 914 0
p63 keratinocytesGSE17611 39231481 39232537 1056 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-141 hsa-mir-141 12 20514023
hsa-miR-141* hsa-mir-141 12 20514023
hsa-miR-200a hsa-mir-200a 1 20514023
hsa-miR-200a* hsa-mir-200a 1 20514023
hsa-miR-200b hsa-mir-200b 1 20514023
hsa-miR-200b* hsa-mir-200b 1 20514023
hsa-miR-200c hsa-mir-200c 12 20514023
hsa-miR-200c* hsa-mir-200c 12 20514023
hsa-miR-429 hsa-mir-429 1 20514023
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
16373 mRNA PLCG1 chr20 39199574 39237771 145 mRNA chr20 39160382 39200054Sense/Antisense (SA) 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