AutismKB 2.0

Annotation Detail for C3


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Basic Information Top
Gene Symbol:C3 ( AHUS5,ARMD9,ASP,CPAMD1 )
Gene Full Name: complement component 3
Band: 19p13.3
Quick LinksEntrez ID:718; OMIM: 120700; Uniprot ID:CO3_HUMAN; ENSEMBL ID: ENSG00000125730; HGNC ID: 1318
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
85N-linked (GlcNAc...).
297Phosphoserine.
489Phosphotyrosine (By similarity).
939N-linked (GlcNAc...).
1571Phosphoserine.
1573Phosphoserine.
1617N-linked (GlcNAc...).
Location(AA) Modifications Resource
85N-linked (GlcNAc...).Swiss-Prot 53.0
742PhosphoserinePhospho.ELM 6.0
939N-linked (GlcNAc...).Swiss-Prot 53.0
1010Isoglutamyl cysteine thioester (Cys-Gln).Swiss-Prot 53.0
1031PhosphothreoninePhospho.ELM 6.0
1617N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
85N-linkedHMM predict
139Phosphotyrosine(INSR)HMM predict
140Phosphothreonine(CDK)HMM predict
140Phosphothreonine(MAPK)HMM predict
179Phosphoserine(PKA)HMM predict
181Phosphoserine(CK1)HMM predict
182Phosphoserine(ATM)HMM predict
182Phosphoserine(CK1)HMM predict
227Phosphotyrosine(INSR)HMM predict
244SulfotyrosineHMM predict
283Phosphoserine(PKG)HMM predict
283Phosphoserine(CK1)HMM predict
325Phosphotyrosine(EGFR)HMM predict
351Phosphoserine(CDC2)HMM predict
385Phosphotyrosine(INSR)HMM predict
385Phosphotyrosine(Abl)HMM predict
385Phosphotyrosine(SRC)HMM predict
432Phosphoserine(CK2)HMM predict
650O-linkedHMM predict
672Phosphoserine(PKB)HMM predict
672Phosphoserine(PKG)HMM predict
672Phosphoserine(PKA)HMM predict
711Phosphothreonine(PKA)HMM predict
887O-linkedHMM predict
928Phosphoserine(PKG)HMM predict
939N-linkedHMM predict
976Phosphoserine(CK1)HMM predict
991Phosphothreonine(PKC)HMM predict
1180Phosphotyrosine(INSR)HMM predict
1266Phosphotyrosine(INSR)HMM predict
1272O-linkedHMM predict
1305Phosphoserine(CK1)HMM predict
1373Phosphothreonine(CDK)HMM predict
1373Phosphothreonine(PKC)HMM predict
1439Phosphoserine(CK2)HMM predict
1454Phosphoserine(IKK)HMM predict
1543Phosphotyrosine(Jak)HMM predict
1561Phosphotyrosine(INSR)HMM predict
1561SulfotyrosineHMM predict
1586Phosphoserine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000064
  • Location:chr19 6628846-6671661
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 6675349 6675388 39 3707
H3ac HepG2E 6676391 6676699 308 4884
Oct1 H2O2-HelaGSE14283 6679810 6679847 37 8167
Oct1 HelaGSE14283 6674933 6674973 40 3292
Oct1 HelaGSE14283 6679810 6679847 37 8167
STAT1 HeLaGSE12782 6669360 6675387 6027 712
STAT1 HeLaGSE12783 6669247 6675387 6140 656
STAT1 IFNSISSRdata 6673833 6674627 794 2569
hScc1 BcellGSE12603 6679340 6679481 141 7749
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 6625721 6626380 659 2796
P300 T30-glioblastomaGSE21026 6625582 6626436 854 2838
TFAP2C MCF7GSE21234 6625968 6626425 457 2650
hScc1 BcellGSE12603 6625704 6626225 521 2882
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 6643836 6644316 480 0
H3ac HepG2E 6670188 6671667 1479 0
Oct1 HelaGSE14283 6663974 6664009 35 0
Oct1 HelaGSE14283 6666502 6666542 40 0
PolII HeLaGSE12783 6669859 6672458 2599 0
RNAII Tamoxifen-MCF7GSE14664 6663974 6664012 38 0
SRF GMOGSE8489 6668985 6669189 204 0
Stat6 IL-4-hr1GSE17850 6636613 6637214 601 0
TAF HelaGSE8489 6670672 6671522 850 0
USF2 HepG2E 6670223 6671594 1371 0
hScc1 BcellGSE12603 6629723 6630077 354 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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