AutismKB 2.0

Annotation Detail for C1QB


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Basic Information Top
Gene Symbol:C1QB ( - )
Gene Full Name: complement component 1, q subcomponent, B chain
Band: 1p36.12
Quick LinksEntrez ID:713; OMIM: 120570; Uniprot ID:C1QB_HUMAN; ENSEMBL ID: ENSG00000173369; HGNC ID: 1242
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
28Pyrrolidone carboxylic acid.
Location(AA) Modifications Resource
26Pyrrolidone carboxylic acid.Swiss-Prot 53.0
334-hydroxyproline.Swiss-Prot 53.0
364-hydroxyproline.Swiss-Prot 53.0
394-hydroxyproline.Swiss-Prot 53.0
424-hydroxyproline.Swiss-Prot 53.0
514-hydroxyproline.Swiss-Prot 53.0
544-hydroxyproline.Swiss-Prot 53.0
575-hydroxylysine.Swiss-Prot 53.0
57O-linked (Gal...).Swiss-Prot 53.0
605-hydroxylysine.Swiss-Prot 53.0
60O-linked (Gal...).Swiss-Prot 53.0
634-hydroxyproline.Swiss-Prot 53.0
755-hydroxylysine.Swiss-Prot 53.0
814-hydroxyproline.Swiss-Prot 53.0
844-hydroxyproline.Swiss-Prot 53.0
905-hydroxylysine.Swiss-Prot 53.0
96O-linked (Gal...).Swiss-Prot 53.0
965-hydroxylysine.Swiss-Prot 53.0
994-hydroxyproline.Swiss-Prot 53.0
1024-hydroxyproline.Swiss-Prot 53.0
1054-hydroxyproline.Swiss-Prot 53.0
1085-hydroxylysine.Swiss-Prot 53.0
108O-linked (Gal...).Swiss-Prot 53.0
Location(AA) Modification Resource
53Phosphothreonine(MAPK)HMM predict
53O-linkedHMM predict
57O-linkedHMM predict
60O-linkedHMM predict
75O-linkedHMM predict
90O-linkedHMM predict
96O-linkedHMM predict
108O-linkedHMM predict
111O-linkedHMM predict
114Phosphotyrosine(Syk)HMM predict
151Phosphotyrosine(Syk)HMM predict
238SerineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000491
  • Location:chr1 22852268-22860614
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22864978 22865163 185 4456
CTCF G2GSE9613 22873126 22873521 395 12709
CTCF G2GSE9613 22877090 22877351 261 16606
CTCF G2GSE9613 22880006 22880251 245 19514
Fos K562GSE19551 22861369 22862079 710 1110
hScc1 BcellGSE12603 22860498 22861186 688 228
hScc1 BcellGSE12603 22872073 22872372 299 11608
hScc1 BcellGSE12603 22872940 22873480 540 12596
hScc1 CdLSGSE12603 22872975 22873521 546 12634
hScc1 G2GSE9613 22873012 22873521 509 12652
No data
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