AutismKB 2.0

Annotation Detail for C1QC


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Basic Information Top
Gene Symbol:C1QC ( C1Q-C,C1QG,FLJ27103 )
Gene Full Name: complement component 1, q subcomponent, C chain
Band: 1p36.12
Quick LinksEntrez ID:714; OMIM: 120575; Uniprot ID:C1QC_HUMAN; ENSEMBL ID: ENSG00000159189; HGNC ID: 1245
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
364-hydroxyproline.
394-hydroxyproline.
424-hydroxyproline.
454-hydroxyproline.
544-hydroxyproline.
575-hydroxylysine.
634-hydroxyproline.
755-hydroxylysine.
75O-linked (Gal...).
814-hydroxyproline.
934-hydroxyproline.
964-hydroxyproline.
994-hydroxyproline.
1054-hydroxyproline.
Location(AA) Modifications Resource
364-hydroxyproline.Swiss-Prot 53.0
394-hydroxyproline.Swiss-Prot 53.0
424-hydroxyproline.Swiss-Prot 53.0
454-hydroxyproline.Swiss-Prot 53.0
544-hydroxyproline.Swiss-Prot 53.0
575-hydroxylysine.Swiss-Prot 53.0
634-hydroxyproline.Swiss-Prot 53.0
75O-linked (Gal...).Swiss-Prot 53.0
755-hydroxylysine.Swiss-Prot 53.0
814-hydroxyproline.Swiss-Prot 53.0
934-hydroxyproline.Swiss-Prot 53.0
964-hydroxyproline.Swiss-Prot 53.0
994-hydroxyproline.Swiss-Prot 53.0
1054-hydroxyproline.Swiss-Prot 53.0
Location(AA) Modification Resource
50Phosphotyrosine(Syk)HMM predict
57O-linkedHMM predict
72O-linkedHMM predict
75O-linkedHMM predict
114Phosphotyrosine(EGFR)HMM predict
196O-linkedHMM predict
224Phosphotyrosine(Syk)HMM predict
225Phosphotyrosine(Syk)HMM predict
235Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_172369
  • Location:chr1 22842733-22847188
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 22841098 22841415 317 1477
CTCF CD4SISSRdata 22841098 22841415 317 1477
CTCF JurkatGSE12889 22841089 22841432 343 1473
CTCF G2GSE9613 22840766 22841804 1038 1449
ER E2-MCF7GSE14664 22841125 22841166 41 1588
Rb SenescentGSE19898 22841222 22841375 153 1435
hScc1 BcellGSE12603 22840368 22841583 1215 1758
hScc1 CdLSGSE12603 22840730 22841469 739 1634
hScc1 G2GSE9613 22840095 22841469 1374 1952
No data
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