AutismKB 2.0

Annotation Detail for CST3


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Basic Information Top
Gene Symbol:CST3 ( ARMD11,MGC117328 )
Gene Full Name: cystatin C
Band: 20p11.21
Quick LinksEntrez ID:1471; OMIM: 604312; Uniprot ID:CYTC_HUMAN; ENSEMBL ID: ENSG00000101439; HGNC ID: 2475
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
85Secondary area of contact.
Location(AA) Modifications Resource
Location(AA) Modification Resource
28Phosphoserine(CDC2)HMM predict
136MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000099
  • Location:chr20 23562293-23566573
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 23568136 23568880 744 1935
H3ac HepG2E 23569129 23570073 944 3028
Pol2 GM12878GSE19551 23566440 23566751 311 22
TFAP2C MCF7GSE21234 23568046 23568520 474 1710
USF1 HepG2E 23569231 23570249 1018 3167
p130 QuiescentGSE19898 23571144 23571340 196 4669
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FoxA1 MCF7MACSdata 23554956 23555227 271 7202
USF1 HepG2E 23554195 23555616 1421 7388
USF1 HepG2E 23556753 23557319 566 5258
USF1 HepG2E 23557907 23558957 1050 3862
USF2 HepG2E 23556753 23557319 566 5258
USF2 HepG2E 23557907 23558957 1050 3862
hScc1 BcellGSE12603 23561986 23562326 340 138
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 23565249 23565465 216 0
H3ac HepG2E 23562688 23565465 2777 0
PHF8 HeLaGSE20725 23565824 23566736 912 0
PHF8 Hs68minusFBSGSE20725 23565891 23566810 919 0
PHF8 Hs68plusFBSGSE20725 23565624 23566988 1364 0
PolII HeLaGSE12783 23565628 23566859 1231 0
TFAP2C MCF7GSE21234 23563789 23564552 763 0
p130 SenescentGSE19898 23565885 23566137 252 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