AutismKB 2.0

Annotation Detail for C21orf33


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Basic Information Top
Gene Symbol:C21orf33 ( ES1,GT335,HES1,KNPH,KNPI )
Gene Full Name: chromosome 21 open reading frame 33
Band: 21q22.3
Quick LinksEntrez ID:8209; OMIM: 601659; Uniprot ID:ES1_HUMAN; ENSEMBL ID: ENSG00000160221; HGNC ID: 1273
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
164N6-acetyllysine.
219N6-acetyllysine (By similarity).
Location(AA) Modifications Resource
219N6-acetyllysine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
22Phosphoserine(CDC2)HMM predict
27Phosphothreonine(MAPK)HMM predict
27Phosphothreonine(CDK)HMM predict
29Phosphoserine(PKC)HMM predict
29Phosphoserine(ATM)HMM predict
142N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004649
  • Location:chr21 44377923-44390019
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 44377199 44378429 1230 110
H3ac HepG2E 44377362 44377694 332 396
RARA MCF7GSE15244 44376540 44377001 461 1153
VDR GM10861-stimGSE22484 44376498 44378608 2110 371
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44391463 44391733 270 1579
CTCF CD4SISSRdata 44391463 44391733 270 1579
CTCF G2GSE9613 44403513 44404406 893 13940
NFkBII GM10847GSE19485 44403445 44405984 2539 14695
NFkBII GM12878GSE19485 44402883 44405038 2155 13941
NFkBII GM15510GSE19485 44403518 44404821 1303 14150
NFkBII GM18505GSE19485 44403614 44404851 1237 14213
NFkBII GM18526GSE19485 44403319 44405754 2435 14517
TFAP2C MCF7GSE21234 44398759 44399637 878 9179
hScc1 BcellGSE12603 44390690 44391181 491 916
hScc1 BcellGSE12603 44391456 44392622 1166 2020
hScc1 BcellGSE12603 44394821 44395274 453 5028
hScc1 BcellGSE12603 44397855 44398034 179 7925
hScc1 BcellGSE12603 44400336 44400816 480 10557
hScc1 BcellGSE12603 44406593 44407294 701 16924
hScc1 BcellGSE12603 44407591 44408298 707 17925
hScc1 BcellGSE12603 44408680 44409692 1012 19167
hScc1 CdLSGSE12603 44391216 44391901 685 1539
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 44383425 44385179 1754 0
CTCF G2GSE9613 44382310 44383332 1022 0
NFkBII GM12878GSE19485 44387207 44391081 3874 0
VDR GM10861-UnstimGSE22484 44377250 44378655 1405 0
hScc1 BcellGSE12603 44377362 44378539 1177 0
hScc1 BcellGSE12603 44382310 44383503 1193 0
hScc1 BcellGSE12603 44388593 44388875 282 0
hScc1 CdLSGSE12603 44377362 44378539 1177 0
hScc1 CdLSGSE12603 44382310 44382681 371 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-199b-3p hsa-mir-199b 9 19308264
hsa-miR-199b-3p hsa-mir-199b 9 19308264
hsa-miR-199b-5p hsa-mir-199b 9 19308264
hsa-miR-199b-5p hsa-mir-199b 9 19308264
No data
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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