AutismKB 2.0

Annotation Detail for CD247


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Basic Information Top
Gene Symbol:CD247 ( CD3-ZETA,CD3H,CD3Q,CD3Z,T3Z,TCRZ )
Gene Full Name: CD247 molecule
Band: 1q24.2
Quick LinksEntrez ID:919; OMIM: 186780; Uniprot ID:CD3Z_HUMAN; ENSEMBL ID: ENSG00000198821; HGNC ID: 1677
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
58Phosphoserine.
64Phosphotyrosine.
72Phosphotyrosine.
83Phosphotyrosine.
111Phosphotyrosine.
123Phosphotyrosine.
142Phosphotyrosine.
153Phosphotyrosine.
Location(AA) Modifications Resource
58Phosphoserine.Swiss-Prot 53.0
58PhosphoserinePhospho.ELM 6.0
64Phosphotyrosine.Swiss-Prot 53.0
64PhosphotyrosinePhospho.ELM 6.0
72Phosphotyrosine.Swiss-Prot 53.0
72PhosphotyrosinePhospho.ELM 6.0
83PhosphotyrosinePhospho.ELM 6.0
83Phosphotyrosine.Swiss-Prot 53.0
111Phosphotyrosine (Fyn)Phospho.ELM 6.0
111Phosphotyrosine.Swiss-Prot 53.0
123Phosphotyrosine.Swiss-Prot 53.0
123Phosphotyrosine (Fyn)Phospho.ELM 6.0
142PhosphotyrosinePhospho.ELM 6.0
142Phosphotyrosine.Swiss-Prot 53.0
153Phosphotyrosine.Swiss-Prot 53.0
153PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
83Phosphotyrosine(INSR)HMM predict
83Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000734
  • Location:chr1 165666507-165754449
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 165760392 165760990 598 6242
Oct1 HelaGSE14283 165757364 165757432 68 2949
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 165666345 165666632 287 19
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 165677988 165678379 391 0
CTCF CD4SISSRdata 165677988 165678379 391 0
CTCF G2GSE9613 165669727 165669972 245 0
CTCF G2GSE9613 165675148 165675353 205 0
CTCF G2GSE9613 165676530 165676797 267 0
CTCF G2GSE9613 165678002 165678693 691 0
CTCF G2GSE9613 165690739 165691669 930 0
CTCF G2GSE9613 165713792 165713997 205 0
CTCF G2GSE9613 165719874 165720120 246 0
CTCF G2GSE9613 165729704 165729838 134 0
CTCF G2GSE9613 165753394 165753784 390 0
Fos K562GSE19551 165753238 165753845 607 0
Myc K562GSE19551 165727887 165728237 350 0
Oct1 H2O2-HelaGSE14283 165675436 165675464 28 0
Oct1 H2O2-HelaGSE14283 165727372 165727399 27 0
Oct1 HelaGSE14283 165666620 165666658 38 0
Oct1 HelaGSE14283 165667627 165667659 32 0
Oct1 HelaGSE14283 165667989 165668067 78 0
Oct1 HelaGSE14283 165739135 165739201 66 0
hScc1 BcellGSE12603 165667415 165668120 705 0
hScc1 BcellGSE12603 165676313 165676638 325 0
hScc1 BcellGSE12603 165678002 165678693 691 0
hScc1 BcellGSE12603 165690739 165691669 930 0
hScc1 CdLSGSE12603 165678002 165678514 512 0
hScc1 G2GSE9613 165678002 165678693 691 0
p130 QuiescentGSE19898 165675299 165675747 448 0
p130 SenescentGSE19898 165675204 165675776 572 0
p130 shRbQuiescentGSE19898 165675310 165675756 446 0
p130 shRbSenescentGSE19898 165675308 165675694 386 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
1894 mRNA chr1 164177804 164179726 1922 mRNA CD3Z chr1 164131542 164219484 Non-exonic Bidirectional (NOB) pairs

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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