AutismKB 2.0

Annotation Detail for CD320


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Basic Information Top
Gene Symbol:CD320 ( 8D6,8D6A,TCBLR )
Gene Full Name: CD320 molecule
Band: 19p13.2
Quick LinksEntrez ID:51293; OMIM: 606475; Uniprot ID:CD320_HUMAN; ENSEMBL ID: ENSG00000167775; HGNC ID: 16692
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N-linked (GlcNAc...) (Potential).
195N-linked (GlcNAc...) (Potential).
213N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
126N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
195N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
213N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
36O-linkedHMM predict
36Phosphoserine(IKK)HMM predict
39Phosphoserine(IKK)HMM predict
39O-linkedHMM predict
40Phosphothreonine(MAPK)HMM predict
40O-linkedHMM predict
43O-linkedHMM predict
50O-linkedHMM predict
51O-linkedHMM predict
51O-linkedHMM predict
53Phosphoserine(IKK)HMM predict
81Phosphoserine(ATM)HMM predict
84Phosphoserine(CK2)HMM predict
126N-linkedHMM predict
186Phosphothreonine(PKC)HMM predict
195N-linkedHMM predict
204Phosphothreonine(PKC)HMM predict
213N-linkedHMM predict
217O-linkedHMM predict
223Phosphoserine(IKK)HMM predict
225Phosphoserine(CDC2)HMM predict
229Phosphotyrosine(INSR)HMM predict
229Phosphotyrosine(SRC)HMM predict
241O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016579
  • Location:chr19 8273010-8279238
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
HIF1 NormHepG2 8278889 8279590 701 1
TFAP2C MCF7GSE21234 8279116 8279669 553 154
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 8262257 8262729 472 10518
Oct1 HelaGSE14283 8266213 8266240 27 6784
hScc1 BcellGSE12603 8262257 8262729 472 10518
hScc1 CdLSGSE12603 8262257 8262729 472 10518
hScc1 G2GSE9613 8262257 8262729 472 10518
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 8278196 8278649 453 0
H3ac HepG2E 8278196 8278853 657 0
HIF1 HypoHepG2 8278721 8279454 733 0
P300 T30-glioblastomaGSE21026 8278686 8279687 1001 0
PHF8 HeLaGSE20725 8278035 8279373 1338 0
TFAP2C MCF7GSE21234 8273095 8273626 531 0
hScc1 BcellGSE12603 8278986 8279194 208 0
p130 shRbSenescentGSE19898 8278643 8279496 853 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