AutismKB 2.0

Annotation Detail for DGCR14


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Basic Information Top
Gene Symbol:DGCR14 ( DGCR13,DGS-H,DGS-I,DGSH,DGSI,ES2,Es2el )
Gene Full Name: DiGeorge syndrome critical region gene 14
Band: 22q11.21|22q11.2
Quick LinksEntrez ID:8220; OMIM: 601755; Uniprot ID:DGC14_HUMAN; ENSEMBL ID: ENSG00000100056; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
3Phosphothreonine.
292Phosphoserine.
386Phosphothreonine.
391Phosphoserine.
395Phosphoserine.
437Phosphothreonine.
Location(AA) Modifications Resource
292Phosphoserine.Swiss-Prot 53.0
292PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
32Phosphothreonine(PKC)HMM predict
43SulfotyrosineHMM predict
43Phosphotyrosine(INSR)HMM predict
68Phosphotyrosine(Syk)HMM predict
102Phosphotyrosine(Abl)HMM predict
104Phosphothreonine(MAPK)HMM predict
104O-linkedHMM predict
129MethylarginineHMM predict
157Phosphoserine(CAMK2)HMM predict
160N-linkedHMM predict
257Phosphoserine(ATM)HMM predict
305Phosphoserine(CDC2)HMM predict
305Phosphoserine(MAPK)HMM predict
324Phosphothreonine(MAPK)HMM predict
335Phosphotyrosine(SRC)HMM predict
335Phosphotyrosine(Syk)HMM predict
339Phosphothreonine(MAPK)HMM predict
379Phosphothreonine(PKA)HMM predict
419O-linkedHMM predict
419Phosphothreonine(MAPK)HMM predict
421Phosphoserine(CDC2)HMM predict
421Phosphoserine(CDK)HMM predict
426Phosphothreonine(CDK)HMM predict
433O-linkedHMM predict
437Phosphothreonine(CDK)HMM predict
437O-linkedHMM predict
437Phosphothreonine(MAPK)HMM predict
439O-linkedHMM predict
439O-linkedHMM predict
439Phosphothreonine(MAPK)HMM predict
440O-linkedHMM predict
440Phosphoserine(MAPK)HMM predict
441O-linkedHMM predict
441O-linkedHMM predict
446Phosphoserine(IKK)HMM predict
450Phosphothreonine(CDK)HMM predict
450Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022719
  • Location:chr22 17501451-17512161
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 17512150 17512549 399 188
CTCF CD4SISSRdata 17512150 17512549 399 188
CTCF HelaGSE12889 17512263 17512567 304 254
CTCF JurkatGSE12889 17512204 17512550 346 216
CTCF G2GSE9613 17512071 17512548 477 148
ETS1 JurkatGSE17954 17511755 17512672 917 52
H3K27me3 colorectalcancer 17513557 17514076 519 1655
P300 T30-glioblastomaGSE21026 17511617 17512857 1240 76
hScc1 BcellGSE12603 17512002 17512548 546 114
hScc1 CdLSGSE12603 17512110 17512548 438 168
p130 shRbSenescentGSE19898 17511916 17512592 676 93
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 17511385 17512757 1372 0
H3K4me3 colorectalcancer 17511409 17511924 515 0
H3ac HepG2E 17510753 17511047 294 0
H3ac HepG2E 17511409 17512040 631 0
PHF8 293TGSE20725 17511560 17512653 1093 0
PHF8 HeLaGSE20725 17511592 17512333 741 0
hScc1 BcellGSE12603 17502140 17502745 605 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


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