AutismKB 2.0

Annotation Detail for ZNF248


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Basic Information Top
Gene Symbol:ZNF248 ( KIAA0137,MGC131882,bA162G10.3 )
Gene Full Name: zinc finger protein 248
Band: 10p11.21
Quick LinksEntrez ID:57209; OMIM: NA; Uniprot ID:ZN248_HUMAN; ENSEMBL ID: ENSG00000198105; HGNC ID: 13041
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
142Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
108N-linkedHMM predict
206Phosphoserine(ATM)HMM predict
258N-linkedHMM predict
260Phosphoserine(ATM)HMM predict
275S-palmitoylHMM predict
292Phosphothreonine(PKC)HMM predict
302Phosphotyrosine(Syk)HMM predict
357N-linkedHMM predict
360N-linkedHMM predict
394N-linkedHMM predict
408Phosphotyrosine(EGFR)HMM predict
408Phosphotyrosine(SRC)HMM predict
408Phosphotyrosine(Syk)HMM predict
450N-linkedHMM predict
464Phosphotyrosine(INSR)HMM predict
497S-palmitoylHMM predict
548Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021045
  • Location:chr10 38157904-38186491
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 38187337 38187766 429 1060
HIF1 HypoHepG2 38186337 38186829 492 92
PHF8 HeLaGSE20725 38185858 38187305 1447 90
PolII HeLaGSE12783 38185696 38187773 2077 243
TAF HelaGSE8489 38187485 38187766 281 1134
TAF k562GSE8489 38187301 38187766 465 1042
TFAP2C MCF7GSE21234 38186359 38186846 487 111
hScc1 CdLSGSE12603 38186504 38187268 764 395
p130 SenescentGSE19898 38186138 38186856 718 6
p130 shRbSenescentGSE19898 38186405 38187265 860 344
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 38184239 38185281 1042 0
H3ac HepG2E 38185519 38186672 1153 0
RARG MCF7GSE15244 38185900 38186232 332 0
hScc1 BcellGSE12603 38185900 38186729 829 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