AutismKB 2.0

Annotation Detail for UPF3B


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Basic Information Top
Gene Symbol:UPF3B ( HUPF3B,MRXS14,RENT3B,UPF3X )
Gene Full Name: UPF3 regulator of nonsense transcripts homolog B (yeast)
Band: Xq24
Quick LinksEntrez ID:65109; OMIM: 300298; Uniprot ID:REN3B_HUMAN; ENSEMBL ID: ENSG00000125351; HGNC ID: 20439
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
169Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
15Phosphothreonine(PKA)HMM predict
25O-linkedHMM predict
34Phosphoserine(CK2)HMM predict
79Phosphotyrosine(Syk)HMM predict
85N-linkedHMM predict
127Phosphotyrosine(EGFR)HMM predict
144Phosphothreonine(PKC)HMM predict
149Phosphothreonine(PKA)HMM predict
160Phosphotyrosine(EGFR)HMM predict
310Phosphoserine(CK1)HMM predict
315Phosphoserine(CK2)HMM predict
318Phosphoserine(IKK)HMM predict
352SulfotyrosineHMM predict
399Phosphothreonine(PKC)HMM predict
409Phosphoserine(CK2)HMM predict
412Phosphoserine(CK1)HMM predict
412Phosphoserine(IKK)HMM predict
419PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_023010
  • Location:chrX 118852016-118870995
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 118870863 118871484 621 178
P300 T30-glioblastomaGSE21026 118870637 118871726 1089 186
Rb SenescentGSE19898 118870822 118871308 486 70
Rb shRbSenescenceGSE19898 118870976 118871204 228 95
p130 QuiescentGSE19898 118871029 118871243 214 141
p130 shRbQuiescentGSE19898 118870820 118871210 390 20
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 118832774 118832808 34 19226
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 118870788 118871118 330 0
ETS1 JurkatGSE17954 118870521 118871468 947 0
H3K4me3 colorectalcancer 118870022 118870503 481 0
H3ac HepG2E 118869826 118870930 1104 0
PHF8 HeLaGSE20725 118870373 118871353 980 0
PolII HeLaGSE12783 118869962 118871573 1611 0
hScc1 BcellGSE12603 118870710 118871259 549 0
hScc1 G2GSE9613 118870710 118871073 363 0
p130 SenescentGSE19898 118870440 118871295 855 0
p130 shRbSenescentGSE19898 118870666 118871297 631 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