AutismKB 2.0

Annotation Detail for UPK3A


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Basic Information Top
Gene Symbol:UPK3A ( MGC119178,UP3A,UPIII,UPIIIA,UPK3 )
Gene Full Name: uroplakin 3A
Band: 22q13.31
Quick LinksEntrez ID:7380; OMIM: 611559; Uniprot ID:UPK3A_HUMAN; ENSEMBL ID: ENSG00000100373; HGNC ID: 12580
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74N-linked (GlcNAc...) (Potential).
139N-linked (GlcNAc...) (Potential).
170N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
74N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
139N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
170N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
34N-linkedHMM predict
74N-linkedHMM predict
76Phosphoserine(PKB)HMM predict
76Phosphoserine(CAMK2)HMM predict
80Phosphoserine(IKK)HMM predict
83Phosphothreonine(MAPK)HMM predict
139N-linkedHMM predict
192Phosphothreonine(MAPK)HMM predict
196O-linkedHMM predict
258Phosphoserine(IKK)HMM predict
265Phosphoserine(CK1)HMM predict
266Phosphotyrosine(SRC)HMM predict
282Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006953
  • Location:chr22 44059552-44070417
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 44053974 44055176 1202 4978
CTCF CD4GSE12889 44043577 44043936 359 15796
CTCF CD4SISSRdata 44043577 44043936 359 15796
CTCF HelaGSE12889 44043622 44043774 152 15855
CTCF JurkatGSE12889 44043609 44043790 181 15853
CTCF G2GSE9613 44043289 44043769 480 16024
ER MCF7GSE19013 44054051 44054775 724 5140
ER MCF7GSE19013 44055045 44055384 339 4338
H3ac HepG2E 44046099 44046814 715 13096
H3ac HepG2E 44047975 44048749 774 11191
H3ac HepG2E 44052947 44053386 439 6386
P300 T0-glioblastomaGSE21026 44054276 44055001 725 4914
P300 T30-glioblastomaGSE21026 44053551 44055202 1651 5176
RARA MCF7GSE15244 44053727 44054093 366 5643
RARA MCF7GSE15244 44055188 44055448 260 4235
RARG MCF7GSE15244 44047975 44048406 431 11362
RARG MCF7GSE15244 44053727 44054093 366 5643
RARG MCF7GSE15244 44055188 44055448 260 4235
TFAP2C MCF7GSE21234 44059004 44059423 419 339
USF2 HepG2E 44046574 44046814 240 12859
USF2 HepG2E 44047975 44048917 942 11107
hScc1 BcellGSE12603 44042663 44044089 1426 16177
hScc1 BcellGSE12603 44047102 44047379 277 12312
hScc1 BcellGSE12603 44059331 44059718 387 28
hScc1 CdLSGSE12603 44043289 44044356 1067 15730
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T30-glioblastomaGSE21026 44076308 44076966 658 6220
p130 shRbQuiescentGSE19898 44076479 44076922 443 6283
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 44059943 44060247 304 0
VDR GM10855-stimGSE22484 44062034 44063359 1325 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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