AutismKB 2.0

Annotation Detail for UPB1


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Basic Information Top
Gene Symbol:UPB1 ( BUP1 )
Gene Full Name: ureidopropionase, beta
Band: 22q11.23
Quick LinksEntrez ID:51733; OMIM: 606673; Uniprot ID:BUP1_HUMAN; ENSEMBL ID: ENSG00000100024; HGNC ID: 16297
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
171Phosphoserine(CK1)HMM predict
171Phosphoserine(CK2)HMM predict
211PhosphotyrosineHMM predict
211Phosphotyrosine(INSR)HMM predict
255N-linkedHMM predict
291Phosphothreonine(PKC)HMM predict
327Phosphothreonine(MAPK)HMM predict
327Phosphothreonine(CDK)HMM predict
375O-linkedHMM predict
376N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016327
  • Location:chr22 23221250-23252551
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23211696 23211811 115 9497
CTCF CD4SISSRdata 23211696 23211811 115 9497
H3K27me3 colorectalcancer 23218053 23218623 570 2913
KLF4 hESGSE17917 23209898 23210281 383 11161
hScc1 BcellGSE12603 23220323 23220939 616 620
p130 shRbQuiescentGSE19898 23212292 23212789 497 8710
p130 shRbSenescentGSE19898 23220893 23221194 301 207
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 23257708 23258679 971 5642
TFAP2C MCF7GSE21234 23257976 23258579 603 5726
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23229182 23229464 282 0
CTCF CD4GSE12889 23251389 23251809 420 0
CTCF CD4SISSRdata 23229182 23229464 282 0
CTCF CD4SISSRdata 23251389 23251809 420 0
CTCF HelaGSE12889 23229069 23229379 310 0
CTCF G2GSE9613 23247619 23248205 586 0
CTCF G2GSE9613 23251423 23252092 669 0
FOXA1 MCF7GSE15244 23232589 23233461 872 0
Fos K562GSE19551 23251228 23251742 514 0
FoxA1 MCF7MACSdata 23232892 23233243 351 0
H3ac HepG2E 23226665 23227172 507 0
Myc K562GSE19551 23251427 23251670 243 0
NFkBII GM12878GSE19485 23232123 23234404 2281 0
NFkBII GM12878GSE19485 23240154 23241576 1422 0
NFkBII GM12878GSE19485 23241842 23243043 1201 0
NFkBII GM12892GSE19485 23241773 23242879 1106 0
NFkBII GM18526GSE19485 23232216 23233509 1293 0
Nanog hESGSE18292 23247654 23248047 393 0
P300 T30-glioblastomaGSE21026 23232706 23233437 731 0
P300 T30-glioblastomaGSE21026 23242170 23242732 562 0
RARA MCF7GSE15244 23250757 23252092 1335 0
RARG MCF7GSE15244 23251387 23252092 705 0
TFAP2C MCF7GSE21234 23232799 23233379 580 0
USF2 HepG2E 23232589 23233177 588 0
hScc1 BcellGSE12603 23221771 23222042 271 0
hScc1 BcellGSE12603 23247483 23248205 722 0
hScc1 BcellGSE12603 23251387 23251816 429 0
hScc1 CdLSGSE12603 23247584 23248238 654 0
hScc1 CdLSGSE12603 23251387 23251847 460 0
hScc1 G2GSE9613 23251387 23251847 460 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