AutismKB 2.0

Annotation Detail for PBRM1


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Basic Information Top
Gene Symbol:PBRM1 ( BAF180,MGC156155,MGC156156,PB1 )
Gene Full Name: polybromo 1
Band: 3p21.1
Quick LinksEntrez ID:55193; OMIM: 606083; Uniprot ID:PB1_HUMAN; ENSEMBL ID: ENSG00000163939; HGNC ID: 30064
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
10Phosphoserine.
39Phosphoserine.
54Phosphotyrosine.
131Phosphoserine.
178Phosphoserine.
301Phosphothreonine.
314Phosphoserine.
316Phosphoserine.
319Phosphoserine.
353Phosphoserine.
355Phosphoserine.
371Phosphoserine.
375Phosphoserine.
498Phosphoserine.
636Phosphoserine.
948Phosphoserine.
1405Phosphoserine.
1453Phosphoserine.
Location(AA) Modifications Resource
39Phosphoserine.Swiss-Prot 53.0
54Phosphotyrosine.Swiss-Prot 53.0
54PhosphotyrosinePhospho.ELM 6.0
636Phosphoserine.Swiss-Prot 53.0
948PhosphoserinePhospho.ELM 6.0
1453Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphothreonine(PKA)HMM predict
9Phosphothreonine(PKC)HMM predict
10Phosphoserine(IKK)HMM predict
10Phosphoserine(CDC2)HMM predict
10Phosphoserine(CAMK2)HMM predict
10Phosphoserine(PKB)HMM predict
10Phosphoserine(PKA)HMM predict
10PhosphoserineHMM predict
14Phosphoserine(CK1)HMM predict
14Phosphoserine(ATM)HMM predict
27O-linkedHMM predict
32Phosphoserine(PKC)HMM predict
39PhosphoserineHMM predict
39Phosphoserine(PKG)HMM predict
84SulfotyrosineHMM predict
85Phosphotyrosine(Syk)HMM predict
106Phosphotyrosine(Syk)HMM predict
127Phosphotyrosine(Syk)HMM predict
198N-linkedHMM predict
205Phosphoserine(CAMK2)HMM predict
239N-linkedHMM predict
262Phosphotyrosine(Abl)HMM predict
325N-linkedHMM predict
343Phosphoserine(PKG)HMM predict
353Phosphoserine(CK2)HMM predict
355PhosphoserineHMM predict
421Phosphotyrosine(Syk)HMM predict
442Phosphotyrosine(INSR)HMM predict
442Phosphotyrosine(Syk)HMM predict
444Phosphothreonine(PKC)HMM predict
505Phosphoserine(CK2)HMM predict
505Phosphoserine(CK1)HMM predict
507O-linkedHMM predict
509Phosphoserine(PKC)HMM predict
608Phosphotyrosine(Syk)HMM predict
636Phosphoserine(MAPK)HMM predict
648Phosphoserine(CDC2)HMM predict
652Phosphoserine(PKA)HMM predict
654Phosphotyrosine(INSR)HMM predict
666Phosphotyrosine(Syk)HMM predict
666Phosphotyrosine(SRC)HMM predict
671N-linkedHMM predict
681Phosphoserine(PKG)HMM predict
689PhosphoserineHMM predict
696SulfotyrosineHMM predict
697Phosphotyrosine(Syk)HMM predict
699Phosphothreonine(PKC)HMM predict
773N-linkedHMM predict
855N-linkedHMM predict
862Phosphotyrosine(Syk)HMM predict
862Phosphotyrosine(EGFR)HMM predict
862Phosphotyrosine(INSR)HMM predict
931Phosphoserine(IKK)HMM predict
934Phosphoserine(CK1)HMM predict
1002N-linkedHMM predict
1023Phosphotyrosine(Syk)HMM predict
1023Phosphotyrosine(EGFR)HMM predict
1119Phosphoserine(CK2)HMM predict
1139Phosphoserine(IKK)HMM predict
1289Phosphotyrosine(Syk)HMM predict
1347Phosphothreonine(MAPK)HMM predict
1359PhosphothreonineHMM predict
1363O-linkedHMM predict
1364Phosphothreonine(CDK)HMM predict
1364O-linkedHMM predict
1371Phosphoserine(PKG)HMM predict
1404SulfotyrosineHMM predict
1453O-linkedHMM predict
1453Phosphoserine(CDC2)HMM predict
1453Phosphoserine(MAPK)HMM predict
1458PhosphothreonineHMM predict
1458Phosphothreonine(CDK)HMM predict
1471Phosphothreonine(MAPK)HMM predict
1555Phosphoserine(CDC2)HMM predict
1557Phosphotyrosine(Abl)HMM predict
1623Phosphoserine(CK1)HMM predict
1673MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018165
  • Location:chr3 52554423-52688769
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 52679366 52680816 1450 0
Fos K562GSE19551 52679776 52680353 577 0
Oct1 H2O2-HelaGSE14283 52644620 52644647 27 0
Oct1 HelaGSE14283 52631937 52631968 31 0
P300 T30-glioblastomaGSE21026 52679256 52680730 1474 0
hScc1 BcellGSE12603 52679577 52679742 165 0
p130 QuiescentGSE19898 52679754 52680019 265 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-323-3p hsa-mir-323 14 20554777
hsa-miR-323-5p hsa-mir-323 14 20554777
hsa-miR-491-3p hsa-mir-491 9 20554777
hsa-miR-491-5p hsa-mir-491 9 20554777
hsa-miR-654-3p hsa-mir-654 14 20554777
hsa-miR-654-5p hsa-mir-654 14 20554777
No data
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