AutismKB 2.0

Annotation Detail for BAZ1A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BAZ1A ( ACF1,DKFZp586E0518,FLJ14383,WALp1,WCRF180,hACF1 )
Gene Full Name: bromodomain adjacent to zinc finger domain, 1A
Band: 14q13.1-q13.2
Quick LinksEntrez ID:11177; OMIM: 605680; Uniprot ID:BAZ1A_HUMAN; ENSEMBL ID: ENSG00000198604; HGNC ID: 960
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
270Phosphoserine.
606Phosphotyrosine.
702Phosphoserine.
731Phosphothreonine.
1279Phosphoserine.
1281Phosphoserine.
1339Phosphoserine.
1353Phosphoserine.
1363Phosphoserine.
1367Phosphothreonine.
1371Phosphoserine.
1402Phosphoserine.
1413Phosphoserine.
1417Phosphoserine.
1547Phosphothreonine.
Location(AA) Modifications Resource
1413Phosphoserine.Swiss-Prot 53.0
1417Phosphoserine.Swiss-Prot 53.0
1417PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
116Phosphotyrosine(Jak)HMM predict
164Phosphoserine(CK2)HMM predict
169Phosphoserine(CK1)HMM predict
197Phosphothreonine(PKC)HMM predict
258SulfotyrosineHMM predict
270Phosphoserine(CDC2)HMM predict
286Phosphoserine(ATM)HMM predict
296Phosphothreonine(PKC)HMM predict
464N-linkedHMM predict
565O-linkedHMM predict
606Phosphotyrosine(SRC)HMM predict
609Phosphothreonine(MAPK)HMM predict
626Phosphothreonine(PKC)HMM predict
696N-linkedHMM predict
702Phosphoserine(CK2)HMM predict
830Phosphoserine(CK1)HMM predict
843Phosphoserine(IKK)HMM predict
856O-linkedHMM predict
865Phosphoserine(CK1)HMM predict
869Phosphoserine(CK1)HMM predict
879Phosphoserine(IKK)HMM predict
964Phosphotyrosine(INSR)HMM predict
964Phosphotyrosine(Syk)HMM predict
991Phosphotyrosine(EGFR)HMM predict
1015Phosphotyrosine(INSR)HMM predict
1059Phosphothreonine(MAPK)HMM predict
1061O-linkedHMM predict
1061O-linkedHMM predict
1062O-linkedHMM predict
1064Phosphoserine(IKK)HMM predict
1064O-linkedHMM predict
1065O-linkedHMM predict
1066N-linkedHMM predict
1068O-linkedHMM predict
1068O-linkedHMM predict
1069Phosphothreonine(MAPK)HMM predict
1069PhosphothreonineHMM predict
1072Phosphoserine(IKK)HMM predict
1075Phosphoserine(CK1)HMM predict
1125Phosphoserine(CK1)HMM predict
1184Phosphothreonine(PKC)HMM predict
1195S-palmitoylHMM predict
1205Phosphoserine(PKA)HMM predict
1214Phosphoserine(CK1)HMM predict
1243Phosphotyrosine(Syk)HMM predict
1243Phosphotyrosine(INSR)HMM predict
1243Phosphotyrosine(SRC)HMM predict
1243SulfotyrosineHMM predict
1252Phosphoserine(ATM)HMM predict
1252Phosphoserine(CK1)HMM predict
1283Phosphoserine(CK1)HMM predict
1298Phosphoserine(ATM)HMM predict
1301Phosphoserine(IKK)HMM predict
1302Phosphothreonine(MAPK)HMM predict
1302O-linkedHMM predict
1306Phosphothreonine(PKC)HMM predict
1306O-linkedHMM predict
1306O-linkedHMM predict
1311Phosphothreonine(PKC)HMM predict
1353Phosphoserine(MAPK)HMM predict
1353Phosphoserine(CDC2)HMM predict
1363Phosphoserine(PKG)HMM predict
1365N-linkedHMM predict
1366N-linkedHMM predict
1367Phosphothreonine(MAPK)HMM predict
1367Phosphothreonine(CDC2)HMM predict
1370N-linkedHMM predict
1384PhosphoserineHMM predict
1413Phosphoserine(CDC2)HMM predict
1413Phosphoserine(CDK)HMM predict
1413Phosphoserine(PKA)HMM predict
1420Phosphothreonine(CDK)HMM predict
1426Phosphoserine(PKB)HMM predict
1426Phosphoserine(PKC)HMM predict
1428MethylarginineHMM predict
1513Phosphothreonine(PKC)HMM predict
1547Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013448
  • Location:chr14 34291689-34414603
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 34428551 34428592 41 13968
Oct1 HelaGSE14283 34428556 34428594 38 13972
TAF k562GSE8489 34416865 34417528 663 2593
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
RARG MCF7GSE15244 34279246 34279837 591 12148
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 34375338 34375545 207 0
CTCF G2GSE9613 34412551 34414065 1514 0
H3K4me3 colorectalcancer 34411776 34412492 716 0
H3ac HepG2E 34355854 34356115 261 0
H3ac HepG2E 34410071 34410509 438 0
H3ac HepG2E 34410836 34411239 403 0
H3ac HepG2E 34411596 34412920 1324 0
NFkBII GM10847GSE19485 34411876 34415109 3233 0
NFkBII GM12892GSE19485 34411740 34414986 3246 0
Oct1 HelaGSE14283 34398001 34398039 38 0
PHF8 293TGSE20725 34413354 34414658 1304 0
PHF8 HeLaGSE20725 34412451 34414595 2144 0
PHF8 Hs68plusFBSGSE20725 34412289 34414618 2329 0
RNAII Tamoxifen-MCF7GSE14664 34322386 34322486 100 0
RNAII Tamoxifen-MCF7GSE14664 34330539 34330627 88 0
USF2 HepG2E 34412197 34412741 544 0
hScc1 BcellGSE12603 34412269 34414235 1966 0
hScc1 CdLSGSE12603 34412530 34414102 1572 0
p63 keratinocytesGSE17611 34381833 34382975 1142 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
674 Unknown MicroArray miR-373 BAZ1A n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000198604 n_a n_a n_a "epithelium, squamous cell, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, sarcoma"
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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