AutismKB 2.0

Annotation Detail for BFAR


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Basic Information Top
Gene Symbol:BFAR ( BAR,RNF47 )
Gene Full Name: bifunctional apoptosis regulator
Band: 16p13.12
Quick LinksEntrez ID:51283; OMIM: NA; Uniprot ID:BFAR_HUMAN; ENSEMBL ID: ENSG00000103429; HGNC ID: 17613
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
232N-linked (GlcNAc...) (Potential).
376Phosphoserine.
Location(AA) Modifications Resource
232N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
37S-palmitoylHMM predict
43N-linkedHMM predict
48N-linkedHMM predict
57S-palmitoylHMM predict
169Phosphoserine(CK1)HMM predict
224Phosphoserine(CK1)HMM predict
232N-linkedHMM predict
278Phosphoserine(CDC2)HMM predict
309Phosphoserine(CK2)HMM predict
310Phosphoserine(CK1)HMM predict
310Phosphoserine(CK2)HMM predict
310Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016561
  • Location:chr16 14634296-14670192
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 14633590 14634902 1312 51
NFkBII GM15510GSE19485 14633489 14634945 1456 80
Pol2 GM12878GSE19551 14633431 14634613 1182 275
TFAP2C MCF7GSE21234 14633954 14634443 489 98
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 14634409 14634846 437 0
FoxA1 MCF7MACSdata 14657823 14658181 358 0
H3ac HepG2E 14636201 14636382 181 0
Myc K562GSE19551 14659463 14659939 476 0
Rb GrowingGSE19898 14635407 14635525 118 0
TAF HelaGSE8489 14633884 14634846 962 0
TAF HelaGSE8489 14635351 14635669 318 0
USF1 HepG2E 14635351 14635861 510 0
p63 keratinocytesGSE17611 14651742 14652586 844 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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