AutismKB 2.0

Annotation Detail for BPHL


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Basic Information Top
Gene Symbol:BPHL ( BPH-RP,MCNAA,MGC125930,MGC41865,VACVASE )
Gene Full Name: biphenyl hydrolase-like (serine hydrolase)
Band: 6p25.2
Quick LinksEntrez ID:670; OMIM: 603156; Uniprot ID:BPHL_HUMAN; ENSEMBL ID: ENSG00000137274; HGNC ID: 1094
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
126N6-acetyllysine.
257N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
37O-linkedHMM predict
38O-linkedHMM predict
41O-linkedHMM predict
197SulfotyrosineHMM predict
217MethyllysineHMM predict
273AsparagineHMM predict
278PhenylalanineHMM predict
279PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004332
  • Location:chr6 3064040-3098270
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 3063630 3063903 273 274
PHF8 HeLaGSE20725 3063142 3064412 1270 264
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 3071682 3071908 226 0
CTCF CD4SISSRdata 3071682 3071908 226 0
CTCF G2GSE9613 3064112 3064313 201 0
CTCF G2GSE9613 3075376 3075688 312 0
CTCF G2GSE9613 3076919 3077047 128 0
CTCF G2GSE9613 3089936 3090295 359 0
CTCF G2GSE9613 3096979 3097306 327 0
ER E2-MCF7GSE14664 3072342 3072401 59 0
FoxA1 MCF7MACSdata 3084520 3084711 191 0
H3ac HepG2E 3064469 3065239 770 0
H3ac HepG2E 3065569 3065865 296 0
H3ac HepG2E 3075339 3075585 246 0
Nanog hESGSE18292 3088494 3088855 361 0
P300 T30-glioblastomaGSE21026 3071618 3072031 413 0
USF1 HepG2E 3081150 3083226 2076 0
USF1 HepG2E 3083599 3084207 608 0
USF1 HepG2E 3084621 3086562 1941 0
USF2 HepG2E 3083755 3084207 452 0
USF2 HepG2E 3084621 3086105 1484 0
hScc1 BcellGSE12603 3071514 3071779 265 0
hScc1 CdLSGSE12603 3071275 3071779 504 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