AutismKB 2.0

Annotation Detail for PFKFB1


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Basic Information Top
Gene Symbol:PFKFB1 ( F6PK,HL2K,MGC116715,MGC116717,PFRX )
Gene Full Name: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
Band: Xp11.21
Quick LinksEntrez ID:5207; OMIM: 311790; Uniprot ID:F261_HUMAN; ENSEMBL ID: ENSG00000158571; HGNC ID: 8872
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
33Phosphoserine; by PKA (By similarity).
Location(AA) Modifications Resource
33Phosphoserine (by PKA) (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
33Phosphoserine(PKA)HMM predict
33Phosphoserine(PKA)HMM predict
33Phosphoserine(PKG)HMM predict
34Phosphoserine(PKA)HMM predict
34Phosphoserine(PKB)HMM predict
41Phosphoserine(CDC2)HMM predict
134N-linkedHMM predict
135Phosphothreonine(PKC)HMM predict
141Phosphoserine(PKA)HMM predict
152Phosphotyrosine(Syk)HMM predict
181Phosphotyrosine(INSR)HMM predict
339Phosphotyrosine(Syk)HMM predict
339Phosphotyrosine(SRC)HMM predict
339Phosphotyrosine(INSR)HMM predict
368Phosphotyrosine(INSR)HMM predict
368Phosphotyrosine(EGFR)HMM predict
414Phosphotyrosine(Jak)HMM predict
438Phosphotyrosine(EGFR)HMM predict
446Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002625
  • Location:chrX 54976314-55037235
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 55037082 55037413 331 12
TFAP2C MCF7GSE21234 55037613 55038403 790 773
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 54978393 54978601 208 0
CTCF G2GSE9613 54993643 54993790 147 0
CTCF G2GSE9613 54994313 54995258 945 0
FoxA1 MCF7MACSdata 55022658 55022856 198 0
Oct1 HelaGSE14283 54988163 54988205 42 0
Oct1 HelaGSE14283 54988425 54988476 51 0
Oct1 HelaGSE14283 55005138 55005215 77 0
hScc1 BcellGSE12603 54978317 54978601 284 0
hScc1 BcellGSE12603 54978930 54979172 242 0
hScc1 G2GSE9613 54978277 54978601 324 0
hScc1 G2GSE9613 54992272 54992538 266 0
hScc1 G2GSE9613 54995109 54995313 204 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