AutismKB 2.0

Annotation Detail for PFKL


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Basic Information Top
Gene Symbol:PFKL ( DKFZp686G1648,DKFZp686L2097,FLJ30173,FLJ40909,PFK-B )
Gene Full Name: phosphofructokinase, liver
Band: 21q22.3
Quick LinksEntrez ID:5211; OMIM: 171860; Uniprot ID:K6PL_HUMAN; ENSEMBL ID: ENSG00000141959; HGNC ID: 8876
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
633Phosphotyrosine.
640Phosphotyrosine (By similarity).
775Phosphoserine.
Location(AA) Modifications Resource
633Phosphotyrosine.Swiss-Prot 53.0
772Phosphothreonine (PKA
Location(AA) Modification Resource
146Phosphoserine(PKG)HMM predict
195O-linkedHMM predict
214Phosphotyrosine(Jak)HMM predict
331Phosphothreonine(MAPK)HMM predict
337O-linkedHMM predict
464Phosphoserine(IKK)HMM predict
501Phosphotyrosine(Syk)HMM predict
562Phosphothreonine(PKC)HMM predict
578Phosphotyrosine(Jak)HMM predict
634Phosphotyrosine(Jak)HMM predict
668Phosphothreonine(MAPK)HMM predict
720Phosphoserine(CDC2)HMM predict
763SerineHMM predict
773Phosphothreonine(PKA)HMM predict
775Phosphoserine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002626
  • Location:chr21 44544357-44571682
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Rb shRbSenescenceGSE19898 44543876 44544106 230 367
TFAP2C MCF7GSE21234 44543377 44544277 900 531
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44549338 44549512 174 0
CTCF CD4SISSRdata 44549338 44549512 174 0
CTCF JurkatGSE12889 44549357 44549541 184 0
CTCF G2GSE9613 44544178 44544794 616 0
CTCF G2GSE9613 44565885 44566191 306 0
Rb QuiescentGSE19898 44544944 44545127 183 0
TFAP2C MCF7GSE21234 44571287 44571608 321 0
hScc1 BcellGSE12603 44544370 44545019 649 0
hScc1 BcellGSE12603 44549230 44549698 468 0
hScc1 BcellGSE12603 44558081 44558785 704 0
hScc1 BcellGSE12603 44559595 44560253 658 0
hScc1 BcellGSE12603 44560632 44561193 561 0
hScc1 BcellGSE12603 44562355 44562961 606 0
hScc1 BcellGSE12603 44565061 44565396 335 0
hScc1 BcellGSE12603 44567800 44568063 263 0
hScc1 BcellGSE12603 44568547 44569292 745 0
hScc1 BcellGSE12603 44569617 44569875 258 0
hScc1 BcellGSE12603 44571126 44571527 401 0
hScc1 CdLSGSE12603 44544370 44544942 572 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