AutismKB 2.0

Annotation Detail for PYGL


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Basic Information Top
Gene Symbol:PYGL ( GSD6 )
Gene Full Name: phosphorylase, glycogen, liver
Band: 14q22.1
Quick LinksEntrez ID:5836; OMIM: 232700; Uniprot ID:PYGL_HUMAN; ENSEMBL ID: ENSG00000100504; HGNC ID: 9725
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
15Phosphoserine; by PHK; in form
75Phosphotyrosine.
76Phosphotyrosine.
681N6-(pyridoxal phosphate)lysine (By
Location(AA) Modifications Resource
2N-acetylalanine (By similarity).Swiss-Prot 53.0
14PhosphoserinePhospho.ELM 6.0
15Phosphoserine; by PHK; in formphosphorylase A.Swiss-Prot 53.0
Location(AA) Modification Resource
15Phosphoserine(CAMK2)HMM predict
76Phosphotyrosine(Syk)HMM predict
234Phosphotyrosine(Jak)HMM predict
236N-linkedHMM predict
237N-linkedHMM predict
240N-linkedHMM predict
339N-linkedHMM predict
377N-linkedHMM predict
430Phosphoserine(PKA)HMM predict
430Phosphoserine(PKG)HMM predict
437Phosphoserine(CK1)HMM predict
482N-linkedHMM predict
485N-linkedHMM predict
559N-linkedHMM predict
727Phosphotyrosine(Syk)HMM predict
732Phosphotyrosine(Jak)HMM predict
733Phosphotyrosine(EGFR)HMM predict
733Phosphotyrosine(Syk)HMM predict
752Phosphoserine(CDC2)HMM predict
792Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002863
  • Location:chr14 50441686-50480983
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 50491341 50491624 283 10499
CTCF CD4SISSRdata 50491341 50491624 283 10499
Fos K562GSE19551 50491935 50492610 675 11289
Myc K562GSE19551 50492129 50492561 432 11362
RARA MCF7GSE15244 50490948 50491536 588 10259
RARA MCF7GSE15244 50491841 50492595 754 11235
RARG MCF7GSE15244 50491925 50492485 560 11222
Rb SenescentGSE19898 50481200 50481453 253 343
TFAP2C MCF7GSE21234 50491837 50492698 861 11284
p130 QuiescentGSE19898 50481146 50481288 142 234
p63 keratinocytesGSE17611 50491116 50492522 1406 10836
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 50454017 50454299 282 0
CTCF G2GSE9613 50480647 50481061 414 0
ER MCF7GSE19013 50446950 50447600 650 0
ER MCF7GSE19013 50460638 50461193 555 0
Gata2 K562GSE18868 50463326 50463856 530 0
H3ac HepG2E 50478373 50478659 286 0
H3ac HepG2E 50479348 50479718 370 0
P300 T30-glioblastomaGSE21026 50456878 50457714 836 0
PHF8 HeLaGSE20725 50479813 50481580 1767 0
RARA MCF7GSE15244 50447150 50447681 531 0
RARA MCF7GSE15244 50471525 50472965 1440 0
RARG MCF7GSE15244 50447150 50447607 457 0
RARG MCF7GSE15244 50471857 50472928 1071 0
Rb SenescentGSE19898 50479831 50480115 284 0
TFAP2C MCF7GSE21234 50446962 50447697 735 0
hScc1 BcellGSE12603 50464416 50464692 276 0
p130 shRbSenescentGSE19898 50479949 50480172 223 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