AutismKB 2.0

Annotation Detail for GIGYF1


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Basic Information Top
Gene Symbol:GIGYF1 ( GYF1,PERQ1 )
Gene Full Name: GRB10 interacting GYF protein 1
Band: 7q22.1
Quick LinksEntrez ID:64599; OMIM: 612064; Uniprot ID:PERQ1_HUMAN; ENSEMBL ID: ENSG00000146830; HGNC ID: 9126
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
638Phosphoserine.
Location(AA) Modifications Resource
638Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
21Phosphoserine(IKK)HMM predict
21O-linkedHMM predict
24Phosphoserine(MAPK)HMM predict
24O-linkedHMM predict
28O-linkedHMM predict
28Phosphoserine(CDC2)HMM predict
91Phosphoserine(CK1)HMM predict
115O-linkedHMM predict
116MethylarginineHMM predict
120O-linkedHMM predict
121Phosphothreonine(PKC)HMM predict
124MethylarginineHMM predict
148Phosphoserine(CDC2)HMM predict
155Phosphoserine(ATM)HMM predict
157Phosphoserine(PKB)HMM predict
193Phosphoserine(CK1)HMM predict
193Phosphoserine(CK2)HMM predict
230Phosphoserine(CDC2)HMM predict
341Phosphoserine(CK2)HMM predict
341Phosphoserine(CK1)HMM predict
357Phosphothreonine(MAPK)HMM predict
366O-linkedHMM predict
367Phosphoserine(CK1)HMM predict
367O-linkedHMM predict
368Phosphoserine(CDC2)HMM predict
368PhosphoserineHMM predict
370O-linkedHMM predict
370Phosphoserine(CDC2)HMM predict
370Phosphoserine(ATM)HMM predict
370Phosphoserine(IKK)HMM predict
411Phosphoserine(CDC2)HMM predict
411O-linkedHMM predict
412O-linkedHMM predict
442Phosphoserine(CK2)HMM predict
461Phosphoserine(PKA)HMM predict
595Phosphothreonine(MAPK)HMM predict
638Phosphoserine(ATM)HMM predict
638PhosphoserineHMM predict
638Phosphoserine(CK1)HMM predict
638Phosphoserine(IKK)HMM predict
654Phosphoserine(ATM)HMM predict
654Phosphoserine(CK1)HMM predict
668N-linkedHMM predict
755O-linkedHMM predict
756Phosphoserine(IKK)HMM predict
844Phosphothreonine(CDC2)HMM predict
865Phosphoserine(IKK)HMM predict
867Phosphoserine(ATM)HMM predict
870Phosphotyrosine(Jak)HMM predict
871Phosphoserine(CK1)HMM predict
1013Phosphoserine(ATM)HMM predict
1016Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022574
  • Location:chr7 100115065-100124805
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 100127237 100127478 241 2552
CTCF CD4SISSRdata 100127237 100127478 241 2552
CTCF G2GSE9613 100124305 100125354 1049 24
CTCF G2GSE9613 100126361 100126852 491 1801
CTCF G2GSE9613 100127280 100127882 602 2776
CTCF G2GSE9613 100128157 100129545 1388 4046
CTCF G2GSE9613 100129959 100130155 196 5252
H3K4me3 colorectalcancer 100128157 100128808 651 3677
H3ac HepG2E 100127497 100129051 1554 3469
NFkBII GM12878GSE19485 100130849 100131969 1120 6604
Rb QuiescentGSE19898 100127272 100127794 522 2728
USF1 HepG2E 100127420 100128982 1562 3396
USF1 HepG2E 100131292 100131749 457 6715
hScc1 BcellGSE12603 100127118 100127497 379 2502
hScc1 G2GSE9613 100125147 100125354 207 445
hScc1 G2GSE9613 100128946 100129545 599 4440
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100114967 100115128 161 18
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 100116481 100116662 181 0
CTCF G2GSE9613 100117309 100117765 456 0
CTCF G2GSE9613 100118057 100120483 2426 0
CTCF G2GSE9613 100121928 100122423 495 0
CTCF G2GSE9613 100122857 100123740 883 0
Oct1 HelaGSE14283 100122831 100122868 37 0
TFAP2C MCF7GSE21234 100115462 100116176 714 0
TFAP2C MCF7GSE21234 100117706 100118334 628 0
hScc1 BcellGSE12603 100118430 100119052 622 0
hScc1 BcellGSE12603 100121771 100122092 321 0
hScc1 G2GSE9613 100118206 100118911 705 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