AutismKB 2.0

Annotation Detail for GCN1L1


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Basic Information Top
Gene Symbol:GCN1L1 ( GCN1,GCN1L,KIAA0219,PRIC295 )
Gene Full Name: GCN1 general control of amino-acid synthesis 1-like 1 (yeast)
Band: 12q24.2
Quick LinksEntrez ID:10985; OMIM: 605614; Uniprot ID:GCN1L_HUMAN; ENSEMBL ID: ENSG00000089154; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
95Phosphoserine.
96Phosphoserine.
786Phosphoserine.
956Phosphothreonine.
1022Phosphothreonine.
Location(AA) Modifications Resource
2N-acetylalanine.Swiss-Prot 53.0
955PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
5PhosphothreonineHMM predict
106O-linkedHMM predict
109Phosphoserine(CK2)HMM predict
196Phosphotyrosine(Syk)HMM predict
273Phosphoserine(CDC2)HMM predict
293Phosphoserine(ATM)HMM predict
375O-linkedHMM predict
379Phosphoserine(IKK)HMM predict
379Phosphoserine(ATM)HMM predict
418Phosphothreonine(PKA)HMM predict
478Phosphoserine(IKK)HMM predict
478Phosphoserine(CK1)HMM predict
481O-linkedHMM predict
485O-linkedHMM predict
504Phosphoserine(ATM)HMM predict
587Phosphothreonine(PKC)HMM predict
657O-linkedHMM predict
717Phosphoserine(IKK)HMM predict
720N-linkedHMM predict
722O-linkedHMM predict
725N-linkedHMM predict
734Phosphoserine(CDC2)HMM predict
799Phosphotyrosine(SRC)HMM predict
869N-linkedHMM predict
890Phosphoserine(CDC2)HMM predict
996Phosphoserine(CK2)HMM predict
1019Phosphoserine(CDC2)HMM predict
1022Phosphothreonine(CDK)HMM predict
1022Phosphothreonine(MAPK)HMM predict
1065O-linkedHMM predict
1070Phosphoserine(CK2)HMM predict
1184Phosphoserine(ATM)HMM predict
1350Phosphothreonine(MAPK)HMM predict
1350Phosphothreonine(CDK)HMM predict
1352Phosphoserine(ATM)HMM predict
1391Phosphotyrosine(Syk)HMM predict
1474Phosphotyrosine(INSR)HMM predict
1489N-linkedHMM predict
1592Phosphothreonine(PKA)HMM predict
1592Phosphothreonine(PKC)HMM predict
1714Phosphoserine(IKK)HMM predict
1915Phosphothreonine(MAPK)HMM predict
1918Phosphothreonine(PKC)HMM predict
1974Phosphoserine(ATM)HMM predict
2202N-linkedHMM predict
2276Phosphoserine(CDC2)HMM predict
2463Phosphoserine(CK1)HMM predict
2661Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006836
  • Location:chr12 119049398-119116895
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 119116587 119117363 776 80
ETS1 JurkatGSE17954 119116223 119117694 1471 63
GABP HelaGSE8489 119117363 119117655 292 614
GABP k562GSE8489 119117178 119117655 477 521
Myc K562GSE19551 119116449 119117770 1321 214
Myc hESGSE17917 119116881 119117227 346 159
PHF8 HeLaGSE20725 119116377 119117641 1264 114
RARA MCF7GSE15244 119117178 119117655 477 521
RARG MCF7GSE15244 119117249 119117655 406 557
TAFII hESGSE17917 119116722 119117244 522 88
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 119052757 119053701 944 0
CTCF G2GSE9613 119056316 119057061 745 0
CTCF G2GSE9613 119058597 119059443 846 0
CTCF G2GSE9613 119060001 119060305 304 0
CTCF G2GSE9613 119064548 119065080 532 0
CTCF G2GSE9613 119067465 119067643 178 0
CTCF G2GSE9613 119070148 119070629 481 0
CTCF G2GSE9613 119072199 119072471 272 0
CTCF G2GSE9613 119077334 119077958 624 0
CTCF G2GSE9613 119080166 119080881 715 0
CTCF G2GSE9613 119081719 119082078 359 0
CTCF G2GSE9613 119083397 119084437 1040 0
CTCF G2GSE9613 119085144 119085682 538 0
CTCF G2GSE9613 119086372 119086874 502 0
CTCF G2GSE9613 119090434 119090687 253 0
CTCF G2GSE9613 119100915 119101102 187 0
CTCF G2GSE9613 119106212 119106515 303 0
ER MCF7GSE19013 119084272 119084816 544 0
GABP HelaGSE8489 119115874 119116551 677 0
GABP k562GSE8489 119115874 119116774 900 0
H3K4me2 HCT116GSE10453 119115874 119116471 597 0
H3K4me3 colorectalcancer 119115874 119116515 641 0
H3ac HepG2E 119115874 119116551 677 0
NRSF pAbJurkat 119075835 119076248 413 0
Oct1 H2O2-HelaGSE14283 119064538 119064571 33 0
Oct1 HelaGSE14283 119064539 119064570 31 0
Oct1 HelaGSE14283 119116284 119116313 29 0
PHF8 293TGSE20725 119116245 119117454 1209 0
RARA MCF7GSE15244 119058597 119059306 709 0
RARG MCF7GSE15244 119081217 119081404 187 0
TAF HelaGSE8489 119099722 119100992 1270 0
TAF HelaGSE8489 119110108 119110312 204 0
TAF HelaGSE8489 119112442 119112888 446 0
TFAP2C MCF7GSE21234 119058407 119059026 619 0
hScc1 BcellGSE12603 119053341 119053525 184 0
hScc1 BcellGSE12603 119056462 119056847 385 0
hScc1 BcellGSE12603 119081217 119081362 145 0
hScc1 BcellGSE12603 119083583 119084046 463 0
hScc1 BcellGSE12603 119086454 119086899 445 0
hScc1 CdLSGSE12603 119054491 119055799 1308 0
hScc1 CdLSGSE12603 119093666 119094027 361 0
hScc1 CdLSGSE12603 119116471 119117178 707 0
hScc1 G2GSE9613 119080233 119080881 648 0
hScc1 G2GSE9613 119081683 119082114 431 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


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