AutismKB 2.0

Annotation Detail for LLGL1


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Basic Information Top
Gene Symbol:LLGL1 ( DLG4,HUGL,HUGL-1,HUGL1,LLGL )
Gene Full Name: lethal giant larvae homolog 1 (Drosophila)
Band: 17p11.2
Quick LinksEntrez ID:3996; OMIM: 600966; Uniprot ID:L2GL1_HUMAN; ENSEMBL ID: ENSG00000131899; HGNC ID: 6628
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
509Phosphotyrosine.
663Phosphoserine.
704Phosphothreonine.
958Phosphothreonine (By similarity).
967Phosphoserine (By similarity).
Location(AA) Modifications Resource
664Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
26N-linkedHMM predict
98Phosphoserine(CK1)HMM predict
140Phosphothreonine(PKA)HMM predict
250O-linkedHMM predict
251Phosphoserine(PKB)HMM predict
258Phosphoserine(CK1)HMM predict
278O-linkedHMM predict
278O-linkedHMM predict
404O-linkedHMM predict
426O-linkedHMM predict
426Phosphoserine(IKK)HMM predict
430Phosphoserine(IKK)HMM predict
631Phosphoserine(CDK)HMM predict
684Phosphoserine(CK1)HMM predict
705Phosphothreonine(CDC2)HMM predict
705Phosphothreonine(CDK)HMM predict
719Phosphoserine(IKK)HMM predict
837Phosphothreonine(PKC)HMM predict
929Phosphoserine(MAPK)HMM predict
942N-linkedHMM predict
972Phosphoserine(ATM)HMM predict
972Phosphoserine(PKG)HMM predict
975N-linkedHMM predict
986Phosphoserine(IKK)HMM predict
990Phosphoserine(ATM)HMM predict
1001Phosphothreonine(MAPK)HMM predict
1001Phosphothreonine(CDC2)HMM predict
1022O-linkedHMM predict
1023O-linkedHMM predict
1026O-linkedHMM predict
1045Phosphoserine(CK1)HMM predict
1061S-farnesylHMM predict
1061CysteineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004140
  • Location:chr17 18069660-18088910
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 18068812 18069876 1064 317
Fos K562GSE19551 18069230 18069788 558 152
p130 QuiescentGSE19898 18069155 18069431 276 368
p130 SenescentGSE19898 18068634 18069070 436 809
p130 shRbQuiescentGSE19898 18068313 18069091 778 959
p130 shRbSenescentGSE19898 18068535 18069437 902 675
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 18079461 18080456 995 0
CTCF G2GSE9613 18074008 18074635 627 0
CTCF G2GSE9613 18081513 18081791 278 0
CTCF G2GSE9613 18084179 18084987 808 0
Oct1 H2O2-HelaGSE14283 18073321 18073365 44 0
Oct1 HelaGSE14283 18073321 18073364 43 0
P300 T30-glioblastomaGSE21026 18079423 18080450 1027 0
PHF8 HeLaGSE20725 18068989 18070477 1488 0
TFAP2C MCF7GSE21234 18079659 18080553 894 0
hScc1 BcellGSE12603 18069755 18070116 361 0
p130 shRbQuiescentGSE19898 18087586 18088180 594 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