AutismKB 2.0

Annotation Detail for CLN3


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Basic Information Top
Gene Symbol:CLN3 ( BTS,JNCL,MGC102840 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 3
Band: 16p12.1
Quick LinksEntrez ID:1201; OMIM: 607042; Uniprot ID:CLN3_HUMAN; ENSEMBL ID: ENSG00000188603; HGNC ID: 2074
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
12Phosphoserine.
14Phosphoserine.
71N-linked (GlcNAc...) (Potential).
85N-linked (GlcNAc...) (Potential).
310N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
12Phosphoserine.Swiss-Prot 53.0
12PhosphoserinePhospho.ELM 6.0
14Phosphoserine.Swiss-Prot 53.0
14PhosphoserinePhospho.ELM 6.0
71N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
85N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
310N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12Phosphoserine(PKA)HMM predict
12Phosphoserine(PKG)HMM predict
12Phosphoserine(PKB)HMM predict
14Phosphoserine(CK2)HMM predict
68Phosphothreonine(PKA)HMM predict
71N-linkedHMM predict
80Phosphothreonine(MAPK)HMM predict
80Phosphothreonine(CDC2)HMM predict
85N-linkedHMM predict
125Phosphoserine(MAPK)HMM predict
151Phosphoserine(IKK)HMM predict
208Phosphoserine(ATM)HMM predict
233Phosphoserine(MAPK)HMM predict
261Phosphoserine(IKK)HMM predict
265Phosphoserine(IKK)HMM predict
340S-palmitoylHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000086
  • Location:chr16 28396101-28410903
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28410284 28410430 146 0
CTCF CD4SISSRdata 28410284 28410430 146 0
HIF1 NormHepG2 28410490 28411284 794 0
Myc K562GSE19551 28410108 28411392 1284 0
NFkBII GM12878GSE19485 28407113 28408119 1006 0
P300 T30-glioblastomaGSE21026 28409780 28411655 1875 0
TFAP2C MCF7GSE21234 28409837 28410553 716 0
USF1 HepG2E 28410151 28411427 1276 0
USF2 HepG2E 28410151 28411427 1276 0
hScc1 CdLSGSE12603 28410151 28410809 658 0
p130 shRbQuiescentGSE19898 28410306 28411302 996 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