AutismKB 2.0

Annotation Detail for CLN8


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Basic Information Top
Gene Symbol:CLN8 ( C8orf61,EPMR,FLJ39417 )
Gene Full Name: ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
Band: 8p23.3
Quick LinksEntrez ID:2055; OMIM: 607837; Uniprot ID:CLN8_HUMAN; ENSEMBL ID: ENSG00000182372; HGNC ID: 2079
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
286ER-retrieval signal.
Location(AA) Modifications Resource
Location(AA) Modification Resource
50N-linkedHMM predict
254Phosphothreonine(PKA)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018941
  • Location:chr8 1699347-1719856
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1681338 1681535 197 17911
CTCF CD4SISSRdata 1681338 1681535 197 17911
CTCF G2GSE9613 1698721 1698933 212 521
ER MCF7GSE19013 1692467 1693077 610 6576
FOXA1 DLD1GSE12801 1680809 1681529 720 18179
FOXA1 MCF7GSE15244 1679731 1680099 368 19433
FOXA1 MCF7GSE15244 1680574 1681913 1339 18104
FOXA1 MCF7GSE15244 1695638 1696088 450 3485
H3K4me3 colorectalcancer 1698721 1698933 212 521
H3ac HepG2E 1698372 1698654 282 835
P300 T30-glioblastomaGSE21026 1690921 1691881 960 7947
PHF8 HeLaGSE20725 1698357 1699001 644 669
RARA MCF7GSE15244 1680574 1682271 1697 17925
RARG MCF7GSE15244 1680574 1681913 1339 18104
RARG MCF7GSE15244 1695884 1696088 204 3362
Rb SenescentGSE19898 1691338 1691561 223 7898
TAF HelaGSE8489 1685905 1686340 435 13225
hScc1 BcellGSE12603 1681246 1681685 439 17882
hScc1 BcellGSE12603 1698768 1698933 165 497
hScc1 CdLSGSE12603 1681317 1681722 405 17828
hScc1 CdLSGSE12603 1698687 1698933 246 538
hScc1 G2GSE9613 1698687 1698933 246 538
p130 SenescentGSE19898 1690946 1691782 836 7984
p130 shRbQuiescentGSE19898 1690754 1691649 895 8146
p130 shRbSenescentGSE19898 1690921 1691615 694 8080
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1716925 1717077 152 0
CTCF CD4SISSRdata 1716925 1717077 152 0
CTCF HelaGSE12889 1716916 1717105 189 0
CTCF G2GSE9613 1699358 1700289 931 0
CTCF G2GSE9613 1719046 1719252 206 0
FOXA1 MCF7GSE15244 1700034 1700429 395 0
FOXA1 MCF7GSE15244 1708754 1709192 438 0
H3ac HepG2E 1700103 1700836 733 0
RARA MCF7GSE15244 1700103 1700394 291 0
RARG MCF7GSE15244 1700137 1700366 229 0
TFAP2C MCF7GSE21234 1699920 1700382 462 0
TFAP2C MCF7GSE21234 1712337 1712739 402 0
TFAP2C MCF7GSE21234 1713626 1713900 274 0
USF1 HepG2E 1699997 1700872 875 0
hScc1 BcellGSE12603 1699680 1699997 317 0
hScc1 CdLSGSE12603 1708718 1708927 209 0
hScc1 CdLSGSE12603 1716964 1717198 234 0
hScc1 G2GSE9613 1699358 1700289 931 0
p130 shRbSenescentGSE19898 1699305 1699526 221 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