AutismKB 2.0

Annotation Detail for CEP290


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Basic Information Top
Gene Symbol:CEP290 ( 3H11Ag,BBS14,CT87,FLJ13615,FLJ21979,JBTS5,JBTS6,KIAA0373,LCA10,MKS4,NPHP6,POC3,SLSN6,rd16 )
Gene Full Name: centrosomal protein 290kDa
Band: 12q21.32
Quick LinksEntrez ID:80184; OMIM: 610142; Uniprot ID:CE290_HUMAN; ENSEMBL ID: ENSG00000198707; HGNC ID: 29021
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1209Phosphoserine.
1697Phosphoserine.
2395Phosphoserine.
Location(AA) Modifications Resource
1697Phosphoserine.Swiss-Prot 53.0
1697PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
160Phosphoserine(CK1)HMM predict
189Phosphoserine(ATM)HMM predict
204Phosphotyrosine(Syk)HMM predict
204Phosphotyrosine(EGFR)HMM predict
206Phosphoserine(ATM)HMM predict
213Phosphotyrosine(INSR)HMM predict
218SulfotyrosineHMM predict
281SulfotyrosineHMM predict
327SulfotyrosineHMM predict
402Phosphoserine(ATM)HMM predict
451Phosphotyrosine(INSR)HMM predict
456Phosphotyrosine(INSR)HMM predict
456Phosphotyrosine(SRC)HMM predict
544Phosphoserine(CK1)HMM predict
567Phosphoserine(PKG)HMM predict
570Phosphoserine(IKK)HMM predict
578N-linkedHMM predict
582N-linkedHMM predict
584Phosphoserine(ATM)HMM predict
628Phosphothreonine(PKC)HMM predict
722Phosphoserine(PKG)HMM predict
748Phosphoserine(CK1)HMM predict
804Phosphoserine(CK1)HMM predict
923Phosphoserine(MAPK)HMM predict
1036N-linkedHMM predict
1046Phosphoserine(IKK)HMM predict
1046Phosphoserine(PKG)HMM predict
1127O-linkedHMM predict
1226Phosphoserine(CK1)HMM predict
1275Phosphoserine(CAMK2)HMM predict
1307Phosphoserine(PKG)HMM predict
1307Phosphoserine(ATM)HMM predict
1316N-linkedHMM predict
1387Phosphoserine(PKG)HMM predict
1441Phosphoserine(IKK)HMM predict
1446O-linkedHMM predict
1612Phosphothreonine(MAPK)HMM predict
1636Phosphoserine(CK1)HMM predict
1636Phosphoserine(IKK)HMM predict
1638Phosphoserine(CK1)HMM predict
1697Phosphoserine(ATM)HMM predict
1701Phosphoserine(IKK)HMM predict
1716O-linkedHMM predict
1722O-linkedHMM predict
1807Phosphothreonine(PKC)HMM predict
1814Phosphoserine(CK1)HMM predict
1959Phosphothreonine(PKC)HMM predict
2041Phosphotyrosine(INSR)HMM predict
2041Phosphotyrosine(Jak)HMM predict
2041Phosphotyrosine(Syk)HMM predict
2042Phosphoserine(CK1)HMM predict
2290N-linkedHMM predict
2458Phosphoserine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_025114
  • Location:chr12 86966921-87060123
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 87059564 87060781 1217 49
RARA MCF7GSE15244 87059639 87060661 1022 27
p130 shRbQuiescentGSE19898 87059707 87060640 933 50
p130 shRbSenescentGSE19898 87059732 87060542 810 14
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 87059757 87060314 557 0
ER E2-MCF7GSE14664 87042722 87042812 90 0
ER Fulvestrant-MCF7GSE14664 86968253 86968320 67 0
ETS1 JurkatGSE17954 87059223 87060880 1657 0
H3K4me2 HCT116GSE10453 87059279 87059721 442 0
H3ac HepG2E 87059243 87059757 514 0
Oct1 H2O2-HelaGSE14283 87030548 87030580 32 0
Oct1 HelaGSE14283 86976980 86977014 34 0
Oct1 HelaGSE14283 86982973 86983015 42 0
Oct1 HelaGSE14283 87015061 87015092 31 0
Oct1 HelaGSE14283 87030548 87030578 30 0
Oct1 HelaGSE14283 87047145 87047177 32 0
Oct1 HelaGSE14283 87047317 87047348 31 0
P300 T30-glioblastomaGSE21026 87059448 87060654 1206 0
PHF8 HeLaGSE20725 87059381 87060679 1298 0
RARG MCF7GSE15244 87059493 87060744 1251 0
RNAII Tamoxifen-MCF7GSE14664 86968260 86968320 60 0
TFAP2C MCF7GSE21234 87059371 87060580 1209 0
hScc1 BcellGSE12603 87029108 87029352 244 0
hScc1 G2GSE9613 87059677 87060278 601 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
6388 mRNA DKFZp434N2030 chr12 86931735 86946404 398 mRNA Cep290 chr12 86945261 87038461Sense/Antisense (SA) pairs

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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