AutismKB 2.0

Annotation Detail for CEP250


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Basic Information Top
Gene Symbol:CEP250 ( C-NAP1,CEP2,CNAP1,MGC88542 )
Gene Full Name: centrosomal protein 250kDa
Band: 20q11.22
Quick LinksEntrez ID:11190; OMIM: 609689; Uniprot ID:CP250_HUMAN; ENSEMBL ID: ENSG00000126001; HGNC ID: 1859
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1048N6-acetyllysine.
2229Phosphoserine.
2259Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
45Phosphoserine(PKG)HMM predict
54Phosphothreonine(PKC)HMM predict
142Phosphothreonine(PKC)HMM predict
215Phosphoserine(IKK)HMM predict
219S-palmitoylHMM predict
220S-palmitoylHMM predict
233N-linkedHMM predict
264Phosphoserine(CK1)HMM predict
295Phosphoserine(ATM)HMM predict
302Phosphotyrosine(Syk)HMM predict
302Phosphotyrosine(EGFR)HMM predict
302Phosphotyrosine(INSR)HMM predict
302SulfotyrosineHMM predict
319N-linkedHMM predict
329Phosphoserine(CK1)HMM predict
340Phosphoserine(CK1)HMM predict
381Phosphotyrosine(Syk)HMM predict
381SulfotyrosineHMM predict
389Phosphothreonine(PKC)HMM predict
446Phosphothreonine(PKA)HMM predict
462Phosphoserine(CK1)HMM predict
536Phosphoserine(IKK)HMM predict
538Phosphoserine(IKK)HMM predict
540Phosphoserine(CK1)HMM predict
582Phosphoserine(CK1)HMM predict
583Phosphoserine(CK1)HMM predict
602Phosphoserine(PKG)HMM predict
626N-linkedHMM predict
697Phosphoserine(CK1)HMM predict
896Phosphothreonine(CK2)HMM predict
999Phosphoserine(CK1)HMM predict
1000Phosphoserine(CK1)HMM predict
1043Phosphotyrosine(Syk)HMM predict
1076Phosphoserine(CK1)HMM predict
1161Phosphoserine(ATM)HMM predict
1274Phosphothreonine(CK2)HMM predict
1281Phosphoserine(ATM)HMM predict
1295Phosphoserine(ATM)HMM predict
1352N-linkedHMM predict
1462Phosphoserine(MAPK)HMM predict
1487Phosphoserine(CK1)HMM predict
1601Phosphoserine(CK1)HMM predict
1678Phosphothreonine(PKA)HMM predict
1774Phosphoserine(ATM)HMM predict
1803Phosphoserine(ATM)HMM predict
1853Phosphothreonine(PKC)HMM predict
1896Phosphoserine(PKG)HMM predict
1951Phosphoserine(CK1)HMM predict
1993Phosphoserine(CK1)HMM predict
2189Phosphoserine(CK1)HMM predict
2229Phosphoserine(IKK)HMM predict
2233O-linkedHMM predict
2234O-linkedHMM predict
2259Phosphoserine(IKK)HMM predict
2332Phosphoserine(CDK)HMM predict
2332Phosphoserine(CDC2)HMM predict
2332Phosphoserine(IKK)HMM predict
2364Phosphothreonine(PKC)HMM predict
2380Phosphothreonine(PKC)HMM predict
2394Phosphoserine(IKK)HMM predict
2417Phosphoserine(IKK)HMM predict
2421Phosphoserine(IKK)HMM predict
2423O-linkedHMM predict
2424Phosphoserine(CDK)HMM predict
2424Phosphoserine(CDC2)HMM predict
2424Phosphoserine(MAPK)HMM predict
2433Phosphoserine(CDC2)HMM predict
2433O-linkedHMM predict
2435O-linkedHMM predict
2435O-linkedHMM predict
2435Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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
16308 mRNA CEP2 chr20 33506563 33563216 204 EST chr20 33527551 33529166Sense/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