AutismKB 2.0

Annotation Detail for CASP8AP2


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Basic Information Top
Gene Symbol:CASP8AP2 ( CED-4,FLASH,FLJ11208,KIAA1315,RIP25 )
Gene Full Name: caspase 8 associated protein 2
Band: 6q15
Quick LinksEntrez ID:9994; OMIM: 606880; Uniprot ID:C8AP2_HUMAN; ENSEMBL ID: ENSG00000118412; HGNC ID: 1510
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1278Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
20Phosphoserine(CDC2)HMM predict
33Phosphotyrosine(INSR)HMM predict
41Phosphoserine(CK2)HMM predict
45O-linkedHMM predict
47Phosphoserine(IKK)HMM predict
63Phosphothreonine(CK2)HMM predict
134Phosphoserine(CK1)HMM predict
194Phosphoserine(CK1)HMM predict
211Phosphothreonine(PKA)HMM predict
238Phosphoserine(CK2)HMM predict
307Phosphoserine(IKK)HMM predict
313Phosphotyrosine(INSR)HMM predict
313Phosphotyrosine(Syk)HMM predict
319N-linkedHMM predict
326Phosphothreonine(CDC2)HMM predict
333Phosphoserine(IKK)HMM predict
337Phosphoserine(ATM)HMM predict
350Phosphoserine(CK1)HMM predict
350Phosphoserine(ATM)HMM predict
389Phosphoserine(CK1)HMM predict
402N-linkedHMM predict
404Phosphoserine(CK1)HMM predict
435Phosphoserine(IKK)HMM predict
469Phosphothreonine(PKC)HMM predict
547N-linkedHMM predict
551N-linkedHMM predict
563N-linkedHMM predict
567Phosphoserine(CDC2)HMM predict
567Phosphoserine(CDK)HMM predict
575Phosphoserine(IKK)HMM predict
594Phosphoserine(IKK)HMM predict
658Phosphoserine(CK1)HMM predict
680Phosphoserine(IKK)HMM predict
739Phosphotyrosine(INSR)HMM predict
757O-linkedHMM predict
762Phosphoserine(IKK)HMM predict
841Phosphoserine(CK1)HMM predict
858Phosphoserine(CDC2)HMM predict
858Phosphoserine(CDK)HMM predict
862Phosphoserine(CDC2)HMM predict
873N-linkedHMM predict
883N-linkedHMM predict
884N-linkedHMM predict
899Phosphoserine(CAMK2)HMM predict
899Phosphoserine(CK1)HMM predict
901Phosphoserine(IKK)HMM predict
901PhosphoserineHMM predict
942Phosphoserine(IKK)HMM predict
945Phosphoserine(CK1)HMM predict
960Phosphoserine(PKA)HMM predict
960Phosphoserine(PKG)HMM predict
968Phosphothreonine(PKC)HMM predict
1005O-linkedHMM predict
1007Phosphoserine(CK1)HMM predict
1007Phosphoserine(CK2)HMM predict
1008Phosphoserine(CK1)HMM predict
1179Phosphoserine(ATM)HMM predict
1183Phosphoserine(IKK)HMM predict
1197Phosphoserine(PKG)HMM predict
1197Phosphoserine(CK1)HMM predict
1218Phosphotyrosine(Syk)HMM predict
1222N-linkedHMM predict
1223N-linkedHMM predict
1224Phosphoserine(CK2)HMM predict
1227N-linkedHMM predict
1228Phosphothreonine(PKC)HMM predict
1247Phosphoserine(PKG)HMM predict
1249Phosphoserine(CK1)HMM predict
1253Phosphoserine(CK1)HMM predict
1261Phosphothreonine(CDC2)HMM predict
1261Phosphothreonine(MAPK)HMM predict
1261Phosphothreonine(CDK)HMM predict
1270Phosphoserine(CK2)HMM predict
1329N-linkedHMM predict
1340Phosphothreonine(CDC2)HMM predict
1340Phosphothreonine(CDK)HMM predict
1364O-linkedHMM predict
1368Phosphoserine(CDC2)HMM predict
1445Phosphothreonine(PKC)HMM predict
1448Phosphoserine(CDC2)HMM predict
1448Phosphoserine(CDK)HMM predict
1464Phosphoserine(CK1)HMM predict
1466Phosphoserine(CK2)HMM predict
1467Phosphoserine(CK2)HMM predict
1468Phosphothreonine(CDC2)HMM predict
1468Phosphothreonine(MAPK)HMM predict
1501N-linkedHMM predict
1502Phosphoserine(CK1)HMM predict
1503Phosphoserine(CK1)HMM predict
1506O-linkedHMM predict
1506Phosphoserine(IKK)HMM predict
1507Phosphoserine(IKK)HMM predict
1514O-linkedHMM predict
1549Phosphothreonine(PKA)HMM predict
1568Phosphoserine(CK1)HMM predict
1611Phosphothreonine(CK2)HMM predict
1674Phosphoserine(ATM)HMM predict
1794Phosphotyrosine(EGFR)HMM predict
1801Phosphoserine(CDK)HMM predict
1801Phosphoserine(IKK)HMM predict
1814Phosphoserine(CK1)HMM predict
1818Phosphoserine(IKK)HMM predict
1838N-linkedHMM predict
1843N-linkedHMM predict
1868Phosphoserine(IKK)HMM predict
1892Phosphoserine(PKC)HMM predict
1909O-linkedHMM predict
1912O-linkedHMM predict
1969PhenylalanineHMM predict
1972PhenylalanineHMM predict
1973MethionineHMM predict
1974MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012115
  • Location:chr6 90596378-90640874
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 90595444 90596656 1212 329
Fos K562GSE19551 90595619 90596502 883 318
H3K4me3 colorectalcancer 90595628 90596036 408 547
H3ac HepG2E 90595628 90596104 476 513
Rb GrowingGSE19898 90596029 90596620 591 54
Rb QuiescentGSE19898 90595957 90596624 667 88
Rb SenescentGSE19898 90596017 90596644 627 48
TAF k562GSE8489 90595628 90595848 220 641
hScc1 BcellGSE12603 90595802 90596161 359 397
p130 QuiescentGSE19898 90596061 90596526 465 85
p130 shRbSenescentGSE19898 90595682 90596759 1077 158
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 90641261 90641288 27 400
Oct1 HelaGSE14283 90641253 90641285 32 395
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 90597075 90597140 65 0
ER Fulvestrant-MCF7GSE14664 90597075 90597138 63 0
H3K4me3 colorectalcancer 90596542 90597196 654 0
H3ac HepG2E 90596691 90597471 780 0
H3ac HepG2E 90598652 90598936 284 0
LIN9 SGSE7516 90596036 90596797 761 0
Oct1 HelaGSE14283 90597105 90597140 35 0
Oct1 HelaGSE14283 90597996 90598028 32 0
Oct1 HelaGSE14283 90607913 90607967 54 0
Oct1 HelaGSE14283 90634002 90634057 55 0
PHF8 293TGSE20725 90595872 90596929 1057 0
VDR GM10855-stimGSE22484 90600933 90602665 1732 0
p130 SenescentGSE19898 90595964 90596797 833 0
p130 shRbQuiescentGSE19898 90595987 90596877 890 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