AutismKB 2.0

Annotation Detail for PRPF8


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Basic Information Top
Gene Symbol:PRPF8 ( HPRP8,PRP8,PRPC8,RP13 )
Gene Full Name: PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)
Band: 17p13.3
Quick LinksEntrez ID:10594; OMIM: 607300; Uniprot ID:PRP8_HUMAN; ENSEMBL ID: ENSG00000174231; HGNC ID: 17340
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
1318Phosphothreonine (By similarity).
1463N6-acetyllysine.
1539Phosphoserine.
2042Phosphothreonine.
2064Phosphothreonine.
2079Phosphoserine.
Location(AA) Modifications Resource
1318Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
24Phosphotyrosine(INSR)HMM predict
26Phosphoserine(INSR)HMM predict
94Phosphotyrosine(Jak)HMM predict
219Phosphotyrosine(INSR)HMM predict
221N-linkedHMM predict
364Phosphoserine(CAMK2)HMM predict
364Phosphoserine(CK1)HMM predict
418Phosphothreonine(PKC)HMM predict
446Phosphoserine(PKG)HMM predict
520SulfotyrosineHMM predict
665Phosphoserine(PKG)HMM predict
766Phosphothreonine(PKC)HMM predict
770PhosphothreonineHMM predict
800Phosphotyrosine(Jak)HMM predict
800Phosphotyrosine(INSR)HMM predict
823Phosphoserine(PKG)HMM predict
857N-linkedHMM predict
859Phosphoserine(ATM)HMM predict
1023N-linkedHMM predict
1026N-linkedHMM predict
1203Phosphoserine(PKG)HMM predict
1297Phosphothreonine(PKC)HMM predict
1404Phosphothreonine(PKC)HMM predict
1445Phosphotyrosine(Syk)HMM predict
1535Phosphothreonine(PKA)HMM predict
1535Phosphothreonine(PKC)HMM predict
1568Phosphothreonine(PKC)HMM predict
1623N-linkedHMM predict
1638N-linkedHMM predict
1673PhosphoserineHMM predict
1697Phosphoserine(CDC2)HMM predict
1756Phosphoserine(ATM)HMM predict
1797N-linkedHMM predict
1841Phosphothreonine(PKC)HMM predict
1920SulfotyrosineHMM predict
2040O-linkedHMM predict
2079Phosphoserine(PKG)HMM predict
2091Phosphotyrosine(INSR)HMM predict
2093Phosphoserine(CK2)HMM predict
2168Phosphotyrosine(Syk)HMM predict
2183N-linkedHMM predict
2203N-linkedHMM predict
2217O-linkedHMM predict
2222Phosphoserine(IKK)HMM predict
2305Phosphotyrosine(Syk)HMM predict
2326Phosphotyrosine(Abl)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006445
  • Location:chr17 1500673-1534925
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 1535160 1535341 181 325
CTCF G2GSE9613 1543572 1543746 174 8734
Fos K562GSE19551 1534711 1535347 636 104
Myc K562GSE19551 1534625 1535367 742 71
PHF8 293TGSE20725 1534413 1535558 1145 60
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 1519471 1519696 225 0
CTCF CD4SISSRdata 1519471 1519696 225 0
CTCF HelaGSE12889 1519454 1519661 207 0
CTCF G2GSE9613 1516685 1516900 215 0
CTCF G2GSE9613 1519464 1519956 492 0
CTCF G2GSE9613 1534305 1534864 559 0
ETS1 JurkatGSE17954 1534221 1535373 1152 0
H3K4me3 colorectalcancer 1533339 1533907 568 0
H3ac HepG2E 1532100 1533000 900 0
H3ac HepG2E 1533339 1533907 568 0
H3ac HepG2E 1534243 1534667 424 0
Myc K562GSE19551 1519490 1519803 313 0
P300 T30-glioblastomaGSE21026 1533944 1535449 1505 0
PHF8 HeLaGSE20725 1534024 1535413 1389 0
PHF8 Hs68minusFBSGSE20725 1534347 1535231 884 0
RARG MCF7GSE15244 1509762 1510336 574 0
hScc1 BcellGSE12603 1510256 1510533 277 0
hScc1 BcellGSE12603 1519464 1519884 420 0
hScc1 BcellGSE12603 1534595 1534902 307 0
hScc1 CdLSGSE12603 1519464 1520095 631 0
hScc1 G2GSE9613 1519464 1520063 599 0
p130 SenescentGSE19898 1534193 1534427 234 0
p130 SenescentGSE19898 1534607 1535023 416 0
p130 shRbQuiescentGSE19898 1534131 1535036 905 0
p130 shRbSenescentGSE19898 1534093 1534591 498 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


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