AutismKB 2.0

Annotation Detail for JPH4


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Basic Information Top
Gene Symbol:JPH4 ( FLJ34253,JP4,JPHL1,KIAA1831 )
Gene Full Name: junctophilin 4
Band: 14q11.2
Quick LinksEntrez ID:84502; OMIM: NA; Uniprot ID:JPH4_HUMAN; ENSEMBL ID: ENSG00000092051; HGNC ID: 20156
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
141Phosphotyrosine(INSR)HMM predict
157Phosphoserine(CDK)HMM predict
157Phosphoserine(CDC2)HMM predict
162Phosphoserine(PKC)HMM predict
162Phosphoserine(PKB)HMM predict
162Phosphoserine(PKA)HMM predict
162Phosphoserine(IKK)HMM predict
162Phosphoserine(PKG)HMM predict
168Phosphoserine(ATM)HMM predict
168O-linkedHMM predict
172Phosphothreonine(CDC2)HMM predict
186O-linkedHMM predict
189Phosphoserine(CDK)HMM predict
212Phosphothreonine(PKA)HMM predict
236Phosphoserine(PKB)HMM predict
236Phosphoserine(CAMK2)HMM predict
236Phosphoserine(PKG)HMM predict
243Phosphoserine(PKA)HMM predict
250Phosphoserine(CK1)HMM predict
254O-linkedHMM predict
255O-linkedHMM predict
260O-linkedHMM predict
263O-linkedHMM predict
297Phosphoserine(ATM)HMM predict
372Phosphoserine(PKG)HMM predict
372Phosphoserine(CAMK2)HMM predict
372Phosphoserine(PKA)HMM predict
431Phosphoserine(IKK)HMM predict
434Phosphoserine(CK2)HMM predict
434Phosphoserine(CK1)HMM predict
457Phosphoserine(IKK)HMM predict
463Phosphoserine(ATM)HMM predict
463Phosphoserine(IKK)HMM predict
463Phosphoserine(CDC2)HMM predict
463PhosphoserineHMM predict
463Phosphoserine(MAPK)HMM predict
478Phosphoserine(IKK)HMM predict
478Phosphoserine(CDC2)HMM predict
478Phosphoserine(CDK)HMM predict
512Phosphotyrosine(INSR)HMM predict
512SulfotyrosineHMM predict
529Phosphoserine(IKK)HMM predict
562Phosphothreonine(PKC)HMM predict
595O-linkedHMM predict
595Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032452
  • Location:chr14 23107087-23117833
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23128126 23128352 226 10406
CTCF CD4SISSRdata 23128126 23128352 226 10406
CTCF JurkatGSE12889 23128107 23128311 204 10376
CTCF G2GSE9613 23128325 23128469 144 10564
Fos K562GSE19551 23120111 23120814 703 2629
Myc K562GSE19551 23128131 23128545 414 10505
Oct1 H2O2-HelaGSE14283 23130918 23130957 39 13104
Oct1 HelaGSE14283 23130918 23130956 38 13104
RARA MCF7GSE15244 23128325 23128917 592 10788
RARG MCF7GSE15244 23128325 23128917 592 10788
RNAII Tamoxifen-MCF7GSE14664 23130905 23130952 47 13095
hScc1 BcellGSE12603 23127933 23128619 686 10443
hScc1 CdLSGSE12603 23127933 23128619 686 10443
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 23115359 23115574 215 0
CTCF CD4SISSRdata 23115359 23115574 215 0
CTCF G2GSE9613 23114781 23115325 544 0
CTCF G2GSE9613 23116227 23116651 424 0
H3K27me3 colorectalcancer 23115579 23116018 439 0
H3ac HepG2E 23110558 23112410 1852 0
NFkBII GM12892GSE19485 23116453 23117667 1214 0
TFAP2C MCF7GSE21234 23108357 23109194 837 0
hScc1 BcellGSE12603 23114781 23115370 589 0
hScc1 BcellGSE12603 23116121 23116497 376 0
hScc1 CdLSGSE12603 23109182 23109333 151 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-205 hsa-mir-205 1 19065659
No data
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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