AutismKB 2.0

Annotation Detail for JPH3


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Basic Information Top
Gene Symbol:JPH3 ( CAGL237,FLJ44707,HDL2,JP-3,JP3,TNRC22 )
Gene Full Name: junctophilin 3
Band: 16q24.2
Quick LinksEntrez ID:57338; OMIM: 605268; Uniprot ID:JPH3_HUMAN; ENSEMBL ID: ENSG00000154118; HGNC ID: 14203
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
420Phosphoserine (By similarity).
506Phosphoserine (By similarity).
Location(AA) Modifications Resource
420Phosphoserine (By similarity).Swiss-Prot 53.0
506Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
98MethylarginineHMM predict
158Phosphoserine(CDC2)HMM predict
173N-linkedHMM predict
188Phosphoserine(CDC2)HMM predict
193MethylarginineHMM predict
202Phosphoserine(CK2)HMM predict
228Phosphoserine(PKA)HMM predict
232Phosphoserine(IKK)HMM predict
233Phosphoserine(IKK)HMM predict
233Phosphoserine(CK1)HMM predict
236Phosphoserine(ATM)HMM predict
246Phosphoserine(IKK)HMM predict
251Phosphoserine(IKK)HMM predict
254Phosphoserine(IKK)HMM predict
303Phosphoserine(ATM)HMM predict
323Phosphotyrosine(INSR)HMM predict
375Phosphothreonine(PKC)HMM predict
465Phosphothreonine(PKA)HMM predict
466Phosphothreonine(PKA)HMM predict
482O-linkedHMM predict
483Phosphoserine(CDC2)HMM predict
483Phosphoserine(IKK)HMM predict
483O-linkedHMM predict
487O-linkedHMM predict
487O-linkedHMM predict
487Phosphothreonine(MAPK)HMM predict
506Phosphoserine(PKB)HMM predict
506Phosphoserine(CAMK2)HMM predict
506Phosphoserine(IKK)HMM predict
506Phosphoserine(PKG)HMM predict
578Phosphoserine(PKB)HMM predict
578Phosphoserine(PKA)HMM predict
592N-linkedHMM predict
594Phosphoserine(CDC2)HMM predict
631Phosphoserine(PKG)HMM predict
631Phosphoserine(CAMK2)HMM predict
669Phosphoserine(IKK)HMM predict
698Phosphoserine(CDC2)HMM predict
698Phosphoserine(ATM)HMM predict
720Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_020655
  • Location:chr16 86193999-86289259
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 86179960 86180168 208 13936
CTCF CD4SISSRdata 86179960 86180168 208 13936
CTCF G2GSE9613 86173928 86174102 174 19985
H3K27me3 colorectalcancer 86190787 86191684 897 2764
NRSF mAbJurkat 86189010 86189989 979 4500
TAF HelaGSE8489 86189010 86189989 979 4500
hScc1 BcellGSE12603 86179863 86180297 434 13920
hScc1 BcellGSE12603 86185080 86185213 133 8853
hScc1 CdLSGSE12603 86179863 86180156 293 13990
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 86293571 86293745 174 4399
CTCF CD4SISSRdata 86293571 86293745 174 4399
CTCF G2GSE9613 86292429 86293835 1406 3873
hScc1 BcellGSE12603 86292689 86294060 1371 4115
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 86273428 86273529 101 0
CTCF CD4SISSRdata 86273428 86273529 101 0
CTCF JurkatGSE12889 86273307 86273698 391 0
CTCF G2GSE9613 86195962 86196255 293 0
CTCF G2GSE9613 86205893 86206096 203 0
CTCF G2GSE9613 86206893 86207146 253 0
CTCF G2GSE9613 86219223 86219536 313 0
CTCF G2GSE9613 86226467 86227890 1423 0
CTCF G2GSE9613 86235343 86235721 378 0
CTCF G2GSE9613 86243976 86244617 641 0
CTCF G2GSE9613 86262359 86263011 652 0
CTCF G2GSE9613 86272281 86272809 528 0
CTCF G2GSE9613 86278155 86278676 521 0
CTCF G2GSE9613 86282008 86282481 473 0
CTCF G2GSE9613 86285011 86285733 722 0
Myc K562GSE19551 86248691 86249190 499 0
NRSF JurkatGSE13047 86198458 86200353 1895 0
NRSF JurkatGSE13047 86251560 86253538 1978 0
NRSF mAbJurkat 86196367 86199837 3470 0
NRSF mAbJurkat 86200682 86200858 176 0
NRSF mAbJurkat 86201493 86203010 1517 0
NRSF mAbJurkat 86205209 86207272 2063 0
NRSF mAbJurkat 86244154 86244617 463 0
NRSF mAbJurkat 86251012 86251962 950 0
NRSF mAbJurkat 86252526 86252820 294 0
NRSF mAbJurkat 86253255 86254188 933 0
NRSF mAbJurkat 86254531 86255031 500 0
NRSF-mono JurkatQuESTdata 86198879 86200326 1447 0
NRSF-mono JurkatQuESTdata 86252090 86253491 1401 0
NRSF pAbJurkat 86197547 86199837 2290 0
NRSF pAbJurkat 86201493 86203010 1517 0
NRSF pAbJurkat 86252571 86252820 249 0
NRSF pAbJurkat 86253255 86254188 933 0
NRSF pAbJurkat 86262359 86262809 450 0
NRSF-poly JurkatQuESTdata 86198863 86199952 1089 0
NRSF-poly JurkatQuESTdata 86252389 86253208 819 0
P300 T30-glioblastomaGSE21026 86219864 86220399 535 0
P300 T30-glioblastomaGSE21026 86272975 86273503 528 0
RARA MCF7GSE15244 86277334 86277773 439 0
Rb GrowingGSE19898 86199664 86199812 148 0
TFAP2C MCF7GSE21234 86247045 86247640 595 0
TFAP2C MCF7GSE21234 86266141 86266683 542 0
hScc1 BcellGSE12603 86226467 86227849 1382 0
hScc1 BcellGSE12603 86235307 86235681 374 0
hScc1 BcellGSE12603 86252650 86252820 170 0
hScc1 BcellGSE12603 86261161 86261596 435 0
hScc1 CdLSGSE12603 86226589 86227890 1301 0
hScc1 G2GSE9613 86226352 86228269 1917 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
10365 mRNA JPH3 chr16 86193999 86289263 77 EST chr16 86287591 86290522Sense/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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