AutismKB 2.0

Annotation Detail for RPH3A


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Basic Information Top
Gene Symbol:RPH3A ( KIAA0985 )
Gene Full Name: rabphilin 3A homolog (mouse)
Band: 12q24.13
Quick LinksEntrez ID:22895; OMIM: 612159; Uniprot ID:RP3A_HUMAN; ENSEMBL ID: ENSG00000089169; HGNC ID: 17056
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
272Phosphoserine (By similarity).
Location(AA) Modifications Resource
272Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
8N-linkedHMM predict
11N-linkedHMM predict
51Phosphothreonine(CK2)HMM predict
115S-palmitoylHMM predict
226MethylarginineHMM predict
229Phosphotyrosine(INSR)HMM predict
237Phosphoserine(CAMK2)HMM predict
237Phosphoserine(PKG)HMM predict
248PhosphoserineHMM predict
248Phosphoserine(CK1)HMM predict
250Phosphoserine(IKK)HMM predict
263Phosphoserine(CDC2)HMM predict
272Phosphoserine(PKA)HMM predict
272Phosphoserine(PKB)HMM predict
272Phosphoserine(PKG)HMM predict
282Phosphoserine(IKK)HMM predict
285Phosphoserine(CDC2)HMM predict
285O-linkedHMM predict
296Phosphothreonine(MAPK)HMM predict
300O-linkedHMM predict
320O-linkedHMM predict
325O-linkedHMM predict
350Phosphoserine(CK1)HMM predict
353Phosphoserine(ATM)HMM predict
356Phosphotyrosine(Abl)HMM predict
356Phosphotyrosine(SRC)HMM predict
357Phosphoserine(ATM)HMM predict
357Phosphoserine(IKK)HMM predict
360O-linkedHMM predict
360O-linkedHMM predict
385SulfotyrosineHMM predict
406N-linkedHMM predict
460N-linkedHMM predict
527Phosphothreonine(PKC)HMM predict
585Phosphotyrosine(Syk)HMM predict
650Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014954
  • Location:chr12 111714124-111819626
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 111710243 111710409 166 3799
ER Fulvestrant-MCF7GSE14664 111701326 111701363 37 12780
FOXA1 MCF7GSE15244 111713396 111713850 454 502
KLF4 hESGSE17917 111713722 111713945 223 291
NRSF JurkatGSE13047 111712899 111714910 2011 220
NRSF-mono JurkatQuESTdata 111712904 111715005 2101 170
NRSF-poly JurkatQuESTdata 111712751 111715096 2345 201
Oct1 HelaGSE14283 111701324 111701359 35 12783
Oct1 HelaGSE14283 111705490 111705533 43 8613
TFAP2C MCF7GSE21234 111713609 111713892 283 374
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 111822540 111822858 318 3073
CTCF CD4SISSRdata 111822540 111822858 318 3073
CTCF G2GSE9613 111821112 111821333 221 1596
CTCF G2GSE9613 111822627 111823006 379 3190
CTCF G2GSE9613 111823377 111823733 356 3929
FOXA1 MCF7GSE15244 111822665 111823626 961 3519
Nanog hESGSE18292 111822618 111822807 189 3086
RARA MCF7GSE15244 111822627 111823733 1106 3554
RARG MCF7GSE15244 111822627 111823733 1106 3554
Sox2 hESGSE18292 111822572 111822992 420 3156
hScc1 BcellGSE12603 111822627 111823006 379 3190
hScc1 BcellGSE12603 111823557 111823733 176 4019
hScc1 CdLSGSE12603 111822627 111822965 338 3170
hScc1 G2GSE9613 111822627 111822965 338 3170
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 111777642 111777859 217 0
CTCF G2GSE9613 111726418 111726749 331 0
CTCF G2GSE9613 111729967 111730233 266 0
CTCF G2GSE9613 111745970 111746187 217 0
CTCF G2GSE9613 111746679 111747110 431 0
CTCF G2GSE9613 111748306 111748605 299 0
CTCF G2GSE9613 111769845 111770055 210 0
CTCF G2GSE9613 111772068 111772235 167 0
CTCF G2GSE9613 111777299 111777937 638 0
CTCF G2GSE9613 111792008 111792273 265 0
CTCF G2GSE9613 111797060 111797325 265 0
CTCF G2GSE9613 111797814 111798102 288 0
CTCF G2GSE9613 111798793 111798942 149 0
CTCF G2GSE9613 111800289 111800474 185 0
CTCF G2GSE9613 111803826 111804012 186 0
CTCF G2GSE9613 111813002 111813259 257 0
ER Fulvestrant-MCF7GSE14664 111760722 111760765 43 0
FOXA1 MCF7GSE15244 111729235 111730730 1495 0
NRSF JurkatGSE13047 111734332 111736309 1977 0
NRSF JurkatGSE13047 111790334 111791341 1007 0
NRSF JurkatGSE13047 111815125 111815368 243 0
NRSF mAbJurkat 111712589 111717700 5111 0
NRSF mAbJurkat 111719239 111719853 614 0
NRSF mAbJurkat 111731339 111733033 1694 0
NRSF mAbJurkat 111734527 111735017 490 0
NRSF mAbJurkat 111735402 111735838 436 0
NRSF mAbJurkat 111736346 111736544 198 0
NRSF mAbJurkat 111786657 111789596 2939 0
NRSF mAbJurkat 111790467 111792704 2237 0
NRSF-mono JurkatQuESTdata 111734610 111735842 1232 0
NRSF-mono JurkatQuESTdata 111790340 111791283 943 0
NRSF pAbJurkat 111712589 111716225 3636 0
NRSF pAbJurkat 111735402 111735838 436 0
NRSF pAbJurkat 111786767 111787442 675 0
NRSF pAbJurkat 111788837 111789559 722 0
NRSF pAbJurkat 111790467 111791023 556 0
NRSF pAbJurkat 111792809 111793048 239 0
NRSF-poly JurkatQuESTdata 111734594 111735701 1107 0
NRSF-poly JurkatQuESTdata 111790005 111791127 1122 0
Oct1 H2O2-HelaGSE14283 111749321 111749359 38 0
Oct1 HelaGSE14283 111742436 111742465 29 0
Oct1 HelaGSE14283 111749319 111749362 43 0
Oct1 HelaGSE14283 111759679 111759708 29 0
TFAP2C MCF7GSE21234 111773617 111774083 466 0
hScc1 BcellGSE12603 111777548 111777760 212 0
hScc1 G2GSE9613 111771994 111772235 241 0
hScc1 G2GSE9613 111777548 111777865 317 0
hScc1 G2GSE9613 111797981 111798102 121 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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