AutismKB 2.0

Annotation Detail for PHACTR1


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Basic Information Top
Gene Symbol:PHACTR1 ( KIAA1733,MGC126575,MGC126577,RPEL,RPEL1,dJ257A7.2 )
Gene Full Name: phosphatase and actin regulator 1
Band: 6p24.1
Quick LinksEntrez ID:221692; OMIM: 608723; Uniprot ID:PHAR1_HUMAN; ENSEMBL ID: ENSG00000112137; HGNC ID: 20990
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
104Phosphothreonine (By similarity).
Location(AA) Modifications Resource
104Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
39Phosphothreonine(PKA)HMM predict
51Phosphoserine(CK2)HMM predict
71Phosphotyrosine(Syk)HMM predict
104Phosphothreonine(MAPK)HMM predict
104Phosphothreonine(CDK)HMM predict
111Phosphoserine(PKG)HMM predict
145Phosphoserine(PKG)HMM predict
145Phosphoserine(PKB)HMM predict
145Phosphoserine(CAMK2)HMM predict
149Phosphoserine(PKG)HMM predict
163Phosphotyrosine(Syk)HMM predict
172Phosphoserine(CK2)HMM predict
172Phosphoserine(ATM)HMM predict
177Phosphoserine(CK1)HMM predict
187Phosphoserine(ATM)HMM predict
187Phosphoserine(IKK)HMM predict
209Phosphotyrosine(Syk)HMM predict
237Phosphoserine(IKK)HMM predict
302O-linkedHMM predict
317N-linkedHMM predict
329Phosphoserine(CK1)HMM predict
343Phosphoserine(ATM)HMM predict
385Phosphotyrosine(Syk)HMM predict
385Phosphotyrosine(EGFR)HMM predict
408Phosphoserine(CK1)HMM predict
447PhosphothreonineHMM predict
467Phosphoserine(PKG)HMM predict
467Phosphoserine(PKC)HMM predict
501Phosphothreonine(PKC)HMM predict
501Phosphothreonine(PKA)HMM predict
505Phosphoserine(PKC)HMM predict
505Phosphoserine(ATM)HMM predict
505Phosphoserine(PKG)HMM predict
509Phosphothreonine(PKC)HMM predict
534Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_030948
  • Location:chr6 12825818-13395506
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 13396450 13396731 281 1084
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 13002185 13002479 294 0
CTCF CD4GSE12889 13019703 13019843 140 0
CTCF CD4SISSRdata 13002185 13002479 294 0
CTCF CD4SISSRdata 13019703 13019843 140 0
CTCF G2GSE9613 12857426 12858253 827 0
CTCF G2GSE9613 12880014 12880236 222 0
CTCF G2GSE9613 12952664 12953229 565 0
CTCF G2GSE9613 12977433 12977772 339 0
CTCF G2GSE9613 12998543 12998770 227 0
CTCF G2GSE9613 13001951 13002484 533 0
CTCF G2GSE9613 13006525 13006798 273 0
CTCF G2GSE9613 13018237 13018392 155 0
CTCF G2GSE9613 13019066 13019387 321 0
CTCF G2GSE9613 13023181 13023387 206 0
CTCF G2GSE9613 13065682 13066268 586 0
CTCF G2GSE9613 13121853 13122626 773 0
CTCF G2GSE9613 13122879 13123391 512 0
CTCF G2GSE9613 13303019 13303289 270 0
CTCF G2GSE9613 13312733 13313104 371 0
CTCF G2GSE9613 13337788 13337914 126 0
CTCF G2GSE9613 13359171 13359882 711 0
CTCF G2GSE9613 13373264 13373445 181 0
CTCF G2GSE9613 13380463 13380857 394 0
CTCF G2GSE9613 13385713 13385854 141 0
CTCF G2GSE9613 13386470 13386615 145 0
CTCF G2GSE9613 13389896 13390182 286 0
CTCF G2GSE9613 13391575 13391921 346 0
ER MCF7GSE19013 13035117 13035731 614 0
Fos K562GSE19551 13152459 13153114 655 0
Fos K562GSE19551 13306944 13307351 407 0
FoxA1 MCF7MACSdata 12909437 12909580 143 0
FoxA1 MCF7MACSdata 12924111 12924337 226 0
FoxA1 MCF7MACSdata 12924547 12924738 191 0
KLF4 hESGSE17917 12953633 12953793 160 0
KLF4 hESGSE17917 13186019 13186439 420 0
Myc K562GSE19551 13002130 13002453 323 0
Myc K562GSE19551 13303047 13303522 475 0
NFkBII GM10847GSE19485 13380238 13383952 3714 0
NFkBII GM12878GSE19485 13366934 13370705 3771 0
NFkBII GM12878GSE19485 13380412 13383593 3181 0
NFkBII GM12892GSE19485 13366776 13370818 4042 0
NFkBII GM12892GSE19485 13379852 13384195 4343 0
NFkBII GM18505GSE19485 13380285 13383054 2769 0
NRSF JurkatGSE13047 12843968 12844511 543 0
NRSF JurkatGSE13047 12859172 12860667 1495 0
NRSF JurkatSISSRdata 12859841 12860636 795 0
NRSF mAbJurkat 12841855 12842287 432 0
NRSF mAbJurkat 12842821 12843142 321 0
NRSF mAbJurkat 12843681 12844846 1165 0
NRSF mAbJurkat 12855875 12857384 1509 0
NRSF mAbJurkat 12858804 12862135 3331 0
NRSF mAbJurkat 12862503 12862860 357 0
NRSF mAbJurkat 12863342 12866022 2680 0
NRSF-mono JurkatQuESTdata 12843967 12844405 438 0
NRSF-mono JurkatQuESTdata 12859717 12860650 933 0
NRSF-mono JurkatQuESTdata 13320328 13320686 358 0
NRSF-poly JurkatQuESTdata 12843991 12844326 335 0
NRSF-poly JurkatQuESTdata 12859762 12860676 914 0
NRSF-poly JurkatQuESTdata 13320350 13320605 255 0
Nanog hESGSE18292 12959443 12959868 425 0
Oct1 H2O2-HelaGSE14283 13017673 13017705 32 0
Oct1 H2O2-HelaGSE14283 13163344 13163385 41 0
Oct1 H2O2-HelaGSE14283 13299842 13299884 42 0
Oct1 H2O2-HelaGSE14283 13349776 13349816 40 0
Oct1 HelaGSE14283 12857297 12857323 26 0
Oct1 HelaGSE14283 13017673 13017706 33 0
Oct1 HelaGSE14283 13299842 13299887 45 0
Oct1 HelaGSE14283 13349777 13349814 37 0
Oct4 hESGSE17917 12953636 12953791 155 0
P300 T30-glioblastomaGSE21026 13322137 13322554 417 0
Pol2 GM12878GSE19551 13322225 13322457 232 0
RARA MCF7GSE15244 12923806 12925040 1234 0
RARA MCF7GSE15244 12978100 12978528 428 0
RARA MCF7GSE15244 13120388 13120680 292 0
Sox2 hESGSE18292 12995308 12995674 366 0
TFAP2C MCF7GSE21234 12909400 12909686 286 0
hScc1 BcellGSE12603 13065818 13066197 379 0
hScc1 BcellGSE12603 13303019 13303469 450 0
hScc1 BcellGSE12603 13341351 13341574 223 0
hScc1 BcellGSE12603 13386180 13386647 467 0
hScc1 CdLSGSE12603 12952734 12953266 532 0
hScc1 CdLSGSE12603 13001989 13002515 526 0
hScc1 CdLSGSE12603 13303019 13303546 527 0
hScc1 CdLSGSE12603 13337101 13338163 1062 0
hScc1 CdLSGSE12603 13381980 13382904 924 0
hScc1 G2GSE9613 13001843 13002515 672 0
hScc1 G2GSE9613 13019579 13020006 427 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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