AutismKB 2.0

Annotation Detail for OPHN1


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Basic Information Top
Gene Symbol:OPHN1 ( ARHGAP41,MRX60,OPN1 )
Gene Full Name: oligophrenin 1
Band: Xq12
Quick LinksEntrez ID:4983; OMIM: 300127; Uniprot ID:OPHN1_HUMAN; ENSEMBL ID: ENSG00000079482; HGNC ID: 8148
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
52N-linkedHMM predict
77Phosphothreonine(CK2)HMM predict
181SulfotyrosineHMM predict
271SulfotyrosineHMM predict
291Phosphotyrosine(Syk)HMM predict
326Phosphothreonine(PKA)HMM predict
370Phosphotyrosine(INSR)HMM predict
370Phosphotyrosine(EGFR)HMM predict
372Phosphoserine(CDK)HMM predict
571O-linkedHMM predict
610PhosphoserineHMM predict
610Phosphoserine(CK2)HMM predict
618Phosphothreonine(CDC2)HMM predict
620N-linkedHMM predict
622O-linkedHMM predict
622O-linkedHMM predict
651MethyllysineHMM predict
652Phosphoserine(CDC2)HMM predict
654Phosphoserine(PKA)HMM predict
685Phosphothreonine(MAPK)HMM predict
689O-linkedHMM predict
696O-linkedHMM predict
726Phosphoserine(CK1)HMM predict
753Phosphothreonine(CDK)HMM predict
774O-linkedHMM predict
785PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002547
  • Location:chrX 67179439-67570371
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Sox2 hESGSE18292 67177752 67177963 211 1582
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 67333619 67333758 139 0
CTCF CD4SISSRdata 67333619 67333758 139 0
CTCF G2GSE9613 67207221 67207506 285 0
CTCF G2GSE9613 67269342 67269505 163 0
CTCF G2GSE9613 67334000 67334343 343 0
CTCF G2GSE9613 67569835 67570666 831 0
ER E2-MCF7GSE14664 67310695 67310783 88 0
ER E2-MCF7GSE14664 67384311 67384347 36 0
ER E2-MCF7GSE14664 67470905 67470942 37 0
ER E2-MCF7GSE14664 67475657 67475692 35 0
ER Fulvestrant-MCF7GSE14664 67333437 67333481 44 0
ER Fulvestrant-MCF7GSE14664 67384308 67384353 45 0
ER MCF7GSE19013 67492021 67492886 865 0
ER MCF7GSE19013 67539166 67539711 545 0
FOXA1 MCF7GSE15244 67491957 67492291 334 0
FOXA1 MCF7GSE15244 67539095 67539746 651 0
Fos K562GSE19551 67323332 67323742 410 0
Oct1 H2O2-HelaGSE14283 67384312 67384345 33 0
Oct1 H2O2-HelaGSE14283 67510034 67510072 38 0
Oct1 HelaGSE14283 67224552 67224598 46 0
Oct1 HelaGSE14283 67224712 67224749 37 0
Oct1 HelaGSE14283 67264067 67264106 39 0
Oct1 HelaGSE14283 67281957 67281994 37 0
Oct1 HelaGSE14283 67285459 67285521 62 0
Oct1 HelaGSE14283 67323256 67323292 36 0
Oct1 HelaGSE14283 67331345 67331408 63 0
Oct1 HelaGSE14283 67333445 67333487 42 0
Oct1 HelaGSE14283 67352299 67352335 36 0
Oct1 HelaGSE14283 67358209 67358248 39 0
Oct1 HelaGSE14283 67384304 67384348 44 0
Oct1 HelaGSE14283 67395760 67395793 33 0
Oct1 HelaGSE14283 67396023 67396053 30 0
Oct1 HelaGSE14283 67413106 67413145 39 0
Oct1 HelaGSE14283 67439606 67439659 53 0
Oct1 HelaGSE14283 67439691 67439717 26 0
Oct1 HelaGSE14283 67450229 67450300 71 0
Oct1 HelaGSE14283 67466946 67466981 35 0
Oct1 HelaGSE14283 67481589 67481625 36 0
Oct1 HelaGSE14283 67510025 67510073 48 0
Oct1 HelaGSE14283 67557559 67557617 58 0
P300 T0-glioblastomaGSE21026 67444256 67444903 647 0
P300 T30-glioblastomaGSE21026 67444340 67445007 667 0
PHF8 293TGSE20725 67569452 67570873 1421 0
RARA MCF7GSE15244 67197072 67198146 1074 0
RARA MCF7GSE15244 67491775 67492291 516 0
RARA MCF7GSE15244 67539062 67539854 792 0
RARG MCF7GSE15244 67197111 67197969 858 0
RARG MCF7GSE15244 67539095 67539818 723 0
Rb GrowingGSE19898 67339924 67340111 187 0
Rb QuiescentGSE19898 67569755 67570116 361 0
Rb SenescentGSE19898 67569943 67570148 205 0
Rb SenescentGSE19898 67570227 67570447 220 0
Sox2 hESGSE18292 67320547 67320694 147 0
TFAP2C MCF7GSE21234 67287902 67288350 448 0
TFAP2C MCF7GSE21234 67548403 67548798 395 0
hScc1 BcellGSE12603 67269342 67269660 318 0
hScc1 CdLSGSE12603 67333406 67334272 866 0
hScc1 G2GSE9613 67333630 67334343 713 0
hScc1 G2GSE9613 67569943 67570728 785 0
p130 QuiescentGSE19898 67333632 67333830 198 0
p130 SenescentGSE19898 67570182 67570393 211 0
p130 shRbQuiescentGSE19898 67569876 67570403 527 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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