AutismKB 2.0

Annotation Detail for OCRL


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Basic Information Top
Gene Symbol:OCRL ( INPP5F,LOCR,NPHL2,OCRL1 )
Gene Full Name: oculocerebrorenal syndrome of Lowe
Band: Xq26.1
Quick LinksEntrez ID:4952; OMIM: 300535; Uniprot ID:OCRL_HUMAN; ENSEMBL ID: ENSG00000122126; HGNC ID: 8108
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
129Phosphoserine(CK1)HMM predict
154N-linkedHMM predict
159N-linkedHMM predict
234Phosphotyrosine(INSR)HMM predict
256Phosphoserine(IKK)HMM predict
355O-linkedHMM predict
366N-linkedHMM predict
403N-linkedHMM predict
543Phosphotyrosine(EGFR)HMM predict
623Phosphotyrosine(Syk)HMM predict
627N-linkedHMM predict
709Phosphoserine(CK2)HMM predict
716Phosphoserine(IKK)HMM predict
880Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000276
  • Location:chrX 128501932-128554208
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc K562GSE19551 128501792 128502054 262 10
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 128562861 128563076 215 8760
CTCF CD4SISSRdata 128562861 128563076 215 8760
CTCF JurkatGSE12889 128567197 128567336 139 13058
CTCF G2GSE9613 128561541 128561711 170 7418
CTCF G2GSE9613 128562609 128562886 277 8539
CTCF G2GSE9613 128567206 128569020 1814 13905
RARA MCF7GSE15244 128566007 128566172 165 11881
Rb QuiescentGSE19898 128554779 128554980 201 671
TFAP2C MCF7GSE21234 128567034 128567677 643 13147
hScc1 CdLSGSE12603 128568583 128569020 437 14593
hScc1 G2GSE9613 128556287 128556609 322 2240
hScc1 G2GSE9613 128562452 128562990 538 8513
hScc1 G2GSE9613 128567206 128569020 1814 13905
hScc1 G2GSE9613 128571981 128572208 227 17886
p63 keratinocytesGSE17611 128560954 128561953 999 7245
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 128501594 128502331 737 0
Gata2 K562GSE18868 128539087 128539419 332 0
H3ac HepG2E 128502584 128502895 311 0
Nanog hESGSE18292 128526763 128526938 175 0
Oct1 H2O2-HelaGSE14283 128535388 128535420 32 0
Oct1 HelaGSE14283 128518702 128518729 27 0
TAF k562GSE8489 128540047 128540431 384 0
hScc1 BcellGSE12603 128501782 128502230 448 0
hScc1 G2GSE9613 128501820 128502438 618 0
p130 shRbQuiescentGSE19898 128502264 128502792 528 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
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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