AutismKB 2.0

Annotation Detail for OSBPL8


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Basic Information Top
Gene Symbol:OSBPL8 ( DKFZp686A11164,MGC126578,MGC133203,MST120,MSTP120,ORP8,OSBP10 )
Gene Full Name: oxysterol binding protein-like 8
Band: 12q14
Quick LinksEntrez ID:114882; OMIM: 606736; Uniprot ID:OSBL8_HUMAN; ENSEMBL ID: ENSG00000091039; HGNC ID: 16396
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
52Phosphotyrosine.
56Phosphothreonine.
65Phosphoserine.
68Phosphoserine.
314Phosphoserine.
328Phosphoserine.
342Phosphoserine.
350Phosphoserine.
353Phosphoserine.
355Phosphothreonine.
357Phosphothreonine.
358Phosphoserine.
798Phosphoserine.
799Phosphoserine.
807Phosphoserine.
808Phosphoserine.
810Phosphoserine.
814Phosphoserine.
Location(AA) Modifications Resource
328Phosphoserine.Swiss-Prot 53.0
342Phosphoserine.Swiss-Prot 53.0
350Phosphoserine.Swiss-Prot 53.0
353Phosphoserine.Swiss-Prot 53.0
355Phosphothreonine.Swiss-Prot 53.0
357Phosphothreonine.Swiss-Prot 53.0
358Phosphoserine.Swiss-Prot 53.0
798Phosphoserine.Swiss-Prot 53.0
799Phosphoserine.Swiss-Prot 53.0
807Phosphoserine.Swiss-Prot 53.0
808Phosphoserine.Swiss-Prot 53.0
810Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
14Phosphoserine(CK1)HMM predict
39Phosphothreonine(MAPK)HMM predict
52Phosphotyrosine(EGFR)HMM predict
54Phosphothreonine(CDK)HMM predict
54Phosphothreonine(MAPK)HMM predict
65Phosphoserine(CDK)HMM predict
65Phosphoserine(CDC2)HMM predict
65O-linkedHMM predict
65Phosphoserine(MAPK)HMM predict
65Phosphoserine(ATM)HMM predict
68Phosphoserine(MAPK)HMM predict
82Phosphoserine(ATM)HMM predict
89Phosphoserine(CK1)HMM predict
93Phosphoserine(CK1)HMM predict
103N-linkedHMM predict
109Phosphoserine(IKK)HMM predict
112Phosphoserine(CK1)HMM predict
113Phosphoserine(CK1)HMM predict
113Phosphoserine(CDK)HMM predict
116Phosphothreonine(PKC)HMM predict
120Phosphoserine(PKG)HMM predict
136Phosphothreonine(PKA)HMM predict
227O-linkedHMM predict
284Phosphoserine(CK2)HMM predict
284Phosphoserine(CK1)HMM predict
287Phosphoserine(CK1)HMM predict
289O-linkedHMM predict
312N-linkedHMM predict
314Phosphoserine(CK2)HMM predict
327Phosphotyrosine(Jak)HMM predict
328Phosphoserine(ATM)HMM predict
342Phosphoserine(CK1)HMM predict
353Phosphoserine(CK1)HMM predict
365Phosphotyrosine(EGFR)HMM predict
365Phosphotyrosine(Jak)HMM predict
365Phosphotyrosine(INSR)HMM predict
365PhosphotyrosineHMM predict
365SulfotyrosineHMM predict
379Phosphotyrosine(INSR)HMM predict
394Phosphoserine(IKK)HMM predict
394Phosphoserine(ATM)HMM predict
403N-linkedHMM predict
443Phosphotyrosine(Syk)HMM predict
443SulfotyrosineHMM predict
592N-linkedHMM predict
658N-linkedHMM predict
707Phosphotyrosine(Jak)HMM predict
787Phosphothreonine(PKA)HMM predict
797Phosphotyrosine(Jak)HMM predict
799Phosphoserine(ATM)HMM predict
799Phosphoserine(CDC2)HMM predict
810Phosphoserine(CK1)HMM predict
819Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001003712
  • Location:chr12 75269710-75477719
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 75480897 75481334 437 3396
Oct1 HelaGSE14283 75484944 75484975 31 7240
RARA MCF7GSE15244 75479301 75479484 183 1673
TAF HelaGSE8489 75479301 75479484 183 1673
TAF k562GSE8489 75477942 75478692 750 598
USF1 HepG2E 75477843 75478761 918 583
USF2 HepG2E 75478013 75478558 545 566
p130 SenescentGSE19898 75477540 75478140 600 121
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 75373785 75373942 157 0
CTCF G2GSE9613 75476817 75478093 1276 0
Fos K562GSE19551 75320084 75320574 490 0
Fos K562GSE19551 75388457 75388957 500 0
GATA3 MCF7GSE15244 75340311 75341161 850 0
H3ac HepG2E 75475902 75476713 811 0
KLF4 hESGSE17917 75477528 75477799 271 0
Myc K562GSE19551 75320154 75320498 344 0
Myc K562GSE19551 75388570 75388765 195 0
Myc hESGSE17917 75477298 75477783 485 0
Nanog hESGSE18292 75373724 75373973 249 0
Nanog hESGSE18292 75415217 75415457 240 0
Nanog hESGSE18292 75436811 75437023 212 0
Oct1 HelaGSE14283 75453405 75453459 54 0
Oct4 ESGSE20650 75436743 75437070 327 0
P300 T30-glioblastomaGSE21026 75388173 75389126 953 0
PHF8 293TGSE20725 75476882 75478365 1483 0
PHF8 HeLaGSE20725 75476784 75478131 1347 0
Rb SenescentGSE19898 75477410 75477969 559 0
STAT1 HeLaGSE12782 75426123 75427421 1298 0
STAT1 HeLaGSE12783 75426123 75427368 1245 0
Sox2 hESGSE18292 75415205 75415474 269 0
TAF HelaGSE8489 75465415 75466627 1212 0
TAF HelaGSE8489 75476291 75476970 679 0
hScc1 BcellGSE12603 75373545 75373993 448 0
hScc1 BcellGSE12603 75476928 75477700 772 0
hScc1 CdLSGSE12603 75373545 75373993 448 0
hScc1 G2GSE9613 75476817 75478127 1310 0
p63 keratinocytesGSE17611 75330775 75331630 855 0
p63 keratinocytesGSE17611 75462241 75463081 840 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-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
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
349 Unknown MicroArray miR-124 OSBPL8 n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000091039 G1-to-S transition n_a n_a "epithelium, lymphoblast, lymphocyte, leukocyte, macrophage, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, non-Hodgkin's, sarcoma"
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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