AutismKB 2.0

Annotation Detail for EPAS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPAS1 ( ECYT4,HIF2A,HLF,MOP2,PASD2,bHLHe73 )
Gene Full Name: endothelial PAS domain protein 1
Band: 2p21
Quick LinksEntrez ID:2034; OMIM: 603349; Uniprot ID:EPAS1_HUMAN; ENSEMBL ID: ENSG00000116016; HGNC ID: 3374
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
4054-hydroxyproline (By similarity).
5314-hydroxyproline (By similarity).
840Phosphothreonine (By similarity).
847(3S)-3-hydroxyasparagine (By similarity).
Location(AA) Modifications Resource
4054-hydroxyproline (By similarity).Swiss-Prot 53.0
5314-hydroxyproline (By similarity).Swiss-Prot 53.0
840Phosphothreonine (By similarity).Swiss-Prot 53.0
8473-hydroxyasparagine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
11Phosphoserine(CK1)HMM predict
11Phosphoserine(PKA)HMM predict
28Phosphoserine(PKG)HMM predict
46Phosphoserine(IKK)HMM predict
48Phosphoserine(CK2)HMM predict
151N-linkedHMM predict
163Phosphoserine(CK1)HMM predict
214Phosphotyrosine(Syk)HMM predict
249Phosphoserine(CAMK2)HMM predict
288N-linkedHMM predict
427Phosphotyrosine(EGFR)HMM predict
427Phosphotyrosine(INSR)HMM predict
435Phosphoserine(ATM)HMM predict
467O-linkedHMM predict
467Phosphoserine(IKK)HMM predict
468O-linkedHMM predict
469Phosphothreonine(CDK)HMM predict
469Phosphothreonine(MAPK)HMM predict
469O-linkedHMM predict
471Phosphoserine(IKK)HMM predict
474Phosphoserine(CK2)HMM predict
474Phosphoserine(CK1)HMM predict
478Phosphoserine(IKK)HMM predict
481Phosphothreonine(CDC2)HMM predict
488SulfotyrosineHMM predict
489SulfotyrosineHMM predict
489Phosphotyrosine(Syk)HMM predict
491Phosphoserine(CK2)HMM predict
532Phosphotyrosine(Jak)HMM predict
532Phosphotyrosine(INSR)HMM predict
581Phosphoserine(MAPK)HMM predict
616Phosphoserine(PKA)HMM predict
620S-palmitoylHMM predict
621S-palmitoylHMM predict
626Phosphothreonine(CDK)HMM predict
626Phosphothreonine(MAPK)HMM predict
672O-linkedHMM predict
723Phosphoserine(ATM)HMM predict
747Phosphoserine(IKK)HMM predict
787O-linkedHMM predict
790Phosphoserine(CDC2)HMM predict
808Phosphotyrosine(Syk)HMM predict
842Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001430
  • Location:chr2 46378066-46467338
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46374918 46375179 261 3018
CTCF CD4SISSRdata 46374918 46375179 261 3018
CTCF HelaGSE12889 46374923 46375092 169 3059
CTCF G2GSE9613 46366857 46367349 492 10964
CTCF G2GSE9613 46374454 46375280 826 3200
CTCF G2GSE9613 46376900 46378579 1679 327
Nanog hESGSE18292 46366787 46366940 153 11203
TFAP2C MCF7GSE21234 46367352 46367772 420 10505
hScc1 BcellGSE12603 46367051 46367274 223 10904
hScc1 BcellGSE12603 46377479 46378542 1063 56
hScc1 G2GSE9613 46374454 46375280 826 3200
p130 shRbSenescentGSE19898 46377400 46377599 199 567
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 46473280 46473542 262 6073
CTCF G2GSE9613 46486349 46486741 392 19207
KLF4 hESGSE17917 46474499 46474779 280 7301
Oct4 hESGSE17917 46474506 46474780 274 7305
TFAP2C MCF7GSE21234 46484635 46485282 647 17620
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46418350 46418609 259 0
CTCF CD4SISSRdata 46418350 46418609 259 0
CTCF G2GSE9613 46378967 46379991 1024 0
CTCF G2GSE9613 46395955 46396170 215 0
CTCF G2GSE9613 46408404 46408659 255 0
CTCF G2GSE9613 46418405 46418578 173 0
CTCF G2GSE9613 46420876 46421049 173 0
CTCF G2GSE9613 46433339 46433559 220 0
CTCF G2GSE9613 46441267 46441756 489 0
CTCF G2GSE9613 46445498 46445874 376 0
CTCF G2GSE9613 46446876 46447456 580 0
CTCF G2GSE9613 46462438 46462698 260 0
CTCF G2GSE9613 46464428 46464626 198 0
FOXA1 MCF7GSE15244 46387037 46387397 360 0
FOXA1 MCF7GSE15244 46387831 46388277 446 0
FOXA1 MCF7GSE15244 46389606 46390454 848 0
FOXA1 MCF7GSE15244 46395808 46396242 434 0
Fos K562GSE19551 46405828 46406516 688 0
Gata2 K562GSE18868 46420296 46421325 1029 0
H3K4me3 colorectalcancer 46379991 46380862 871 0
H3ac HepG2E 46378646 46379249 603 0
H3ac HepG2E 46380033 46381790 1757 0
HIF1 NormHepG2 46406913 46407443 530 0
Myc K562GSE19551 46420352 46421148 796 0
Nanog hESGSE18292 46385348 46385549 201 0
Oct1 H2O2-HelaGSE14283 46404718 46404754 36 0
Oct1 HelaGSE14283 46404719 46404750 31 0
Oct1 HelaGSE14283 46420582 46420616 34 0
PAX3-FKHR Rh4GSE19063 46413263 46414380 1117 0
RARA MCF7GSE15244 46395573 46396278 705 0
Rb QuiescentGSE19898 46380336 46380705 369 0
Rb shRbSenescenceGSE19898 46380410 46380654 244 0
Rb shRbSenescenceGSE19898 46389380 46389550 170 0
TFAP2C MCF7GSE21234 46406774 46407263 489 0
USF1 HepG2E 46405049 46407443 2394 0
USF1 HepG2E 46407857 46410025 2168 0
USF2 HepG2E 46387795 46388277 482 0
USF2 HepG2E 46405822 46407443 1621 0
hScc1 BcellGSE12603 46379207 46379689 482 0
hScc1 CdLSGSE12603 46444884 46446033 1149 0
hScc1 G2GSE9613 46377115 46381337 4222 0
hScc1 G2GSE9613 46445498 46445959 461 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7i hsa-let-7i 12 20964835
hsa-let-7i hsa-let-7i 12 20964835
hsa-let-7i* hsa-let-7i 12 20964835
hsa-let-7i* hsa-let-7i 12 20964835
hsa-miR-148a hsa-mir-148a 7 21081659
hsa-miR-148a hsa-mir-148a 7 21081659
hsa-miR-148a* hsa-mir-148a 7 21081659
hsa-miR-148a* hsa-mir-148a 7 21081659
hsa-miR-155 hsa-mir-155 21 20964835
hsa-miR-155 hsa-mir-155 21 20964835
hsa-miR-155* hsa-mir-155 21 20964835
hsa-miR-155* hsa-mir-155 21 20964835
hsa-miR-17 hsa-mir-17 13 20964835
hsa-miR-17 hsa-mir-17 13 20964835
hsa-miR-17* hsa-mir-17 13 20964835
hsa-miR-17* hsa-mir-17 13 20964835
hsa-miR-20b hsa-mir-20b X 21081659
hsa-miR-20b hsa-mir-20b X 21081659
hsa-miR-20b* hsa-mir-20b X 21081659
hsa-miR-20b* hsa-mir-20b X 21081659
hsa-miR-21 hsa-mir-21 17 20964835
hsa-miR-21 hsa-mir-21 17 20964835
hsa-miR-21* hsa-mir-21 17 20964835
hsa-miR-21* hsa-mir-21 17 20964835
hsa-miR-210 hsa-mir-210 11 20964835
hsa-miR-210 hsa-mir-210 11 20964835
hsa-miR-92a hsa-mir-92a-1 13 20964835
hsa-miR-92a hsa-mir-92a-2 X 20964835
hsa-miR-92a hsa-mir-92a-1 13 20964835
hsa-miR-92a hsa-mir-92a-2 X 20964835
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved