AutismKB 2.0

Annotation Detail for AMBRA1


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Basic Information Top
Gene Symbol:AMBRA1 ( DCAF3,FLJ20294,KIAA1736,MGC33725,WDR94 )
Gene Full Name: autophagy/beclin-1 regulator 1
Band: 11p11.2
Quick LinksEntrez ID:55626; OMIM: 611359; Uniprot ID:AMRA1_HUMAN; ENSEMBL ID: ENSG00000110497; HGNC ID: 25990
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
639Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017749
  • Location:chr11 46374539-46569489
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 46573364 46574113 749 4249
ETS1 JurkatGSE17954 46571684 46572665 981 2685
FOXA1 MCF7GSE15244 46571187 46571581 394 1895
FOXA1 MCF7GSE15244 46572014 46572710 696 2873
H3K4me2 HCT116GSE10453 46570907 46571738 831 1833
H3K4me3 colorectalcancer 46570907 46571738 831 1833
H3ac HepG2E 46570372 46570565 193 979
H3ac HepG2E 46570907 46573016 2109 2472
Myc K562GSE19551 46571941 46572495 554 2729
PHF8 293TGSE20725 46571530 46572621 1091 2586
RARA MCF7GSE15244 46570943 46571581 638 1773
RARA MCF7GSE15244 46572120 46572857 737 2999
RARG MCF7GSE15244 46571153 46571581 428 1878
RARG MCF7GSE15244 46572230 46572782 552 3017
TAF HelaGSE8489 46570907 46572967 2060 2448
p130 shRbQuiescentGSE19898 46572330 46572798 468 3075
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF JurkatGSE13047 46369637 46372063 2426 3690
NRSF mAbJurkat 46370945 46371958 1013 3088
NRSF mAbJurkat 46372468 46372741 273 1935
NRSF-mono JurkatQuESTdata 46369853 46372121 2268 3553
NRSF pAbJurkat 46370900 46372059 1159 3060
NRSF-poly JurkatQuESTdata 46369258 46371788 2530 4017
Rb SenescentGSE19898 46370700 46371171 471 3604
hScc1 BcellGSE12603 46369248 46370827 1579 4502
hScc1 CdLSGSE12603 46370069 46371193 1124 3909
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 46468170 46468347 177 0
CTCF CD4GSE12889 46507496 46507718 222 0
CTCF CD4GSE12889 46515906 46516287 381 0
CTCF CD4SISSRdata 46468170 46468347 177 0
CTCF CD4SISSRdata 46507496 46507718 222 0
CTCF CD4SISSRdata 46515906 46516287 381 0
CTCF JurkatGSE12889 46468142 46468491 349 0
CTCF JurkatGSE12889 46507374 46507812 438 0
ER E2-MCF7GSE14664 46539659 46539694 35 0
ER Fulvestrant-MCF7GSE14664 46544501 46544533 32 0
ER MCF7GSE19013 46467428 46468258 830 0
FOXA1 DLD1GSE12801 46391925 46392260 335 0
FOXA1 DLD1GSE12801 46497464 46497904 440 0
FOXA1 MCF7GSE15244 46391450 46391579 129 0
FOXA1 MCF7GSE15244 46391925 46392588 663 0
FOXA1 MCF7GSE15244 46400646 46401124 478 0
FOXA1 MCF7GSE15244 46532266 46533229 963 0
Fos K562GSE19551 46532224 46532892 668 0
GATA3 MCF7GSE15244 46399597 46401230 1633 0
GATA3 MCF7GSE15244 46467622 46467801 179 0
GATA3 MCF7GSE15244 46520274 46520878 604 0
GATA3 MCF7GSE15244 46531917 46533041 1124 0
H3ac HepG2E 46406922 46407485 563 0
H3ac HepG2E 46531917 46532266 349 0
H3ac HepG2E 46568789 46569664 875 0
KLF4 hESGSE17917 46523191 46523352 161 0
Myc K562GSE19551 46405546 46405922 376 0
Myc K562GSE19551 46535804 46536362 558 0
Myc hESGSE17917 46388246 46388538 292 0
Nanog ESGSE20650 46405501 46406066 565 0
Nanog hESGSE18292 46414301 46414655 354 0
Nanog hESGSE18292 46442663 46442980 317 0
Nanog hESGSE18292 46501547 46501724 177 0
Nanog hESGSE18292 46515835 46516576 741 0
Oct1 H2O2-HelaGSE14283 46398919 46398954 35 0
Oct1 H2O2-HelaGSE14283 46414278 46414312 34 0
Oct1 H2O2-HelaGSE14283 46484397 46484452 55 0
Oct1 HelaGSE14283 46412196 46412231 35 0
Oct1 HelaGSE14283 46484397 46484446 49 0
Oct1 HelaGSE14283 46539654 46539692 38 0
Oct1 HelaGSE14283 46544492 46544533 41 0
P300 T30-glioblastomaGSE21026 46483099 46484013 914 0
P300 T30-glioblastomaGSE21026 46531925 46533085 1160 0
RARA MCF7GSE15244 46391333 46391579 246 0
RARA MCF7GSE15244 46391925 46392364 439 0
RARA MCF7GSE15244 46394337 46395153 816 0
RARA MCF7GSE15244 46400358 46401230 872 0
RARA MCF7GSE15244 46429189 46429616 427 0
RARA MCF7GSE15244 46525266 46526807 1541 0
RARA MCF7GSE15244 46531917 46533670 1753 0
RARA MCF7GSE15244 46538645 46539091 446 0
RARA MCF7GSE15244 46569079 46569664 585 0
RARG MCF7GSE15244 46391333 46391579 246 0
RARG MCF7GSE15244 46398096 46398447 351 0
RARG MCF7GSE15244 46399894 46401124 1230 0
RARG MCF7GSE15244 46531917 46533341 1424 0
RARG MCF7GSE15244 46569079 46569487 408 0
RNAII Tamoxifen-MCF7GSE14664 46484402 46484446 44 0
RNAII Tamoxifen-MCF7GSE14664 46539657 46539693 36 0
RNAII Tamoxifen-MCF7GSE14664 46544477 46544534 57 0
Sox2 hESGSE18292 46442731 46442921 190 0
Sox2 hESGSE18292 46516150 46516482 332 0
TAF HelaGSE8489 46407066 46407570 504 0
TAF HelaGSE8489 46486325 46486813 488 0
TAF HelaGSE8489 46531917 46533670 1753 0
TAF HelaGSE8489 46557038 46557271 233 0
USF2 HepG2E 46531917 46533065 1148 0
hScc1 BcellGSE12603 46406607 46407321 714 0
hScc1 BcellGSE12603 46515696 46516315 619 0
hScc1 CdLSGSE12603 46468233 46468451 218 0
hScc1 CdLSGSE12603 46500475 46500905 430 0
hScc1 CdLSGSE12603 46506990 46507940 950 0
hScc1 CdLSGSE12603 46515446 46516533 1087 0
hScc1 G2GSE9613 46515658 46516278 620 0
p130 SenescentGSE19898 46457817 46457993 176 0
p63 keratinocytesGSE17611 46388588 46389166 578 0
p63 keratinocytesGSE17611 46435638 46436517 879 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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