AutismKB 2.0

Annotation Detail for CBFA2T3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CBFA2T3 ( ETO2,MTG16,MTGR2,ZMYND4 )
Gene Full Name: core-binding factor, runt domain, alpha subunit 2; translocated to, 3
Band: 16q24.3
Quick LinksEntrez ID:863; OMIM: 603870; Uniprot ID:MTG16_HUMAN; ENSEMBL ID: ENSG00000129993; HGNC ID: 1537
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
337Phosphothreonine.
459Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005187
  • Location:chr16 87468767-87570901
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 87571503 87573992 2489 1846
CBP JurkatGSE17954 87584424 87588903 4479 15762
CTCF G2GSE9613 87572569 87572901 332 1834
CTCF G2GSE9613 87583137 87583781 644 12558
Gata1 K562GSE18868 87572766 87573223 457 2093
Gata1 K562GSE18868 87585993 87587105 1112 15648
Gata2 K562GSE18868 87572453 87573394 941 2022
Gata2 K562GSE18868 87585587 87587651 2064 15718
NFkBII GM12878GSE19485 87577145 87578545 1400 6944
NFkBII GM12892GSE19485 87577219 87578516 1297 6966
NFkBII GM15510GSE19485 87577209 87578290 1081 6848
Oct1 H2O2-HelaGSE14283 87576494 87576524 30 5608
Oct1 H2O2-HelaGSE14283 87590875 87590913 38 19993
Oct1 HelaGSE14283 87576495 87576535 40 5614
Oct1 HelaGSE14283 87590882 87590913 31 19996
TFAP2C MCF7GSE21234 87570928 87571711 783 418
hScc1 BcellGSE12603 87577364 87577782 418 6672
hScc1 BcellGSE12603 87585649 87585964 315 14905
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 87535491 87538214 2723 0
CBP JurkatGSE17954 87554695 87558527 3832 0
CBP JurkatGSE17954 87561259 87563266 2007 0
CTCF CD4GSE12889 87535796 87535986 190 0
CTCF CD4SISSRdata 87535796 87535986 190 0
CTCF G2GSE9613 87542192 87542417 225 0
CTCF G2GSE9613 87548444 87549716 1272 0
CTCF G2GSE9613 87567438 87567783 345 0
ER MCF7GSE19013 87568889 87569346 457 0
NFkBII GM10847GSE19485 87561444 87563894 2450 0
NFkBII GM10847GSE19485 87565124 87567373 2249 0
NFkBII GM12878GSE19485 87565069 87566570 1501 0
NFkBII GM12892GSE19485 87565162 87573726 8564 0
NFkBII GM15510GSE19485 87561506 87563774 2268 0
NFkBII GM15510GSE19485 87565134 87566297 1163 0
NFkBII GM18505GSE19485 87561577 87563671 2094 0
NFkBII GM18505GSE19485 87565460 87566473 1013 0
NFkBII GM18526GSE19485 87561404 87563644 2240 0
NFkBII GM18526GSE19485 87565193 87566590 1397 0
NRSF pAbJurkat 87544054 87545240 1186 0
Oct1 H2O2-HelaGSE14283 87536333 87536371 38 0
Oct1 H2O2-HelaGSE14283 87563486 87563516 30 0
Oct1 HelaGSE14283 87536300 87536371 71 0
Oct1 HelaGSE14283 87540850 87540895 45 0
Oct1 HelaGSE14283 87563474 87563516 42 0
VDR GM10861-UnstimGSE22484 87565175 87566620 1445 0
VDR GM10861-stimGSE22484 87558925 87560290 1365 0
VDR GM10861-stimGSE22484 87565355 87566473 1118 0
hScc1 BcellGSE12603 87535626 87536891 1265 0
hScc1 BcellGSE12603 87538283 87538534 251 0
hScc1 BcellGSE12603 87542192 87542487 295 0
hScc1 BcellGSE12603 87544260 87544920 660 0
hScc1 BcellGSE12603 87548080 87549947 1867 0
hScc1 BcellGSE12603 87556166 87556604 438 0
hScc1 BcellGSE12603 87565332 87565980 648 0
hScc1 BcellGSE12603 87569076 87569647 571 0
hScc1 CdLSGSE12603 87535626 87536352 726 0
hScc1 G2GSE9613 87548290 87549914 1624 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
10394 mRNA chr16 87534049 87545433 11384 mRNA CBFA2T3 chr16 87468767 87570902 Non-exonic Bidirectional (NOB) pairs

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