AutismKB 2.0

Annotation Detail for APBA1


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Basic Information Top
Gene Symbol:APBA1 ( D9S411E,MINT1,X11,X11A,X11ALPHA )
Gene Full Name: amyloid beta (A4) precursor protein-binding, family A, member 1
Band: 9q21.12
Quick LinksEntrez ID:320; OMIM: 602414; Uniprot ID:APBA1_HUMAN; ENSEMBL ID: ENSG00000107282; HGNC ID: 578
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
263Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
24Phosphoserine(CK2)HMM predict
80Phosphoserine(PKB)HMM predict
87N-linkedHMM predict
118Phosphotyrosine(INSR)HMM predict
118Phosphotyrosine(Syk)HMM predict
129SulfotyrosineHMM predict
129Phosphotyrosine(Syk)HMM predict
183Phosphotyrosine(SRC)HMM predict
183Phosphotyrosine(INSR)HMM predict
183Phosphotyrosine(Syk)HMM predict
183Phosphotyrosine(Jak)HMM predict
187Phosphotyrosine(Syk)HMM predict
190SulfotyrosineHMM predict
198Phosphotyrosine(Syk)HMM predict
198Phosphotyrosine(SRC)HMM predict
248Phosphoserine(ATM)HMM predict
248Phosphoserine(CDC2)HMM predict
280Phosphoserine(PKG)HMM predict
280Phosphoserine(IKK)HMM predict
283Phosphoserine(ATM)HMM predict
313Phosphoserine(IKK)HMM predict
364Phosphothreonine(PKC)HMM predict
367Phosphoserine(CDC2)HMM predict
403Phosphoserine(MAPK)HMM predict
403Phosphoserine(ATM)HMM predict
403Phosphoserine(IKK)HMM predict
408Phosphoserine(CDC2)HMM predict
408Phosphoserine(CDK)HMM predict
416Phosphoserine(CK1)HMM predict
416O-linkedHMM predict
418O-linkedHMM predict
422Phosphoserine(ATM)HMM predict
436Phosphoserine(PKA)HMM predict
436Phosphoserine(PKG)HMM predict
476Phosphothreonine(CDC2)HMM predict
546Phosphoserine(CAMK2)HMM predict
568Phosphoserine(IKK)HMM predict
568Phosphoserine(CK1)HMM predict
578Phosphoserine(ATM)HMM predict
627Phosphoserine(CK1)HMM predict
631Phosphotyrosine(Syk)HMM predict
710N-linkedHMM predict
720Phosphoserine(IKK)HMM predict
731N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001163
  • Location:chr9 71235021-71477041
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 71477681 71477887 206 743
CTCF CD4SISSRdata 71477681 71477887 206 743
Rb QuiescentGSE19898 71477387 71477838 451 571
Rb SenescentGSE19898 71477281 71477925 644 562
hScc1 BcellGSE12603 71477557 71478023 466 749
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 71226912 71227241 329 7945
CTCF CD4SISSRdata 71226912 71227241 329 7945
hScc1 BcellGSE12603 71226825 71227505 680 7857
hScc1 CdLSGSE12603 71226787 71227505 718 7876
hScc1 G2GSE9613 71226825 71227505 680 7857
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 71354240 71354495 255 0
CTCF CD4SISSRdata 71354240 71354495 255 0
ER E2-MCF7GSE14664 71298011 71298097 86 0
ER E2-MCF7GSE14664 71390792 71390838 46 0
FOXA1 MCF7GSE15244 71281476 71281818 342 0
FOXA1 MCF7GSE15244 71398663 71399374 711 0
FoxA1 MCF7MACSdata 71399057 71399246 189 0
KLF4 hESGSE17917 71465616 71465786 170 0
Nanog hESGSE18292 71281632 71281878 246 0
Nanog hESGSE18292 71471938 71472476 538 0
Oct1 H2O2-HelaGSE14283 71266951 71267003 52 0
Oct1 H2O2-HelaGSE14283 71304359 71304389 30 0
Oct1 H2O2-HelaGSE14283 71358166 71358211 45 0
Oct1 H2O2-HelaGSE14283 71382558 71382589 31 0
Oct1 HelaGSE14283 71266959 71267008 49 0
Oct1 HelaGSE14283 71304359 71304389 30 0
Oct1 HelaGSE14283 71338191 71338219 28 0
Oct1 HelaGSE14283 71358168 71358210 42 0
Oct1 HelaGSE14283 71382558 71382602 44 0
Oct1 HelaGSE14283 71401533 71401563 30 0
Oct1 HelaGSE14283 71419067 71419100 33 0
RNAII Tamoxifen-MCF7GSE14664 71309613 71309701 88 0
RNAII Tamoxifen-MCF7GSE14664 71358169 71358229 60 0
RNAII Tamoxifen-MCF7GSE14664 71361385 71361480 95 0
Rb GrowingGSE19898 71254134 71254238 104 0
hScc1 BcellGSE12603 71259790 71260035 245 0
hScc1 BcellGSE12603 71353964 71354613 649 0
hScc1 BcellGSE12603 71476468 71477313 845 0
hScc1 CdLSGSE12603 71353895 71354613 718 0
hScc1 G2GSE9613 71353862 71354581 719 0
p63 keratinocytesGSE17611 71309666 71310416 750 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
26562 EST chr9 69316935 69338983 22048 mRNA APBA1 chr9 69274755 69516776 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


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