AutismKB 2.0

Annotation Detail for APP


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Basic Information Top
Gene Symbol:APP ( AAA,ABETA,ABPP,AD1,APPI,CTFgamma,CVAP,PN2 )
Gene Full Name: amyloid beta (A4) precursor protein
Band: 21q21.3
Quick LinksEntrez ID:351; OMIM: 104760; Uniprot ID:A4_HUMAN; ENSEMBL ID: ENSG00000142192; HGNC ID: 620
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
198Phosphoserine; by CK2.
206Phosphoserine; by CK1.
542N-linked (GlcNAc...).
571N-linked (GlcNAc...) (Probable).
656O-linked (Xyl...) (chondroitin sulfate);
729Phosphothreonine (By similarity).
730Phosphoserine; by APP-kinase I (By
734Basolateral sorting signal.
743Phosphothreonine; by CDK5 and MAPK10.
757Phosphotyrosine.
762Phosphotyrosine.
762NPXY motif; contains endocytosis signal.
Location(AA) Modifications Resource
198Phosphoserine (by CK2).Swiss-Prot 53.0
206Phosphoserine (by CK1).Swiss-Prot 53.0
542N-linked (GlcNAc...).Swiss-Prot 53.0
571N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
656O-linked (Xyl...) (chondroitin sulfate);in L-APP isoforms.Swiss-Prot 53.0
729Phosphothreonine (By similarity).Swiss-Prot 53.0
730Phosphoserine (by APP-kinase I) (Bysimilarity).Swiss-Prot 53.0
743Phosphothreonine (by CDK5 and MAPK10).Swiss-Prot 53.0
743Phosphothreonine (GSK-3beta)Phospho.ELM 6.0
757Phosphotyrosine (By similarity).Swiss-Prot 53.0
757PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
168SulfotyrosineHMM predict
206Phosphoserine(CK1)HMM predict
217Phosphotyrosine(INSR)HMM predict
217Phosphotyrosine(Syk)HMM predict
217SulfotyrosineHMM predict
262Phosphotyrosine(EGFR)HMM predict
262Phosphotyrosine(SRC)HMM predict
262Phosphotyrosine(Syk)HMM predict
270O-linkedHMM predict
271O-linkedHMM predict
271O-linkedHMM predict
271Phosphoserine(IKK)HMM predict
274O-linkedHMM predict
276O-linkedHMM predict
277O-linkedHMM predict
278O-linkedHMM predict
279O-linkedHMM predict
366Phosphothreonine(PKC)HMM predict
366O-linkedHMM predict
371Phosphothreonine(MAPK)HMM predict
381Phosphothreonine(MAPK)HMM predict
441Phosphoserine(CK1)HMM predict
508Phosphothreonine(PKC)HMM predict
573Phosphoserine(CK2)HMM predict
651Phosphothreonine(PKC)HMM predict
656Phosphoserine(IKK)HMM predict
728Phosphotyrosine(INSR)HMM predict
743Phosphothreonine(MAPK)HMM predict
743Phosphothreonine(CDC2)HMM predict
743Phosphothreonine(CDK)HMM predict
757Phosphotyrosine(INSR)HMM predict
757Phosphotyrosine(Jak)HMM predict
757Phosphotyrosine(Syk)HMM predict
757TyrosineHMM predict
759N-linkedHMM predict
762Phosphotyrosine(SRC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000484
  • Location:chr21 26174732-26465002
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 26464624 26465456 832 38
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26156776 26156998 222 17846
CTCF CD4SISSRdata 26156776 26156998 222 17846
CTCF G2GSE9613 26156711 26156969 258 17893
hScc1 BcellGSE12603 26156711 26157085 374 17835
hScc1 CdLSGSE12603 26156711 26157117 406 17819
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26175985 26176259 274 0
CTCF CD4SISSRdata 26175985 26176259 274 0
CTCF G2GSE9613 26175712 26176388 676 0
CTCF G2GSE9613 26464587 26465300 713 0
ER MCF7GSE19013 26257417 26257830 413 0
FOXA1 MCF7GSE15244 26228935 26229292 357 0
FOXA1 MCF7GSE15244 26316870 26317334 464 0
FOXA1 MCF7GSE15244 26349813 26350181 368 0
FOXA1 MCF7GSE15244 26365095 26365488 393 0
FOXA1 MCF7GSE15244 26420121 26420738 617 0
FOXA1 MCF7GSE15244 26434111 26434812 701 0
FoxA1 MCF7MACSdata 26317198 26317335 137 0
FoxA1 MCF7MACSdata 26434318 26434633 315 0
FoxA1 MCF7MACSdata 26443217 26443464 247 0
H3K4me3 colorectalcancer 26463029 26463428 399 0
H3ac HepG2E 26463064 26463728 664 0
Myc K562GSE19551 26176084 26176249 165 0
Myc K562GSE19551 26393887 26394250 363 0
Myc hESGSE17917 26464662 26465133 471 0
Nanog hESGSE18292 26387308 26387792 484 0
Oct4 hESGSE17917 26311042 26311188 146 0
Oct4 hESGSE17917 26442396 26442713 317 0
Oct4 hESGSE21916 26254575 26255156 581 0
P300 T0-glioblastomaGSE21026 26228962 26229862 900 0
P300 T30-glioblastomaGSE21026 26228593 26229653 1060 0
P300 T30-glioblastomaGSE21026 26434123 26434898 775 0
PAX3-FKHR Rh4GSE19063 26250713 26252231 1518 0
PAX3-FKHR Rh4GSE19063 26301689 26303041 1352 0
PHF8 HeLaGSE20725 26463616 26465389 1773 0
RARA MCF7GSE15244 26316870 26317334 464 0
RARA MCF7GSE15244 26418722 26419332 610 0
RARA MCF7GSE15244 26434111 26435032 921 0
RARA MCF7GSE15244 26442242 26443497 1255 0
RARG MCF7GSE15244 26316870 26317334 464 0
RARG MCF7GSE15244 26418652 26419261 609 0
RARG MCF7GSE15244 26434111 26434847 736 0
RARG MCF7GSE15244 26442242 26443342 1100 0
Rb shRbQuiescentGSE19898 26393904 26394122 218 0
TFAP2C MCF7GSE21234 26316838 26317496 658 0
TFAP2C MCF7GSE21234 26393938 26394162 224 0
hScc1 BcellGSE12603 26175856 26176423 567 0
hScc1 BcellGSE12603 26190091 26190416 325 0
hScc1 BcellGSE12603 26436261 26436579 318 0
hScc1 CdLSGSE12603 26175821 26176519 698 0
hScc1 CdLSGSE12603 26189978 26190520 542 0
hScc1 CdLSGSE12603 26463064 26465411 2347 0
hScc1 G2GSE9613 26175892 26176316 424 0
hScc1 G2GSE9613 26464349 26465050 701 0
p130 SenescentGSE19898 26418613 26418896 283 0
p63 keratinocytesGSE17611 26274666 26275549 883 0
p63 keratinocytesGSE17611 26414971 26415737 766 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-101 hsa-mir-101-1 1 20395292
hsa-miR-101 hsa-mir-101-2 9 20395292
hsa-miR-106a hsa-mir-106a X 18684319
hsa-miR-106a* hsa-mir-106a X 18684319
hsa-miR-106b hsa-mir-106b 7 19110058
hsa-miR-106b* hsa-mir-106b 7 19110058
hsa-miR-20a hsa-mir-20a 13 19110058
hsa-miR-20a hsa-mir-20a 13 20458444
hsa-miR-20a* hsa-mir-20a 13 19110058
hsa-miR-20a* hsa-mir-20a 13 20458444
hsa-miR-520c-3p hsa-mir-520c 19 18684319
No data
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
16783 EST chr21 26174731 26175342 610 mRNA APP chr21 26174732 26465003Sense/Antisense (SA) 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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