Annotation Detail for APOE

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Basic Information Top

Gene Symbol:	APOE ( AD2,LDLCQ5,LPG,MGC1571 )
Gene Full Name:	apolipoprotein E
Band:	19q13.32
Quick Links	Entrez ID:348; OMIM: 107741; Uniprot ID:APOE_HUMAN; ENSEMBL ID: ENSG00000130203; HGNC ID: 613
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:5 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:5 results

Location(AA)	Modification
93	N-linked (Glc) (glycation).
147	Phosphoserine.
212	O-linked (GalNAc...).
307	O-linked (GalNAc...).
308	O-linked (GalNAc...).

Location(AA)	Modification	Resource
72	Phosphoserine(ATM)	HMM predict
94	Phosphoserine(CK2)	HMM predict
112	Phosphoserine(PKG)	HMM predict
212	Phosphothreonine(PKC)	HMM predict
308	O-linked	HMM predict

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_000041
Location:chr19 50100878-50104488
strand:+

Upstream the gene:1 results
Downstream the gene:3 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	50100609	50100930	321	109

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
SRF	GMO	GSE8489	50105350	50105742	392	1058
hScc1	Bcell	GSE12603	50106250	50106480	230	1877
p63	keratinocytes	GSE17611	50105891	50106623	732	1769

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	50103557	50104346	789	0
H3ac	HepG2	E	50101009	50101642	633	0
USF1	HepG2	E	50101154	50101472	318	0
hScc1	Bcell	GSE12603	50102705	50103060	355	0

Validated miRNA targets

miR Walk:7 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-146a	hsa-mir-146a	5	21263019
hsa-miR-146a*	hsa-mir-146a	5	21263019
hsa-miR-192	hsa-mir-192	11	20393144
hsa-miR-192*	hsa-mir-192	11	20393144
hsa-miR-215	hsa-mir-215	1	20393144
hsa-miR-886-3p	hsa-mir-886	0	20413673
hsa-miR-886-5p	hsa-mir-886	0	20413673

Cis-Nats regulation

Simple Query:

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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