Annotation Detail for AASDHPPT

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Basic Information Top

Gene Symbol:	AASDHPPT ( AASD-PPT,DKFZp566E2346,LYS2,LYS5 )
Gene Full Name:	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
Band:	11q22.3
Quick Links	Entrez ID:60496; OMIM: 607756; Uniprot ID:ADPPT_HUMAN; ENSEMBL ID: ENSG00000149313; HGNC ID: 14235
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:8 results

Location(AA)	Modification
258	Phosphoserine.

Location(AA)	Modification	Resource
108	N-linked	HMM predict
140	Phosphoserine(PKG)	HMM predict
258	Phosphoserine(CK1)	HMM predict
258	Phosphoserine(ATM)	HMM predict
262	Phosphoserine(CK1)	HMM predict
262	Phosphoserine(IKK)	HMM predict
285	Phosphothreonine(CDC2)	HMM predict
285	Phosphothreonine(CDK)	HMM predict

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

RefSeq ID: NM_015423
Location:chr11 105453501-105474628
strand:+

Upstream the gene:1 results
Downstream the gene:0 results
Inside the gene:10 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
PHF8	293T	GSE20725	105452559	105454390	1831	27

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3ac	HepG2	E	105453707	105454497	790	0
Oct1	Hela	GSE14283	105466814	105466842	28	0
PHF8	HeLa	GSE20725	105453396	105454437	1041	0
TAF	Hela	GSE8489	105453783	105454471	688	0
TAF	k562	GSE8489	105453887	105454645	758	0
hScc1	Bcell	GSE12603	105463767	105464290	523	0
hScc1	CdLS	GSE12603	105463550	105464258	708	0
hScc1	G2	GSE9613	105463767	105464146	379	0
p130	shRbQuiescent	GSE19898	105453301	105453893	592	0
p130	shRbSenescent	GSE19898	105453509	105453994	485	0

Validated miRNA targets

miR Walk:2 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-1274a	hsa-mir-1274a	0	20818168
hsa-miR-1274b	hsa-mir-1274b	19	20818168

Cis-Nats regulation

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
5133	mRNA	AASDHPPT	chr11	105453501	105474629	174	EST		chr11	105452443	105453675	Sense/Antisense (SA) pairs

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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