Annotation Detail for ACER2

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Basic Information Top

Gene Symbol:	ACER2 ( ALKCDase2,ASAH3L,FLJ41587 )
Gene Full Name:	alkaline ceramidase 2
Band:	9p22.1
Quick Links	Entrez ID:340485; OMIM: 613492; Uniprot ID:ACER2_HUMAN; ENSEMBL ID: ENSG00000177076; HGNC ID: 23675
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:0 results

Location(AA)	Modification
23	N-linked (GlcNAc...) (Potential).

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

RefSeq ID: NM_001010887
Location:chr9 19398924-19442499
strand:+

Upstream the gene:4 results
Downstream the gene:15 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	19394430	19395118	688	4151
FoxA1	MCF7	MACSdata	19394602	19395061	459	4093
TFAP2C	MCF7	GSE21234	19394321	19395046	725	4241
p63	keratinocytes	GSE17611	19393984	19395161	1177	4352

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T0-glioblastoma	GSE21026	19451635	19452332	697	9484
CTCF	CD4	GSE12889	19447485	19447738	253	5112
CTCF	CD4	GSE12889	19461924	19462120	196	19523
CTCF	CD4	SISSRdata	19447485	19447738	253	5112
CTCF	CD4	SISSRdata	19461924	19462120	196	19523
CTCF	Jurkat	GSE12889	19447496	19447697	201	5097
Nanog	hES	GSE18292	19447459	19447743	284	5102
Oct4	hES	GSE17917	19447536	19447711	175	5124
TFAP2C	MCF7	GSE21234	19454810	19455310	500	12561
hScc1	Bcell	GSE12603	19447257	19447817	560	5038
hScc1	Bcell	GSE12603	19454805	19455215	410	12511
hScc1	Bcell	GSE12603	19461925	19462306	381	19616
hScc1	CdLS	GSE12603	19447188	19447817	629	5003
hScc1	CdLS	GSE12603	19461925	19462306	381	19616
hScc1	G2	GSE9613	19447366	19447817	451	5092

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ER	MCF7	GSE19013	19399253	19399842	589	0
Nanog	hES	GSE18292	19436511	19436807	296	0
Oct1	H2O2-Hela	GSE14283	19435477	19435516	39	0
Oct1	Hela	GSE14283	19435477	19435515	38	0
Sox2	hES	GSE18292	19436501	19437011	510	0
TFAP2C	MCF7	GSE21234	19398745	19399231	486	0

Validated miRNA targets

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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