Annotation Detail for ETHE1

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Basic Information Top

Gene Symbol:	ETHE1 ( HSCO,YF13H12 )
Gene Full Name:	ethylmalonic encephalopathy 1
Band:	19q13.31
Quick Links	Entrez ID:23474; OMIM: 608451; Uniprot ID:ETHE1_HUMAN; ENSEMBL ID: ENSG00000105755; HGNC ID: 23287
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:6 results

Location(AA)	Modification
14	Phosphoserine (By similarity).
66	N6-acetyllysine.
172	N6-acetyllysine.

Location(AA)	Modification	Resource
14	Phosphoserine(PKG)	HMM predict
132	O-linked	HMM predict
132	Phosphoserine(CDC2)	HMM predict
136	Phosphothreonine(MAPK)	HMM predict
216	Phosphothreonine(PKC)	HMM predict
252	Proline	HMM predict

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

RefSeq ID: NM_014297
Location:chr19 48702711-48723235
strand:-

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:13 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	48715465	48715745	280	0
CTCF	CD4	SISSRdata	48715465	48715745	280	0
CTCF	Jurkat	GSE12889	48715518	48715754	236	0
CTCF	G2	GSE9613	48715473	48715707	234	0
H3K4me2	HCT116	GSE10453	48721160	48721473	313	0
H3K4me3	colorectal	cancer	48721160	48721301	141	0
H3ac	HepG2	E	48721160	48723037	1877	0
Myc	K562	GSE19551	48715442	48715893	451	0
PHF8	HeLa	GSE20725	48722721	48723559	838	0
PolII	HeLa	GSE12783	48721136	48723706	2570	0
hScc1	Bcell	GSE12603	48715330	48715707	377	0
hScc1	Bcell	GSE12603	48722908	48723260	352	0
hScc1	CdLS	GSE12603	48715330	48715707	377	0

Validated miRNA targets

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
13293	mRNA	ZNF575	chr19	48721488	48732122	150	mRNA	ETHE1	chr19	48702711	48723236	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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