Annotation Detail for FLG2

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Basic Information Top

Gene Symbol:	FLG2 ( IFPS )
Gene Full Name:	filaggrin family member 2
Band:	1q21.3
Quick Links	Entrez ID:388698; OMIM: NA; Uniprot ID:FILA2_HUMAN; ENSEMBL ID: ENSG00000143520; HGNC ID: 33276
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:13 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
113	Phosphoserine (By similarity).
115	Phosphothreonine (By similarity).
169	Phosphoserine (By similarity).
1048	Phosphoserine (By similarity).
1112	Phosphoserine (By similarity).
1125	Phosphoserine (By similarity).
1504	Phosphoserine (By similarity).
1505	Phosphoserine (By similarity).
1732	Phosphoserine (By similarity).
2034	Phosphoserine (By similarity).
2040	Phosphoserine (By similarity).
2272	Phosphoserine (By similarity).
2281	Phosphoserine (By similarity).

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

RefSeq ID: NM_001014342
Location:chr1 150587842-150599105
strand:-

Upstream the gene:1 results
Downstream the gene:2 results
Inside the gene:5 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
p63	keratinocytes	GSE17611	150606081	150607077	996	7474

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	150586222	150586529	307	1467
CTCF	CD4	SISSRdata	150586222	150586529	307	1467

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
RARA	MCF7	GSE15244	150593359	150595843	2484	0
SRF	HepG2	GSE8489	150592581	150593175	594	0
hScc1	Bcell	GSE12603	150591215	150591578	363	0
hScc1	Bcell	GSE12603	150593322	150593679	357	0
hScc1	Bcell	GSE12603	150594332	150594692	360	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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