Annotation Detail for DFFA

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Basic Information Top

Gene Symbol:	DFFA ( DFF-45,DFF1,ICAD )
Gene Full Name:	DNA fragmentation factor, 45kDa, alpha polypeptide
Band:	1p36.22
Quick Links	Entrez ID:1676; OMIM: 601882; Uniprot ID:DFFA_HUMAN; ENSEMBL ID: ENSG00000160049; HGNC ID: 2772
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:4 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:8 results

Location(AA)	Modification
1	N-acetylmethionine.
257	Phosphoserine.
310	Phosphoserine.
315	Phosphoserine.

Location(AA)	Modification	Resource
26	N-linked	HMM predict
57	Phosphothreonine(MAPK)	HMM predict
97	N-linked	HMM predict
98	N-linked	HMM predict
232	Phosphoserine(CK1)	HMM predict
254	Phosphoserine(CK1)	HMM predict
312	O-linked	HMM predict
315	Phosphoserine(IKK)	HMM predict

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

RefSeq ID: NM_004401
Location:chr1 10443191-10455199
strand:-

Upstream the gene:6 results
Downstream the gene:2 results
Inside the gene:9 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	10454702	10455856	1154	80
H3ac	HepG2	E	10455185	10455828	643	307
Rb	Senescent	GSE19898	10454988	10455490	502	40
p130	Quiescent	GSE19898	10455234	10455502	268	169
p130	Senescent	GSE19898	10454912	10455661	749	87
p130	shRbSenescent	GSE19898	10454961	10455619	658	91

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Fos	K562	GSE19551	10441716	10442226	510	1221
p63	keratinocytes	GSE17611	10438987	10439957	970	3720

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me3	colorectal	cancer	10454523	10454847	324	0
H3ac	HepG2	E	10453917	10454952	1035	0
P300	T30-glioblastoma	GSE21026	10454594	10455731	1137	0
PHF8	293T	GSE20725	10454449	10455482	1033	0
USF1	HepG2	E	10453814	10455828	2014	0
USF2	HepG2	E	10453953	10455828	1875	0
hScc1	Bcell	GSE12603	10454627	10454998	371	0
p130	Quiescent	GSE19898	10454988	10455231	243	0
p130	Senescent	GSE19898	10454565	10454880	315	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-145	hsa-mir-145	5	20687965
hsa-miR-145*	hsa-mir-145	5	20687965

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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