Annotation Detail for ACTL6B

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Basic Information Top

Gene Symbol:	ACTL6B ( ACTL6,BAF53B )
Gene Full Name:	actin-like 6B
Band:	7q22.1
Quick Links	Entrez ID:51412; OMIM: 612458; Uniprot ID:ACL6B_HUMAN; ENSEMBL ID: ENSG00000077080; HGNC ID: 160
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:0 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:12 results

No data

Location(AA)	Modification	Resource
126	Phosphothreonine(PKC)	HMM predict
250	Phosphotyrosine(INSR)	HMM predict
269	Phosphoserine(CDC2)	HMM predict
269	Phosphoserine(ATM)	HMM predict
271	Phosphotyrosine(Syk)	HMM predict
294	Sulfotyrosine	HMM predict
366	Phosphoserine(ATM)	HMM predict
369	Phosphothreonine(CDC2)	HMM predict
381	N-linked	HMM predict
413	Phosphotyrosine(INSR)	HMM predict
413	Phosphotyrosine(Syk)	HMM predict
420	S-farnesyl	HMM predict

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

RefSeq ID: NM_016188
Location:chr7 100078663-100091985
strand:-

Upstream the gene:5 results
Downstream the gene:0 results
Inside the gene:15 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Fos	K562	GSE19551	100091815	100092296	481	70
NRSF	mAb	Jurkat	100092630	100092959	329	809
Oct1	H2O2-Hela	GSE14283	100097058	100097085	27	5086
Oct1	Hela	GSE14283	100097038	100097103	65	5085
hScc1	CdLS	GSE12603	100096901	100097080	179	5005

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T0-glioblastoma	GSE21026	100088560	100088874	314	0
CTCF	G2	GSE9613	100090358	100090828	470	0
CTCF	G2	GSE9613	100091642	100092239	597	0
FoxA1	MCF7	MACSdata	100088667	100088790	123	0
H3K27me3	colorectal	cancer	100080895	100081171	276	0
NRSF	Jurkat	GSE13047	100091510	100092268	758	0
NRSF-mono	Jurkat	QuESTdata	100091506	100092299	793	0
NRSF-poly	Jurkat	QuESTdata	100091416	100092388	972	0
P300	T0-glioblastoma	GSE21026	100088398	100088953	555	0
P300	T30-glioblastoma	GSE21026	100088539	100089143	604	0
Rb	Growing	GSE19898	100091881	100092077	196	0
Rb	Quiescent	GSE19898	100091888	100092032	144	0
Rb	Senescent	GSE19898	100091737	100092119	382	0
hScc1	Bcell	GSE12603	100091209	100092101	892	0
hScc1	G2	GSE9613	100091613	100092239	626	0

Validated miRNA targets

miR Walk:6 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-124	hsa-mir-124-1	8	19561591
hsa-miR-124	hsa-mir-124-2	8	19561591
hsa-miR-124	hsa-mir-124-3	20	19561591
hsa-miR-9*	hsa-mir-9-1	1	19561591
hsa-miR-9*	hsa-mir-9-2	5	19561591
hsa-miR-9*	hsa-mir-9-3	15	19561591

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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