Annotation Detail for MAZ

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	MAZ ( PUR1,Pur-1,SAF-1,SAF-2,SAF-3,ZF87,ZNF801,Zif87 )
Gene Full Name:	MYC-associated zinc finger protein (purine-binding transcription factor)
Band:	16p11.2
Quick Links	Entrez ID:4150; OMIM: 600999; Uniprot ID:MAZ_HUMAN; ENSEMBL ID: ENSG00000103495; HGNC ID: 6914
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:2 results
Predicted PTM Sites by profile HMM from dbPTM:21 results

No data

Location(AA)	Modification	Resource
120	O-linked	HMM predict
124	O-linked	HMM predict
141	O-linked	HMM predict
141	O-linked	HMM predict
152	O-linked	HMM predict
152	O-linked	HMM predict
155	O-linked	HMM predict
155	O-linked	HMM predict
169	O-linked	HMM predict
169	O-linked	HMM predict
169	O-linked	HMM predict
170	O-linked	HMM predict
190	Phosphotyrosine(Jak)	HMM predict
242	O-linked	HMM predict
267	O-linked	HMM predict
302	Phosphoserine(ATM)	HMM predict
338	N-linked	HMM predict
385	Phosphothreonine(PKC)	HMM predict
460	O-linked	HMM predict
468	O-linked	HMM predict
469	O-linked	HMM predict

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

RefSeq ID: NM_001042539
Location:chr16 29725355-29730002
strand:+

Upstream the gene:0 results
Downstream the gene:0 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	29726189	29727072	883	0
H3ac	HepG2	E	29726881	29727857	976	0
VDR	GM10861-stim	GSE22484	29728817	29730890	2073	0
hScc1	Bcell	GSE12603	29726153	29726768	615	0
hScc1	CdLS	GSE12603	29726294	29727292	998	0
p130	Quiescent	GSE19898	29729789	29730144	355	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
9809	mRNA	MAZ	chr16	29725324	29729206	93	EST		chr16	29727470	29728529	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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