mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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	Gene Summary
	Ligand Binding Site Mutation Information
	Protein Structure Related Information
	Gene Expression and Gene-Gene Network
	Phenotype Information
	Pharmacological Information
	Conservation Information for LBS

Gene summary for ZFAT

Gene summary

Basic gene Info.	Gene symbol	ZFAT
	Gene name	zinc finger and AT hook domain containing
	Synonyms	AITD3\|ZFAT1\|ZNF406
	Cytomap	UCSC genome browser: 8q24.22
	Type of gene	protein-coding
	RefGenes	NM_001029939.3, NM_001167583.2,NM_001174157.1,NM_001174158.1,NM_001289394.1, NM_020863.3,NR_110323.1,
	Description	zinc finger gene in autoimmune thyroid diseasezinc finger protein 406zinc finger protein ZFATzinc-finger gene in AITD susceptibility region
	Modification date	20141207
dbXrefs	MIM : 610931
	HGNC : HGNC
	Ensembl : ENSG00000066827
	HPRD : 11712
	Vega : OTTHUMG00000164321
Protein	UniProt: Q9P243 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_ZFAT
	BioGPS: 57623
Pathway	NCI Pathway Interaction Database: ZFAT
	KEGG: ZFAT
	REACTOME: ZFAT
	Pathway Commons: ZFAT
Context	iHOP: ZFAT
	ligand binding site mutation search in PubMed: ZFAT
	UCL Cancer Institute: ZFAT
Assigned class in mutLBSgeneDB	C: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

GO ID

GO Term

PubMed ID

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Ligand binding site mutations for ZFAT

Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)

: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
H349	V348A	COAD	2
C775	Y777C	COAD	1
H349	V348E	COAD	1
H422	R421H	COAD	1
H788	H788R	HNSC	1
H853	N852I	HNSC	1
H931	T933S	OV	1
H788	V789I	SKCM	1
H853	H853Y	SKCM	1
H822	H822Y	SKCM	1
H426	D428G	STAD	1
C409	R411C	STAD	1
C331	Y330D	STAD	1
H372	I370M	STAD	1
C942	M941T	STAD	1
H788	R787H	STAD	1
H289	A288D	UCEC	1
C409	R411H	UCEC	1

cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.

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Protein structure related information for ZFAT

Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
(ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)

: nsSNV at non-LBS

: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.

LBS	AAchange of nsSNV	Relative stability change
H788	R787H	-1.8714567
H372	I370M	-1.693929
C942	M941T	-1.4526973
C409	R411H	-1.4319193
H349	V348A	-1.4288072
H426	D428G	-1.4099997
H422	R421H	-1.2413785
C409	R411C	-1.1570653
H349	V348E	-0.97586083
C331	Y330D	-0.84299526
C775	Y777C	-0.76661674
H931	T933S	-0.74708693
H853	H853Y	-0.61926383
H788	V789I	-0.61630645
H289	A288D	-0.56148155
H788	H788R	-0.42363436
H822	H822Y	-0.34921016
H853	N852I	-0.33316716

(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ZFAT from PDB

PDB ID	PDB title	PDB structure
2ELM	Solution structure of the 10th C2H2 zinc finger of human Zinc finger protein 406

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Differential gene expression and gene-gene network for ZFAT

Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)

* Left PPI network was created from samples with mutations in the LBS of ZFAT and the right PPI network was created from samples without mutations in the LBS of ZFAT. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.

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Phenotype information for ZFAT

Gene level disease information (DisGeNet)

Disease ID

Disease name

# PubMed

Association type

Mutation level pathogenic information (ClinVar annotation)

Allele ID

AA change

Clinical significance

Origin