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 CCDC101

Gene summary

Basic gene Info.	Gene symbol	CCDC101
	Gene name	coiled-coil domain containing 101
	Synonyms	SGF29\|STAF36
	Cytomap	UCSC genome browser: 16p11.2
	Type of gene	protein-coding
	RefGenes	NM_138414.2,
	Description	SAGA-associated factor 29 homologcoiled-coil domain-containing protein 101
	Modification date	20141207
dbXrefs	MIM : 613374
	HGNC : HGNC
	Ensembl : ENSG00000176476
	HPRD : 13996
	Vega : OTTHUMG00000131763
Protein	UniProt: Q96ES7 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CCDC101
	BioGPS: 112869
Pathway	NCI Pathway Interaction Database: CCDC101
	KEGG: CCDC101
	REACTOME: CCDC101
	Pathway Commons: CCDC101
Context	iHOP: CCDC101
	ligand binding site mutation search in PubMed: CCDC101
	UCL Cancer Institute: CCDC101
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
GO:0043966	histone H3 acetylation	18838386

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Ligand binding site mutations for CCDC101

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
D196	E198Q	BLCA	1
D266	S268F	BRCA	1
Y245	A247T	STAD	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 CCDC101

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
D196	E198Q	-1.1261497
D266	S268F	-1.0107115
Y245	A247T	-0.5996982

(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 CCDC101 from PDB

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Differential gene expression and gene-gene network for CCDC101

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 CCDC101 and the right PPI network was created from samples without mutations in the LBS of CCDC101. 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 CCDC101

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

Phenotype IDs

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Pharmacological information for CCDC101

Drug information targeting mutLBSgene (Approved drugs only)

Drug status

DrugBank ID

Name

Type

Drug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CCDC101 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG)	3me9	A	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS)	3me9	B	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS)	3mea	A	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG)	3met	A	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS)	3met	B	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS,GLN)	3meu	A	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,LYS)	3meu	B	D196 Y245 D266
III		Peptide ligand (ALA,ALA,THR,LYS)	3mev	A	D196 Y245 D266
III		Peptide ligand (ALA,ALA,THR,LYS)	3mev	B	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,4WQ)	5c0m	A	D196 Y245 D266
III		Peptide ligand (ALA,ARG,THR,4WQ,GLN)	5c0m	B	D196 Y245 D266

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Conservation information for LBS of CCDC101

Multiple alignments for Q96ES7 in multiple species

LBS	AA sequence	# species	Species
C243	YPQTTCFYRAL	3	Homo sapiens, Mus musculus, Gallus gallus
D194	KYEVDDIDEEG	3	Homo sapiens, Mus musculus, Gallus gallus
D196	EVDDIDEEGKE	3	Homo sapiens, Mus musculus, Gallus gallus
D266	SVLFEDTSYAD	3	Homo sapiens, Mus musculus, Gallus gallus
E265	YSVLFEDTSYA	3	Homo sapiens, Mus musculus, Gallus gallus
I176	GDEQWILAEVV	3	Homo sapiens, Mus musculus, Gallus gallus
L119	MRRGVLMTLLQ	3	Homo sapiens, Mus musculus, Gallus gallus
M120	RRGVLMTLLQQ	3	Homo sapiens, Mus musculus, Gallus gallus
Q174	VDGDEQWILAE	2	Homo sapiens, Gallus gallus
Q174	VEGDEQWILAE	1	Mus musculus
Q240	LALYPQTTCFY	3	Homo sapiens, Mus musculus, Gallus gallus
R115	PRKTMRRGVLM	3	Homo sapiens, Mus musculus, Gallus gallus
R116	RKTMRRGVLMT	3	Homo sapiens, Mus musculus, Gallus gallus
T241	ALYPQTTCFYR	3	Homo sapiens, Mus musculus, Gallus gallus
T242	LYPQTTCFYRA	3	Homo sapiens, Mus musculus, Gallus gallus
Y238	LVLALYPQTTC	3	Homo sapiens, Mus musculus, Gallus gallus
Y245	QTTCFYRALIH	3	Homo sapiens, Mus musculus, Gallus gallus