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 CD1A

Gene summary

Basic gene Info.	Gene symbol	CD1A
	Gene name	CD1a molecule
	Synonyms	CD1\|FCB6\|HTA1\|R4\|T6
	Cytomap	UCSC genome browser: 1q23.1
	Type of gene	protein-coding
	RefGenes	NM_001763.2,
	Description	CD1A antigen, a polypeptideT-cell surface antigen T6/Leu-6T-cell surface glycoprotein CD1acluster of differentiation 1 Acortical thymocyte antigen CD1Adifferentiation antigen CD1-alpha-3epidermal dendritic cell marker CD1ahTa1 thymocyte antigen
	Modification date	20141207
dbXrefs	MIM : 188370
	HGNC : HGNC
	Ensembl : ENSG00000158477
	HPRD : 01776
	Vega : OTTHUMG00000017512
Protein	UniProt: P06126 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_CD1A
	BioGPS: 909
Pathway	NCI Pathway Interaction Database: CD1A
	KEGG: CD1A
	REACTOME: CD1A
	Pathway Commons: CD1A
Context	iHOP: CD1A
	ligand binding site mutation search in PubMed: CD1A
	UCL Cancer Institute: CD1A
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 CD1A

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
I98	R99C	SKCM	2
D192	L191P	BLCA	1
L131,L133	Q132K	COAD	1
W31	A33T	COAD	1
Y36	S34C	HNSC	1
R90	R90P	LUAD	1
R90	R90S	LUAD	1
C183	C183Y	STAD	1
W40	Q42K	STAD	1
V45	V45I	STAD	1
W31	A33T	UCEC	1
W40	Q42H	UCEC	1
W57	D58G	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 CD1A

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
V45	V45I	-1.5194644
W31	A33T	-1.2412611
R90	R90S	-1.1773386
D192	L191P	-1.1039615
W57	D58G	-1.0657151
R90	R90P	-0.9017996
C183	C183Y	-0.74369015
L133	Q132K	-0.71333179
L131	Q132K	-0.71333179
W40	Q42H	-0.56605625
W40	Q42K	-0.54297624
Y36	S34C	-0.52432817
I98	R99C	-0.1721616

(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 CD1A from PDB

PDB ID	PDB title	PDB structure
1ONQ	Crystal Structure of CD1a in Complex with a Sulfatide

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Differential gene expression and gene-gene network for CD1A

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 CD1A and the right PPI network was created from samples without mutations in the LBS of CD1A. 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 CD1A

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 CD1A

Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network

Drug information targeting mutLBSgene (Approved drugs only)

Drug status	DrugBank ID	Name	Type	Drug structure
Approved	DB00098	Anti-thymocyte Globulin (Rabbit)	Biotech

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CD1A go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
42H		(4R,7R,18Z)-4,7-DIHYDROXY-N,N,N-TRIMETHYL-10-OXO-3,5,9- TRIOXA-4-PHOSPHAHEPTACOS-18-EN-1-AMINIUM 4-OXIDE	4x6e	A	W40

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Conservation information for LBS of CD1A

Multiple alignments for P06126 in multiple species

LBS

AA sequence

# species

Species