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 100616408

Gene summary

Basic gene Info.	Gene symbol	100616408
	Gene name
	Synonyms
	Cytomap	UCSC genome browser:
	Type of gene
	RefGenes
	Description
	Modification date
dbXrefs
Protein	UniProt: P17844 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_100616408
	BioGPS: 100616408
Pathway	NCI Pathway Interaction Database: 100616408
	KEGG: 100616408
	REACTOME: 100616408
	Pathway Commons: 100616408
Context	iHOP: 100616408
	ligand binding site mutation search in PubMed: 100616408
	UCL Cancer Institute: 100616408
Assigned class in mutLBSgeneDB

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 100616408

Cancer type specific mutLBS sorted by frequency

LBS

AAchange of nsSNV

Cancer type

# samples

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 100616408

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
F96	F96L	-0.81832959
Q121	Q123H	-0.4989292

(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 100616408 from PDB

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Differential gene expression and gene-gene network for 100616408

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 100616408 and the right PPI network was created from samples without mutations in the LBS of 100616408. 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 100616408

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 100616408

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 100616408 go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
ADP		ADP	3fe2	A	F96 Q121
ADP		ADP	3fe2	B	F96 Q121

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Conservation information for LBS of 100616408

Multiple alignments for P17844 in multiple species

LBS	AA sequence	# species	Species
E116	RQNFTEPTAIQ	2	Homo sapiens, Pan troglodytes
E116	KLGFTEPTPIQ	1	Arabidopsis thaliana
E116	KAGFTEPTPIQ	1	Arabidopsis thaliana
E116	AEGFDKPTGIQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E116	QEGFAKPTGIQ	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
E116	EEGFEKPTAIQ	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E116	QLGFEAPTPIQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E116	AQGFPAPTAIQ	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F114	IARQNFTEPTA	2	Homo sapiens, Pan troglodytes
F114	IAKLGFTEPTP	1	Arabidopsis thaliana
F114	VKKAGFTEPTP	1	Arabidopsis thaliana
F114	VKAEGFDKPTG	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F114	VKQEGFAKPTG	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F114	VKEEGFEKPTA	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F114	VKQLGFEAPTP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F114	VKAQGFPAPTA	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
F96	KPVLNFYEANF	2	Homo sapiens, Pan troglodytes
F96	KPMKMFQDANF	1	Arabidopsis thaliana
F96	KPVKSFRDVGF	1	Arabidopsis thaliana
F96	KPITTFDEAGF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F96	KPIRSFDEAGF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F96	KPIRTFDEAGF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F96	KPVTTFEEAGF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F96	KPVETFDEAGF	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
G141	GIAETGSGKTL	3	Arabidopsis thaliana, Arabidopsis thaliana, Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
G141	GVAQTGSGKTL	2	Homo sapiens, Pan troglodytes
G141	GVAATGSGKTL	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G141	GIAATGSGKTL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G141	GISATGSGKTL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G143	AATGSGKTLSY	3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G143	AQTGSGKTLSY	2	Homo sapiens, Pan troglodytes
G143	AETGSGKTLAY	1	Arabidopsis thaliana
G143	AETGSGKTLSY	1	Arabidopsis thaliana
G143	SATGSGKTLSY	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G143	AETGSGKTLTY	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
K144	ATGSGKTLSYC	4	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Schizosaccharomyces pombe (
K144	QTGSGKTLSYL	2	Homo sapiens, Pan troglodytes
K144	ETGSGKTLAYL	1	Arabidopsis thaliana
K144	ETGSGKTLSYL	1	Arabidopsis thaliana
K144	ETGSGKTLTYC	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
Q121	EPTAIQAQGWP	2	Homo sapiens, Pan troglodytes
Q121	KPTGIQCQGWP	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
Q121	EPTPIQAQGWP	1	Arabidopsis thaliana
Q121	EPTPIQSQGWP	1	Arabidopsis thaliana
Q121	KPTAIQCQGWP	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
Q121	APTPIQQQAWP	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q121	APTAIQSQGWP	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
S142	VAQTGSGKTLS	2	Homo sapiens, Pan troglodytes
S142	VAATGSGKTLS	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S142	IAETGSGKTLA	1	Arabidopsis thaliana
S142	IAETGSGKTLS	1	Arabidopsis thaliana
S142	IAATGSGKTLS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S142	ISATGSGKTLS	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S142	IAETGSGKTLT	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T118	NFTEPTAIQAQ	2	Homo sapiens, Pan troglodytes
T118	GFTEPTPIQAQ	1	Arabidopsis thaliana
T118	GFTEPTPIQSQ	1	Arabidopsis thaliana
T118	GFDKPTGIQCQ	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T118	GFAKPTGIQCQ	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
T118	GFEKPTAIQCQ	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T118	GFEAPTPIQQQ	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T118	GFPAPTAIQSQ	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T140	VGVAQTGSGKT	2	Homo sapiens, Pan troglodytes
T140	IGIAETGSGKT	2	Arabidopsis thaliana, Arabidopsis thaliana
T140	IGVAATGSGKT	2	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
T140	VGIAATGSGKT	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T140	VGISATGSGKT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T140	VGIAETGSGKT	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)
T145	TGSGKTLSYCL	4	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056), Schizosaccharomyces pombe (
T145	TGSGKTLSYLL	3	Homo sapiens, Pan troglodytes, Arabidopsis thaliana
T145	TGSGKTLAYLL	1	Arabidopsis thaliana
T145	TGSGKTLTYCL	1	Magnaporthe oryzae (strain 70-15 / ATCC MYA-4617 / FGSC 8958)