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 THG1L

Gene summary

Basic gene Info.	Gene symbol	THG1L
	Gene name	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)
	Synonyms	ICF45\|IHG-1
	Cytomap	UCSC genome browser: 5q33.3
	Type of gene	protein-coding
	RefGenes	NM_017872.3,
	Description	induced by high glucose-1interphase cytoplasmic foci protein 45probable tRNA(His) guanylyltransferase
	Modification date	20141207
dbXrefs	HGNC : HGNC
	HPRD : 13726
Protein	UniProt: Q9NWX6 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_THG1L
	BioGPS: 54974
Pathway	NCI Pathway Interaction Database: THG1L
	KEGG: THG1L
	REACTOME: THG1L
	Pathway Commons: THG1L
Context	iHOP: THG1L
	ligand binding site mutation search in PubMed: THG1L
	UCL Cancer Institute: THG1L
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:0008033	tRNA processing	21059936
GO:0051289	protein homotetramerization	21059936

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Ligand binding site mutations for THG1L

Cancer type specific mutLBS sorted by frequency

LBS	AAchange of nsSNV	Cancer type	# samples
A66	E67K	BLCA	1
A66	E67K	LUSC	1
D76	R78C	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 THG1L

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
A66	E67K	-1.2494913
D76	R78C	-0.37748231

(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 THG1L from PDB

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Differential gene expression and gene-gene network for THG1L

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 THG1L and the right PPI network was created from samples without mutations in the LBS of THG1L. 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 THG1L

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 THG1L

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.

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 THG1L go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
DGT		2'-DEOXYGUANOSINE-5'-TRIPHOSPHATE	3otb	A	D76
MG		MAGNESIUM(2+)	3otb	A	D76
MG		MAGNESIUM(2+)	3otb	A	D76
DGT		2'-DEOXYGUANOSINE-5'-TRIPHOSPHATE	3otb	B	D76
MG		MAGNESIUM(2+)	3otb	B	D76
MG		MAGNESIUM(2+)	3otb	B	D76

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Conservation information for LBS of THG1L

Multiple alignments for Q9NWX6 in multiple species

LBS	AA sequence	# species	Species
A66	NFHRFAEKHNF	2	Homo sapiens, Rattus norvegicus
A66	HFHRFSEVHEF	1	Arabidopsis thaliana
A66	HFHRFSDVHEF	1	Arabidopsis thaliana
A66	KFHEFSKFYEF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A66	KFHEFSKYYNF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A66	HFHEFSQHYSF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A66	GFHKFTKKHDF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A66	KFHKFSKTHDF	1	Drosophila melanogaster
A66	NFHRFAEEHNF	1	Mus musculus
A66	NFHRFAEKHSF	1	Bos taurus
A72	EKHNFAKPNDS	2	Homo sapiens, Rattus norvegicus
A72	EVHEFEKPNDE	1	Arabidopsis thaliana
A72	DVHEFEKPNDE	1	Arabidopsis thaliana
A72	KFYEFAKPNDE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A72	KYYNFAKPNDE	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
A72	QHYSFEKPNDE	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A72	KKHDFEKPNDL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A72	KTHDFEKPNDE	1	Drosophila melanogaster
A72	EEHNFAKPNDS	1	Mus musculus
A72	EKHSFIKPNDS	1	Bos taurus
D105	AYGQSDEYSFV	5	Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Bos taurus
D105	AFGESDEYSFI	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D105	AYGVSDEFSFV	1	Arabidopsis thaliana
D105	AYGVSDEYSFV	1	Arabidopsis thaliana
D105	AYGESDEYSFI	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D105	AYGDSDEYSFV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D58	VVVRLDGRNFH	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D58	VVVRIDGCHFH	2	Arabidopsis thaliana, Arabidopsis thaliana
D58	IVVRIDGKKFH	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D58	IVVRVDGKKFH	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D58	IVVRIDGKHFH	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D58	IVIRIDGKGFH	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D58	IVIRIDGKKFH	1	Drosophila melanogaster
D76	FEKPNDEQALK	2	Arabidopsis thaliana, Arabidopsis thaliana
D76	FAKPNDSRALH	2	Mus musculus, Rattus norvegicus
D76	FAKPNDSRALQ	1	Homo sapiens
D76	FAKPNDENALK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D76	FAKPNDERALK	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
D76	FEKPNDERALK	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D76	FEKPNDLRCLN	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D76	FEKPNDENALN	1	Drosophila melanogaster
D76	FIKPNDSRALH	1	Bos taurus
F62	LDGRNFHRFAE	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F62	IDGCHFHRFSE	1	Arabidopsis thaliana
F62	IDGCHFHRFSD	1	Arabidopsis thaliana
F62	IDGKKFHEFSK	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F62	VDGKKFHEFSK	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F62	IDGKHFHEFSQ	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F62	IDGKGFHKFTK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F62	IDGKKFHKFSK	1	Drosophila melanogaster
F71	AEKHNFAKPND	2	Homo sapiens, Rattus norvegicus
F71	SEVHEFEKPND	1	Arabidopsis thaliana
F71	SDVHEFEKPND	1	Arabidopsis thaliana
F71	SKFYEFAKPND	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F71	SKYYNFAKPND	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
F71	SQHYSFEKPND	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
F71	TKKHDFEKPND	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F71	SKTHDFEKPND	1	Drosophila melanogaster
F71	AEEHNFAKPND	1	Mus musculus
F71	AEKHSFIKPND	1	Bos taurus
G59	VVRLDGRNFHR	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G59	VVRIDGCHFHR	2	Arabidopsis thaliana, Arabidopsis thaliana
G59	VVRIDGKKFHE	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G59	VVRVDGKKFHE	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
G59	VVRIDGKHFHE	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G59	VIRIDGKGFHK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G59	VIRIDGKKFHK	1	Drosophila melanogaster
H63	DGRNFHRFAEK	3	Homo sapiens, Rattus norvegicus, Bos taurus
H63	DGCHFHRFSEV	1	Arabidopsis thaliana
H63	DGCHFHRFSDV	1	Arabidopsis thaliana
H63	DGKKFHEFSKF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H63	DGKKFHEFSKY	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
H63	DGKHFHEFSQH	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
H63	DGKGFHKFTKK	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H63	DGKKFHKFSKT	1	Drosophila melanogaster
H63	DGRNFHRFAEE	1	Mus musculus
K124	KRRASKFMTHV	2	Homo sapiens, Bos taurus
K124	KRQSSKIISAV	2	Arabidopsis thaliana, Arabidopsis thaliana
K124	KRRASKFMTLV	2	Mus musculus, Rattus norvegicus
K124	NRRKDKLATLF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K124	NRRRDKISTLF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
K124	RRRRDKLSTLF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
K124	ERRESKLVSHV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K124	KRRSAKLLTYV	1	Drosophila melanogaster
N61	RLDGRNFHRFA	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N61	RIDGCHFHRFS	2	Arabidopsis thaliana, Arabidopsis thaliana
N61	RIDGKKFHEFS	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N61	RVDGKKFHEFS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N61	RIDGKHFHEFS	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N61	RIDGKGFHKFT	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N61	RIDGKKFHKFS	1	Drosophila melanogaster
N75	NFAKPNDSRAL	3	Homo sapiens, Mus musculus, Rattus norvegicus
N75	EFEKPNDEQAL	2	Arabidopsis thaliana, Arabidopsis thaliana
N75	EFAKPNDENAL	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N75	NFAKPNDERAL	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
N75	SFEKPNDERAL	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
N75	DFEKPNDLRCL	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N75	DFEKPNDENAL	1	Drosophila melanogaster
N75	SFIKPNDSRAL	1	Bos taurus
R121	NWFKRRASKFM	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R121	ELYKRQSSKII	2	Arabidopsis thaliana, Arabidopsis thaliana
R121	TLFNRRKDKLA	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R121	KLFNRRRDKIS	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R121	TLFRRRRDKLS	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R121	ELYERRESKLV	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R121	AAFKRRSAKLL	1	Drosophila melanogaster
R60	VRLDGRNFHRF	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R60	VRIDGCHFHRF	2	Arabidopsis thaliana, Arabidopsis thaliana
R60	VRIDGKKFHEF	1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R60	VRVDGKKFHEF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
R60	VRIDGKHFHEF	1	Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R60	IRIDGKGFHKF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R60	IRIDGKKFHKF	1	Drosophila melanogaster
S104	IAYGQSDEYSF	4	Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S104	LAFGESDEYSF	2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
S104	FAYGVSDEFSF	1	Arabidopsis thaliana
S104	FAYGVSDEYSF	1	Arabidopsis thaliana
S104	CAYGESDEYSF	1	Kluyveromyces lactis (strain ATCC 8585 / CBS 2359 / DSM 70799 / NBRC 1267 / NRRL Y-1140 / WM37)
S104	LAYGDSDEYSF	1	Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S104	LAYGQSDEYSF	1	Drosophila melanogaster