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 GLTP
Gene summary
Basic gene Info.Gene symbolGLTP
Gene nameglycolipid transfer protein
Synonyms-
CytomapUCSC genome browser: 12q24.11
Type of geneprotein-coding
RefGenesNM_016433.3,
Descriptiontruncated glycolipid transfer protein
Modification date20141207
dbXrefs MIM : 608949
HGNC : HGNC
Ensembl : ENSG00000139433
HPRD : 16409
Vega : OTTHUMG00000169278
ProteinUniProt: Q9NZD2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GLTP
BioGPS: 51228
PathwayNCI Pathway Interaction Database: GLTP
KEGG: GLTP
REACTOME: GLTP
Pathway Commons: GLTP
ContextiHOP: GLTP
ligand binding site mutation search in PubMed: GLTP
UCL Cancer Institute: GLTP
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0046836glycolipid transport15901739


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Ligand binding site mutations for GLTP
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
LBSAAchange of nsSNVCancer type# samples
F161D160NGBM1
V27E25KKIRC1
L9H7NSTAD1
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 GLTP
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.
LBSAAchange of nsSNVRelative stability change
V27E25K-0.77597655
L9H7N-0.60315308
F161D160N-0.36772445
(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 GLTP from PDB

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Differential gene expression and gene-gene network for GLTP
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 GLTP and the right PPI network was created from samples without mutations in the LBS of GLTP. 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 GLTP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for GLTP
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 statusDrugBank IDNameTypeDrug structure
ExperimentalDB03203SphingosineSmall molecule
ExperimentalDB03600Decanoic AcidSmall molecule
Approved|vet_approvedDB04224Oleic AcidSmall molecule
ApprovedDB04465LactoseSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GLTP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
03FN-(9Z-OCTADECENOYL)-1--GLUCOSYL-SPHING-4-ENINE3s0kAF161
CISCIS-TETRACOSENOYL SULFATIDE3s0iAL9


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Conservation information for LBS of GLTP
Multiple alignments for Q9NZD2 in multiple species
LBSAA sequence# speciesSpecies
A128LIRVNATKAYE3Homo sapiens, Pan troglodytes, Bos taurus
A128LIRVNANKAYE2Mus musculus, Rattus norvegicus
A128LIKVNVTKAYE1Danio rerio
A151KIFQAALYAAP3Homo sapiens, Pan troglodytes, Bos taurus
A151KIFKAALYAAP2Mus musculus, Rattus norvegicus
A151KLFQAALYAAP1Danio rerio
A155AALYAAPYKSD5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
A155AALYAAPYRSD1Danio rerio
A93VGATLALMWLK4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
A93VGATLALLWLK2Mus musculus, Rattus norvegicus
D48TPIKADISGNI5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
D48SPIKADIAGNI1Danio rerio
F103KRGLRFIQVFL5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
F103KRGLRFIQVLL1Danio rerio
F107RFIQVFLQSIC5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
F107RFIQVLLQSLV1Danio rerio
F148IVQKIFQAALY3Homo sapiens, Pan troglodytes, Bos taurus
F148LVQKIFKAALY2Mus musculus, Rattus norvegicus
F148IVQKLFQAALY1Danio rerio
F161PYKSDFLKALS5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
F161PYRSDFLRALS1Danio rerio
F183EKIRLFLVNYT4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
F183DKVRQFLVNFT1Danio rerio
F183EKVRLFLVNYT1Bos taurus
F33SHLPPFFDCLG4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
F33AHLPPFFDCLG2Mus musculus, Rattus norvegicus
F34HLPPFFDCLGS6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
F42LGSPVFTPIKA5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
F42LGSAVFSPIKA1Danio rerio
G100MWLKRGLRFIQ4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
G100LWLKRGLRFIQ2Mus musculus, Rattus norvegicus
H140ALKKYHGWIVQ4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
H140ALKKYHGWLVQ2Mus musculus, Rattus norvegicus
I104RGLRFIQVFLQ5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
I104RGLRFIQVLLQ1Danio rerio
I124NHPNLIRVNAT3Homo sapiens, Pan troglodytes, Bos taurus
I124NHPNLIRVNAN2Mus musculus, Rattus norvegicus
I124NNPNLIKVNVT1Danio rerio
I147WIVQKIFQAAL3Homo sapiens, Pan troglodytes, Bos taurus
I147WLVQKIFKAAL2Mus musculus, Rattus norvegicus
I147WIVQKLFQAAL1Danio rerio
I45PVFTPIKADIS5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
I45AVFSPIKADIA1Danio rerio
I49PIKADISGNIT5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
I49PIKADIAGNIT1Danio rerio
K55SGNITKIKAVY5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
K55AGNITKIKAVY1Danio rerio
K87GAEWPKVGATL6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
L108FIQVFLQSICD5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
L108FIQVLLQSLVD1Danio rerio
L136AYEMALKKYHG6Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
L152IFQAALYAAPY3Homo sapiens, Pan troglodytes, Bos taurus
L152IFKAALYAAPY2Mus musculus, Rattus norvegicus
L152LFQAALYAAPY1Danio rerio
L165DFLKALSKGQN5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
L165DFLRALSKGRE1Danio rerio
L30EAVSHLPPFFD4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
L30EAVAHLPPFFD2Mus musculus, Rattus norvegicus
L37PFFDCLGSPVF5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
L37PFFDCLGSAVF1Danio rerio
L9LAEHLLKPLPA4Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes
L9LMEHQFRQLPA1Danio rerio
L9LAEHLLRPLPA1Bos taurus
L92KVGATLALMWL4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
L92KVGATLALLWL2Mus musculus, Rattus norvegicus
N52ADISGNITKIK5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
N52ADIAGNITKIK1Danio rerio
P40DCLGSPVFTPI5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
P40DCLGSAVFSPI1Danio rerio
P44SPVFTPIKADI5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
P44SAVFSPIKADI1Danio rerio
V144YHGWIVQKIFQ3Homo sapiens, Pan troglodytes, Bos taurus
V144YHGWLVQKIFK2Mus musculus, Rattus norvegicus
V144YHGWIVQKLFQ1Danio rerio
V27PFLEAVSHLPP4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
V27PFLEAVAHLPP2Mus musculus, Rattus norvegicus
V41CLGSPVFTPIK5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
V41CLGSAVFSPIK1Danio rerio
W96TLALMWLKRGL4Homo sapiens, Danio rerio, Pan troglodytes, Bos taurus
W96TLALLWLKRGL2Mus musculus, Rattus norvegicus
Y132NATKAYEMALK3Homo sapiens, Pan troglodytes, Bos taurus
Y132NANKAYEMALK2Mus musculus, Rattus norvegicus
Y132NVTKAYEMALK1Danio rerio
Y187LFLVNYTATID5Homo sapiens, Mus musculus, Rattus norvegicus, Pan troglodytes, Bos taurus
Y187QFLVNFTATND1Danio rerio
Y207NAELNYKV3Homo sapiens, Pan troglodytes, Bos taurus
Y207NAELDYTV2Mus musculus, Rattus norvegicus
Y207NADLDYKV1Danio rerio


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