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 PSAP
Gene summary
Basic gene Info.Gene symbolPSAP
Gene nameprosaposin
SynonymsGLBA|SAP1
CytomapUCSC genome browser: 10q21-q22
Type of geneprotein-coding
RefGenesNM_001042465.1,
NM_001042466.1,NM_002778.2,
Descriptionproactivator polypeptidesphingolipid activator protein-1
Modification date20141207
dbXrefs MIM : 176801
HGNC : HGNC
Ensembl : ENSG00000197746
HPRD : 01460
Vega : OTTHUMG00000018429
ProteinUniProt: P07602
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PSAP
BioGPS: 5660
PathwayNCI Pathway Interaction Database: PSAP
KEGG: PSAP
REACTOME: PSAP
Pathway Commons: PSAP
ContextiHOP: PSAP
ligand binding site mutation search in PubMed: PSAP
UCL Cancer Institute: PSAP
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


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Ligand binding site mutations for PSAP

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R421D420VCOAD1
R421D420YCOAD1
M125R127LLUAD1
M125R127SSTAD1
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 PSAP
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
M125R127S-1.2929777
M125R127L-0.74881614
R421D420Y-0.12842326
R421D420V-0.095185017
(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 PSAP from PDB

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Differential gene expression and gene-gene network for PSAP
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 PSAP and the right PPI network was created from samples without mutations in the LBS of PSAP. 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 PSAP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2673635Combined Saposin Deficiency2Biomarker, GeneticVariation
umls:C0268262Metachromatic Leukodystrophy due to Saposin B Deficiency1Biomarker, GeneticVariation
umls:C2673266Krabbe Disease, Atypical, due to Saposin A Deficiency1Biomarker, GeneticVariation
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

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Pharmacological information for PSAP
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
ExperimentalDB01966Di-Stearoyl-3-Sn-PhosphatidylethanolamineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of PSAP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of PSAP
Multiple alignments for P07602 in multiple species
LBSAA sequence# speciesSpecies
A252QYSEIAIQMMM1Homo sapiens
A252EYSDLAIQMMM1Gallus gallus
A252QYSEVCVQMLM1Mus musculus
A252QYSEVAIQMVM1Bos taurus
A72KDVVTAAGDML1Homo sapiens
A72KELVTVVGKVL1Gallus gallus
A72KTVVTEAGNLL1Mus musculus
A72KDVITAAGNLL1Bos taurus
A73DVVTAAGDMLK1Homo sapiens
A73ELVTVVGKVLK1Gallus gallus
A73TVVTEAGNLLK1Mus musculus
A73DVITAAGNLLK1Bos taurus
C106NMSASCKEIVD2Homo sapiens, Bos taurus
C106GLASECKEIVD1Gallus gallus
C106SLSASCKEVVD1Mus musculus
D79GDMLKDNATEE1Homo sapiens
D79GKVLKDNGTED1Gallus gallus
D79GNLLKDNATQE1Mus musculus
D79GNLLKDNATEQ1Bos taurus
E124DIIKGEMSRPG1Homo sapiens
E124DMIKEEFDKPE1Gallus gallus
E124DMIKGEMSNPG1Mus musculus
E124DMIKGQMSHPG1Bos taurus
E130MSRPGEVCSAL1Homo sapiens
E130FDKPEVVCSAL1Gallus gallus
E130MSNPGEVCSAL1Mus musculus
E130MSHPGEVCSAL1Bos taurus
E263--QPKEICALV1Homo sapiens
E263DQQPKDICAMV1Gallus gallus
E263DQQPKEICVLA1Mus musculus
E263--QPKEICVLA1Bos taurus
E85NATEEEILVYL1Homo sapiens
E85NGTEDEIRSYL1Gallus gallus
E85NATQEEILHYL1Mus musculus
E85NATEQEILMYL1Bos taurus
I117SYLPVILDMIK2Mus musculus, Bos taurus
I117SYLPVILDIIK1Homo sapiens
I117SYLPVIMDMIK1Gallus gallus
I120PVILDIIKGEM1Homo sapiens
I120PVIMDMIKEEF1Gallus gallus
I120PVILDMIKGEM1Mus musculus
I120PVILDMIKGQM1Bos taurus
I121VILDIIKGEMS1Homo sapiens
I121VIMDMIKEEFD1Gallus gallus
I121VILDMIKGEMS1Mus musculus
I121VILDMIKGQMS1Bos taurus
L267KEICALVGFCD1Homo sapiens
L267KDICAMVGFCP1Gallus gallus
L267KEICVLAGFCN1Mus musculus
L267KEICVLAGFCD1Bos taurus
L90EILVYLEKTCD1Homo sapiens
L90EIRSYLEKRCE1Gallus gallus
L90EILHYLEKTCE1Mus musculus
L90EILMYLERTCD1Bos taurus
M125IIKGEMSRPGE1Homo sapiens
M125MIKEEFDKPEV1Gallus gallus
M125MIKGEMSNPGE1Mus musculus
M125MIKGQMSHPGE1Bos taurus
M255EIAIQMMMHM-1Homo sapiens
M255DLAIQMMMHMK1Gallus gallus
M255EVCVQMLMHMQ1Mus musculus
M255EVAIQMVMHM-1Bos taurus
M259QMMMHM---QP1Homo sapiens
M259QMMMHMKDQQP1Gallus gallus
M259QMLMHMQDQQP1Mus musculus
M259QMVMHM---QP1Bos taurus
N422GYLDRNLEKNS2Homo sapiens, Bos taurus
N422AYADKELEKNA1Gallus gallus
N422LYLEHNLEKNS1Mus musculus
R421VGYLDRNLEKN2Homo sapiens, Bos taurus
R421VAYADKELEKN1Gallus gallus
R421VLYLEHNLEKN1Mus musculus
T82LKDNATEEEIL1Homo sapiens
T82LKDNGTEDEIR1Gallus gallus
T82LKDNATQEEIL1Mus musculus
T82LKDNATEQEIL1Bos taurus
T93VYLEKTCDWLP1Homo sapiens
T93SYLEKRCEFLP1Gallus gallus
T93HYLEKTCEWIH1Mus musculus
T93MYLERTCDWLP1Bos taurus
V110SCKEIVDSYLP2Homo sapiens, Bos taurus
V110ECKEIVDSYLP1Gallus gallus
V110SCKEVVDSYLP1Mus musculus
V116DSYLPVILDMI2Mus musculus, Bos taurus
V116DSYLPVILDII1Homo sapiens
V116DSYLPVIMDMI1Gallus gallus
V131SRPGEVCSALN1Homo sapiens
V131DKPEVVCSALS1Gallus gallus
V131SNPGEVCSALN1Mus musculus
V131SHPGEVCSALN1Bos taurus
V69DICKDVVTAAG1Homo sapiens
V69DLCKELVTVVG1Gallus gallus
V69DICKTVVTEAG1Mus musculus
V69DICKDVITAAG1Bos taurus
W96EKTCDWLPKPN1Homo sapiens
W96EKRCEFLPDQG1Gallus gallus
W96EKTCEWIHDSS1Mus musculus
W96ERTCDWLPKPN1Bos taurus
Y113EIVDSYLPVIL2Homo sapiens, Bos taurus
Y113EIVDSYLPVIM1Gallus gallus
Y113EVVDSYLPVIL1Mus musculus
Y418KKLVGYLDRNL2Homo sapiens, Bos taurus
Y418KMIVAYADKEL1Gallus gallus
Y418KKLVLYLEHNL1Mus musculus
Y89EEILVYLEKTC1Homo sapiens
Y89DEIRSYLEKRC1Gallus gallus
Y89EEILHYLEKTC1Mus musculus
Y89QEILMYLERTC1Bos taurus


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