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mutLBSgeneDB |
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| Gene summary for PSAP |
 Gene summary |
| Basic gene Info. | Gene symbol | PSAP |
| Gene name | prosaposin | |
| Synonyms | GLBA|SAP1 | |
| Cytomap | UCSC genome browser: 10q21-q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001042465.1, NM_001042466.1,NM_002778.2, | |
| Description | proactivator polypeptidesphingolipid activator protein-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 176801 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197746 | ||
| HPRD : 01460 | ||
| Vega : OTTHUMG00000018429 | ||
| Protein | UniProt: P07602 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PSAP | |
| BioGPS: 5660 | ||
| Pathway | NCI Pathway Interaction Database: PSAP | |
| KEGG: PSAP | ||
| REACTOME: PSAP | ||
| Pathway Commons: PSAP | ||
| Context | iHOP: PSAP | |
| ligand binding site mutation search in PubMed: PSAP | ||
| UCL Cancer Institute: PSAP | ||
| 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 PSAP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R421 | D420V | COAD | 1 | R421 | D420Y | COAD | 1 | M125 | R127L | LUAD | 1 | M125 | R127S | 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 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 |
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| 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 | M125 | R127S | -1.2929777 | M125 | R127L | -0.74881614 | R421 | D420Y | -0.12842326 | R421 | D420V | -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) |
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| Phenotype information for PSAP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2673635 | Combined Saposin Deficiency | 2 | Biomarker, GeneticVariation |
| umls:C0268262 | Metachromatic Leukodystrophy due to Saposin B Deficiency | 1 | Biomarker, GeneticVariation |
| umls:C2673266 | Krabbe Disease, Atypical, due to Saposin A Deficiency | 1 | Biomarker, GeneticVariation |
| umls:C0017661 | Glomerulonephritis, IGA | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB01966 | Di-Stearoyl-3-Sn-Phosphatidylethanolamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of PSAP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of PSAP |
| Multiple alignments for P07602 in multiple species |
| LBS | AA sequence | # species | Species | A252 | QYSEIAIQMMM | 1 | Homo sapiens | A252 | EYSDLAIQMMM | 1 | Gallus gallus | A252 | QYSEVCVQMLM | 1 | Mus musculus | A252 | QYSEVAIQMVM | 1 | Bos taurus | A72 | KDVVTAAGDML | 1 | Homo sapiens | A72 | KELVTVVGKVL | 1 | Gallus gallus | A72 | KTVVTEAGNLL | 1 | Mus musculus | A72 | KDVITAAGNLL | 1 | Bos taurus | A73 | DVVTAAGDMLK | 1 | Homo sapiens | A73 | ELVTVVGKVLK | 1 | Gallus gallus | A73 | TVVTEAGNLLK | 1 | Mus musculus | A73 | DVITAAGNLLK | 1 | Bos taurus | C106 | NMSASCKEIVD | 2 | Homo sapiens, Bos taurus | C106 | GLASECKEIVD | 1 | Gallus gallus | C106 | SLSASCKEVVD | 1 | Mus musculus | D79 | GDMLKDNATEE | 1 | Homo sapiens | D79 | GKVLKDNGTED | 1 | Gallus gallus | D79 | GNLLKDNATQE | 1 | Mus musculus | D79 | GNLLKDNATEQ | 1 | Bos taurus | E124 | DIIKGEMSRPG | 1 | Homo sapiens | E124 | DMIKEEFDKPE | 1 | Gallus gallus | E124 | DMIKGEMSNPG | 1 | Mus musculus | E124 | DMIKGQMSHPG | 1 | Bos taurus | E130 | MSRPGEVCSAL | 1 | Homo sapiens | E130 | FDKPEVVCSAL | 1 | Gallus gallus | E130 | MSNPGEVCSAL | 1 | Mus musculus | E130 | MSHPGEVCSAL | 1 | Bos taurus | E263 | --QPKEICALV | 1 | Homo sapiens | E263 | DQQPKDICAMV | 1 | Gallus gallus | E263 | DQQPKEICVLA | 1 | Mus musculus | E263 | --QPKEICVLA | 1 | Bos taurus | E85 | NATEEEILVYL | 1 | Homo sapiens | E85 | NGTEDEIRSYL | 1 | Gallus gallus | E85 | NATQEEILHYL | 1 | Mus musculus | E85 | NATEQEILMYL | 1 | Bos taurus | I117 | SYLPVILDMIK | 2 | Mus musculus, Bos taurus | I117 | SYLPVILDIIK | 1 | Homo sapiens | I117 | SYLPVIMDMIK | 1 | Gallus gallus | I120 | PVILDIIKGEM | 1 | Homo sapiens | I120 | PVIMDMIKEEF | 1 | Gallus gallus | I120 | PVILDMIKGEM | 1 | Mus musculus | I120 | PVILDMIKGQM | 1 | Bos taurus | I121 | VILDIIKGEMS | 1 | Homo sapiens | I121 | VIMDMIKEEFD | 1 | Gallus gallus | I121 | VILDMIKGEMS | 1 | Mus musculus | I121 | VILDMIKGQMS | 1 | Bos taurus | L267 | KEICALVGFCD | 1 | Homo sapiens | L267 | KDICAMVGFCP | 1 | Gallus gallus | L267 | KEICVLAGFCN | 1 | Mus musculus | L267 | KEICVLAGFCD | 1 | Bos taurus | L90 | EILVYLEKTCD | 1 | Homo sapiens | L90 | EIRSYLEKRCE | 1 | Gallus gallus | L90 | EILHYLEKTCE | 1 | Mus musculus | L90 | EILMYLERTCD | 1 | Bos taurus | M125 | IIKGEMSRPGE | 1 | Homo sapiens | M125 | MIKEEFDKPEV | 1 | Gallus gallus | M125 | MIKGEMSNPGE | 1 | Mus musculus | M125 | MIKGQMSHPGE | 1 | Bos taurus | M255 | EIAIQMMMHM- | 1 | Homo sapiens | M255 | DLAIQMMMHMK | 1 | Gallus gallus | M255 | EVCVQMLMHMQ | 1 | Mus musculus | M255 | EVAIQMVMHM- | 1 | Bos taurus | M259 | QMMMHM---QP | 1 | Homo sapiens | M259 | QMMMHMKDQQP | 1 | Gallus gallus | M259 | QMLMHMQDQQP | 1 | Mus musculus | M259 | QMVMHM---QP | 1 | Bos taurus | N422 | GYLDRNLEKNS | 2 | Homo sapiens, Bos taurus | N422 | AYADKELEKNA | 1 | Gallus gallus | N422 | LYLEHNLEKNS | 1 | Mus musculus | R421 | VGYLDRNLEKN | 2 | Homo sapiens, Bos taurus | R421 | VAYADKELEKN | 1 | Gallus gallus | R421 | VLYLEHNLEKN | 1 | Mus musculus | T82 | LKDNATEEEIL | 1 | Homo sapiens | T82 | LKDNGTEDEIR | 1 | Gallus gallus | T82 | LKDNATQEEIL | 1 | Mus musculus | T82 | LKDNATEQEIL | 1 | Bos taurus | T93 | VYLEKTCDWLP | 1 | Homo sapiens | T93 | SYLEKRCEFLP | 1 | Gallus gallus | T93 | HYLEKTCEWIH | 1 | Mus musculus | T93 | MYLERTCDWLP | 1 | Bos taurus | V110 | SCKEIVDSYLP | 2 | Homo sapiens, Bos taurus | V110 | ECKEIVDSYLP | 1 | Gallus gallus | V110 | SCKEVVDSYLP | 1 | Mus musculus | V116 | DSYLPVILDMI | 2 | Mus musculus, Bos taurus | V116 | DSYLPVILDII | 1 | Homo sapiens | V116 | DSYLPVIMDMI | 1 | Gallus gallus | V131 | SRPGEVCSALN | 1 | Homo sapiens | V131 | DKPEVVCSALS | 1 | Gallus gallus | V131 | SNPGEVCSALN | 1 | Mus musculus | V131 | SHPGEVCSALN | 1 | Bos taurus | V69 | DICKDVVTAAG | 1 | Homo sapiens | V69 | DLCKELVTVVG | 1 | Gallus gallus | V69 | DICKTVVTEAG | 1 | Mus musculus | V69 | DICKDVITAAG | 1 | Bos taurus | W96 | EKTCDWLPKPN | 1 | Homo sapiens | W96 | EKRCEFLPDQG | 1 | Gallus gallus | W96 | EKTCEWIHDSS | 1 | Mus musculus | W96 | ERTCDWLPKPN | 1 | Bos taurus | Y113 | EIVDSYLPVIL | 2 | Homo sapiens, Bos taurus | Y113 | EIVDSYLPVIM | 1 | Gallus gallus | Y113 | EVVDSYLPVIL | 1 | Mus musculus | Y418 | KKLVGYLDRNL | 2 | Homo sapiens, Bos taurus | Y418 | KMIVAYADKEL | 1 | Gallus gallus | Y418 | KKLVLYLEHNL | 1 | Mus musculus | Y89 | EEILVYLEKTC | 1 | Homo sapiens | Y89 | DEIRSYLEKRC | 1 | Gallus gallus | Y89 | EEILHYLEKTC | 1 | Mus musculus | Y89 | QEILMYLERTC | 1 | Bos taurus |
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