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mutLBSgeneDB |
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| Gene summary for NAPEPLD |
 Gene summary |
| Basic gene Info. | Gene symbol | NAPEPLD |
| Gene name | N-acyl phosphatidylethanolamine phospholipase D | |
| Synonyms | FMP30|NAPE-PLD | |
| Cytomap | UCSC genome browser: 7q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001122838.1, NM_198990.4, | |
| Description | N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase DNAPE-hydrolyzing phospholipase D | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612334 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000161048 | ||
| HPRD : 14809 | ||
| Vega : OTTHUMG00000157204 | ||
| Protein | UniProt: Q6IQ20 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_NAPEPLD | |
| BioGPS: 222236 | ||
| Pathway | NCI Pathway Interaction Database: NAPEPLD | |
| KEGG: NAPEPLD | ||
| REACTOME: NAPEPLD | ||
| Pathway Commons: NAPEPLD | ||
| Context | iHOP: NAPEPLD | |
| ligand binding site mutation search in PubMed: NAPEPLD | ||
| UCL Cancer Institute: NAPEPLD | ||
| 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 NAPEPLD |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H187 | H187R | LUAD | 1 | A348 | T346N | UCEC | 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 NAPEPLD |
| 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 | A348 | T346N | -1.166654 | H187 | H187R | -0.63265675 |
| (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 NAPEPLD from PDB |
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| Differential gene expression and gene-gene network for NAPEPLD |
| 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 NAPEPLD |
| 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 NAPEPLD |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of NAPEPLD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | DXC | DEOXYCHOLIC ACID | 4qn9 | B | A348 | ZN | ZINC(2+) | 4qn9 | A | H187 | ZN | ZINC(2+) | 4qn9 | B | H187 |
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| Conservation information for LBS of NAPEPLD |
| Multiple alignments for Q6IQ20 in multiple species |
| LBS | AA sequence | # species | Species | A348 | HWGTFALANEH | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C222 | DWMQKCGCENV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D189 | SHNHYDHLDYG | 2 | Mus musculus, Rattus norvegicus | D189 | SHNHYDHLDYN | 1 | Homo sapiens | D189 | SHNHYDHLDCN | 1 | Bos taurus | D284 | FFFAGDTGYCP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D284 | FFFAGDTGYCS | 1 | Bos taurus | G161 | PSQYMGPKRFR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G161 | PSQRMGPKRFR | 1 | Bos taurus | H185 | AVLISHNHYDH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H185 | AVLVSHNHYDH | 1 | Bos taurus | H187 | LISHNHYDHLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H187 | LVSHNHYDHLD | 1 | Bos taurus | H190 | HNHYDHLDYGS | 2 | Mus musculus, Rattus norvegicus | H190 | HNHYDHLDYNS | 1 | Homo sapiens | H190 | HNHYDHLDCNS | 1 | Bos taurus | H253 | FTPSQHWCKRT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H343 | RSVAIHWGTFA | 2 | Mus musculus, Rattus norvegicus | H343 | KSMAIHWGTFA | 1 | Homo sapiens | H343 | KSVAIHWGTFA | 1 | Bos taurus | K221 | LDWMQKCGCEN | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K256 | SQHWCKRTLMD | 2 | Homo sapiens, Bos taurus | K256 | SQHWCKRTLLD | 2 | Mus musculus, Rattus norvegicus | L259 | WCKRTLMDDNK | 2 | Homo sapiens, Bos taurus | L259 | WCKRTLLDDNK | 2 | Mus musculus, Rattus norvegicus | M160 | SPSQYMGPKRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M160 | SPSQRMGPKRF | 1 | Bos taurus | M260 | CKRTLMDDNKV | 2 | Homo sapiens, Bos taurus | M260 | CKRTLLDDNKV | 2 | Mus musculus, Rattus norvegicus | P162 | SQYMGPKRFRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P162 | SQRMGPKRFRR | 1 | Bos taurus | R257 | QHWCKRTLMDD | 2 | Homo sapiens, Bos taurus | R257 | QHWCKRTLLDD | 2 | Mus musculus, Rattus norvegicus | T258 | HWCKRTLMDDN | 2 | Homo sapiens, Bos taurus | T258 | HWCKRTLLDDN | 2 | Mus musculus, Rattus norvegicus | W218 | LGLLDWMQKCG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y159 | ASPSQYMGPKR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y159 | ASPSQRMGPKR | 1 | Bos taurus | Y188 | ISHNHYDHLDY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y188 | VSHNHYDHLDC | 1 | Bos taurus | Y193 | YDHLDYGSVLA | 2 | Mus musculus, Rattus norvegicus | Y193 | YDHLDYNSVIA | 1 | Homo sapiens | Y193 | YDHLDCNSVIA | 1 | Bos taurus |
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