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mutLBSgeneDB |
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| Gene summary for PHAX |
 Gene summary |
| Basic gene Info. | Gene symbol | PHAX |
| Gene name | phosphorylated adaptor for RNA export | |
| Synonyms | RNUXA | |
| Cytomap | UCSC genome browser: 5q23.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032177.3, | |
| Description | RNA U small nuclear RNA export adapter proteinRNA U, small nuclear RNA export adapter (phosphorylation regulated)RNA U, small nuclear RNA export adaptor (phosphorylation regulated)phosphorylated adapter RNA export protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604924 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164902 | ||
| HPRD : 15122 | ||
| Vega : OTTHUMG00000163273 | ||
| Protein | UniProt: Q9H814 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PHAX | |
| BioGPS: 51808 | ||
| Pathway | NCI Pathway Interaction Database: PHAX | |
| KEGG: PHAX | ||
| REACTOME: PHAX | ||
| Pathway Commons: PHAX | ||
| Context | iHOP: PHAX | |
| ligand binding site mutation search in PubMed: PHAX | ||
| UCL Cancer Institute: PHAX | ||
| 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 PHAX |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L290 | L290V | LUSC | 1 | R281 | R281Q | STAD | 1 | R281 | R281Q | 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 PHAX |
| 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 | R281 | R281Q | -0.62752531 | L290 | L290V | -0.61046847 |
| (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 PHAX from PDB |
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| Differential gene expression and gene-gene network for PHAX |
| 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 PHAX |
| 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 PHAX |
| 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 PHAX 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 PHAX |
| Multiple alignments for Q9H814 in multiple species |
| LBS | AA sequence | # species | Species | E240 | SFRLQEPKKDL | 2 | Homo sapiens, Bos taurus | E240 | AFRLQEPKKDL | 2 | Mus musculus, Rattus norvegicus | E240 | AYRLCEPKKDL | 1 | Gallus gallus | F275 | QNGGLFIMNGS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | F275 | QNGGLFIVNGT | 1 | Gallus gallus | F308 | QIKDIFYIENQ | 2 | Homo sapiens, Rattus norvegicus | F308 | QIKEIFYLENQ | 1 | Gallus gallus | F308 | QIKDIFYVENQ | 1 | Mus musculus | F308 | QIKDIFYLENQ | 1 | Bos taurus | G286 | RRRTPGGVFLN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G286 | RRRTPGGVYLN | 1 | Gallus gallus | G287 | RRTPGGVFLNL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G287 | RRTPGGVYLNL | 1 | Gallus gallus | I276 | NGGLFIMNGSR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I276 | NGGLFIVNGTR | 1 | Gallus gallus | K242 | RLQEPKKDLIA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K242 | RLCEPKKDLIA | 1 | Gallus gallus | K294 | FLNLLKNTPSI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K294 | YLNLLKNTPSI | 1 | Gallus gallus | L274 | EQNGGLFIMNG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L274 | EQNGGLFIVNG | 1 | Gallus gallus | L290 | PGGVFLNLLKN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L290 | PGGVYLNLLKN | 1 | Gallus gallus | M277 | GGLFIMNGSRR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M277 | GGLFIVNGTRR | 1 | Gallus gallus | N278 | GLFIMNGSRRR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N278 | GLFIVNGTRRR | 1 | Gallus gallus | P241 | FRLQEPKKDLI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P241 | YRLCEPKKDLI | 1 | Gallus gallus | R281 | IMNGSRRRTPG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R281 | IVNGTRRRTPG | 1 | Gallus gallus | T284 | GSRRRTPGGVF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T284 | GTRRRTPGGVY | 1 | Gallus gallus |
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