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mutLBSgeneDB |
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| Gene summary for PUM1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PUM1 |
| Gene name | pumilio RNA-binding family member 1 | |
| Synonyms | HSPUM|PUMH|PUMH1|PUML1 | |
| Cytomap | UCSC genome browser: 1p35.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001020658.1, NM_014676.2, | |
| Description | pumilio homolog 1pumilio-1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607204 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134644 | ||
| HPRD : 06230 | ||
| Vega : OTTHUMG00000003795 | ||
| Protein | UniProt: Q14671 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PUM1 | |
| BioGPS: 9698 | ||
| Pathway | NCI Pathway Interaction Database: PUM1 | |
| KEGG: PUM1 | ||
| REACTOME: PUM1 | ||
| Pathway Commons: PUM1 | ||
| Context | iHOP: PUM1 | |
| ligand binding site mutation search in PubMed: PUM1 | ||
| UCL Cancer Institute: PUM1 | ||
| 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 PUM1 |
| 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 | N971,N969 | G970D | COAD | 1 | Y1156 | G1157S | GBM | 1 | Q968 | Q968E | LUSC | 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 PUM1 |
| 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 | Q968 | Q968E | -1.1768856 | Y1156 | G1157S | -1.1748547 | N971 | G970D | -0.42320984 | N969 | G970D | -0.42320984 |
| (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 PUM1 from PDB |
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| Differential gene expression and gene-gene network for PUM1 |
| 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 PUM1 |
| 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 PUM1 |
| 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 PUM1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3bsx | B | N971 Y1156 | NUC | Nucleic Acids | 3bsb | B | Q968 N969 N971 Y1156 | NUC | Nucleic Acids | 3bsx | A | Q968 N969 N971 Y1156 | NUC | Nucleic Acids | 3q0l | B | Q968 N971 Y1156 | NUC | Nucleic Acids | 3q0m | A | Q968 N971 Y1156 | NUC | Nucleic Acids | 3q0m | B | Q968 N971 Y1156 | NUC | Nucleic Acids | 1m8w | A | Y1156 | NUC | Nucleic Acids | 1m8w | A | Y1156 | NUC | Nucleic Acids | 1m8w | B | Y1156 | NUC | Nucleic Acids | 1m8w | B | Y1156 | NUC | Nucleic Acids | 1m8x | A | Y1156 | NUC | Nucleic Acids | 1m8x | B | Y1156 | NUC | Nucleic Acids | 1m8y | A | Y1156 | NUC | Nucleic Acids | 2yjy | A | Y1156 | NUC | Nucleic Acids | 2yjy | B | Y1156 | NUC | Nucleic Acids | 3q0l | A | Y1156 | NUC | Nucleic Acids | 3q0n | A | Y1156 | NUC | Nucleic Acids | 3q0n | B | Y1156 | NUC | Nucleic Acids | 3q0o | A | Y1156 | NUC | Nucleic Acids | 3q0o | B | Y1156 | NUC | Nucleic Acids | 3q0p | A | Y1156 | NUC | Nucleic Acids | 3q0p | B | Y1156 |
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| Conservation information for LBS of PUM1 |
| Multiple alignments for Q14671 in multiple species |
| LBS | AA sequence | # species | Species | C935 | LQMYGCRVIQK | 3 | Homo sapiens, Gallus gallus, Mus musculus | E1083 | ASNVVEKCVTH | 3 | Homo sapiens, Gallus gallus, Mus musculus | F1077 | LSQHKFASNVV | 3 | Homo sapiens, Gallus gallus, Mus musculus | F897 | LMVDVFGNYVI | 3 | Homo sapiens, Gallus gallus, Mus musculus | H1159 | YTYGKHILAKL | 3 | Homo sapiens, Gallus gallus, Mus musculus | H972 | DQNGNHVVQKC | 3 | Homo sapiens, Gallus gallus, Mus musculus | K1076 | VLSQHKFASNV | 3 | Homo sapiens, Gallus gallus, Mus musculus | M932 | SLALQMYGCRV | 3 | Homo sapiens, Gallus gallus, Mus musculus | N1080 | HKFASNVVEKC | 3 | Homo sapiens, Gallus gallus, Mus musculus | N1122 | KDQYANYVVQK | 3 | Homo sapiens, Gallus gallus, Mus musculus | N899 | VDVFGNYVIQK | 3 | Homo sapiens, Gallus gallus, Mus musculus | N969 | CVKDQNGNHVV | 3 | Homo sapiens, Gallus gallus, Mus musculus | N971 | KDQNGNHVVQK | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q1011 | GCRVIQRILEH | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q1040 | QLVQDQYGNYV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q1047 | GNYVIQHVLEH | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q1119 | TMMKDQYANYV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q1126 | ANYVVQKMIDV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q860 | EFSQDQHGSRF | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q867 | GSRFIQLKLER | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q903 | GNYVIQKFFEF | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q939 | GCRVIQKALEF | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q968 | KCVKDQNGNHV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q975 | GNHVVQKCIEC | 3 | Homo sapiens, Gallus gallus, Mus musculus | R1008 | HPYGCRVIQRI | 3 | Homo sapiens, Gallus gallus, Mus musculus | R1012 | CRVIQRILEHC | 3 | Homo sapiens, Gallus gallus, Mus musculus | R864 | DQHGSRFIQLK | 3 | Homo sapiens, Gallus gallus, Mus musculus | R936 | QMYGCRVIQKA | 3 | Homo sapiens, Gallus gallus, Mus musculus | S1079 | QHKFASNVVEK | 3 | Homo sapiens, Gallus gallus, Mus musculus | S863 | QDQHGSRFIQL | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y1041 | LVQDQYGNYVI | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y1044 | DQYGNYVIQHV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y1120 | MMKDQYANYVV | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y1123 | DQYANYVVQKM | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y1156 | LRKYTYGKHIL | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y900 | DVFGNYVIQKF | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y933 | LALQMYGCRVI | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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