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mutLBSgeneDB |
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| Gene summary for U2AF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | U2AF1 |
| Gene name | U2 small nuclear RNA auxiliary factor 1 | |
| Synonyms | FP793|RN|RNU2AF1|U2AF35|U2AFBP | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001025203.1, NM_001025204.1,NM_006758.2, | |
| Description | U2 small nuclear RNA auxillary factor 1U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunitU2 snRNP auxiliary factor small subunitU2(RNU2) small nuclear RNA auxiliary factor binding proteinsplicing factor U2AF 35 kDa subunitsplicing fac | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 191317 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000160201 | ||
| HPRD : 01871 | ||
| Vega : OTTHUMG00000086836 | ||
| Protein | UniProt: Q01081 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_U2AF1 | |
| BioGPS: 7307 | ||
| Pathway | NCI Pathway Interaction Database: U2AF1 | |
| KEGG: U2AF1 | ||
| REACTOME: U2AF1 | ||
| Pathway Commons: U2AF1 | ||
| Context | iHOP: U2AF1 | |
| ligand binding site mutation search in PubMed: U2AF1 | ||
| UCL Cancer Institute: U2AF1 | ||
| 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 U2AF1 |
| 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 | P139,G137 | Q138K | 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 U2AF1 |
| 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 | P139 | Q138K | -0.83865342 | G137 | Q138K | -0.83865342 |
| (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 U2AF1 from PDB |
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| Differential gene expression and gene-gene network for U2AF1 |
| 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 U2AF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0026986 | Myelodysplastic Syndromes | 6 | Biomarker |
| umls:C0019693 | HIV Infections | 1 | Biomarker |
| umls:C0029456 | Osteoporosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for U2AF1 |
| 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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| 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 U2AF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LYS,TYR,TRP,ASP,VAL,PRO,PRO,PRO,GLY,PHE,GLU,HIS,ILE,THR,PRO,MET,GLN,TYR,LYS,ALA,MET,GLN,ALA) | 1jmt | A | G137 P139 |
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| Conservation information for LBS of U2AF1 |
| Multiple alignments for Q01081 in multiple species |
| LBS | AA sequence | # species | Species | E80 | QEHYDEFFEEV | 2 | Homo sapiens, Homo sapiens | E80 | QADFEDFYEDI | 1 | Oryza sativa subsp. japonica | E80 | QEHFEDFYEDI | 1 | Oryza sativa subsp. japonica | E80 | QEHFEDFFEDL | 1 | Arabidopsis thaliana | E80 | QDHFEDFYEDI | 1 | Arabidopsis thaliana | E84 | DEFFEEVFTEM | 2 | Homo sapiens, Homo sapiens | E84 | EDFYEDIFEEL | 2 | Oryza sativa subsp. japonica, Arabidopsis thaliana | E84 | EDFYEDIYEEL | 1 | Oryza sativa subsp. japonica | E84 | EDFFEDLFEEL | 1 | Arabidopsis thaliana | E88 | EEVFTEMEEKY | 2 | Homo sapiens, Homo sapiens | E88 | EDIFEEL-SKY | 1 | Oryza sativa subsp. japonica | E88 | EDIYEEL-SKF | 1 | Oryza sativa subsp. japonica | E88 | EDLFEEL-GKF | 1 | Arabidopsis thaliana | E88 | EDIFEEL-NKF | 1 | Arabidopsis thaliana | F135 | LQGRFYSGRPI | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | F135 | LNNRWFNGQPI | 2 | Homo sapiens, Homo sapiens | F135 | LTGRYYSGRPI | 1 | Oryza sativa subsp. japonica | G137 | NRWFNGQPIHA | 2 | Homo sapiens, Homo sapiens | G137 | GRFYSGRPIIA | 2 | Arabidopsis thaliana, Arabidopsis thaliana | G137 | GRYYSGRPIIV | 1 | Oryza sativa subsp. japonica | G137 | GRFYSGRPIIV | 1 | Oryza sativa subsp. japonica | H141 | NGQPIHAELSP | 2 | Homo sapiens, Homo sapiens | H141 | SGRPIIADFSP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | H141 | SGRPIIVEFSP | 1 | Oryza sativa subsp. japonica | H141 | SGRPIIVEYSP | 1 | Oryza sativa subsp. japonica | H77 | VEMQEHYDEFF | 2 | Homo sapiens, Homo sapiens | H77 | EKIQADFEDFY | 1 | Oryza sativa subsp. japonica | H77 | EKMQEHFEDFY | 1 | Oryza sativa subsp. japonica | H77 | RKIQEHFEDFF | 1 | Arabidopsis thaliana | H77 | SKIQDHFEDFY | 1 | Arabidopsis thaliana | I140 | FNGQPIHAELS | 2 | Homo sapiens, Homo sapiens | I140 | YSGRPIIADFS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I140 | YSGRPIIVEFS | 1 | Oryza sativa subsp. japonica | I140 | YSGRPIIVEYS | 1 | Oryza sativa subsp. japonica | L130 | KAVIDLNNRWF | 2 | Homo sapiens, Homo sapiens | L130 | AALQALQGRFY | 2 | Arabidopsis thaliana, Arabidopsis thaliana | L130 | RALQALTGRYY | 1 | Oryza sativa subsp. japonica | L130 | AAHNALQGRFY | 1 | Oryza sativa subsp. japonica | M89 | EVFTEMEEKYG | 2 | Homo sapiens, Homo sapiens | M89 | DIFEEL-SKYG | 1 | Oryza sativa subsp. japonica | M89 | DIYEEL-SKFG | 1 | Oryza sativa subsp. japonica | M89 | DLFEEL-GKFG | 1 | Arabidopsis thaliana | M89 | DIFEEL-NKFG | 1 | Arabidopsis thaliana | N131 | AVIDLNNRWFN | 2 | Homo sapiens, Homo sapiens | N131 | ALQALQGRFYS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N131 | ALQALTGRYYS | 1 | Oryza sativa subsp. japonica | N131 | AHNALQGRFYS | 1 | Oryza sativa subsp. japonica | N132 | VIDLNNRWFNG | 2 | Homo sapiens, Homo sapiens | N132 | LQALQGRFYSG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N132 | LQALTGRYYSG | 1 | Oryza sativa subsp. japonica | N132 | HNALQGRFYSG | 1 | Oryza sativa subsp. japonica | N136 | QGRFYSGRPII | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | N136 | NNRWFNGQPIH | 2 | Homo sapiens, Homo sapiens | N136 | TGRYYSGRPII | 1 | Oryza sativa subsp. japonica | P139 | WFNGQPIHAEL | 2 | Homo sapiens, Homo sapiens | P139 | FYSGRPIIADF | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P139 | YYSGRPIIVEF | 1 | Oryza sativa subsp. japonica | P139 | FYSGRPIIVEY | 1 | Oryza sativa subsp. japonica | R133 | IDLNNRWFNGQ | 2 | Homo sapiens, Homo sapiens | R133 | QALQGRFYSGR | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R133 | QALTGRYYSGR | 1 | Oryza sativa subsp. japonica | R133 | NALQGRFYSGR | 1 | Oryza sativa subsp. japonica | W134 | ALQGRFYSGRP | 3 | Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana | W134 | DLNNRWFNGQP | 2 | Homo sapiens, Homo sapiens | W134 | ALTGRYYSGRP | 1 | Oryza sativa subsp. japonica |
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