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mutLBSgeneDB |
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| Gene summary for PSIP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | PSIP1 |
| Gene name | PC4 and SFRS1 interacting protein 1 | |
| Synonyms | DFS70|LEDGF|PAIP|PSIP2|p52|p75 | |
| Cytomap | UCSC genome browser: 9p22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001128217.1, NM_021144.3,NM_033222.3, | |
| Description | CLL-associated antigen KW-7DFS 70PC4 and SFRS1-interacting proteindense fine speckles 70 kDa proteinlens epithelium-derived growth factortranscriptional coactivator p52/p75transcriptional coactivator p75/p52 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603620 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000164985 | ||
| HPRD : 04688 | ||
| Vega : OTTHUMG00000021021 | ||
| Protein | UniProt: O75475 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_PSIP1 | |
| BioGPS: 11168 | ||
| Pathway | NCI Pathway Interaction Database: PSIP1 | |
| KEGG: PSIP1 | ||
| REACTOME: PSIP1 | ||
| Pathway Commons: PSIP1 | ||
| Context | iHOP: PSIP1 | |
| ligand binding site mutation search in PubMed: PSIP1 | ||
| UCL Cancer Institute: PSIP1 | ||
| 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 | GO:0000395 | mRNA 5'-splice site recognition | 9885563 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 9822615 |
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| Ligand binding site mutations for PSIP1 |
| 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 | I403 | I403M | LUAD | 1 | I403,R405 | R404P | LUSC | 1 | K364 | K364R | SKCM | 1 | I403,R405 | R404W | STAD | 1 | T399 | I397S | UCEC | 1 | I403,R405 | R404Q | 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 PSIP1 |
| 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 | R405 | R404Q | -1.4055324 | I403 | R404Q | -1.4055324 | I403 | R404P | -1.1527041 | R405 | R404P | -1.1527041 | T399 | I397S | -1.1053833 | I403 | R404W | -1.0567653 | R405 | R404W | -1.0567653 | I403 | I403M | -1.0363291 | K364 | K364R | -0.60819633 |
| (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 PSIP1 from PDB |
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| Differential gene expression and gene-gene network for PSIP1 |
| 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 PSIP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 6 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for PSIP1 |
| 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 PSIP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GGB | L-CANAVANINE | 3u88 | C | K364 | III | Peptide ligand (GLY,GLY,SER,GLY,GLU,ASP,GLU,GLN,PHE,LEU,GLY,PHE,GLY,SER,ASP,GLU,GLU,VAL,ARG,VAL,ARG) | 2msr | B | T399 I403 | III | Peptide ligand (GLU,GLY,GLU,SER,GLU,THR,GLU,SER,PHE,TYR,GLY,PHE,GLU,GLU,ALA,ASP) | 2n3a | B | T399 I403 R405 |
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| Conservation information for LBS of PSIP1 |
| Multiple alignments for O75475 in multiple species |
| LBS | AA sequence | # species | Species | F406 | KKIRRFKVSQV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F406 | KKIRKFKVSQV | 1 | Gallus gallus | I365 | KNSLKIDNLDV | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | I403 | TTLKKIRRFKV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I403 | LTLKKIRKFKV | 1 | Gallus gallus | K360 | IHAEIKNSLKI | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K364 | IKNSLKIDNLD | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | K402 | ITTLKKIRRFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K402 | ILTLKKIRKFK | 1 | Gallus gallus | L363 | EIKNSLKIDNL | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | L368 | LKIDNLDVNRC | 5 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus | R405 | LKKIRRFKVSQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R405 | LKKIRKFKVSQ | 1 | Gallus gallus | T399 | TEMITTLKKIR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T399 | TEMILTLKKIR | 1 | Gallus gallus | V408 | IRRFKVSQVIM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V408 | IRKFKVSQVIM | 1 | Gallus gallus |
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