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mutLBSgeneDB |
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| Gene summary for BANF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BANF1 |
| Gene name | barrier to autointegration factor 1 | |
| Synonyms | BAF|BCRP1|D14S1460|NGPS | |
| Cytomap | UCSC genome browser: 11q13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001143985.1, NM_003860.3, | |
| Description | barrier-to-autointegration factorbreakpoint cluster region protein 1 | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 603811 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000175334 | ||
| HPRD : 04817 | ||
| Vega : OTTHUMG00000166749 | ||
| Protein | UniProt: O75531 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BANF1 | |
| BioGPS: 8815 | ||
| Pathway | NCI Pathway Interaction Database: BANF1 | |
| KEGG: BANF1 | ||
| REACTOME: BANF1 | ||
| Pathway Commons: BANF1 | ||
| Context | iHOP: BANF1 | |
| ligand binding site mutation search in PubMed: BANF1 | ||
| UCL Cancer Institute: BANF1 | ||
| 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 BANF1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N70 | A69T | COAD | 1 | Q5 | Q5P | COAD | 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 BANF1 |
| 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 | N70 | A69T | -0.8137017 | Q5 | Q5P | -0.61638055 |
| (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 BANF1 from PDB |
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| Differential gene expression and gene-gene network for BANF1 |
| 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 BANF1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3151446 | NESTOR-GUILLERMO PROGERIA SYNDROME | 2 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BANF1 |
| 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 BANF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2bzf | A | N70 | NUC | Nucleic Acids | 2bzf | A | Q5 |
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| Conservation information for LBS of BANF1 |
| Multiple alignments for O75531 in multiple species |
| LBS | AA sequence | # species | Species | A71 | TCGANAKQSRD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A71 | TAGVTANHAKT | 1 | Caenorhabditis elegans | A71 | VCHASSKQASD | 1 | Drosophila melanogaster | A71 | TCGANTKQQGD | 1 | Danio rerio | E28 | LAGIGEVLGKK | 2 | Homo sapiens, Bos taurus | E28 | IAGIGPTYGTK | 1 | Caenorhabditis elegans | E28 | LAGIGETLGGR | 1 | Drosophila melanogaster | E28 | LAGIGEVLGKR | 1 | Danio rerio | E28 | LAGIGDVLSKR | 1 | Mus musculus | E28 | LAGIGDALGKR | 1 | Rattus norvegicus | G25 | VGSLAGIGEVL | 2 | Homo sapiens, Bos taurus | G25 | VTCIAGIGPTY | 1 | Caenorhabditis elegans | G25 | VTELAGIGETL | 1 | Drosophila melanogaster | G25 | VMALAGIGEVL | 1 | Danio rerio | G25 | VGSLAGIGDVL | 1 | Mus musculus | G25 | VGSLAGIGDAL | 1 | Rattus norvegicus | G27 | SLAGIGEVLGK | 2 | Homo sapiens, Bos taurus | G27 | CIAGIGPTYGT | 1 | Caenorhabditis elegans | G27 | ELAGIGETLGG | 1 | Drosophila melanogaster | G27 | ALAGIGEVLGK | 1 | Danio rerio | G27 | SLAGIGDVLSK | 1 | Mus musculus | G27 | SLAGIGDALGK | 1 | Rattus norvegicus | K6 | MTTSQKHRDFV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K6 | MSTSVKHREFV | 1 | Caenorhabditis elegans | K6 | SGTSQKHRNFV | 1 | Drosophila melanogaster | K6 | SSTSQKHKDFV | 1 | Danio rerio | K72 | CGANAKQSRDC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K72 | AGVTANHAKTA | 1 | Caenorhabditis elegans | K72 | CHASSKQASDC | 1 | Drosophila melanogaster | K72 | CGANTKQQGDC | 1 | Danio rerio | L30 | GIGEVLGKKLE | 2 | Homo sapiens, Bos taurus | L30 | GIGPTYGTKLT | 1 | Caenorhabditis elegans | L30 | GIGETLGGRLK | 1 | Drosophila melanogaster | L30 | GIGEVLGKRLE | 1 | Danio rerio | L30 | GIGDVLSKRLE | 1 | Mus musculus | L30 | GIGDALGKRLE | 1 | Rattus norvegicus | N70 | DTCGANAKQSR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N70 | ETAGVTANHAK | 1 | Caenorhabditis elegans | N70 | EVCHASSKQAS | 1 | Drosophila melanogaster | N70 | DTCGANTKQQG | 1 | Danio rerio | Q5 | -MTTSQKHRDF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Q5 | -MSTSVKHREF | 1 | Caenorhabditis elegans | Q5 | MSGTSQKHRNF | 1 | Drosophila melanogaster | Q5 | MSSTSQKHKDF | 1 | Danio rerio | R75 | NAKQSRDCFGC | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R75 | TANHAKTAFNC | 1 | Caenorhabditis elegans | R75 | SSKQASDCYNC | 1 | Drosophila melanogaster | R75 | NTKQQGDCYSC | 1 | Danio rerio | S4 | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Rattus norvegicus | V29 | AGIGEVLGKKL | 2 | Homo sapiens, Bos taurus | V29 | AGIGPTYGTKL | 1 | Caenorhabditis elegans | V29 | AGIGETLGGRL | 1 | Drosophila melanogaster | V29 | AGIGEVLGKRL | 1 | Danio rerio | V29 | AGIGDVLSKRL | 1 | Mus musculus | V29 | AGIGDALGKRL | 1 | Rattus norvegicus |
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