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mutLBSgeneDB |
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| Gene summary for BAIAP2L1 |
 Gene summary |
| Basic gene Info. | Gene symbol | BAIAP2L1 |
| Gene name | BAI1-associated protein 2-like 1 | |
| Synonyms | IRTKS | |
| Cytomap | UCSC genome browser: 7q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018842.4, | |
| Description | BAI1-associated protein 2-like protein 1brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1insulin receptor tyrosine kinase substrate | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611877 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000006453 | ||
| HPRD : 11270 | ||
| Vega : OTTHUMG00000165117 | ||
| Protein | UniProt: Q9UHR4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BAIAP2L1 | |
| BioGPS: 55971 | ||
| Pathway | NCI Pathway Interaction Database: BAIAP2L1 | |
| KEGG: BAIAP2L1 | ||
| REACTOME: BAIAP2L1 | ||
| Pathway Commons: BAIAP2L1 | ||
| Context | iHOP: BAIAP2L1 | |
| ligand binding site mutation search in PubMed: BAIAP2L1 | ||
| UCL Cancer Institute: BAIAP2L1 | ||
| 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:0009617 | response to bacterium | 19366662 | GO:0030838 | positive regulation of actin filament polymerization | 21098279 |
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| Ligand binding site mutations for BAIAP2L1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W378 | W378C | COAD | 1 | W391 | G390R | GBM | 1 | P393 | P393S | HNSC | 1 | I371 | E373K | LAML | 1 | Y396 | T397M | STAD | 1 | F348 | P349Q | 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 BAIAP2L1 |
| 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 | F348 | P349Q | -1.4142565 | W378 | W378C | -1.2682492 | I371 | E373K | -1.1275132 | P393 | P393S | -0.96008521 | W391 | G390R | -0.44599645 | Y396 | T397M | -0.27775451 |
| (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 BAIAP2L1 from PDB |
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| Differential gene expression and gene-gene network for BAIAP2L1 |
| 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 BAIAP2L1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0003873 | Arthritis, Rheumatoid | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BAIAP2L1 |
| 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 BAIAP2L1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (HIS,ILE,PRO,PRO,ALA,PRO,ASN,TRP,PRO,ALA,PRO,THR,PRO,PRO,VAL,GLN,ASN) | 2kxc | A | F348 I371 W378 W391 P393 Y396 |
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| Conservation information for LBS of BAIAP2L1 |
| Multiple alignments for Q9UHR4 in multiple species |
| LBS | AA sequence | # species | Species | D376 | IPEEKDGWLYG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F348 | KVKTIFPHTAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G377 | PEEKDGWLYGE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I347 | QKVKTIFPHTA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I371 | VLTLLIPEEKD | 2 | Mus musculus, Rattus norvegicus | I371 | VITLLIPEEKD | 1 | Homo sapiens | L370 | DVLTLLIPEEK | 2 | Mus musculus, Rattus norvegicus | L370 | DVITLLIPEEK | 1 | Homo sapiens | P393 | ARGWFPSSYTK | 2 | Homo sapiens, Mus musculus | P393 | VRGWFPSSYTK | 1 | Rattus norvegicus | S395 | GWFPSSYTKLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W378 | EEKDGWLYGEH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W391 | SKARGWFPSSY | 1 | Homo sapiens | W391 | TKARGWFPSSY | 1 | Mus musculus | W391 | TKVRGWFPSSY | 1 | Rattus norvegicus | Y380 | KDGWLYGEHDT | 2 | Mus musculus, Rattus norvegicus | Y380 | KDGWLYGEHDV | 1 | Homo sapiens | Y396 | WFPSSYTKLLE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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