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mutLBSgeneDB |
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| Gene summary for LALBA |
 Gene summary |
| Basic gene Info. | Gene symbol | LALBA |
| Gene name | lactalbumin, alpha- | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 12q13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002289.2, | |
| Description | alpha-lactalbuminlactose synthase B proteinlysozyme-like protein 7 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 149750 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167531 | ||
| HPRD : 01024 | ||
| Vega : OTTHUMG00000170391 | ||
| Protein | UniProt: P00709 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LALBA | |
| BioGPS: 3906 | ||
| Pathway | NCI Pathway Interaction Database: LALBA | |
| KEGG: LALBA | ||
| REACTOME: LALBA | ||
| Pathway Commons: LALBA | ||
| Context | iHOP: LALBA | |
| ligand binding site mutation search in PubMed: LALBA | ||
| UCL Cancer Institute: LALBA | ||
| 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 LALBA |
| 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 | K98 | D97N | SKCM | 1 | D106 | D106G | 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 LALBA |
| 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 | K98 | D97N | -0.98411994 | D106 | D106G | -0.86159012 |
| (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 LALBA from PDB |
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| Differential gene expression and gene-gene network for LALBA |
| 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 LALBA |
| 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 LALBA |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB03796 | Palmitic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LALBA go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of LALBA |
| Multiple alignments for P00709 in multiple species |
| LBS | AA sequence | # species | Species | D101 | CDKFLDDDLTD | 2 | Bos taurus, Canis lupus familiaris | D101 | CDKFLDDDITD | 1 | Homo sapiens | D101 | CDKLLDDELDD | 1 | Mus musculus | D101 | CDKFLDDELAD | 1 | Rattus norvegicus | D102 | DKFLDDDLTDD | 2 | Bos taurus, Canis lupus familiaris | D102 | DKFLDDDITDD | 1 | Homo sapiens | D102 | DKLLDDELDDD | 1 | Mus musculus | D102 | DKFLDDELADD | 1 | Rattus norvegicus | D103 | KFLDDDITDDI | 1 | Homo sapiens | D103 | KLLDDELDDDI | 1 | Mus musculus | D103 | KFLDDELADDI | 1 | Rattus norvegicus | D103 | KFLDDDLTDDI | 1 | Bos taurus | D103 | KFLDDDLTDDM | 1 | Canis lupus familiaris | D106 | DDDITDDIMCA | 1 | Homo sapiens | D106 | DDELDDDIACA | 1 | Mus musculus | D106 | DDELADDIVCA | 1 | Rattus norvegicus | D106 | DDDLTDDIMCV | 1 | Bos taurus | D106 | DDDLTDDMICA | 1 | Canis lupus familiaris | D107 | DDITDDIMCAK | 1 | Homo sapiens | D107 | DELDDDIACAK | 1 | Mus musculus | D107 | DELADDIVCAK | 1 | Rattus norvegicus | D107 | DDLTDDIMCVK | 1 | Bos taurus | D107 | DDLTDDMICAK | 1 | Canis lupus familiaris | F99 | ISCDKFLDDDL | 2 | Bos taurus, Canis lupus familiaris | F99 | ISCDKFLDDDI | 1 | Homo sapiens | F99 | ISCDKLLDDEL | 1 | Mus musculus | F99 | ISCDKFLDDEL | 1 | Rattus norvegicus | I104 | FLDDDITDDIM | 1 | Homo sapiens | I104 | LLDDELDDDIA | 1 | Mus musculus | I104 | FLDDELADDIV | 1 | Rattus norvegicus | I104 | FLDDDLTDDIM | 1 | Bos taurus | I104 | FLDDDLTDDMI | 1 | Canis lupus familiaris | K98 | DISCDKFLDDD | 2 | Homo sapiens, Canis lupus familiaris | K98 | GISCDKLLDDE | 1 | Mus musculus | K98 | DISCDKFLDDE | 1 | Rattus norvegicus | K98 | NISCDKFLDDD | 1 | Bos taurus | L100 | SCDKFLDDDLT | 2 | Bos taurus, Canis lupus familiaris | L100 | SCDKFLDDDIT | 1 | Homo sapiens | L100 | SCDKLLDDELD | 1 | Mus musculus | L100 | SCDKFLDDELA | 1 | Rattus norvegicus | Q58 | SGYDTQAIVEN | 1 | Homo sapiens | Q58 | SGYDTQAVVND | 1 | Mus musculus | Q58 | SGYDSQAIVKN | 1 | Rattus norvegicus | Q58 | SGYDTQAIVQN | 1 | Bos taurus | Q58 | SGYDTQTIVNN | 1 | Canis lupus familiaris | T57 | TSGYDTQAIVE | 1 | Homo sapiens | T57 | TSGYDTQAVVN | 1 | Mus musculus | T57 | TSGYDSQAIVK | 1 | Rattus norvegicus | T57 | TSGYDTQAIVQ | 1 | Bos taurus | T57 | TSGYDTQTIVN | 1 | Canis lupus familiaris |
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