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mutLBSgeneDB |
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| Gene summary for ANXA6 |
 Gene summary |
| Basic gene Info. | Gene symbol | ANXA6 |
| Gene name | annexin A6 | |
| Synonyms | ANX6|CBP68 | |
| Cytomap | UCSC genome browser: 5q33.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001155.4, NM_001193544.1,NM_004033.2, | |
| Description | 67 kDa calelectrinCPB-IIannexin VI (p68)annexin-6calcium-binding protein p68calelectrincalphobindin IIcalphobindin-IIchromobindin-20lipocortin VIp68p70 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 114070 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000197043 | ||
| HPRD : 00231 | ||
| Vega : OTTHUMG00000164179 | ||
| Protein | UniProt: P08133 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ANXA6 | |
| BioGPS: 309 | ||
| Pathway | NCI Pathway Interaction Database: ANXA6 | |
| KEGG: ANXA6 | ||
| REACTOME: ANXA6 | ||
| Pathway Commons: ANXA6 | ||
| Context | iHOP: ANXA6 | |
| ligand binding site mutation search in PubMed: ANXA6 | ||
| UCL Cancer Institute: ANXA6 | ||
| 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 ANXA6 |
| 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 | T381 | E383K | COAD | 1 | M33 | T31A | KIRC | 1 | R270 | R270Q | STAD | 1 | M612 | M612T | 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 ANXA6 |
| 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 | T381 | E383K | -1.5483309 | M612 | M612T | -1.2783296 | R270 | R270Q | -1.090039 | M33 | T31A | -0.64326906 |
| (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 ANXA6 from PDB |
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| Differential gene expression and gene-gene network for ANXA6 |
| 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 ANXA6 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ANXA6 |
| 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 ANXA6 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 1m9i | A | M33 | CA | CALCIUM(2+) | 1m9i | A | M612 | CA | CALCIUM(2+) | 1m9i | A | R270 | CA | CALCIUM(2+) | 1m9i | A | T381 |
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| Conservation information for LBS of ANXA6 |
| Multiple alignments for P08133 in multiple species |
| LBS | AA sequence | # species | Species | D149 | ADIIGDTSGHF | 1 | Homo sapiens | D149 | EQMCSETSGFF | 1 | Drosophila melanogaster | D149 | ADVVGDTSGHF | 1 | Gallus gallus | D149 | SDIIGDTSGHF | 1 | Mus musculus | D149 | ADITGDTSGHF | 1 | Bos taurus | D308 | SMIKNDTSGEY | 3 | Homo sapiens, Mus musculus, Bos taurus | D308 | ----------- | 1 | Drosophila melanogaster | D308 | NMIKEDTSGEY | 1 | Gallus gallus | D656 | A-IEGDTSGDF | 2 | Homo sapiens, Mus musculus | D656 | AVVDAETSGDY | 1 | Drosophila melanogaster | D656 | M-IEKD-SGDY | 1 | Gallus gallus | D656 | A-IEGDTSGHF | 1 | Bos taurus | E420 | TDLKSEISGDL | 1 | Homo sapiens | E420 | ----------- | 1 | Drosophila melanogaster | E420 | ADLKSELSGSL | 1 | Gallus gallus | E420 | ADLKSEISGDL | 1 | Mus musculus | E420 | ADLKSELSGDL | 1 | Bos taurus | E449 | LKKAMEGAGTD | 3 | Homo sapiens, Mus musculus, Bos taurus | E449 | ----------- | 1 | Drosophila melanogaster | E449 | LRKAVEGDGTD | 1 | Gallus gallus | E77 | ADLKYELTGKF | 3 | Homo sapiens, Gallus gallus, Bos taurus | E77 | DDLKDELGGKF | 1 | Drosophila melanogaster | E77 | EDLKYELTGKF | 1 | Mus musculus | F36 | TAMKGFGSDKE | 2 | Homo sapiens, Mus musculus | F36 | AAMKGFGTDEQ | 1 | Drosophila melanogaster | F36 | NAMKGFGSDKD | 1 | Gallus gallus | F36 | NAMKGFGSDKE | 1 | Bos taurus | G109 | AISGIGTDEKC | 2 | Homo sapiens, Bos taurus | G109 | AMAGIGTEEAT | 1 | Drosophila melanogaster | G109 | AIAGIGTDEKC | 1 | Gallus gallus | G109 | AISGVGTDEKC | 1 | Mus musculus | G266 | FKAMKGLGTRD | 3 | Homo sapiens, Mus musculus, Bos taurus | G266 | ----------- | 1 | Drosophila melanogaster | G266 | YKAMKGLGTRD | 1 | Gallus gallus | G268 | AMKGLGTRDNT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | G268 | ----------- | 1 | Drosophila melanogaster | G35 | YTAMKGFGSDK | 2 | Homo sapiens, Mus musculus | G35 | RAAMKGFGTDE | 1 | Drosophila melanogaster | G35 | CNAMKGFGSDK | 1 | Gallus gallus | G35 | YNAMKGFGSDK | 1 | Bos taurus | G37 | AMKGFGSDKEA | 2 | Homo sapiens, Bos taurus | G37 | AMKGFGTDEQE | 1 | Drosophila melanogaster | G37 | AMKGFGSDKDA | 1 | Gallus gallus | G37 | AMKGFGSDKES | 1 | Mus musculus | G378 | RKAMKGLGTDE | 3 | Homo sapiens, Gallus gallus, Bos taurus | G378 | ----------- | 1 | Drosophila melanogaster | G378 | RKAMKGIGTDE | 1 | Mus musculus | G380 | AMKGLGTDEDT | 2 | Homo sapiens, Bos taurus | G380 | ----------- | 1 | Drosophila melanogaster | G380 | AMKGLGTDEGA | 1 | Gallus gallus | G380 | AMKGIGTDEAT | 1 | Mus musculus | G450 | KKAMEGAGTDE | 3 | Homo sapiens, Mus musculus, Bos taurus | G450 | ----------- | 1 | Drosophila melanogaster | G450 | RKAVEGDGTDE | 1 | Gallus gallus | K34 | LYTAMKGFGSD | 2 | Homo sapiens, Mus musculus | K34 | LRAAMKGFGTD | 1 | Drosophila melanogaster | K34 | LCNAMKGFGSD | 1 | Gallus gallus | K34 | LYNAMKGFGSD | 1 | Bos taurus | L267 | KAMKGLGTRDN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | L267 | ----------- | 1 | Drosophila melanogaster | L379 | KAMKGLGTDED | 2 | Homo sapiens, Bos taurus | L379 | ----------- | 1 | Drosophila melanogaster | L379 | KAMKGLGTDEG | 1 | Gallus gallus | L379 | KAMKGIGTDEA | 1 | Mus musculus | M264 | RLFKAMKGLGT | 3 | Homo sapiens, Mus musculus, Bos taurus | M264 | ----------- | 1 | Drosophila melanogaster | M264 | RLYKAMKGLGT | 1 | Gallus gallus | M33 | ALYTAMKGFGS | 2 | Homo sapiens, Mus musculus | M33 | VLRAAMKGFGT | 1 | Drosophila melanogaster | M33 | ALCNAMKGFGS | 1 | Gallus gallus | M33 | TLYNAMKGFGS | 1 | Bos taurus | M448 | QLKKAMEGAGT | 3 | Homo sapiens, Mus musculus, Bos taurus | M448 | ----------- | 1 | Drosophila melanogaster | M448 | QLRKAVEGDGT | 1 | Gallus gallus | M612 | KLYKSMKGAGT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | M612 | RLYKAMNGAGT | 1 | Drosophila melanogaster | R270 | KGLGTRDNTLI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | R270 | ----------- | 1 | Drosophila melanogaster | T269 | MKGLGTRDNTL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Bos taurus | T269 | ----------- | 1 | Drosophila melanogaster | T381 | MKGLGTDEDTI | 2 | Homo sapiens, Bos taurus | T381 | ----------- | 1 | Drosophila melanogaster | T381 | MKGLGTDEGAI | 1 | Gallus gallus | T381 | MKGIGTDEATI | 1 | Mus musculus |
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