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mutLBSgeneDB |
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| Gene summary for SIGLEC7 |
 Gene summary |
| Basic gene Info. | Gene symbol | SIGLEC7 |
| Gene name | sialic acid binding Ig-like lectin 7 | |
| Synonyms | AIRM1|CD328|CDw328|D-siglec|QA79|SIGLEC-7|SIGLEC19P|SIGLECP2|p75|p75/AIRM1 | |
| Cytomap | UCSC genome browser: 19q13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001277201.1, NM_014385.3,NM_016543.3,NR_102350.1, | |
| Description | AIRM-1QA79 membrane proteinadhesion inhibitory receptor molecule 1, siglec-7sialic acid binding immunoglobulin-like lectin 7sialic acid-binding Ig-like lectin 7 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604410 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000168995 | ||
| HPRD : 05102 | ||
| Vega : OTTHUMG00000182895 | ||
| Protein | UniProt: Q9Y286 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SIGLEC7 | |
| BioGPS: 27036 | ||
| Pathway | NCI Pathway Interaction Database: SIGLEC7 | |
| KEGG: SIGLEC7 | ||
| REACTOME: SIGLEC7 | ||
| Pathway Commons: SIGLEC7 | ||
| Context | iHOP: SIGLEC7 | |
| ligand binding site mutation search in PubMed: SIGLEC7 | ||
| UCL Cancer Institute: SIGLEC7 | ||
| 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 SIGLEC7 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R124 | R124C | SKCM | 3 | R124 | R124H | COAD | 1 | Y26 | K24N | LUSC | 1 | L98 | L98F | SKCM | 1 | E126,R124 | M125T | 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 SIGLEC7 |
| 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 | R124 | R124H | -1.2639869 | Y26 | K24N | -1.0339853 | R124 | R124C | -0.96856438 | L98 | L98F | -0.85130719 | R124 | M125T | -0.69534514 | E126 | M125T | -0.69534514 |
| (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 SIGLEC7 from PDB |
| PDB ID | PDB title | PDB structure | 1O7S | HIGH RESOLUTION STRUCTURE OF SIGLEC-7 |  |
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| Differential gene expression and gene-gene network for SIGLEC7 |
| 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 SIGLEC7 |
| 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 SIGLEC7 |
| 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 | DB03740 | 2-(Acetylamino)-2-Deoxy-a-D-Glucopyranose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SIGLEC7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAG | ALDEHYDO-N-ACETYL-D-GLUCOSAMINE | 2df3 | A | L98 | NXD | ALPHA METHYL -9-(AMINOOXALYL-AMINO)-9-DEOXYNEU5AC | 2g5r | A | R124 | SIA | N-ACETYLNEURAMINIC ACID | 2hrl | A | R124 | BGC | BETA-D-GLUCOSE | 2hrl | A | R124 | CEQ | ETHYL(TRIMETHYL)SILANE | 2hrl | A | R124 E126 | SIA | N-ACETYLNEURAMINIC ACID | 2df3 | A | Y26 R124 |
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| Conservation information for LBS of SIGLEC7 |
| Multiple alignments for Q9Y286 in multiple species |
| LBS | AA sequence | # species | Species |
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