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mutLBSgeneDB |
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| Gene summary for SOS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SOS1 |
| Gene name | son of sevenless homolog 1 (Drosophila) | |
| Synonyms | GF1|GGF1|GINGF|HGF|NS4 | |
| Cytomap | UCSC genome browser: 2p21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005633.3, | |
| Description | SOS-1gingival fibromatosis, hereditary, 1guanine nucleotide exchange factorson of sevenless homolog 1 | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 182530 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115904 | ||
| HPRD : 01681 | ||
| Vega : OTTHUMG00000102109 | ||
| Protein | UniProt: Q07889 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SOS1 | |
| BioGPS: 6654 | ||
| Pathway | NCI Pathway Interaction Database: SOS1 | |
| KEGG: SOS1 | ||
| REACTOME: SOS1 | ||
| Pathway Commons: SOS1 | ||
| Context | iHOP: SOS1 | |
| ligand binding site mutation search in PubMed: SOS1 | ||
| UCL Cancer Institute: SOS1 | ||
| 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 SOS1 |
| 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 | V852 | A850S | GBM | 1 | F890 | E891Q | HNSC | 1 | E864 | E864Q | HNSC | 1 | N879 | S880L | LUAD | 1 | P1042 | S1043P | 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 SOS1 |
| 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 | N879 | S880L | 0.048571267 | E864 | E864Q | -1.4670739 | V852 | A850S | -1.0524471 | F890 | E891Q | -0.9960425 | P1042 | S1043P | -0.67563519 |
| (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 SOS1 from PDB |
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| Differential gene expression and gene-gene network for SOS1 |
| 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 SOS1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0028326 | Noonan Syndrome | 34 | Biomarker, GeneticVariation |
| umls:C0399440 | Fibromatosis, Gingival, Type 1 | 7 | Biomarker, GeneticVariation |
| umls:C1853120 | Noonan Syndrome 4 | 6 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SOS1 |
| 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 SOS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | RV1 | N-[(4-AMINOPHENYL)SULFONYL]CYCLOPROPANECARBOXAMIDE | 4ury | S | E864 P1042 | 2PX | N-{1-[(5-METHYL-1H-INDOL-3-YL)METHYL]PIPERIDIN-4-YL}-L- TRYPTOPHANAMIDE | 4nyi | S | F890 | DXO | 2-(2,6-DIMETHYLPHENYL)-4-(METHYLSULFANYL)-6- (PIPERAZIN-1-YL)-1,3,5-TRIAZINE | 4urw | S | F890 | FK1 | 6-BROMO-1H-INDOLE | 4urx | S | N879 | 2PZ | N-[1-(1H-INDOL-3-YLMETHYL)PIPERIDIN-4-YL]GLYCINAMIDE | 4nyj | S | N879 F890 | RND | N-[1-(1H-INDOL-3-YLMETHYL)PIPERIDIN-4-YL]-L- TRYPTOPHANAMIDE | 4nym | S | N879 F890 | 6W2 | 4-METHOXY-N-(1,3-THIAZOL-2-YL)BENZENESULFONAMIDE | 4uru | S | N879 F890 | UMK | 4-(4-BROMOPHENYL)PIPERIDIN-4-OL | 4urv | S | N879 F890 | HXY | 1-(4-BROMOBENZYL)PYRROLIDINE | 4urx | S | V852 F890 |
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| Conservation information for LBS of SOS1 |
| Multiple alignments for Q07889 in multiple species |
| LBS | AA sequence | # species | Species | D887 | PVYRLDHTFEQ | 2 | Homo sapiens, Mus musculus | D887 | SVYRLRWTFQG | 1 | Drosophila melanogaster | D910 | HELSEDHYKKY | 2 | Homo sapiens, Mus musculus | D910 | RELSDDHLKKY | 1 | Drosophila melanogaster | E864 | LQVFQELNNFN | 2 | Homo sapiens, Mus musculus | E864 | MMVMLELNNFN | 1 | Drosophila melanogaster | E902 | QKKILEEAHEL | 2 | Homo sapiens, Mus musculus | E902 | YRKFLEECREL | 1 | Drosophila melanogaster | E909 | AHELSEDHYKK | 2 | Homo sapiens, Mus musculus | E909 | CRELSDDHLKK | 1 | Drosophila melanogaster | F890 | RLDHTFEQIPS | 2 | Homo sapiens, Mus musculus | F890 | RLRWTFQGLPE | 1 | Drosophila melanogaster | H905 | ILEEAHELSED | 2 | Homo sapiens, Mus musculus | H905 | FLEECRELSDD | 1 | Drosophila melanogaster | H911 | ELSEDHYKKYL | 2 | Homo sapiens, Mus musculus | H911 | ELSDDHLKKYQ | 1 | Drosophila melanogaster | I782 | LTLHPIEIARQ | 2 | Homo sapiens, Mus musculus | I782 | LTLHPLELARQ | 1 | Drosophila melanogaster | I893 | HTFEQIPSRQK | 2 | Homo sapiens, Mus musculus | I893 | WTFQGLPERYR | 1 | Drosophila melanogaster | K898 | IPSRQKKILEE | 2 | Homo sapiens, Mus musculus | K898 | LPERYRKFLEE | 1 | Drosophila melanogaster | L865 | QVFQELNNFNG | 2 | Homo sapiens, Mus musculus | L865 | MVMLELNNFNG | 1 | Drosophila melanogaster | L886 | SPVYRLDHTFE | 2 | Homo sapiens, Mus musculus | L886 | ASVYRLRWTFQ | 1 | Drosophila melanogaster | L901 | RQKKILEEAHE | 2 | Homo sapiens, Mus musculus | L901 | RYRKFLEECRE | 1 | Drosophila melanogaster | M878 | EVVSAMNSSPV | 2 | Homo sapiens, Mus musculus | M878 | SIVAAMGTASV | 1 | Drosophila melanogaster | N879 | VVSAMNSSPVY | 2 | Homo sapiens, Mus musculus | N879 | IVAAMGTASVY | 1 | Drosophila melanogaster | P1042 | SPGVRP----- | 2 | Homo sapiens, Mus musculus | P1042 | SPGIKPRRQNQ | 1 | Drosophila melanogaster | P759 | FQSSPPTVEWH | 2 | Homo sapiens, Mus musculus | P759 | YGHDPPPIEHH | 1 | Drosophila melanogaster | R1041 | KSPGVRP---- | 2 | Homo sapiens, Mus musculus | R1041 | KSPGIKPRRQN | 1 | Drosophila melanogaster | R786 | PIEIARQLTLL | 2 | Homo sapiens, Mus musculus | R786 | PLELARQLTLL | 1 | Drosophila melanogaster | S908 | EAHELSEDHYK | 2 | Homo sapiens, Mus musculus | S908 | ECRELSDDHLK | 1 | Drosophila melanogaster | T889 | YRLDHTFEQIP | 2 | Homo sapiens, Mus musculus | T889 | YRLRWTFQGLP | 1 | Drosophila melanogaster | V1040 | LKSPGVRP--- | 2 | Homo sapiens, Mus musculus | V1040 | LKSPGIKPRRQ | 1 | Drosophila melanogaster | V852 | ERVAVVSRIIE | 2 | Homo sapiens, Mus musculus | V852 | ERLAIMQRAIE | 1 | Drosophila melanogaster | V883 | MNSSPVYRLDH | 2 | Homo sapiens, Mus musculus | V883 | MGTASVYRLRW | 1 | Drosophila melanogaster | Y884 | NSSPVYRLDHT | 2 | Homo sapiens, Mus musculus | Y884 | GTASVYRLRWT | 1 | Drosophila melanogaster | Y912 | LSEDHYKKYLA | 2 | Homo sapiens, Mus musculus | Y912 | LSDDHLKKYQE | 1 | Drosophila melanogaster |
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