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mutLBSgeneDB |
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| Gene summary for C1S |
 Gene summary |
| Basic gene Info. | Gene symbol | C1S |
| Gene name | complement component 1, s subcomponent | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 12p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001734.3, NM_201442.2, | |
| Description | C1 esterasebasic proline-rich peptide IB-1complement C1s subcomponentcomplement component 1 subcomponent s | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 120580 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000182326 | ||
| HPRD : 00397 | ||
| Vega : OTTHUMG00000150305 | ||
| Protein | UniProt: P09871 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_C1S | |
| BioGPS: 716 | ||
| Pathway | NCI Pathway Interaction Database: C1S | |
| KEGG: C1S | ||
| REACTOME: C1S | ||
| Pathway Commons: C1S | ||
| Context | iHOP: C1S | |
| ligand binding site mutation search in PubMed: C1S | ||
| UCL Cancer Institute: C1S | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_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 C1S |
| 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 | N670 | K669N | UCEC | 2 | H511 | P512L | GBM | 1 | H511 | P512L | LUAD | 1 | G153 | G153D | SKCM | 1 | N528 | I530N | SKCM | 1 | E226 | V225A | STAD | 1 | Y67 | A66V | 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 C1S |
| 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 | H511 | P512L | 0.066132723 | G153 | G153D | -1.3008252 | N528 | I530N | -1.2741828 | Y67 | A66V | -0.97353508 | N670 | K669N | -0.76193806 | E226 | V225A | -0.70744427 |
| (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 C1S from PDB |
| PDB ID | PDB title | PDB structure | 1ELV | CRYSTAL STRUCTURE OF THE CATALYTIC DOMAIN OF HUMAN COMPLEMENT C1S PROTEASE |  |
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| Differential gene expression and gene-gene network for C1S |
| 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 C1S |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004364 | Autoimmune Diseases | 1 | Biomarker |
| umls:C0677607 | Hashimoto Disease | 1 | Biomarker |
| umls:C0241910 | Hepatitis, Autoimmune | 1 | Biomarker |
| umls:C2717905 | Hereditary Angioedema Types I and II | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for C1S |
| 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 |
| Approved | DB00002 | Cetuximab | Biotech |  |
| Approved|investigational | DB00005 | Etanercept | Biotech |  |
| Approved | DB00051 | Adalimumab | Biotech |  |
| Approved | DB00054 | Abciximab | Biotech |  |
| Approved|investigational|withdrawn | DB00056 | Gemtuzumab ozogamicin | Biotech |  |
| Approved|investigational | DB00072 | Trastuzumab | Biotech |  |
| Approved | DB00073 | Rituximab | Biotech |  |
| Approved|investigational | DB00074 | Basiliximab | Biotech |  |
| Approved|investigational | DB00075 | Muromonab | Biotech |  |
| Approved | DB00078 | Ibritumomab tiuxetan | Biotech |  |
| Experimental | DB02371 | 2-(2-Hydroxy-1,1-Dihydroxymethyl-Ethylamino)-Ethanesulfonic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of C1S 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 C1S |
| Multiple alignments for P09871 in multiple species |
| LBS | AA sequence | # species | Species | A404 | GEYRCAANGRW | 2 | Mus musculus, Mus musculus | A404 | GEYHCAGNGSW | 1 | Homo sapiens | A404 | EVYHCSGNGSW | 1 | Bos taurus | A404 | GEYHCAANGSW | 1 | Rattus norvegicus | D113 | VVFTSDFSNEE | 2 | Rattus norvegicus, Mus musculus | D113 | VIFKSDFSNEE | 1 | Homo sapiens | D113 | VIFRSDFSNEE | 1 | Bos taurus | D113 | VVFTSDFSIEE | 1 | Mus musculus | D131 | YYVATDINECT | 1 | Homo sapiens | D131 | YYVAEDIDECT | 1 | Bos taurus | D131 | YYSAVDVNECT | 1 | Rattus norvegicus | D131 | YYTAIDINECT | 1 | Mus musculus | D131 | YYTAIDVNECT | 1 | Mus musculus | D236 | EGNCPDSLTFA | 2 | Mus musculus, Mus musculus | D236 | AGNCLDSLVFV | 1 | Homo sapiens | D236 | EGHCPDSLLFV | 1 | Bos taurus | D236 | EGNCHDSLTFA | 1 | Rattus norvegicus | D275 | IVFQTDLMGQK | 2 | Mus musculus, Mus musculus | D275 | IIFQTDLTGQK | 1 | Homo sapiens | D275 | IIFQTDGSEQR | 1 | Bos taurus | D275 | IVFQTDLTGQN | 1 | Rattus norvegicus | D673 | VKNYVDWILKT | 3 | Rattus norvegicus, Mus musculus, Mus musculus | D673 | VKNYVDWIMKT | 1 | Homo sapiens | D673 | VKNYVDWIRKT | 1 | Bos taurus | D68 | ENCAYDSVQII | 2 | Homo sapiens, Rattus norvegicus | D68 | ESCAYDSVQII | 2 | Mus musculus, Mus musculus | D68 | ENCSYDSVQIM | 1 | Bos taurus | E117 | SDFSNEERFTG | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus | E117 | SDFSIEEQFTG | 1 | Mus musculus | E134 | ATDINECTDFV | 1 | Homo sapiens | E134 | AEDIDECTAFA | 1 | Bos taurus | E134 | AVDVNECTDFT | 1 | Rattus norvegicus | E134 | AIDINECTDFT | 1 | Mus musculus | E134 | AIDVNECTDFT | 1 | Mus musculus | E226 | EDFDVEPADSE | 4 | Bos taurus, Rattus norvegicus, Mus musculus, Mus musculus | E226 | EDFDVEAADSA | 1 | Homo sapiens | E60 | THLDIELSENC | 2 | Homo sapiens, Bos taurus | E60 | THVDIEPSESC | 2 | Mus musculus, Mus musculus | E60 | THLDMELSENC | 1 | Rattus norvegicus | F114 | VFTSDFSNEER | 2 | Rattus norvegicus, Mus musculus | F114 | IFKSDFSNEER | 1 | Homo sapiens | F114 | IFRSDFSNEER | 1 | Bos taurus | F114 | VFTSDFSIEEQ | 1 | Mus musculus | F150 | HFCNNFIGGYF | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Mus musculus | F150 | HFCNNFLGGYF | 1 | Bos taurus | G152 | CNNFIGGYFCS | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Mus musculus | G152 | CNNFLGGYFCS | 1 | Bos taurus | G153 | NNFIGGYFCSC | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Mus musculus | G153 | NNFLGGYFCSC | 1 | Bos taurus | G278 | QTDLMGQKKGW | 2 | Mus musculus, Mus musculus | G278 | QTDLTGQKKGW | 1 | Homo sapiens | G278 | QTDGSEQRKGW | 1 | Bos taurus | G278 | QTDLTGQNKGW | 1 | Rattus norvegicus | H402 | EGGEYRCAANG | 2 | Mus musculus, Mus musculus | H402 | GGGEYHCAGNG | 1 | Homo sapiens | H402 | GSEVYHCSGNG | 1 | Bos taurus | H402 | EGGEYHCAANG | 1 | Rattus norvegicus | H511 | EHVFIHPGWKL | 1 | Homo sapiens | H511 | ERVFIHPGWEV | 1 | Bos taurus | H511 | ERVIIHPSWKQ | 1 | Rattus norvegicus | H511 | KRVFIHPSWKK | 1 | Mus musculus | H511 | KRVIIHPGWKE | 1 | Mus musculus | I132 | YVATDINECTD | 1 | Homo sapiens | I132 | YVAEDIDECTA | 1 | Bos taurus | I132 | YSAVDVNECTD | 1 | Rattus norvegicus | I132 | YTAIDINECTD | 1 | Mus musculus | I132 | YTAIDVNECTD | 1 | Mus musculus | N116 | TSDFSNEERFT | 2 | Rattus norvegicus, Mus musculus | N116 | KSDFSNEERFT | 1 | Homo sapiens | N116 | RSDFSNEERFT | 1 | Bos taurus | N116 | TSDFSIEEQFT | 1 | Mus musculus | N149 | SHFCNNFIGGY | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Mus musculus | N149 | SHFCNNFLGGY | 1 | Bos taurus | N528 | RTNFDNDIALV | 4 | Homo sapiens, Rattus norvegicus, Mus musculus, Mus musculus | N528 | RKNFDNDIALV | 1 | Bos taurus | N615 | YVFTDNMICAG | 2 | Rattus norvegicus, Mus musculus | N615 | YVFTPNMICAG | 1 | Homo sapiens | N615 | FVFTENMICAG | 1 | Bos taurus | N615 | YVITDNMICAG | 1 | Mus musculus | N670 | YTKVKNYVDWI | 3 | Rattus norvegicus, Mus musculus, Mus musculus | N670 | YTRVKNYVDWI | 2 | Homo sapiens, Bos taurus | Q279 | TDLMGQKKGWK | 2 | Mus musculus, Mus musculus | Q279 | TDLTGQKKGWK | 1 | Homo sapiens | Q279 | TDGSEQRKGWK | 1 | Bos taurus | Q279 | TDLTGQNKGWK | 1 | Rattus norvegicus | S112 | QVVFTSDFSNE | 2 | Rattus norvegicus, Mus musculus | S112 | QVIFKSDFSNE | 1 | Homo sapiens | S112 | QVIFRSDFSNE | 1 | Bos taurus | S112 | QVVFTSDFSIE | 1 | Mus musculus | S115 | FTSDFSNEERF | 2 | Rattus norvegicus, Mus musculus | S115 | FKSDFSNEERF | 1 | Homo sapiens | S115 | FRSDFSNEERF | 1 | Bos taurus | S115 | FTSDFSIEEQF | 1 | Mus musculus | S34 | PQAYPNDVVKS | 2 | Mus musculus, Mus musculus | S34 | PQAYPSEVEKS | 1 | Homo sapiens | S34 | PQVYPNEVEKS | 1 | Bos taurus | S34 | PQAYPNEVVKT | 1 | Rattus norvegicus | T277 | FQTDLMGQKKG | 2 | Mus musculus, Mus musculus | T277 | FQTDLTGQKKG | 1 | Homo sapiens | T277 | FQTDGSEQRKG | 1 | Bos taurus | T277 | FQTDLTGQNKG | 1 | Rattus norvegicus | W674 | KNYVDWILKTM | 3 | Rattus norvegicus, Mus musculus, Mus musculus | W674 | KNYVDWIMKTM | 1 | Homo sapiens | W674 | KNYVDWIRKTM | 1 | Bos taurus | Y32 | NYPQAYPNDVV | 2 | Mus musculus, Mus musculus | Y32 | NYPQAYPSEVE | 1 | Homo sapiens | Y32 | NYPQVYPNEVE | 1 | Bos taurus | Y32 | NYPQAYPNEVV | 1 | Rattus norvegicus | Y67 | SENCAYDSVQI | 2 | Homo sapiens, Rattus norvegicus | Y67 | SESCAYDSVQI | 2 | Mus musculus, Mus musculus | Y67 | SENCSYDSVQI | 1 | Bos taurus | Y671 | TKVKNYVDWIL | 3 | Rattus norvegicus, Mus musculus, Mus musculus | Y671 | TRVKNYVDWIM | 1 | Homo sapiens | Y671 | TRVKNYVDWIR | 1 | Bos taurus |
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