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mutLBSgeneDB |
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| Gene summary for SHC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SHC1 |
| Gene name | SHC (Src homology 2 domain containing) transforming protein 1 | |
| Synonyms | SHC|SHCA | |
| Cytomap | UCSC genome browser: 1q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001130040.1, NM_001130041.1,NM_001202859.1,NM_003029.4,NM_183001.4, | |
| Description | SH2 domain protein C1SHC (Src homology 2 domain-containing) transforming protein 1SHC-transforming protein 1SHC-transforming protein 3SHC-transforming protein A | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600560 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000160691 | ||
| HPRD : 02780 | ||
| Vega : OTTHUMG00000037295 | ||
| Protein | UniProt: P29353 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SHC1 | |
| BioGPS: 6464 | ||
| Pathway | NCI Pathway Interaction Database: SHC1 | |
| KEGG: SHC1 | ||
| REACTOME: SHC1 | ||
| Pathway Commons: SHC1 | ||
| Context | iHOP: SHC1 | |
| ligand binding site mutation search in PubMed: SHC1 | ||
| UCL Cancer Institute: SHC1 | ||
| 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 | GO:0000165 | MAPK cascade | 14676841 | GO:0000187 | activation of MAPK activity | 14676841 |
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| Ligand binding site mutations for SHC1 |
| 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 | R495 | S494R | COAD | 1 | R208 | T206P | KIRC | 1 | G265 | G266W | LUAD | 1 | R14 | R14W | LUAD | 1 | H532 | P530S | STAD | 1 | S175 | L173I | 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 SHC1 |
| 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 | R14 | R14W | -1.0695974 | G265 | G266W | -0.80430104 | H532 | P530S | -0.71601321 | S175 | L173I | -0.42110009 | R208 | T206P | -0.40520501 | R495 | S494R | -0.20073127 |
| (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 SHC1 from PDB |
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| Differential gene expression and gene-gene network for SHC1 |
| 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 SHC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1862939 | Amyotrophic lateral sclerosis 1 | 1 | Biomarker |
| umls:C0018800 | Cardiomegaly | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SHC1 |
| 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 SHC1 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 SHC1 |
| Multiple alignments for P29353 in multiple species |
| LBS | AA sequence | # species | Species | A178 | LQSMRALDFNT | 3 | Homo sapiens, Mus musculus, Bos taurus | A263 | QSISFASGGDP | 3 | Homo sapiens, Mus musculus, Bos taurus | A569 | LPIISAGSELC | 3 | Homo sapiens, Mus musculus, Bos taurus | D537 | HLLLVDPEGVV | 3 | Homo sapiens, Mus musculus, Bos taurus | F262 | MQSISFASGGD | 3 | Homo sapiens, Mus musculus, Bos taurus | F308 | TIGQAFELRFK | 3 | Homo sapiens, Mus musculus, Bos taurus | F312 | AFELRFKQYLR | 3 | Homo sapiens, Mus musculus, Bos taurus | F549 | TKDHRFESVSH | 3 | Homo sapiens, Mus musculus, Bos taurus | G265 | ISFASGGDPDT | 3 | Homo sapiens, Mus musculus, Bos taurus | G305 | VISTIGQAFEL | 3 | Homo sapiens, Mus musculus, Bos taurus | H532 | SGQPKHLLLVD | 3 | Homo sapiens, Mus musculus, Bos taurus | I192 | VTREAISLVCE | 3 | Homo sapiens, Mus musculus, Bos taurus | I219 | RPLSSILGRSN | 3 | Homo sapiens, Mus musculus, Bos taurus | I260 | HHMQSISFASG | 3 | Homo sapiens, Mus musculus, Bos taurus | I301 | LAQDVISTIGQ | 3 | Homo sapiens, Mus musculus, Bos taurus | I304 | DVISTIGQAFE | 3 | Homo sapiens, Mus musculus, Bos taurus | I566 | DNHLPIISAGS | 3 | Homo sapiens, Mus musculus, Bos taurus | I567 | NHLPIISAGSE | 3 | Homo sapiens, Mus musculus, Bos taurus | K210 | ATRRRKPCSRP | 3 | Homo sapiens, Mus musculus, Bos taurus | K279 | VAYVAKDPVNQ | 3 | Homo sapiens, Mus musculus, Bos taurus | L13 | PKYNPLRNESL | 2 | Homo sapiens, Mus musculus | L13 | ----------- | 1 | Bos taurus | L179 | QSMRALDFNTR | 3 | Homo sapiens, Mus musculus, Bos taurus | L194 | REAISLVCEAV | 3 | Homo sapiens, Mus musculus, Bos taurus | L216 | PCSRPLSSILG | 3 | Homo sapiens, Mus musculus, Bos taurus | L533 | GQPKHLLLVDP | 3 | Homo sapiens, Mus musculus, Bos taurus | L534 | QPKHLLLVDPE | 3 | Homo sapiens, Mus musculus, Bos taurus | L535 | PKHLLLVDPEG | 3 | Homo sapiens, Mus musculus, Bos taurus | L555 | ESVSHLISYHM | 3 | Homo sapiens, Mus musculus, Bos taurus | M176 | EVLQSMRALDF | 3 | Homo sapiens, Mus musculus, Bos taurus | M257 | IANHHMQSISF | 3 | Homo sapiens, Mus musculus, Bos taurus | N182 | RALDFNTRTQV | 3 | Homo sapiens, Mus musculus, Bos taurus | P215 | KPCSRPLSSIL | 3 | Homo sapiens, Mus musculus, Bos taurus | P268 | ASGGDPDTAEY | 3 | Homo sapiens, Mus musculus, Bos taurus | Q186 | FNTRTQVTREA | 3 | Homo sapiens, Mus musculus, Bos taurus | Q258 | ANHHMQSISFA | 3 | Homo sapiens, Mus musculus, Bos taurus | Q314 | ELRFKQYLRNP | 3 | Homo sapiens, Mus musculus, Bos taurus | R14 | KYNPLRNESLS | 2 | Homo sapiens, Mus musculus | R14 | ----------- | 1 | Bos taurus | R177 | VLQSMRALDFN | 3 | Homo sapiens, Mus musculus, Bos taurus | R184 | LDFNTRTQVTR | 3 | Homo sapiens, Mus musculus, Bos taurus | R189 | RTQVTREAISL | 3 | Homo sapiens, Mus musculus, Bos taurus | R208 | KGATRRRKPCS | 3 | Homo sapiens, Mus musculus, Bos taurus | R209 | GATRRRKPCSR | 3 | Homo sapiens, Mus musculus, Bos taurus | R214 | RKPCSRPLSSI | 3 | Homo sapiens, Mus musculus, Bos taurus | R285 | DPVNQRACHIL | 3 | Homo sapiens, Mus musculus, Bos taurus | R495 | HGKLSRREAEA | 3 | Homo sapiens, Mus musculus, Bos taurus | R511 | GDFLVRESTTT | 3 | Homo sapiens, Mus musculus, Bos taurus | R543 | PEGVVRTKDHR | 3 | Homo sapiens, Mus musculus, Bos taurus | S175 | VEVLQSMRALD | 3 | Homo sapiens, Mus musculus, Bos taurus | S193 | TREAISLVCEA | 3 | Homo sapiens, Mus musculus, Bos taurus | S217 | CSRPLSSILGR | 3 | Homo sapiens, Mus musculus, Bos taurus | S259 | NHHMQSISFAS | 3 | Homo sapiens, Mus musculus, Bos taurus | S261 | HMQSISFASGG | 3 | Homo sapiens, Mus musculus, Bos taurus | S264 | SISFASGGDPD | 3 | Homo sapiens, Mus musculus, Bos taurus | S568 | HLPIISAGSEL | 3 | Homo sapiens, Mus musculus, Bos taurus | T185 | DFNTRTQVTRE | 3 | Homo sapiens, Mus musculus, Bos taurus | T188 | TRTQVTREAIS | 3 | Homo sapiens, Mus musculus, Bos taurus | T270 | GGDPDTAEYVA | 3 | Homo sapiens, Mus musculus, Bos taurus | T544 | EGVVRTKDHRF | 3 | Homo sapiens, Mus musculus, Bos taurus | V542 | DPEGVVRTKDH | 3 | Homo sapiens, Mus musculus, Bos taurus | Y315 | LRFKQYLRNPP | 3 | Homo sapiens, Mus musculus, Bos taurus |
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