|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for SORT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SORT1 |
| Gene name | sortilin 1 | |
| Synonyms | Gp95|LDLCQ6|NT3 | |
| Cytomap | UCSC genome browser: 1p13.3|1p21.3-p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001205228.1, NM_002959.5, | |
| Description | 100 kDa NT receptorNTR3glycoprotein 95neurotensin receptor 3sortilin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602458 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134243 | ||
| HPRD : 03910 | ||
| Vega : OTTHUMG00000011999 | ||
| Protein | UniProt: Q99523 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SORT1 | |
| BioGPS: 6272 | ||
| Pathway | NCI Pathway Interaction Database: SORT1 | |
| KEGG: SORT1 | ||
| REACTOME: SORT1 | ||
| Pathway Commons: SORT1 | ||
| Context | iHOP: SORT1 | |
| ligand binding site mutation search in PubMed: SORT1 | ||
| UCL Cancer Institute: SORT1 | ||
| 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:0006895 | Golgi to endosome transport | 11331584 | GO:0006897 | endocytosis | 11331584 | GO:0007218 | neuropeptide signaling pathway | 9756851 | GO:0008333 | endosome to lysosome transport | 11331584 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 14985763 | GO:0016050 | vesicle organization | 15992544 | GO:0032509 | endosome transport via multivesicular body sorting pathway | 11331584 | GO:0038180 | nerve growth factor signaling pathway | 14985763 | GO:0048227 | plasma membrane to endosome transport | 11331584 | GO:0051005 | negative regulation of lipoprotein lipase activity | 10085125 |
| Top |
| Ligand binding site mutations for SORT1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S192 | S192R | COAD | 1 | S352 | S352Y | COAD | 1 | L308 | G309E | SKCM | 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. |
| Top |
| Protein structure related information for SORT1 |
| 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 |
 |
| 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 | L308 | G309E | 0.35937484 | S192 | S192R | -0.25030181 | S352 | S352Y | -0.040193917 |
| (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 SORT1 from PDB |
| Top |
| Differential gene expression and gene-gene network for SORT1 |
| 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) |
| Top |
| Top |
| Phenotype information for SORT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1956346 | Coronary Artery Disease | 9 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for SORT1 |
| 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. |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of SORT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
| Top |
| Conservation information for LBS of SORT1 |
| Multiple alignments for Q99523 in multiple species |
| LBS | AA sequence | # species | Species | A315 | GRFLFASVMAD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A315 | GRFVFASIMTD | 1 | Danio rerio | E187 | VILTAEVSGGS | 2 | Mus musculus, Rattus norvegicus | E187 | VVLTAEVSGGS | 1 | Homo sapiens | E187 | VILTGDLAEG- | 1 | Danio rerio | F165 | LINNTFIRTEF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F165 | LINNTFIQTEF | 1 | Danio rerio | F306 | VKIYSFGLGGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F306 | NRIYSFGLGGR | 1 | Danio rerio | F314 | GGRFLFASVMA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F314 | GGRFVFASIMT | 1 | Danio rerio | F350 | VGQEQFYSILA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F350 | VGHEQFYSILA | 1 | Danio rerio | G190 | TAEVSGGSRGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G190 | TGDLAEG-KVT | 1 | Danio rerio | G191 | AEVSGGSRGGR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G191 | GDLAEG-KVTK | 1 | Danio rerio | G307 | KIYSFGLGGRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G307 | RIYSFGLGGRF | 1 | Danio rerio | G571 | PIYFTGLASEP | 3 | Homo sapiens, Danio rerio, Mus musculus | G571 | PVYFTGLASEP | 1 | Rattus norvegicus | H131 | VLTTFQVPLVI | 2 | Mus musculus, Rattus norvegicus | H131 | VLTTFHVPLVI | 1 | Homo sapiens | H131 | VLTTFQVPLFI | 1 | Danio rerio | I327 | DTTRRIHVSTD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I327 | GSTRMIHVSVD | 1 | Danio rerio | I353 | EQFYSILAAND | 2 | Homo sapiens, Rattus norvegicus | I353 | EQFYSILAANN | 1 | Danio rerio | I353 | EQFYSILAANE | 1 | Mus musculus | K260 | AVCLAKWGPNN | 2 | Mus musculus, Rattus norvegicus | K260 | AVCLAKWGSDN | 1 | Homo sapiens | K260 | SVCLVKWGIDD | 1 | Danio rerio | L114 | SGSVSLSWVGD | 2 | Mus musculus, Rattus norvegicus | L114 | RGSVSLSWVGD | 1 | Homo sapiens | L114 | SGSVSLAWVGD | 1 | Danio rerio | L308 | IYSFGLGGRFL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L308 | IYSFGLGGRFV | 1 | Danio rerio | L572 | IYFTGLASEPG | 3 | Homo sapiens, Danio rerio, Mus musculus | L572 | VYFTGLASEPG | 1 | Rattus norvegicus | N163 | TNLINNTFIRT | 2 | Mus musculus, Rattus norvegicus | N163 | TDLINNTFIRT | 1 | Homo sapiens | N163 | TDLINNTFIQT | 1 | Danio rerio | R193 | VSGGSRGGRVF | 2 | Mus musculus, Rattus norvegicus | R193 | VSGGSRGGRIF | 1 | Homo sapiens | R193 | LAEG-KVTKIF | 1 | Danio rerio | R196 | GSRGGRVFRSS | 2 | Mus musculus, Rattus norvegicus | R196 | GSRGGRIFRSS | 1 | Homo sapiens | R196 | G-KVTKIFRSV | 1 | Danio rerio | R325 | DKDTTRRIHVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R325 | DSGSTRMIHVS | 1 | Danio rerio | S113 | LSGSVSLSWVG | 2 | Mus musculus, Rattus norvegicus | S113 | LRGSVSLSWVG | 1 | Homo sapiens | S113 | LSGSVSLAWVG | 1 | Danio rerio | S115 | GSVSLSWVGDS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S115 | GSVSLAWVGDG | 1 | Danio rerio | S189 | LTAEVSGGSRG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S189 | LTGDLAEG-KV | 1 | Danio rerio | S192 | EVSGGSRGGRV | 2 | Mus musculus, Rattus norvegicus | S192 | EVSGGSRGGRI | 1 | Homo sapiens | S192 | DLAEG-KVTKI | 1 | Danio rerio | S316 | RFLFASVMADK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S316 | RFVFASIMTDS | 1 | Danio rerio | S352 | QEQFYSILAAN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S352 | HEQFYSILAAN | 1 | Danio rerio | V112 | DLSGSVSLSWV | 2 | Mus musculus, Rattus norvegicus | V112 | DLRGSVSLSWV | 1 | Homo sapiens | V112 | DLSGSVSLAWV | 1 | Danio rerio | V188 | ILTAEVSGGSR | 2 | Mus musculus, Rattus norvegicus | V188 | VLTAEVSGGSR | 1 | Homo sapiens | V188 | ILTGDLAEG-K | 1 | Danio rerio | W586 | MNISIWGFTES | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W586 | MNVSLWGYRDT | 1 | Danio rerio | W597 | FLTSQWVSYTI | 1 | Homo sapiens | W597 | ILNQYWVSVTV | 1 | Danio rerio | W597 | FITRQWVSYTV | 1 | Mus musculus | W597 | FLTRQWVSYTI | 1 | Rattus norvegicus | Y304 | IGVKIYSFGLG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y304 | IGNRIYSFGLG | 1 | Danio rerio | Y351 | GQEQFYSILAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y351 | GHEQFYSILAA | 1 | Danio rerio | Y395 | LDRHLYTTTGG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y395 | LERHLYTTTGG | 1 | Danio rerio |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |