|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for CUBN |
 Gene summary |
| Basic gene Info. | Gene symbol | CUBN |
| Gene name | cubilin (intrinsic factor-cobalamin receptor) | |
| Synonyms | IFCR|MGA1|gp280 | |
| Cytomap | UCSC genome browser: 10p12.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001081.3, | |
| Description | 460 kDa receptorcubilincubilin precursor variant 1cubilin precursor variant 2intestinal intrinsic factor receptorintrinsic factor-vitamin B12 receptor | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602997 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000107611 | ||
| HPRD : 04296 | ||
| Vega : OTTHUMG00000017741 | ||
| Protein | UniProt: O60494 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CUBN | |
| BioGPS: 8029 | ||
| Pathway | NCI Pathway Interaction Database: CUBN | |
| KEGG: CUBN | ||
| REACTOME: CUBN | ||
| Pathway Commons: CUBN | ||
| Context | iHOP: CUBN | |
| ligand binding site mutation search in PubMed: CUBN | ||
| UCL Cancer Institute: CUBN | ||
| 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 |
| Top |
| Ligand binding site mutations for CUBN |
| 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. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L1030 | L1030H | BLCA | 1 | D1146 | K1144R | LUAD | 1 | D1149 | D1149G | LUAD | 1 | D1221 | Y1222C | LUSC | 1 | V1375 | R1377L | STAD | 1 | D1149 | D1149Y | 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. |
| Top |
| Protein structure related information for CUBN |
| 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 | D1221 | Y1222C | -1.2381057 | L1030 | L1030H | -1.1883998 | D1146 | K1144R | -0.55234717 | D1149 | D1149G | -0.47961446 | V1375 | R1377L | -0.23920147 | D1149 | D1149Y | -0.063019116 |
| (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 CUBN from PDB |
| Top |
| Differential gene expression and gene-gene network for CUBN |
| 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 CUBN |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1306856 | Imerslund-Grasbeck syndrome | 9 | Biomarker, GeneticVariation |
| umls:C0236733 | Amphetamine-Related Disorders | 1 | Biomarker |
| umls:C0025202 | Melanoma | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for CUBN |
| 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. |
 |
| Gene-centered drug-gene interaction network |
 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00200 | Hydroxocobalamin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of CUBN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 3kq4 | B | D1146 D1149 | CA | CALCIUM(2+) | 3kq4 | D | D1146 D1149 | CA | CALCIUM(2+) | 3kq4 | F | D1146 D1149 | CA | CALCIUM(2+) | 3kq4 | B | D1221 | CA | CALCIUM(2+) | 3kq4 | D | D1221 | CA | CALCIUM(2+) | 3kq4 | F | D1221 | CA | CALCIUM(2+) | 3kq4 | B | L1030 | CA | CALCIUM(2+) | 3kq4 | D | L1030 | CA | CALCIUM(2+) | 3kq4 | F | L1030 | CA | CALCIUM(2+) | 3kq4 | B | V1375 | CA | CALCIUM(2+) | 3kq4 | D | V1375 | CA | CALCIUM(2+) | 3kq4 | F | V1375 |
| Top |
| Conservation information for LBS of CUBN |
| Multiple alignments for O60494 in multiple species |
| LBS | AA sequence | # species | Species | D1027 | LIFVSDSALAH | 2 | Mus musculus, Rattus norvegicus | D1027 | LVFVTDSDLAY | 1 | Homo sapiens | D1027 | VVFVSDRSVAG | 1 | Caenorhabditis elegans | D1027 | LIFVADSDLAY | 1 | Canis lupus familiaris | D1029 | FVSDSALAHEG | 2 | Mus musculus, Rattus norvegicus | D1029 | FVTDSDLAYEG | 1 | Homo sapiens | D1029 | FVSDRSVAGPG | 1 | Caenorhabditis elegans | D1029 | FVADSDLAYEG | 1 | Canis lupus familiaris | D1105 | NYYT-DFLEIR | 1 | Homo sapiens | D1105 | --CDKSSLMFR | 1 | Caenorhabditis elegans | D1105 | PKCV-DFVEIR | 1 | Mus musculus | D1105 | SQCV-DFVEIR | 1 | Rattus norvegicus | D1105 | GQCVADFVEIR | 1 | Canis lupus familiaris | D1146 | LKFKSDQIDTR | 1 | Homo sapiens | D1146 | IVYKS---INS | 1 | Caenorhabditis elegans | D1146 | LRFKSDTALTA | 1 | Mus musculus | D1146 | LKFKSDAALTA | 1 | Rattus norvegicus | D1146 | LQFTSDFLGSG | 1 | Canis lupus familiaris | D1149 | KSDQIDTRSG- | 1 | Homo sapiens | D1149 | KS---INSEGS | 1 | Caenorhabditis elegans | D1149 | KSDTALTARG- | 1 | Mus musculus | D1149 | KSDAALTAKG- | 1 | Rattus norvegicus | D1149 | TSDFLGSGPG- | 1 | Canis lupus familiaris | D1221 | TL---DYLAVY | 2 | Homo sapiens, Canis lupus familiaris | D1221 | SL---DYLAVF | 2 | Mus musculus, Rattus norvegicus | D1221 | PLFAANRIDFF | 1 | Caenorhabditis elegans | D1262 | LKLRTDAGQQG | 2 | Mus musculus, Rattus norvegicus | D1262 | IKLRTDEGQQG | 1 | Homo sapiens | D1262 | IKYVQSGGFQS | 1 | Caenorhabditis elegans | D1262 | LKFRTDEDQQG | 1 | Canis lupus familiaris | D1336 | INCSTDYLEL- | 2 | Homo sapiens, Canis lupus familiaris | D1336 | INCITDMLKVD | 1 | Caenorhabditis elegans | D1336 | VNCSTDYLEL- | 1 | Mus musculus | D1336 | MNCSTDYVEL- | 1 | Rattus norvegicus | D1373 | VLLLTDGVGRR | 1 | Homo sapiens | D1373 | LTYSSQGDPTN | 1 | Caenorhabditis elegans | D1373 | VVFHTDGVDSG | 1 | Mus musculus | D1373 | VLFHTDGINSG | 1 | Rattus norvegicus | D1373 | VLFYTDGVGHQ | 1 | Canis lupus familiaris | D988 | YNCTNDYLEVY | 2 | Homo sapiens, Canis lupus familiaris | D988 | KSCEYDRVEIY | 1 | Caenorhabditis elegans | D988 | YNCANDYLEVY | 1 | Mus musculus | D988 | YNCTNDYLEIY | 1 | Rattus norvegicus | E1096 | TNFSLEEAIGN | 1 | Homo sapiens | E1096 | NNMSLP----- | 1 | Caenorhabditis elegans | E1096 | TDFALEDYFGP | 1 | Mus musculus | E1096 | TDFTLEDYFGS | 1 | Rattus norvegicus | E1096 | TNFALEEAIGG | 1 | Canis lupus familiaris | E1213 | KDFHLEHHPN- | 1 | Homo sapiens | E1213 | TALDDLNSSDS | 1 | Caenorhabditis elegans | E1213 | QDFHLEHHPN- | 1 | Mus musculus | E1213 | QDFHLEHHPS- | 1 | Rattus norvegicus | E1213 | EDFHLEHHPN- | 1 | Canis lupus familiaris | E1263 | KLRTDAGQQGR | 2 | Mus musculus, Rattus norvegicus | E1263 | KLRTDEGQQGR | 1 | Homo sapiens | E1263 | KYVQSGGFQSK | 1 | Caenorhabditis elegans | E1263 | KFRTDEDQQGG | 1 | Canis lupus familiaris | E1328 | -----EHHINC | 1 | Homo sapiens | E1328 | QKSYFEGGINC | 1 | Caenorhabditis elegans | E1328 | -----ENYVNC | 1 | Mus musculus | E1328 | -----ESYMNC | 1 | Rattus norvegicus | E1328 | -----ENHINC | 1 | Canis lupus familiaris | E980 | SSFYLEFH--Y | 2 | Mus musculus, Rattus norvegicus | E980 | ETFHLEFH--Y | 1 | Homo sapiens | E980 | DVFDLEVTPAK | 1 | Caenorhabditis elegans | E980 | RKFHLEFH--Y | 1 | Canis lupus familiaris | G1264 | LRTDAGQQGR- | 2 | Mus musculus, Rattus norvegicus | G1264 | LRTDEGQQGR- | 1 | Homo sapiens | G1264 | YVQSGGFQSKK | 1 | Caenorhabditis elegans | G1264 | FRTDEDQQGG- | 1 | Canis lupus familiaris | I1148 | FKSDQIDTRSG | 1 | Homo sapiens | I1148 | YKS---INSEG | 1 | Caenorhabditis elegans | I1148 | FKSDTALTARG | 1 | Mus musculus | I1148 | FKSDAALTAKG | 1 | Rattus norvegicus | I1148 | FTSDFLGSGPG | 1 | Canis lupus familiaris | L1030 | VSDSALAHEGF | 2 | Mus musculus, Rattus norvegicus | L1030 | VTDSDLAYEGF | 1 | Homo sapiens | L1030 | VSDRSVAGPGW | 1 | Caenorhabditis elegans | L1030 | VADSDLAYEGF | 1 | Canis lupus familiaris | Q1265 | RTDAGQQGR-- | 2 | Mus musculus, Rattus norvegicus | Q1265 | RTDEGQQGR-- | 1 | Homo sapiens | Q1265 | VQSGGFQSKKI | 1 | Caenorhabditis elegans | Q1265 | RTDEDQQGG-- | 1 | Canis lupus familiaris | Q1266 | TDAGQQGR--- | 2 | Mus musculus, Rattus norvegicus | Q1266 | TDEGQQGR--- | 1 | Homo sapiens | Q1266 | QSGGFQSKKIF | 1 | Caenorhabditis elegans | Q1266 | TDEDQQGG--- | 1 | Canis lupus familiaris | T1372 | QVLLLTDGVGR | 1 | Homo sapiens | T1372 | KLTYSSQGDPT | 1 | Caenorhabditis elegans | T1372 | IVVFHTDGVDS | 1 | Mus musculus | T1372 | HVLFHTDGINS | 1 | Rattus norvegicus | T1372 | QVLFYTDGVGH | 1 | Canis lupus familiaris | V1375 | LLTDGVGRREK | 1 | Homo sapiens | V1375 | YSSQGDPTNQ- | 1 | Caenorhabditis elegans | V1375 | FHTDGVDSGEK | 1 | Mus musculus | V1375 | FHTDGINSGEK | 1 | Rattus norvegicus | V1375 | FYTDGVGHQEK | 1 | Canis lupus familiaris | Y1300 | GYPNPYSENQH | 1 | Homo sapiens | Y1300 | GYPYKVYSNQF | 1 | Caenorhabditis elegans | Y1300 | NYPNPYDKDQR | 1 | Mus musculus | Y1300 | NYPNPYDKNQR | 1 | Rattus norvegicus | Y1300 | HYPNPYSDNQR | 1 | Canis lupus familiaris |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |