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Gene: NUCB1 |
Gene summary for NUCB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | NUCB1 | Gene ID | 4924 |
| Gene name | nucleobindin 1 | |
| Gene Alias | CALNUC | |
| Cytomap | 19q13.33 | |
| Gene Type | protein-coding | GO ID | GO:0006605 | UniProtAcc | A8K7Q1 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 4924 | NUCB1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 4.30e-08 | 2.54e-01 | 0.0155 |
| 4924 | NUCB1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.00e-02 | 2.77e-01 | -0.1808 |
| 4924 | NUCB1 | HTA11_1938_2000001011 | Human | Colorectum | AD | 3.47e-10 | 5.31e-01 | -0.0811 |
| 4924 | NUCB1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.43e-10 | 4.05e-01 | -0.1954 |
| 4924 | NUCB1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.78e-08 | 1.09e+00 | -0.2602 |
| 4924 | NUCB1 | HTA11_3361_2000001011 | Human | Colorectum | AD | 2.74e-02 | 4.45e-01 | -0.1207 |
| 4924 | NUCB1 | HTA11_83_2000001011 | Human | Colorectum | SER | 5.07e-03 | 4.33e-01 | -0.1526 |
| 4924 | NUCB1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.62e-18 | 5.14e-01 | -0.1464 |
| 4924 | NUCB1 | HTA11_866_2000001011 | Human | Colorectum | AD | 7.20e-14 | 3.46e-01 | -0.1001 |
| 4924 | NUCB1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 5.94e-21 | 7.11e-01 | -0.059 |
| 4924 | NUCB1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 5.05e-04 | 6.06e-01 | -0.1462 |
| 4924 | NUCB1 | HTA11_546_2000001011 | Human | Colorectum | AD | 1.89e-03 | 3.58e-01 | -0.0842 |
| 4924 | NUCB1 | HTA11_866_3004761011 | Human | Colorectum | AD | 7.20e-04 | 2.20e-01 | 0.096 |
| 4924 | NUCB1 | HTA11_9408_2000001011 | Human | Colorectum | AD | 3.63e-03 | 5.84e-01 | 0.0451 |
| 4924 | NUCB1 | HTA11_6801_2000001011 | Human | Colorectum | SER | 5.35e-03 | 5.59e-01 | 0.0171 |
| 4924 | NUCB1 | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.25e-06 | 4.86e-01 | 0.0338 |
| 4924 | NUCB1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.47e-16 | 3.99e-01 | 0.0674 |
| 4924 | NUCB1 | HTA11_6818_2000001011 | Human | Colorectum | AD | 4.83e-03 | 4.24e-01 | 0.0112 |
| 4924 | NUCB1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 7.35e-07 | 2.55e-01 | 0.294 |
| 4924 | NUCB1 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 2.88e-02 | 5.22e-01 | 0.3487 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0006605 | Colorectum | AD | protein targeting | 105/3918 | 314/18723 | 1.39e-07 | 6.44e-06 | 105 |
| GO:0032386 | Colorectum | AD | regulation of intracellular transport | 109/3918 | 337/18723 | 5.33e-07 | 1.95e-05 | 109 |
| GO:0033157 | Colorectum | AD | regulation of intracellular protein transport | 80/3918 | 229/18723 | 5.81e-07 | 2.09e-05 | 80 |
| GO:1903533 | Colorectum | AD | regulation of protein targeting | 31/3918 | 81/18723 | 2.61e-04 | 3.25e-03 | 31 |
| GO:00331571 | Colorectum | SER | regulation of intracellular protein transport | 68/2897 | 229/18723 | 3.41e-08 | 2.30e-06 | 68 |
| GO:00323861 | Colorectum | SER | regulation of intracellular transport | 89/2897 | 337/18723 | 1.34e-07 | 7.96e-06 | 89 |
| GO:00066051 | Colorectum | SER | protein targeting | 76/2897 | 314/18723 | 3.19e-05 | 8.47e-04 | 76 |
| GO:19035331 | Colorectum | SER | regulation of protein targeting | 24/2897 | 81/18723 | 9.20e-04 | 1.11e-02 | 24 |
| GO:00066052 | Colorectum | MSS | protein targeting | 97/3467 | 314/18723 | 6.76e-08 | 3.46e-06 | 97 |
| GO:00331572 | Colorectum | MSS | regulation of intracellular protein transport | 76/3467 | 229/18723 | 7.03e-08 | 3.56e-06 | 76 |
| GO:00323862 | Colorectum | MSS | regulation of intracellular transport | 102/3467 | 337/18723 | 9.73e-08 | 4.71e-06 | 102 |
| GO:19035332 | Colorectum | MSS | regulation of protein targeting | 28/3467 | 81/18723 | 4.34e-04 | 5.23e-03 | 28 |
| GO:00066053 | Colorectum | MSI-H | protein targeting | 44/1319 | 314/18723 | 9.50e-06 | 4.55e-04 | 44 |
| GO:00323863 | Colorectum | MSI-H | regulation of intracellular transport | 46/1319 | 337/18723 | 1.20e-05 | 5.48e-04 | 46 |
| GO:00331573 | Colorectum | MSI-H | regulation of intracellular protein transport | 33/1319 | 229/18723 | 6.86e-05 | 2.29e-03 | 33 |
| GO:00323865 | Colorectum | CRC | regulation of intracellular transport | 61/2078 | 337/18723 | 7.94e-05 | 1.65e-03 | 61 |
| GO:00331575 | Colorectum | CRC | regulation of intracellular protein transport | 45/2078 | 229/18723 | 9.62e-05 | 1.95e-03 | 45 |
| GO:00066055 | Colorectum | CRC | protein targeting | 54/2078 | 314/18723 | 7.17e-04 | 9.28e-03 | 54 |
| GO:000660525 | Esophagus | HGIN | protein targeting | 78/2587 | 314/18723 | 1.08e-07 | 5.47e-06 | 78 |
| GO:003238617 | Esophagus | HGIN | regulation of intracellular transport | 79/2587 | 337/18723 | 1.11e-06 | 4.36e-05 | 79 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| NUCB1 | SNV | Missense_Mutation | c.822N>C | p.Glu274Asp | p.E274D | Q02818 | protein_coding | tolerated(0.21) | probably_damaging(0.936) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| NUCB1 | SNV | Missense_Mutation | c.1249N>C | p.Glu417Gln | p.E417Q | Q02818 | protein_coding | tolerated(0.27) | benign(0) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| NUCB1 | insertion | Frame_Shift_Ins | novel | c.879_880insGAAATTAACCACTGGATTTGCAAGATGAGGGTTC | p.Leu294GlufsTer69 | p.L294Efs*69 | Q02818 | protein_coding | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| NUCB1 | SNV | Missense_Mutation | c.1078N>C | p.Glu360Gln | p.E360Q | Q02818 | protein_coding | deleterious(0.04) | possibly_damaging(0.844) | TCGA-C5-A1ME-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| NUCB1 | SNV | Missense_Mutation | c.1314N>C | p.Gln438His | p.Q438H | Q02818 | protein_coding | deleterious(0.03) | benign(0.005) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| NUCB1 | SNV | Missense_Mutation | rs749759537 | c.64N>T | p.Arg22Cys | p.R22C | Q02818 | protein_coding | tolerated(0.15) | benign(0.129) | TCGA-EX-A69L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| NUCB1 | SNV | Missense_Mutation | novel | c.421C>A | p.Leu141Met | p.L141M | Q02818 | protein_coding | deleterious(0.01) | probably_damaging(0.921) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| NUCB1 | SNV | Missense_Mutation | novel | c.937N>G | p.Thr313Ala | p.T313A | Q02818 | protein_coding | deleterious(0.01) | possibly_damaging(0.715) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | SD |
| NUCB1 | SNV | Missense_Mutation | rs375589971 | c.457G>A | p.Asp153Asn | p.D153N | Q02818 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A3OK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
| NUCB1 | SNV | Missense_Mutation | novel | c.986C>T | p.Thr329Ile | p.T329I | Q02818 | protein_coding | deleterious(0.04) | benign(0.007) | TCGA-AP-A1DP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | PD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 4924 | NUCB1 | DRUGGABLE GENOME | antagonist | 252166902 | ||
| 4924 | NUCB1 | DRUGGABLE GENOME | GS-5734 | REMDESIVIR | ||
| 4924 | NUCB1 | DRUGGABLE GENOME | antagonist | 252166718 |
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