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Gene: SNRPD1 |
Gene summary for SNRPD1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | SNRPD1 | Gene ID | 6632 |
| Gene name | small nuclear ribonucleoprotein D1 polypeptide | |
| Gene Alias | HsT2456 | |
| Cytomap | 18q11.2 | |
| Gene Type | protein-coding | GO ID | GO:0000245 | UniProtAcc | P62314 |
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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 |
| 6632 | SNRPD1 | GSM4909281 | Human | Breast | IDC | 7.24e-48 | 7.74e-01 | 0.21 |
| 6632 | SNRPD1 | GSM4909282 | Human | Breast | IDC | 6.64e-56 | 8.05e-01 | -0.0288 |
| 6632 | SNRPD1 | GSM4909285 | Human | Breast | IDC | 1.60e-38 | 7.11e-01 | 0.21 |
| 6632 | SNRPD1 | GSM4909286 | Human | Breast | IDC | 7.65e-14 | 4.38e-01 | 0.1081 |
| 6632 | SNRPD1 | GSM4909287 | Human | Breast | IDC | 6.27e-10 | 4.15e-01 | 0.2057 |
| 6632 | SNRPD1 | GSM4909288 | Human | Breast | IDC | 5.28e-05 | 3.48e-01 | 0.0988 |
| 6632 | SNRPD1 | GSM4909291 | Human | Breast | IDC | 4.09e-02 | 2.92e-01 | 0.1753 |
| 6632 | SNRPD1 | GSM4909293 | Human | Breast | IDC | 9.78e-09 | 3.14e-01 | 0.1581 |
| 6632 | SNRPD1 | GSM4909294 | Human | Breast | IDC | 2.64e-09 | 2.22e-01 | 0.2022 |
| 6632 | SNRPD1 | GSM4909296 | Human | Breast | IDC | 1.84e-14 | 1.20e-01 | 0.1524 |
| 6632 | SNRPD1 | GSM4909297 | Human | Breast | IDC | 2.92e-17 | -6.83e-02 | 0.1517 |
| 6632 | SNRPD1 | GSM4909311 | Human | Breast | IDC | 3.32e-39 | -3.28e-02 | 0.1534 |
| 6632 | SNRPD1 | GSM4909312 | Human | Breast | IDC | 1.99e-17 | 7.16e-02 | 0.1552 |
| 6632 | SNRPD1 | GSM4909315 | Human | Breast | IDC | 1.59e-08 | 3.51e-01 | 0.21 |
| 6632 | SNRPD1 | GSM4909316 | Human | Breast | IDC | 1.25e-08 | 4.25e-01 | 0.21 |
| 6632 | SNRPD1 | GSM4909318 | Human | Breast | IDC | 7.97e-07 | 4.97e-01 | 0.2031 |
| 6632 | SNRPD1 | GSM4909319 | Human | Breast | IDC | 1.18e-39 | -2.19e-01 | 0.1563 |
| 6632 | SNRPD1 | GSM4909320 | Human | Breast | IDC | 5.61e-15 | 4.41e-01 | 0.1575 |
| 6632 | SNRPD1 | GSM4909321 | Human | Breast | IDC | 1.37e-19 | 8.26e-02 | 0.1559 |
| 6632 | SNRPD1 | brca1 | Human | Breast | Precancer | 8.02e-17 | 4.76e-01 | -0.0338 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia | ||
| 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:000039815 | Endometrium | AEH | mRNA splicing, via spliceosome | 87/2100 | 320/18723 | 1.51e-15 | 4.78e-13 | 87 |
| GO:002261316 | Endometrium | AEH | ribonucleoprotein complex biogenesis | 107/2100 | 463/18723 | 1.43e-13 | 4.08e-11 | 107 |
| GO:007182616 | Endometrium | AEH | ribonucleoprotein complex subunit organization | 65/2100 | 227/18723 | 4.47e-13 | 1.07e-10 | 65 |
| GO:002261816 | Endometrium | AEH | ribonucleoprotein complex assembly | 63/2100 | 220/18723 | 1.02e-12 | 2.24e-10 | 63 |
| GO:000838017 | Endometrium | EEC | RNA splicing | 111/2168 | 434/18723 | 2.45e-16 | 1.13e-13 | 111 |
| GO:000037516 | Endometrium | EEC | RNA splicing, via transesterification reactions | 88/2168 | 324/18723 | 7.46e-15 | 2.63e-12 | 88 |
| GO:000037716 | Endometrium | EEC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 87/2168 | 320/18723 | 9.97e-15 | 3.15e-12 | 87 |
| GO:000039816 | Endometrium | EEC | mRNA splicing, via spliceosome | 87/2168 | 320/18723 | 9.97e-15 | 3.15e-12 | 87 |
| GO:002261317 | Endometrium | EEC | ribonucleoprotein complex biogenesis | 108/2168 | 463/18723 | 4.60e-13 | 9.86e-11 | 108 |
| GO:007182617 | Endometrium | EEC | ribonucleoprotein complex subunit organization | 65/2168 | 227/18723 | 1.91e-12 | 3.58e-10 | 65 |
| GO:002261817 | Endometrium | EEC | ribonucleoprotein complex assembly | 63/2168 | 220/18723 | 4.16e-12 | 7.56e-10 | 63 |
| GO:000838026 | Esophagus | HGIN | RNA splicing | 160/2587 | 434/18723 | 3.74e-34 | 1.12e-30 | 160 |
| GO:002261327 | Esophagus | HGIN | ribonucleoprotein complex biogenesis | 158/2587 | 463/18723 | 2.61e-29 | 5.23e-26 | 158 |
| GO:000037520 | Esophagus | HGIN | RNA splicing, via transesterification reactions | 115/2587 | 324/18723 | 3.16e-23 | 3.80e-20 | 115 |
| GO:000037720 | Esophagus | HGIN | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
| GO:000039820 | Esophagus | HGIN | mRNA splicing, via spliceosome | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
| GO:007182627 | Esophagus | HGIN | ribonucleoprotein complex subunit organization | 84/2587 | 227/18723 | 1.34e-18 | 5.37e-16 | 84 |
| GO:002261827 | Esophagus | HGIN | ribonucleoprotein complex assembly | 82/2587 | 220/18723 | 2.07e-18 | 7.36e-16 | 82 |
| GO:00002457 | Esophagus | HGIN | spliceosomal complex assembly | 25/2587 | 79/18723 | 3.74e-05 | 9.30e-04 | 25 |
| GO:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
| Page: 1 2 3 4 5 6 7 8 9 10 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa030408 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
| hsa0304013 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
| hsa0304023 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
| hsa0304033 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
| hsa0304043 | Breast | DCIS | Spliceosome | 40/846 | 217/8465 | 8.97e-05 | 8.52e-04 | 6.28e-04 | 40 |
| hsa0304053 | Breast | DCIS | Spliceosome | 40/846 | 217/8465 | 8.97e-05 | 8.52e-04 | 6.28e-04 | 40 |
| hsa03040 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
| hsa030401 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
| hsa030402 | Colorectum | MSS | Spliceosome | 66/1875 | 217/8465 | 2.58e-03 | 1.27e-02 | 7.81e-03 | 66 |
| hsa030403 | Colorectum | MSS | Spliceosome | 66/1875 | 217/8465 | 2.58e-03 | 1.27e-02 | 7.81e-03 | 66 |
| hsa030404 | Colorectum | MSI-H | Spliceosome | 37/797 | 217/8465 | 2.49e-04 | 3.23e-03 | 2.70e-03 | 37 |
| hsa030405 | Colorectum | MSI-H | Spliceosome | 37/797 | 217/8465 | 2.49e-04 | 3.23e-03 | 2.70e-03 | 37 |
| hsa030409 | Endometrium | AEH | Spliceosome | 54/1197 | 217/8465 | 1.47e-05 | 1.65e-04 | 1.21e-04 | 54 |
| hsa0304014 | Endometrium | AEH | Spliceosome | 54/1197 | 217/8465 | 1.47e-05 | 1.65e-04 | 1.21e-04 | 54 |
| hsa0304024 | Endometrium | EEC | Spliceosome | 54/1237 | 217/8465 | 3.78e-05 | 3.88e-04 | 2.89e-04 | 54 |
| hsa0304034 | Endometrium | EEC | Spliceosome | 54/1237 | 217/8465 | 3.78e-05 | 3.88e-04 | 2.89e-04 | 54 |
| hsa0304018 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304019 | Esophagus | HGIN | Spliceosome | 79/1383 | 217/8465 | 3.22e-13 | 7.00e-12 | 5.56e-12 | 79 |
| hsa0304027 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
| hsa0304037 | Esophagus | ESCC | Spliceosome | 128/4205 | 217/8465 | 3.31e-03 | 8.79e-03 | 4.50e-03 | 128 |
| Page: 1 2 |
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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 |
| Page: 1 |
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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. |
| Page: 1 |
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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 |
| SNRPD1 | SNV | Missense_Mutation | c.182N>A | p.Arg61Gln | p.R61Q | P62314 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| SNRPD1 | SNV | Missense_Mutation | rs572142783 | c.196N>T | p.Arg66Trp | p.R66W | P62314 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| SNRPD1 | SNV | Missense_Mutation | novel | c.154N>T | p.Pro52Ser | p.P52S | P62314 | protein_coding | deleterious(0.03) | benign(0.3) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| SNRPD1 | SNV | Missense_Mutation | novel | c.39A>T | p.Glu13Asp | p.E13D | P62314 | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-B5-A1MR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
| SNRPD1 | SNV | Missense_Mutation | novel | c.155N>A | p.Pro52His | p.P52H | P62314 | protein_coding | deleterious(0.04) | probably_damaging(0.957) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
| SNRPD1 | SNV | Missense_Mutation | novel | c.184N>A | p.Gly62Arg | p.G62R | P62314 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| SNRPD1 | SNV | Missense_Mutation | c.322N>T | p.Arg108Cys | p.R108C | P62314 | protein_coding | tolerated(0.06) | probably_damaging(0.973) | TCGA-78-7156-01 | Lung | lung adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
| SNRPD1 | SNV | Missense_Mutation | c.226N>G | p.Leu76Val | p.L76V | P62314 | protein_coding | deleterious(0.01) | possibly_damaging(0.78) | TCGA-56-5897-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| SNRPD1 | SNV | Missense_Mutation | c.328N>T | p.Arg110Cys | p.R110C | P62314 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-CG-4305-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Chemotherapy | cisplatin | CR |
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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 |
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