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Gene: PMEL |
Gene summary for PMEL |
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Gene information | Species | Human | Gene symbol | PMEL | Gene ID | 6490 |
Gene name | premelanosome protein | |
Gene Alias | D12S53E | |
Cytomap | 12q13.2 | |
Gene Type | protein-coding | GO ID | GO:0006582 | UniProtAcc | P40967 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6490 | PMEL | P3_S6_AK | Human | Skin | AK | 8.33e-16 | 6.10e-01 | -0.3256 |
6490 | PMEL | P1_cSCC | Human | Skin | cSCC | 1.50e-03 | 2.20e-01 | 0.0292 |
6490 | PMEL | P4_cSCC | Human | Skin | cSCC | 3.57e-09 | 6.32e-01 | -0.00290000000000005 |
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Tissue | Expression Dynamics | Abbreviation |
Skin | ![]() | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma | ||
SCCIS:squamous cell carcinoma in situ |
∗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 |
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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). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:001605010 | Skin | AK | vesicle organization | 45/1910 | 300/18723 | 5.44e-03 | 3.02e-02 | 45 |
GO:001605015 | Skin | cSCC | vesicle organization | 135/4864 | 300/18723 | 5.98e-13 | 3.44e-11 | 135 |
GO:00324382 | Skin | cSCC | melanosome organization | 14/4864 | 28/18723 | 5.47e-03 | 2.73e-02 | 14 |
GO:00487532 | Skin | cSCC | pigment granule organization | 14/4864 | 29/18723 | 8.08e-03 | 3.74e-02 | 14 |
GO:00330594 | Skin | cSCC | cellular pigmentation | 22/4864 | 53/18723 | 9.80e-03 | 4.33e-02 | 22 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
PMEL | SNV | Missense_Mutation | c.101G>C | p.Gly34Ala | p.G34A | P40967 | protein_coding | tolerated(0.17) | benign(0.06) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PMEL | SNV | Missense_Mutation | novel | c.1212N>T | p.Glu404Asp | p.E404D | P40967 | protein_coding | tolerated(0.22) | possibly_damaging(0.576) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
PMEL | SNV | Missense_Mutation | novel | c.1327T>C | p.Ser443Pro | p.S443P | P40967 | protein_coding | tolerated(1) | benign(0.001) | TCGA-B5-A0JU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PMEL | SNV | Missense_Mutation | novel | c.1774C>T | p.Leu592Phe | p.L592F | P40967 | protein_coding | tolerated(0.33) | possibly_damaging(0.667) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
PMEL | SNV | Missense_Mutation | novel | c.997N>A | p.Val333Met | p.V333M | P40967 | protein_coding | tolerated(0.37) | benign(0.011) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PMEL | SNV | Missense_Mutation | novel | c.8N>G | p.Leu3Arg | p.L3R | P40967 | protein_coding | deleterious_low_confidence(0.01) | benign(0.394) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
PMEL | SNV | Missense_Mutation | c.1358N>A | p.Ser453Tyr | p.S453Y | P40967 | protein_coding | deleterious(0.01) | probably_damaging(0.921) | TCGA-BS-A0UJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PMEL | SNV | Missense_Mutation | c.435G>T | p.Gln145His | p.Q145H | P40967 | protein_coding | tolerated(0.06) | possibly_damaging(0.8) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
PMEL | SNV | Missense_Mutation | rs866948103 | c.1946N>A | p.Arg649His | p.R649H | P40967 | protein_coding | tolerated(0.09) | benign(0.003) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PMEL | SNV | Missense_Mutation | c.50N>A | p.Ala17Asp | p.A17D | P40967 | protein_coding | deleterious(0.02) | possibly_damaging(0.718) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
6490 | PMEL | DRUGGABLE GENOME | Multi-epitope tyrosinase/gp100 vaccine | |||
6490 | PMEL | DRUGGABLE GENOME | Melanoma vaccine | |||
6490 | PMEL | DRUGGABLE GENOME | HMBA | 11310793 | ||
6490 | PMEL | DRUGGABLE GENOME | GPA-TriMAR-T cells | |||
6490 | PMEL | DRUGGABLE GENOME | Multi-epitope peptide melanoma vaccine | 22495394 | ||
6490 | PMEL | DRUGGABLE GENOME | AE-08 | |||
6490 | PMEL | DRUGGABLE GENOME | IMCgp100 | TEBENTAFUSP | 23263452 | |
6490 | PMEL | DRUGGABLE GENOME | Gp100:209-217(210M) peptide vaccine | |||
6490 | PMEL | DRUGGABLE GENOME | IFN | 15980237 |
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