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Gene: SGCA |
Gene summary for SGCA |
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Gene information | Species | Human | Gene symbol | SGCA | Gene ID | 6442 |
Gene name | sarcoglycan alpha | |
Gene Alias | 50DAG | |
Cytomap | 17q21.33 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | A0A0S2Z4Q1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
6442 | SGCA | C43 | Human | Oral cavity | OSCC | 7.87e-03 | -1.35e-01 | 0.1704 |
6442 | SGCA | C06 | Human | Oral cavity | OSCC | 3.18e-02 | 7.63e-01 | 0.2699 |
6442 | SGCA | C07 | Human | Oral cavity | OSCC | 2.75e-03 | 1.54e+00 | 0.2491 |
6442 | SGCA | C08 | Human | Oral cavity | OSCC | 1.66e-02 | -1.35e-01 | 0.1919 |
6442 | SGCA | LP16 | Human | Oral cavity | LP | 9.58e-05 | 1.32e+00 | 0.1055 |
6442 | SGCA | SYSMH2 | Human | Oral cavity | OSCC | 6.69e-03 | -1.27e-01 | 0.2326 |
6442 | SGCA | SYSMH4 | Human | Oral cavity | OSCC | 1.66e-02 | -1.35e-01 | 0.1226 |
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Tissue | Expression Dynamics | Abbreviation |
Oral Cavity | ![]() | EOLP: Erosive Oral lichen planus |
LP: leukoplakia | ||
NEOLP: Non-erosive oral lichen planus | ||
OSCC: Oral squamous cell carcinoma |
∗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:00310999 | Oral cavity | OSCC | regeneration | 114/7305 | 198/18723 | 8.54e-08 | 1.50e-06 | 114 |
GO:00422464 | Oral cavity | OSCC | tissue regeneration | 42/7305 | 72/18723 | 6.89e-04 | 3.84e-03 | 42 |
GO:00434034 | Oral cavity | OSCC | skeletal muscle tissue regeneration | 23/7305 | 37/18723 | 3.66e-03 | 1.51e-02 | 23 |
GO:003109916 | Oral cavity | LP | regeneration | 76/4623 | 198/18723 | 1.25e-05 | 2.24e-04 | 76 |
GO:00422461 | Oral cavity | LP | tissue regeneration | 30/4623 | 72/18723 | 1.13e-03 | 9.27e-03 | 30 |
GO:004340311 | Oral cavity | LP | skeletal muscle tissue regeneration | 18/4623 | 37/18723 | 1.36e-03 | 1.08e-02 | 18 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05416210 | Oral cavity | LP | Viral myocarditis | 32/2418 | 60/8465 | 4.55e-05 | 2.91e-04 | 1.88e-04 | 32 |
hsa0541637 | Oral cavity | LP | Viral myocarditis | 32/2418 | 60/8465 | 4.55e-05 | 2.91e-04 | 1.88e-04 | 32 |
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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 |
SGCA | SNV | Missense_Mutation | rs200945974 | c.575N>A | p.Arg192Gln | p.R192Q | Q16586 | protein_coding | tolerated(0.14) | benign(0.017) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SGCA | SNV | Missense_Mutation | c.901N>A | p.Ala301Thr | p.A301T | Q16586 | protein_coding | deleterious(0) | probably_damaging(0.986) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SGCA | SNV | Missense_Mutation | rs375692868 | c.1132G>A | p.Ala378Thr | p.A378T | Q16586 | protein_coding | tolerated(0.55) | probably_damaging(0.999) | TCGA-AP-A1DP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | paclitaxel | PD |
SGCA | SNV | Missense_Mutation | rs781380620 | c.982N>A | p.Asp328Asn | p.D328N | Q16586 | protein_coding | deleterious(0) | benign(0.027) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SGCA | SNV | Missense_Mutation | novel | c.658N>T | p.Ala220Ser | p.A220S | Q16586 | protein_coding | tolerated(0.42) | benign(0.402) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
SGCA | SNV | Missense_Mutation | novel | c.361N>A | p.Val121Met | p.V121M | Q16586 | protein_coding | deleterious(0) | possibly_damaging(0.521) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SGCA | SNV | Missense_Mutation | novel | c.1111N>A | p.Leu371Met | p.L371M | Q16586 | protein_coding | tolerated(0.55) | benign(0.056) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
SGCA | SNV | Missense_Mutation | novel | c.441G>T | p.Glu147Asp | p.E147D | Q16586 | protein_coding | deleterious(0) | possibly_damaging(0.579) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
SGCA | SNV | Missense_Mutation | c.793N>T | p.Gly265Cys | p.G265C | Q16586 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-D1-A16N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD | |
SGCA | SNV | Missense_Mutation | novel | c.26N>A | p.Pro9His | p.P9H | Q16586 | protein_coding | tolerated(0.53) | benign(0.228) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | 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 |
6442 | SGCA | NA | rAAV1.tMCK.human-alpha-sarcoglycan |
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