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Gene: ITM2A |
Gene summary for ITM2A |
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Gene information | Species | Human | Gene symbol | ITM2A | Gene ID | 9452 |
Gene name | integral membrane protein 2A | |
Gene Alias | BRICD2A | |
Cytomap | Xq21.1 | |
Gene Type | protein-coding | GO ID | GO:0001775 | UniProtAcc | O43736 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9452 | ITM2A | LZE2D | Human | Esophagus | HGIN | 1.58e-03 | 2.29e-01 | 0.0642 |
9452 | ITM2A | LZE6T | Human | Esophagus | ESCC | 1.99e-05 | 5.79e-01 | 0.0845 |
9452 | ITM2A | P10T-E | Human | Esophagus | ESCC | 8.17e-71 | 1.84e+00 | 0.116 |
9452 | ITM2A | P20T-E | Human | Esophagus | ESCC | 3.58e-03 | -1.95e-01 | 0.1124 |
9452 | ITM2A | P26T-E | Human | Esophagus | ESCC | 7.32e-15 | 4.22e-01 | 0.1276 |
9452 | ITM2A | P62T-E | Human | Esophagus | ESCC | 4.17e-03 | -2.47e-01 | 0.1302 |
9452 | ITM2A | P75T-E | Human | Esophagus | ESCC | 1.66e-02 | -2.57e-01 | 0.1125 |
9452 | ITM2A | P76T-E | Human | Esophagus | ESCC | 9.23e-06 | -1.51e-02 | 0.1207 |
9452 | ITM2A | P127T-E | Human | Esophagus | ESCC | 2.89e-02 | -2.42e-01 | 0.0826 |
9452 | ITM2A | C38 | Human | Oral cavity | OSCC | 1.30e-09 | 1.53e+00 | 0.172 |
9452 | ITM2A | LN38 | Human | Oral cavity | OSCC | 4.67e-02 | 1.31e+00 | 0.168 |
9452 | ITM2A | LP17 | Human | Oral cavity | LP | 8.57e-11 | 1.86e+00 | 0.2349 |
9452 | ITM2A | SYSMH1 | Human | Oral cavity | OSCC | 1.77e-03 | -2.08e-01 | 0.1127 |
9452 | ITM2A | SYSMH4 | Human | Oral cavity | OSCC | 2.62e-08 | 3.22e-01 | 0.1226 |
9452 | ITM2A | P3_S6_AK | Human | Skin | AK | 1.33e-05 | -4.04e-01 | -0.3256 |
9452 | ITM2A | P4_S8_cSCC | Human | Skin | cSCC | 2.03e-09 | -1.47e-01 | -0.3095 |
9452 | ITM2A | P5_S10_cSCC | Human | Skin | cSCC | 1.65e-18 | -5.68e-01 | -0.299 |
9452 | ITM2A | cSCC_p10 | Human | Skin | cSCC | 5.87e-18 | -5.55e-01 | -0.2095 |
9452 | ITM2A | cSCC_p11 | Human | Skin | cSCC | 1.13e-09 | -5.05e-01 | -0.2102 |
9452 | ITM2A | cSCC_p3 | Human | Skin | cSCC | 8.98e-04 | -4.22e-01 | -0.2085 |
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∗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:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:00091012 | Esophagus | ESCC | glycoprotein biosynthetic process | 181/8552 | 317/18723 | 2.54e-05 | 2.15e-04 | 181 |
GO:19031317 | Esophagus | ESCC | mononuclear cell differentiation | 226/8552 | 426/18723 | 1.20e-03 | 5.88e-03 | 226 |
GO:00300984 | Esophagus | ESCC | lymphocyte differentiation | 192/8552 | 374/18723 | 1.52e-02 | 4.93e-02 | 192 |
GO:19031316 | Oral cavity | OSCC | mononuclear cell differentiation | 210/7305 | 426/18723 | 8.44e-06 | 9.02e-05 | 210 |
GO:00091001 | Oral cavity | OSCC | glycoprotein metabolic process | 185/7305 | 387/18723 | 2.37e-04 | 1.54e-03 | 185 |
GO:00300983 | Oral cavity | OSCC | lymphocyte differentiation | 179/7305 | 374/18723 | 2.74e-04 | 1.74e-03 | 179 |
GO:00091011 | Oral cavity | OSCC | glycoprotein biosynthetic process | 151/7305 | 317/18723 | 1.01e-03 | 5.26e-03 | 151 |
GO:00429823 | Oral cavity | OSCC | amyloid precursor protein metabolic process | 52/7305 | 95/18723 | 1.33e-03 | 6.62e-03 | 52 |
GO:004298211 | Oral cavity | LP | amyloid precursor protein metabolic process | 37/4623 | 95/18723 | 1.45e-03 | 1.14e-02 | 37 |
GO:19031318 | Skin | AK | mononuclear cell differentiation | 65/1910 | 426/18723 | 6.24e-04 | 5.45e-03 | 65 |
GO:00300985 | Skin | AK | lymphocyte differentiation | 57/1910 | 374/18723 | 1.34e-03 | 1.00e-02 | 57 |
GO:00429824 | Skin | AK | amyloid precursor protein metabolic process | 19/1910 | 95/18723 | 3.08e-03 | 1.92e-02 | 19 |
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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 |
ITM2A | SNV | Missense_Mutation | c.716N>A | p.Arg239His | p.R239H | O43736 | protein_coding | deleterious(0.02) | benign(0.014) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ITM2A | SNV | Missense_Mutation | rs781097959 | c.686N>A | p.Arg229His | p.R229H | O43736 | protein_coding | deleterious(0.03) | probably_damaging(0.939) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITM2A | SNV | Missense_Mutation | rs757729384 | c.685N>T | p.Arg229Cys | p.R229C | O43736 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ITM2A | SNV | Missense_Mutation | novel | c.424N>G | p.Ile142Val | p.I142V | O43736 | protein_coding | tolerated(1) | benign(0.007) | TCGA-B5-A1MX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Hormone Therapy | megace | SD |
ITM2A | SNV | Missense_Mutation | c.676N>T | p.Arg226Cys | p.R226C | O43736 | protein_coding | tolerated(0.07) | probably_damaging(0.91) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ITM2A | SNV | Missense_Mutation | c.708C>A | p.Phe236Leu | p.F236L | O43736 | protein_coding | tolerated(0.59) | benign(0) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
ITM2A | SNV | Missense_Mutation | c.31N>A | p.Ala11Thr | p.A11T | O43736 | protein_coding | deleterious(0.01) | benign(0.173) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ITM2A | SNV | Missense_Mutation | c.592N>T | p.Asp198Tyr | p.D198Y | O43736 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ITM2A | SNV | Missense_Mutation | novel | c.653N>G | p.Leu218Arg | p.L218R | O43736 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
ITM2A | SNV | Missense_Mutation | c.31N>A | p.Ala11Thr | p.A11T | O43736 | protein_coding | deleterious(0.01) | benign(0.173) | TCGA-DF-A2KZ-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 |
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