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Gene: H2AFV |
Gene summary for H2AFV |
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Gene information | Species | Human | Gene symbol | H2AFV | Gene ID | 94239 |
Gene name | H2A.Z variant histone 2 | |
Gene Alias | H2A.Z-2 | |
Cytomap | 7p13 | |
Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q71UI9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
94239 | H2AFV | P48T-E | Human | Esophagus | ESCC | 1.36e-43 | 1.26e+00 | 0.0959 |
94239 | H2AFV | P49T-E | Human | Esophagus | ESCC | 3.11e-24 | 3.47e+00 | 0.1768 |
94239 | H2AFV | P52T-E | Human | Esophagus | ESCC | 6.75e-104 | 2.52e+00 | 0.1555 |
94239 | H2AFV | P54T-E | Human | Esophagus | ESCC | 1.47e-51 | 1.62e+00 | 0.0975 |
94239 | H2AFV | P56T-E | Human | Esophagus | ESCC | 1.52e-10 | 2.31e+00 | 0.1613 |
94239 | H2AFV | P57T-E | Human | Esophagus | ESCC | 8.21e-33 | 1.14e+00 | 0.0926 |
94239 | H2AFV | P61T-E | Human | Esophagus | ESCC | 2.09e-25 | 1.06e+00 | 0.099 |
94239 | H2AFV | P62T-E | Human | Esophagus | ESCC | 4.25e-93 | 1.90e+00 | 0.1302 |
94239 | H2AFV | P65T-E | Human | Esophagus | ESCC | 3.78e-44 | 1.15e+00 | 0.0978 |
94239 | H2AFV | P74T-E | Human | Esophagus | ESCC | 2.65e-61 | 2.44e+00 | 0.1479 |
94239 | H2AFV | P75T-E | Human | Esophagus | ESCC | 1.54e-58 | 1.57e+00 | 0.1125 |
94239 | H2AFV | P76T-E | Human | Esophagus | ESCC | 1.21e-46 | 1.58e+00 | 0.1207 |
94239 | H2AFV | P79T-E | Human | Esophagus | ESCC | 1.28e-55 | 1.38e+00 | 0.1154 |
94239 | H2AFV | P80T-E | Human | Esophagus | ESCC | 2.01e-43 | 1.53e+00 | 0.155 |
94239 | H2AFV | P82T-E | Human | Esophagus | ESCC | 3.72e-26 | 1.66e+00 | 0.1072 |
94239 | H2AFV | P83T-E | Human | Esophagus | ESCC | 4.48e-69 | 3.18e+00 | 0.1738 |
94239 | H2AFV | P84T-E | Human | Esophagus | ESCC | 3.03e-07 | 8.59e-01 | 0.0933 |
94239 | H2AFV | P89T-E | Human | Esophagus | ESCC | 1.97e-26 | 2.81e+00 | 0.1752 |
94239 | H2AFV | P91T-E | Human | Esophagus | ESCC | 1.25e-20 | 3.18e+00 | 0.1828 |
94239 | H2AFV | P107T-E | Human | Esophagus | ESCC | 1.40e-70 | 2.17e+00 | 0.171 |
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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 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05322 | Cervix | HSIL_HPV | Systemic lupus erythematosus | 19/459 | 137/8465 | 1.40e-04 | 1.74e-03 | 1.40e-03 | 19 |
hsa053221 | Cervix | HSIL_HPV | Systemic lupus erythematosus | 19/459 | 137/8465 | 1.40e-04 | 1.74e-03 | 1.40e-03 | 19 |
hsa04217 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
hsa042171 | Colorectum | SER | Necroptosis | 47/1580 | 159/8465 | 5.21e-04 | 4.44e-03 | 3.22e-03 | 47 |
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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 |
H2AFV | SNV | Missense_Mutation | c.296C>A | p.Ser99Tyr | p.S99Y | Q71UI9 | protein_coding | deleterious(0) | possibly_damaging(0.552) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
H2AFV | SNV | Missense_Mutation | rs867152303 | c.95N>A | p.Arg32His | p.R32H | Q71UI9 | protein_coding | tolerated(0.08) | benign(0.005) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
H2AFV | SNV | Missense_Mutation | c.229C>A | p.Leu77Ile | p.L77I | Q71UI9 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-AP-A0L8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD | |
H2AFV | SNV | Missense_Mutation | novel | c.155N>T | p.Ala52Val | p.A52V | Q71UI9 | protein_coding | deleterious(0.03) | possibly_damaging(0.667) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
H2AFV | SNV | Missense_Mutation | c.241N>T | p.Arg81Cys | p.R81C | Q71UI9 | protein_coding | deleterious(0.03) | benign(0.012) | TCGA-BS-A0UA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
H2AFV | SNV | Missense_Mutation | c.296N>A | p.Ser99Tyr | p.S99Y | Q71UI9 | protein_coding | deleterious(0) | possibly_damaging(0.552) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
H2AFV | SNV | Missense_Mutation | novel | c.299N>G | p.Leu100Arg | p.L100R | Q71UI9 | protein_coding | deleterious(0) | probably_damaging(0.937) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
H2AFV | SNV | Missense_Mutation | novel | c.49N>A | p.Ala17Thr | p.A17T | Q71UI9 | protein_coding | deleterious(0.04) | benign(0.22) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
H2AFV | SNV | Missense_Mutation | c.119N>A | p.Arg40His | p.R40H | Q71UI9 | protein_coding | deleterious(0.03) | probably_damaging(0.92) | TCGA-FI-A2EX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD | |
H2AFV | SNV | Missense_Mutation | c.229N>G | p.Leu77Val | p.L77V | Q71UI9 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-67-3771-01 | Lung | lung adenocarcinoma | 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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