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Gene: FAM83H |
Gene summary for FAM83H |
Gene summary. |
Gene information | Species | Human | Gene symbol | FAM83H | Gene ID | 286077 |
Gene name | family with sequence similarity 83 member H | |
Gene Alias | AI3 | |
Cytomap | 8q24.3 | |
Gene Type | protein-coding | GO ID | GO:0006928 | UniProtAcc | Q6ZRV2 |
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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 |
286077 | FAM83H | HTA11_2487_2000001011 | Human | Colorectum | SER | 9.74e-06 | 3.93e-01 | -0.1808 |
286077 | FAM83H | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.26e-04 | 3.31e-01 | -0.0811 |
286077 | FAM83H | HTA11_78_2000001011 | Human | Colorectum | AD | 5.68e-10 | 4.18e-01 | -0.1088 |
286077 | FAM83H | HTA11_347_2000001011 | Human | Colorectum | AD | 1.82e-12 | 3.73e-01 | -0.1954 |
286077 | FAM83H | HTA11_2112_2000001011 | Human | Colorectum | SER | 2.48e-04 | 6.83e-01 | -0.2196 |
286077 | FAM83H | HTA11_83_2000001011 | Human | Colorectum | SER | 1.12e-04 | 3.28e-01 | -0.1526 |
286077 | FAM83H | HTA11_696_2000001011 | Human | Colorectum | AD | 6.17e-08 | 3.40e-01 | -0.1464 |
286077 | FAM83H | HTA11_866_2000001011 | Human | Colorectum | AD | 1.43e-02 | 1.64e-01 | -0.1001 |
286077 | FAM83H | HTA11_1391_2000001011 | Human | Colorectum | AD | 4.93e-14 | 5.25e-01 | -0.059 |
286077 | FAM83H | HTA11_546_2000001011 | Human | Colorectum | AD | 2.47e-02 | 2.83e-01 | -0.0842 |
286077 | FAM83H | HTA11_866_3004761011 | Human | Colorectum | AD | 3.50e-08 | 3.24e-01 | 0.096 |
286077 | FAM83H | HTA11_10623_2000001011 | Human | Colorectum | AD | 1.40e-02 | 3.46e-01 | -0.0177 |
286077 | FAM83H | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.18e-04 | 4.01e-01 | 0.0338 |
286077 | FAM83H | HTA11_7696_3000711011 | Human | Colorectum | AD | 4.18e-08 | 3.77e-01 | 0.0674 |
286077 | FAM83H | HTA11_7469_2000001011 | Human | Colorectum | AD | 9.11e-08 | 7.39e-01 | -0.0124 |
286077 | FAM83H | HTA11_6818_2000001021 | Human | Colorectum | AD | 1.14e-05 | 4.18e-01 | 0.0588 |
286077 | FAM83H | HTA11_99999970781_79442 | Human | Colorectum | MSS | 8.94e-15 | 5.20e-01 | 0.294 |
286077 | FAM83H | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.32e-03 | 2.79e-01 | 0.281 |
286077 | FAM83H | HTA11_99999971662_82457 | Human | Colorectum | MSS | 6.82e-33 | 1.01e+00 | 0.3859 |
286077 | FAM83H | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.72e-06 | 5.37e-01 | 0.2585 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0044380 | Colorectum | MSS | protein localization to cytoskeleton | 19/3467 | 58/18723 | 6.69e-03 | 4.38e-02 | 19 |
GO:00443804 | Esophagus | ESCC | protein localization to cytoskeleton | 45/8552 | 58/18723 | 6.89e-07 | 8.99e-06 | 45 |
GO:00451035 | Esophagus | ESCC | intermediate filament-based process | 32/8552 | 52/18723 | 1.55e-02 | 4.97e-02 | 32 |
GO:00443802 | Liver | HCC | protein localization to cytoskeleton | 38/7958 | 58/18723 | 3.37e-04 | 2.36e-03 | 38 |
GO:00451044 | Oral cavity | OSCC | intermediate filament cytoskeleton organization | 31/7305 | 51/18723 | 1.34e-03 | 6.62e-03 | 31 |
GO:00451034 | Oral cavity | OSCC | intermediate filament-based process | 31/7305 | 52/18723 | 2.08e-03 | 9.59e-03 | 31 |
GO:00443803 | Oral cavity | OSCC | protein localization to cytoskeleton | 33/7305 | 58/18723 | 4.32e-03 | 1.75e-02 | 33 |
GO:004510423 | Skin | cSCC | intermediate filament cytoskeleton organization | 24/4864 | 51/18723 | 9.43e-04 | 6.42e-03 | 24 |
GO:004510323 | Skin | cSCC | intermediate filament-based process | 24/4864 | 52/18723 | 1.32e-03 | 8.50e-03 | 24 |
GO:00443805 | Skin | cSCC | protein localization to cytoskeleton | 26/4864 | 58/18723 | 1.44e-03 | 9.09e-03 | 26 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
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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. |
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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 |
FAM83H | SNV | Missense_Mutation | rs782421757 | c.712N>A | p.Ala238Thr | p.A238T | Q6ZRV2 | protein_coding | tolerated(0.22) | benign(0.159) | TCGA-AR-A2LK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | anastrozole | PD |
FAM83H | SNV | Missense_Mutation | c.101N>A | p.Ala34Glu | p.A34E | Q6ZRV2 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-BH-A0DV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | CR | |
FAM83H | insertion | Frame_Shift_Ins | novel | c.3459_3460insTTGCACCCCGCTAAGT | p.Pro1154LeufsTer64 | p.P1154Lfs*64 | Q6ZRV2 | protein_coding | TCGA-BH-A0GY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyotxan | SD | ||
FAM83H | SNV | Missense_Mutation | rs782136025 | c.389N>T | p.Pro130Leu | p.P130L | Q6ZRV2 | protein_coding | deleterious(0.01) | possibly_damaging(0.874) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FAM83H | SNV | Missense_Mutation | novel | c.756G>C | p.Glu252Asp | p.E252D | Q6ZRV2 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
FAM83H | SNV | Missense_Mutation | novel | c.2819C>T | p.Thr940Ile | p.T940I | Q6ZRV2 | protein_coding | tolerated(0.06) | benign(0.034) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
FAM83H | SNV | Missense_Mutation | rs782447687 | c.496G>A | p.Glu166Lys | p.E166K | Q6ZRV2 | protein_coding | deleterious(0.01) | probably_damaging(0.967) | TCGA-UC-A7PG-06 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
FAM83H | insertion | Frame_Shift_Ins | novel | c.1774_1775insA | p.Gly592GlufsTer113 | p.G592Efs*113 | Q6ZRV2 | protein_coding | TCGA-DS-A1OD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | ||
FAM83H | SNV | Missense_Mutation | novel | c.2749N>T | p.Pro917Ser | p.P917S | Q6ZRV2 | protein_coding | tolerated_low_confidence(0.08) | benign(0.103) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
FAM83H | SNV | Missense_Mutation | c.1007N>G | p.Glu336Gly | p.E336G | Q6ZRV2 | protein_coding | deleterious(0.02) | benign(0.444) | TCGA-A6-3810-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
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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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