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Gene: FAM50A |
Gene summary for FAM50A |
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Gene information | Species | Human | Gene symbol | FAM50A | Gene ID | 9130 |
Gene name | family with sequence similarity 50 member A | |
Gene Alias | 9F | |
Cytomap | Xq28 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q14320 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9130 | FAM50A | LZE5T | Human | Esophagus | ESCC | 3.17e-03 | 4.92e-01 | 0.0514 |
9130 | FAM50A | LZE7T | Human | Esophagus | ESCC | 5.49e-11 | 5.22e-01 | 0.0667 |
9130 | FAM50A | LZE20T | Human | Esophagus | ESCC | 2.72e-09 | 5.32e-01 | 0.0662 |
9130 | FAM50A | LZE22T | Human | Esophagus | ESCC | 1.35e-06 | 6.67e-01 | 0.068 |
9130 | FAM50A | LZE24T | Human | Esophagus | ESCC | 1.06e-28 | 9.50e-01 | 0.0596 |
9130 | FAM50A | LZE21T | Human | Esophagus | ESCC | 7.59e-04 | 5.70e-01 | 0.0655 |
9130 | FAM50A | P1T-E | Human | Esophagus | ESCC | 3.40e-30 | 1.47e+00 | 0.0875 |
9130 | FAM50A | P2T-E | Human | Esophagus | ESCC | 1.28e-27 | 4.60e-01 | 0.1177 |
9130 | FAM50A | P4T-E | Human | Esophagus | ESCC | 6.32e-29 | 7.46e-01 | 0.1323 |
9130 | FAM50A | P5T-E | Human | Esophagus | ESCC | 2.75e-47 | 9.30e-01 | 0.1327 |
9130 | FAM50A | P8T-E | Human | Esophagus | ESCC | 1.29e-42 | 8.15e-01 | 0.0889 |
9130 | FAM50A | P9T-E | Human | Esophagus | ESCC | 5.31e-35 | 8.01e-01 | 0.1131 |
9130 | FAM50A | P10T-E | Human | Esophagus | ESCC | 6.01e-45 | 8.37e-01 | 0.116 |
9130 | FAM50A | P11T-E | Human | Esophagus | ESCC | 6.22e-32 | 1.06e+00 | 0.1426 |
9130 | FAM50A | P12T-E | Human | Esophagus | ESCC | 7.96e-60 | 1.00e+00 | 0.1122 |
9130 | FAM50A | P15T-E | Human | Esophagus | ESCC | 5.76e-39 | 7.05e-01 | 0.1149 |
9130 | FAM50A | P16T-E | Human | Esophagus | ESCC | 4.55e-18 | 3.97e-01 | 0.1153 |
9130 | FAM50A | P17T-E | Human | Esophagus | ESCC | 6.77e-20 | 9.21e-01 | 0.1278 |
9130 | FAM50A | P19T-E | Human | Esophagus | ESCC | 2.91e-26 | 1.74e+00 | 0.1662 |
9130 | FAM50A | P20T-E | Human | Esophagus | ESCC | 1.48e-11 | 5.01e-01 | 0.1124 |
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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:0008380113 | Thyroid | PTC | RNA splicing | 273/5968 | 434/18723 | 4.44e-41 | 1.40e-37 | 273 |
GO:0043484113 | Thyroid | PTC | regulation of RNA splicing | 102/5968 | 148/18723 | 2.03e-20 | 3.21e-18 | 102 |
GO:000632520 | Thyroid | PTC | chromatin organization | 183/5968 | 409/18723 | 2.55e-08 | 5.70e-07 | 183 |
GO:000838034 | Thyroid | ATC | RNA splicing | 270/6293 | 434/18723 | 7.50e-35 | 1.19e-31 | 270 |
GO:004348435 | Thyroid | ATC | regulation of RNA splicing | 100/6293 | 148/18723 | 2.75e-17 | 2.72e-15 | 100 |
GO:0006325110 | Thyroid | ATC | chromatin organization | 189/6293 | 409/18723 | 6.40e-08 | 1.13e-06 | 189 |
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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 |
FAM50A | insertion | Frame_Shift_Ins | novel | c.129_130insCCAGCAGGAGACCTGAAGAGCCAGAGCAGCTCAGGGATGGA | p.Asn44ProfsTer39 | p.N44Pfs*39 | Q14320 | protein_coding | TCGA-A8-A08T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | ||
FAM50A | SNV | Missense_Mutation | c.982G>A | p.Asp328Asn | p.D328N | Q14320 | protein_coding | deleterious(0.05) | benign(0.378) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
FAM50A | SNV | Missense_Mutation | rs782214551 | c.550N>T | p.Arg184Trp | p.R184W | Q14320 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-CM-6162-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
FAM50A | SNV | Missense_Mutation | rs141522232 | c.509G>A | p.Arg170Gln | p.R170Q | Q14320 | protein_coding | deleterious(0.01) | benign(0.062) | TCGA-F4-6856-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Ancillary | leucovorin | CR |
FAM50A | SNV | Missense_Mutation | c.818N>A | p.Arg273Gln | p.R273Q | Q14320 | protein_coding | deleterious(0.01) | possibly_damaging(0.81) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
FAM50A | SNV | Missense_Mutation | novel | c.533G>A | p.Arg178Gln | p.R178Q | Q14320 | protein_coding | tolerated(0.08) | possibly_damaging(0.533) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FAM50A | SNV | Missense_Mutation | c.866N>A | p.Arg289Gln | p.R289Q | Q14320 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A7WJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
FAM50A | SNV | Missense_Mutation | novel | c.250N>T | p.Arg84Trp | p.R84W | Q14320 | protein_coding | tolerated(0.06) | probably_damaging(0.999) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
FAM50A | SNV | Missense_Mutation | c.949N>T | p.His317Tyr | p.H317Y | Q14320 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FAM50A | SNV | Missense_Mutation | rs375558781 | c.638N>A | p.Arg213Gln | p.R213Q | Q14320 | protein_coding | deleterious(0) | benign(0.132) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | 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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