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Gene: FAM46A |
Gene summary for FAM46A |
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Gene information | Species | Human | Gene symbol | FAM46A | Gene ID | 55603 |
Gene name | terminal nucleotidyltransferase 5A | |
Gene Alias | C6orf37 | |
Cytomap | 6q14.1 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q96IP4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55603 | FAM46A | LZE4T | Human | Esophagus | ESCC | 4.49e-02 | -3.26e-01 | 0.0811 |
55603 | FAM46A | LZE24T | Human | Esophagus | ESCC | 6.32e-04 | -3.26e-01 | 0.0596 |
55603 | FAM46A | P1T-E | Human | Esophagus | ESCC | 4.66e-08 | 9.43e-01 | 0.0875 |
55603 | FAM46A | P2T-E | Human | Esophagus | ESCC | 1.48e-08 | 1.63e-01 | 0.1177 |
55603 | FAM46A | P4T-E | Human | Esophagus | ESCC | 6.91e-07 | 5.69e-01 | 0.1323 |
55603 | FAM46A | P5T-E | Human | Esophagus | ESCC | 1.24e-25 | 8.64e-01 | 0.1327 |
55603 | FAM46A | P8T-E | Human | Esophagus | ESCC | 9.88e-10 | 3.83e-01 | 0.0889 |
55603 | FAM46A | P10T-E | Human | Esophagus | ESCC | 4.65e-08 | -2.20e-01 | 0.116 |
55603 | FAM46A | P11T-E | Human | Esophagus | ESCC | 1.07e-27 | 2.22e+00 | 0.1426 |
55603 | FAM46A | P12T-E | Human | Esophagus | ESCC | 1.01e-12 | 6.12e-01 | 0.1122 |
55603 | FAM46A | P16T-E | Human | Esophagus | ESCC | 4.21e-51 | 1.64e+00 | 0.1153 |
55603 | FAM46A | P19T-E | Human | Esophagus | ESCC | 3.23e-02 | 3.48e-01 | 0.1662 |
55603 | FAM46A | P21T-E | Human | Esophagus | ESCC | 5.67e-21 | 6.33e-01 | 0.1617 |
55603 | FAM46A | P23T-E | Human | Esophagus | ESCC | 2.92e-06 | 7.27e-01 | 0.108 |
55603 | FAM46A | P24T-E | Human | Esophagus | ESCC | 4.80e-02 | 1.53e-02 | 0.1287 |
55603 | FAM46A | P27T-E | Human | Esophagus | ESCC | 1.75e-23 | 9.24e-01 | 0.1055 |
55603 | FAM46A | P28T-E | Human | Esophagus | ESCC | 6.39e-04 | 5.39e-01 | 0.1149 |
55603 | FAM46A | P30T-E | Human | Esophagus | ESCC | 1.97e-02 | 4.39e-01 | 0.137 |
55603 | FAM46A | P31T-E | Human | Esophagus | ESCC | 9.01e-07 | 2.67e-01 | 0.1251 |
55603 | FAM46A | P32T-E | Human | Esophagus | ESCC | 3.30e-21 | 8.32e-01 | 0.1666 |
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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 |
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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 |
FAM46A | SNV | Missense_Mutation | c.414G>C | p.Lys138Asn | p.K138N | Q96IP4 | protein_coding | tolerated(0.67) | probably_damaging(0.951) | TCGA-E2-A14R-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD | |
FAM46A | SNV | Missense_Mutation | rs187377487 | c.925N>A | p.Asp309Asn | p.D309N | Q96IP4 | protein_coding | tolerated(0.07) | benign(0.112) | TCGA-GM-A2DH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxol | CR |
FAM46A | insertion | In_Frame_Ins | novel | c.662_663insTTGTAAGTT | p.Ser221_Leu222insCysLysPhe | p.S221_L222insCKF | Q96IP4 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
FAM46A | insertion | Frame_Shift_Ins | novel | c.661_662insTCTATGTACCTAAATCAAATGGTTA | p.Ser221PhefsTer15 | p.S221Ffs*15 | Q96IP4 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
FAM46A | SNV | Missense_Mutation | novel | c.919N>A | p.Ala307Thr | p.A307T | Q96IP4 | protein_coding | tolerated(0.05) | benign(0.023) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
FAM46A | SNV | Missense_Mutation | c.959C>T | p.Ser320Phe | p.S320F | Q96IP4 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-FU-A5XV-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
FAM46A | SNV | Missense_Mutation | novel | c.523N>G | p.Lys175Glu | p.K175E | Q96IP4 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
FAM46A | SNV | Missense_Mutation | c.1133N>C | p.Leu378Ser | p.L378S | Q96IP4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
FAM46A | SNV | Missense_Mutation | c.1222N>C | p.Ala408Pro | p.A408P | Q96IP4 | protein_coding | tolerated(0.11) | probably_damaging(0.994) | TCGA-D5-6920-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FAM46A | SNV | Missense_Mutation | rs781338532 | c.866N>A | p.Arg289Gln | p.R289Q | Q96IP4 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-G4-6586-01 | Colorectum | colon 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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