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Gene: FAM53B |
Gene summary for FAM53B |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | FAM53B | Gene ID | 9679 |
| Gene name | family with sequence similarity 53 member B | |
| Gene Alias | KIAA0140 | |
| Cytomap | 10q26.13 | |
| Gene Type | protein-coding | GO ID | GO:0006606 | UniProtAcc | Q14153 |
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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 |
| 9679 | FAM53B | C04 | Human | Oral cavity | OSCC | 4.16e-05 | 4.50e-01 | 0.2633 |
| 9679 | FAM53B | C30 | Human | Oral cavity | OSCC | 1.92e-18 | 7.77e-01 | 0.3055 |
| 9679 | FAM53B | C38 | Human | Oral cavity | OSCC | 1.39e-08 | 8.44e-01 | 0.172 |
| 9679 | FAM53B | C43 | Human | Oral cavity | OSCC | 6.69e-03 | 1.38e-01 | 0.1704 |
| 9679 | FAM53B | C46 | Human | Oral cavity | OSCC | 5.41e-07 | 2.76e-01 | 0.1673 |
| 9679 | FAM53B | C51 | Human | Oral cavity | OSCC | 9.93e-04 | 3.16e-01 | 0.2674 |
| 9679 | FAM53B | C09 | Human | Oral cavity | OSCC | 1.47e-02 | 2.34e-01 | 0.1431 |
| 9679 | FAM53B | LN38 | Human | Oral cavity | OSCC | 3.01e-03 | 8.47e-01 | 0.168 |
| 9679 | FAM53B | LN46 | Human | Oral cavity | OSCC | 1.38e-05 | 3.88e-01 | 0.1666 |
| 9679 | FAM53B | EOLP-1 | Human | Oral cavity | EOLP | 4.53e-05 | 3.78e-01 | -0.0202 |
| 9679 | FAM53B | SYSMH2 | Human | Oral cavity | OSCC | 1.18e-03 | 1.65e-01 | 0.2326 |
| 9679 | FAM53B | SYSMH3 | Human | Oral cavity | OSCC | 1.11e-08 | 3.04e-01 | 0.2442 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:007259418 | Oral cavity | OSCC | establishment of protein localization to organelle | 284/7305 | 422/18723 | 1.50e-32 | 1.35e-29 | 284 |
| GO:000691317 | Oral cavity | OSCC | nucleocytoplasmic transport | 204/7305 | 301/18723 | 2.65e-24 | 6.98e-22 | 204 |
| GO:005116917 | Oral cavity | OSCC | nuclear transport | 204/7305 | 301/18723 | 2.65e-24 | 6.98e-22 | 204 |
| GO:003450415 | Oral cavity | OSCC | protein localization to nucleus | 193/7305 | 290/18723 | 1.22e-21 | 2.35e-19 | 193 |
| GO:001703815 | Oral cavity | OSCC | protein import | 136/7305 | 206/18723 | 3.15e-15 | 2.08e-13 | 136 |
| GO:00511709 | Oral cavity | OSCC | import into nucleus | 100/7305 | 159/18723 | 8.67e-10 | 2.15e-08 | 100 |
| GO:00066069 | Oral cavity | OSCC | protein import into nucleus | 97/7305 | 155/18723 | 2.27e-09 | 5.30e-08 | 97 |
| GO:001605510 | Oral cavity | OSCC | Wnt signaling pathway | 227/7305 | 444/18723 | 1.10e-07 | 1.87e-06 | 227 |
| GO:019873810 | Oral cavity | OSCC | cell-cell signaling by wnt | 227/7305 | 446/18723 | 1.75e-07 | 2.86e-06 | 227 |
| GO:003011110 | Oral cavity | OSCC | regulation of Wnt signaling pathway | 165/7305 | 328/18723 | 1.87e-05 | 1.80e-04 | 165 |
| GO:00902639 | Oral cavity | OSCC | positive regulation of canonical Wnt signaling pathway | 62/7305 | 106/18723 | 3.72e-05 | 3.31e-04 | 62 |
| GO:006082810 | Oral cavity | OSCC | regulation of canonical Wnt signaling pathway | 128/7305 | 253/18723 | 1.11e-04 | 8.16e-04 | 128 |
| GO:006007010 | Oral cavity | OSCC | canonical Wnt signaling pathway | 148/7305 | 303/18723 | 2.89e-04 | 1.82e-03 | 148 |
| GO:00301779 | Oral cavity | OSCC | positive regulation of Wnt signaling pathway | 73/7305 | 140/18723 | 1.06e-03 | 5.46e-03 | 73 |
| GO:000691323 | Oral cavity | EOLP | nucleocytoplasmic transport | 87/2218 | 301/18723 | 7.30e-16 | 4.37e-13 | 87 |
| GO:005116923 | Oral cavity | EOLP | nuclear transport | 87/2218 | 301/18723 | 7.30e-16 | 4.37e-13 | 87 |
| GO:007259425 | Oral cavity | EOLP | establishment of protein localization to organelle | 108/2218 | 422/18723 | 2.91e-15 | 1.45e-12 | 108 |
| GO:003450422 | Oral cavity | EOLP | protein localization to nucleus | 72/2218 | 290/18723 | 5.47e-10 | 4.31e-08 | 72 |
| GO:001703821 | Oral cavity | EOLP | protein import | 53/2218 | 206/18723 | 2.82e-08 | 1.15e-06 | 53 |
| GO:005117021 | Oral cavity | EOLP | import into nucleus | 42/2218 | 159/18723 | 3.47e-07 | 1.01e-05 | 42 |
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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. |
| Page: 1 |
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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 |
| FAM53B | insertion | In_Frame_Ins | novel | c.668_669insTCTATTTACAAGCAAATATTCCCTTTC | p.Leu223_Asp224insLeuPheThrSerLysTyrSerLeuSer | p.L223_D224insLFTSKYSLS | Q14153 | protein_coding | TCGA-BH-A0B1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin | SD | ||
| FAM53B | SNV | Missense_Mutation | c.93G>C | p.Lys31Asn | p.K31N | Q14153 | protein_coding | tolerated(0.1) | possibly_damaging(0.728) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD | |
| FAM53B | SNV | Missense_Mutation | novel | c.488N>G | p.Gln163Arg | p.Q163R | Q14153 | protein_coding | deleterious(0) | possibly_damaging(0.536) | TCGA-AD-6888-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
| FAM53B | SNV | Missense_Mutation | c.1124G>A | p.Cys375Tyr | p.C375Y | Q14153 | protein_coding | tolerated(1) | benign(0.118) | TCGA-D5-6540-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
| FAM53B | SNV | Missense_Mutation | c.1231G>A | p.Asp411Asn | p.D411N | Q14153 | protein_coding | tolerated(0.29) | probably_damaging(0.935) | TCGA-AF-A56N-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR | |
| FAM53B | SNV | Missense_Mutation | c.109A>T | p.Thr37Ser | p.T37S | Q14153 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-AF-A56N-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Chemotherapy | xeloda | CR | |
| FAM53B | SNV | Missense_Mutation | novel | c.1181N>T | p.Ala394Val | p.A394V | Q14153 | protein_coding | tolerated(0.36) | benign(0.006) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
| FAM53B | SNV | Missense_Mutation | c.401G>A | p.Gly134Asp | p.G134D | Q14153 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| FAM53B | SNV | Missense_Mutation | c.1263N>T | p.Lys421Asn | p.K421N | Q14153 | protein_coding | tolerated(0.61) | benign(0) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
| FAM53B | SNV | Missense_Mutation | rs149967922 | c.1201N>A | p.Gly401Arg | p.G401R | Q14153 | protein_coding | tolerated(0.19) | benign(0.007) | TCGA-AX-A2HJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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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