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Gene: KIAA0319L |
Gene summary for KIAA0319L |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | KIAA0319L | Gene ID | 79932 |
| Gene name | KIAA0319 like | |
| Gene Alias | AAVR | |
| Cytomap | 1p34.3 | |
| Gene Type | protein-coding | GO ID | GO:0000139 | UniProtAcc | Q8IZA0 |
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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 |
| 79932 | KIAA0319L | HTA11_3410_2000001011 | Human | Colorectum | AD | 5.98e-08 | -3.44e-01 | 0.0155 |
| 79932 | KIAA0319L | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 2.16e-02 | 8.70e-01 | 0.3487 |
| 79932 | KIAA0319L | A001-C-207 | Human | Colorectum | FAP | 1.51e-02 | -9.49e-02 | 0.1278 |
| 79932 | KIAA0319L | A015-C-203 | Human | Colorectum | FAP | 1.85e-22 | -4.28e-01 | -0.1294 |
| 79932 | KIAA0319L | A015-C-204 | Human | Colorectum | FAP | 5.01e-08 | -3.52e-01 | -0.0228 |
| 79932 | KIAA0319L | A014-C-040 | Human | Colorectum | FAP | 1.18e-02 | -1.02e-01 | -0.1184 |
| 79932 | KIAA0319L | A002-C-201 | Human | Colorectum | FAP | 1.09e-13 | -3.16e-01 | 0.0324 |
| 79932 | KIAA0319L | A001-C-119 | Human | Colorectum | FAP | 5.88e-05 | -3.06e-01 | -0.1557 |
| 79932 | KIAA0319L | A001-C-108 | Human | Colorectum | FAP | 3.93e-09 | -4.98e-02 | -0.0272 |
| 79932 | KIAA0319L | A002-C-205 | Human | Colorectum | FAP | 3.85e-24 | -4.87e-01 | -0.1236 |
| 79932 | KIAA0319L | A015-C-005 | Human | Colorectum | FAP | 2.86e-02 | -1.43e-02 | -0.0336 |
| 79932 | KIAA0319L | A015-C-006 | Human | Colorectum | FAP | 2.88e-13 | -3.42e-01 | -0.0994 |
| 79932 | KIAA0319L | A015-C-106 | Human | Colorectum | FAP | 3.88e-08 | -2.06e-01 | -0.0511 |
| 79932 | KIAA0319L | A002-C-114 | Human | Colorectum | FAP | 4.69e-18 | -3.70e-01 | -0.1561 |
| 79932 | KIAA0319L | A015-C-104 | Human | Colorectum | FAP | 4.52e-26 | -4.04e-01 | -0.1899 |
| 79932 | KIAA0319L | A001-C-014 | Human | Colorectum | FAP | 3.00e-08 | -2.05e-01 | 0.0135 |
| 79932 | KIAA0319L | A002-C-016 | Human | Colorectum | FAP | 1.11e-20 | -3.90e-01 | 0.0521 |
| 79932 | KIAA0319L | A015-C-002 | Human | Colorectum | FAP | 6.41e-10 | -2.83e-01 | -0.0763 |
| 79932 | KIAA0319L | A001-C-203 | Human | Colorectum | FAP | 4.87e-06 | -1.06e-01 | -0.0481 |
| 79932 | KIAA0319L | A002-C-116 | Human | Colorectum | FAP | 1.97e-30 | -5.13e-01 | -0.0452 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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 |
| Page: 1 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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 |
| KIAA0319L | SNV | Missense_Mutation | rs767522854 | c.1109N>T | p.Ser370Leu | p.S370L | Q8IZA0 | protein_coding | deleterious(0.03) | possibly_damaging(0.733) | TCGA-A2-A04V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | PD |
| KIAA0319L | SNV | Missense_Mutation | c.2921C>A | p.Thr974Lys | p.T974K | Q8IZA0 | protein_coding | tolerated(0.11) | benign(0.229) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | |
| KIAA0319L | SNV | Missense_Mutation | c.1853T>A | p.Leu618Gln | p.L618Q | Q8IZA0 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD | |
| KIAA0319L | SNV | Missense_Mutation | novel | c.1787A>C | p.Asn596Thr | p.N596T | Q8IZA0 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KIAA0319L | SNV | Missense_Mutation | novel | c.1256N>A | p.Ile419Asn | p.I419N | Q8IZA0 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-OL-A5D7-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
| KIAA0319L | SNV | Missense_Mutation | novel | c.2834N>A | p.Gly945Glu | p.G945E | Q8IZA0 | protein_coding | deleterious(0.01) | probably_damaging(0.96) | TCGA-OL-A66J-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| KIAA0319L | SNV | Missense_Mutation | novel | c.2137G>A | p.Asp713Asn | p.D713N | Q8IZA0 | protein_coding | tolerated(0.05) | possibly_damaging(0.86) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
| KIAA0319L | insertion | In_Frame_Ins | novel | c.1616_1617insTTGCCCCATTTCCTTTTCTTT | p.Ser539_Leu540insCysProIleSerPheSerLeu | p.S539_L540insCPISFSL | Q8IZA0 | protein_coding | TCGA-A2-A0EO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
| KIAA0319L | insertion | Frame_Shift_Ins | novel | c.1464dupT | p.Thr489TyrfsTer41 | p.T489Yfs*41 | Q8IZA0 | protein_coding | TCGA-AC-A3QP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD | ||
| KIAA0319L | insertion | Nonsense_Mutation | novel | c.290_291insAGAGTTTATTCTGCTTATTATGTTTCTTCATTGTTGATC | p.Val97_Phe98insGluPheIleLeuLeuIleMetPheLeuHisCysTerSer | p.V97_F98insEFILLIMFLHC*S | Q8IZA0 | protein_coding | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
| Page: 1 2 3 4 5 6 7 8 9 10 11 |
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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 |
| Page: 1 |
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