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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 | P11T-E | Human | Esophagus | ESCC | 2.26e-11 | 3.47e-01 | 0.1426 |
79932 | KIAA0319L | P12T-E | Human | Esophagus | ESCC | 3.85e-19 | 2.84e-01 | 0.1122 |
79932 | KIAA0319L | P15T-E | Human | Esophagus | ESCC | 2.52e-21 | 4.40e-01 | 0.1149 |
79932 | KIAA0319L | P16T-E | Human | Esophagus | ESCC | 6.48e-12 | 2.32e-01 | 0.1153 |
79932 | KIAA0319L | P17T-E | Human | Esophagus | ESCC | 5.45e-04 | 2.48e-01 | 0.1278 |
79932 | KIAA0319L | P19T-E | Human | Esophagus | ESCC | 3.77e-02 | 2.94e-01 | 0.1662 |
79932 | KIAA0319L | P20T-E | Human | Esophagus | ESCC | 1.28e-17 | 2.87e-01 | 0.1124 |
79932 | KIAA0319L | P21T-E | Human | Esophagus | ESCC | 4.77e-11 | 2.27e-01 | 0.1617 |
79932 | KIAA0319L | P22T-E | Human | Esophagus | ESCC | 1.12e-10 | 1.00e-01 | 0.1236 |
79932 | KIAA0319L | P23T-E | Human | Esophagus | ESCC | 1.19e-14 | 3.44e-01 | 0.108 |
79932 | KIAA0319L | P24T-E | Human | Esophagus | ESCC | 1.30e-20 | 1.67e-01 | 0.1287 |
79932 | KIAA0319L | P26T-E | Human | Esophagus | ESCC | 1.98e-12 | 3.23e-01 | 0.1276 |
79932 | KIAA0319L | P27T-E | Human | Esophagus | ESCC | 1.48e-20 | 3.60e-01 | 0.1055 |
79932 | KIAA0319L | P28T-E | Human | Esophagus | ESCC | 6.58e-08 | 1.79e-01 | 0.1149 |
79932 | KIAA0319L | P30T-E | Human | Esophagus | ESCC | 1.21e-06 | 4.24e-01 | 0.137 |
79932 | KIAA0319L | P31T-E | Human | Esophagus | ESCC | 1.94e-12 | 1.71e-01 | 0.1251 |
79932 | KIAA0319L | P32T-E | Human | Esophagus | ESCC | 5.79e-24 | 1.91e-01 | 0.1666 |
79932 | KIAA0319L | P36T-E | Human | Esophagus | ESCC | 1.22e-05 | 2.74e-01 | 0.1187 |
79932 | KIAA0319L | P37T-E | Human | Esophagus | ESCC | 5.42e-09 | 2.12e-01 | 0.1371 |
79932 | KIAA0319L | P39T-E | Human | Esophagus | ESCC | 2.45e-21 | 1.64e-01 | 0.0894 |
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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 |
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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 |
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 |
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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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