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Gene: PKHD1L1 |
Gene summary for PKHD1L1 |
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Gene information | Species | Human | Gene symbol | PKHD1L1 | Gene ID | 93035 |
Gene name | PKHD1 like 1 | |
Gene Alias | PKHDL1 | |
Cytomap | 8q23.1-q23.2 | |
Gene Type | protein-coding | GO ID | GO:0002376 | UniProtAcc | Q86WI1 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
93035 | PKHD1L1 | AEH-subject1 | Human | Endometrium | AEH | 6.64e-04 | 3.40e-01 | -0.3059 |
93035 | PKHD1L1 | AEH-subject2 | Human | Endometrium | AEH | 2.79e-11 | 5.40e-01 | -0.2525 |
93035 | PKHD1L1 | AEH-subject3 | Human | Endometrium | AEH | 1.67e-37 | 9.11e-01 | -0.2576 |
93035 | PKHD1L1 | AEH-subject4 | Human | Endometrium | AEH | 4.30e-22 | 7.97e-01 | -0.2657 |
93035 | PKHD1L1 | AEH-subject5 | Human | Endometrium | AEH | 3.99e-91 | 1.48e+00 | -0.2953 |
93035 | PKHD1L1 | EEC-subject1 | Human | Endometrium | EEC | 1.49e-31 | 8.25e-01 | -0.2682 |
93035 | PKHD1L1 | EEC-subject2 | Human | Endometrium | EEC | 3.28e-09 | 4.13e-01 | -0.2607 |
93035 | PKHD1L1 | EEC-subject4 | Human | Endometrium | EEC | 1.50e-70 | 1.43e+00 | -0.2571 |
93035 | PKHD1L1 | EEC-subject5 | Human | Endometrium | EEC | 4.22e-07 | 3.50e-01 | -0.249 |
93035 | PKHD1L1 | male-WTA | Human | Thyroid | PTC | 3.66e-10 | 1.47e-01 | 0.1037 |
93035 | PKHD1L1 | nodule-WTA | Human | Thyroid | goiters | 6.71e-04 | 3.55e-01 | 0.0534 |
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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 |
PKHD1L1 | insertion | In_Frame_Ins | novel | c.4319_4320insAAAAGAAAAAGAGAA | p.Phe1440delinsLeuLysGluLysGluAsn | p.F1440delinsLKEKEN | Q86WI1 | protein_coding | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | insertion | Nonsense_Mutation | novel | c.11800_11801insGCTAAGTATTTTATATTATCACAAT | p.Thr3934SerfsTer2 | p.T3934Sfs*2 | Q86WI1 | protein_coding | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | insertion | Frame_Shift_Ins | novel | c.1367_1368insA | p.Glu458ArgfsTer5 | p.E458Rfs*5 | Q86WI1 | protein_coding | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | insertion | Nonsense_Mutation | novel | c.2225_2226insCTGA | p.Tyr743Ter | p.Y743* | Q86WI1 | protein_coding | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | insertion | Frame_Shift_Ins | novel | c.2227_2228insACTTTAACTTTAG | p.Asn744PhefsTer5 | p.N744Ffs*5 | Q86WI1 | protein_coding | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | deletion | Frame_Shift_Del | rs778235282 | c.6563delG | p.Gly2188GlufsTer28 | p.G2188Efs*28 | Q86WI1 | protein_coding | TCGA-NH-A5IV-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
PKHD1L1 | SNV | Missense_Mutation | novel | c.902N>A | p.Pro301His | p.P301H | Q86WI1 | protein_coding | deleterious(0) | probably_damaging(0.935) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKHD1L1 | SNV | Missense_Mutation | rs754472022 | c.4052N>A | p.Arg1351Lys | p.R1351K | Q86WI1 | protein_coding | tolerated(0.47) | benign(0) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKHD1L1 | SNV | Missense_Mutation | rs200184653 | c.7109N>T | p.Thr2370Met | p.T2370M | Q86WI1 | protein_coding | deleterious(0) | benign(0.233) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PKHD1L1 | SNV | Missense_Mutation | novel | c.10423N>T | p.Leu3475Phe | p.L3475F | Q86WI1 | protein_coding | tolerated(0.62) | possibly_damaging(0.722) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | 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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