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Gene: PAFAH1B3 |
Gene summary for PAFAH1B3 |
Gene summary. |
Gene information | Species | Human | Gene symbol | PAFAH1B3 | Gene ID | 5050 |
Gene name | platelet activating factor acetylhydrolase 1b catalytic subunit 3 | |
Gene Alias | PAFAHG | |
Cytomap | 19q13.2 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024R0L6 |
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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 |
5050 | PAFAH1B3 | P28T-E | Human | Esophagus | ESCC | 3.55e-58 | 1.07e+00 | 0.1149 |
5050 | PAFAH1B3 | P30T-E | Human | Esophagus | ESCC | 1.28e-37 | 1.39e+00 | 0.137 |
5050 | PAFAH1B3 | P31T-E | Human | Esophagus | ESCC | 4.45e-86 | 1.46e+00 | 0.1251 |
5050 | PAFAH1B3 | P32T-E | Human | Esophagus | ESCC | 1.38e-74 | 1.54e+00 | 0.1666 |
5050 | PAFAH1B3 | P36T-E | Human | Esophagus | ESCC | 1.99e-29 | 1.16e+00 | 0.1187 |
5050 | PAFAH1B3 | P37T-E | Human | Esophagus | ESCC | 1.12e-63 | 1.33e+00 | 0.1371 |
5050 | PAFAH1B3 | P38T-E | Human | Esophagus | ESCC | 3.43e-18 | 5.57e-01 | 0.127 |
5050 | PAFAH1B3 | P39T-E | Human | Esophagus | ESCC | 2.44e-29 | 4.59e-01 | 0.0894 |
5050 | PAFAH1B3 | P40T-E | Human | Esophagus | ESCC | 1.58e-29 | 9.22e-01 | 0.109 |
5050 | PAFAH1B3 | P42T-E | Human | Esophagus | ESCC | 4.68e-26 | 7.41e-01 | 0.1175 |
5050 | PAFAH1B3 | P44T-E | Human | Esophagus | ESCC | 5.37e-13 | 5.36e-01 | 0.1096 |
5050 | PAFAH1B3 | P47T-E | Human | Esophagus | ESCC | 6.78e-26 | 5.15e-01 | 0.1067 |
5050 | PAFAH1B3 | P48T-E | Human | Esophagus | ESCC | 7.77e-29 | 5.40e-01 | 0.0959 |
5050 | PAFAH1B3 | P49T-E | Human | Esophagus | ESCC | 2.76e-15 | 1.92e+00 | 0.1768 |
5050 | PAFAH1B3 | P52T-E | Human | Esophagus | ESCC | 2.10e-76 | 1.30e+00 | 0.1555 |
5050 | PAFAH1B3 | P54T-E | Human | Esophagus | ESCC | 6.56e-53 | 1.15e+00 | 0.0975 |
5050 | PAFAH1B3 | P56T-E | Human | Esophagus | ESCC | 2.54e-12 | 1.23e+00 | 0.1613 |
5050 | PAFAH1B3 | P57T-E | Human | Esophagus | ESCC | 3.82e-27 | 6.35e-01 | 0.0926 |
5050 | PAFAH1B3 | P61T-E | Human | Esophagus | ESCC | 3.90e-33 | 9.35e-01 | 0.099 |
5050 | PAFAH1B3 | P62T-E | Human | Esophagus | ESCC | 3.51e-64 | 1.03e+00 | 0.1302 |
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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 |
GO:0016042 | Colorectum | AD | lipid catabolic process | 97/3918 | 320/18723 | 4.31e-05 | 7.56e-04 | 97 |
GO:00160421 | Colorectum | SER | lipid catabolic process | 77/2897 | 320/18723 | 3.52e-05 | 9.18e-04 | 77 |
GO:00160422 | Colorectum | MSS | lipid catabolic process | 77/3467 | 320/18723 | 7.43e-03 | 4.71e-02 | 77 |
GO:00160427 | Esophagus | ESCC | lipid catabolic process | 168/8552 | 320/18723 | 7.97e-03 | 2.84e-02 | 168 |
GO:001604212 | Liver | Cirrhotic | lipid catabolic process | 112/4634 | 320/18723 | 2.31e-05 | 3.03e-04 | 112 |
GO:001604221 | Liver | HCC | lipid catabolic process | 175/7958 | 320/18723 | 6.50e-06 | 7.88e-05 | 175 |
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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 |
PAFAH1B3 | SNV | Missense_Mutation | novel | c.641N>C | p.Arg214Pro | p.R214P | Q15102 | protein_coding | deleterious(0.01) | benign(0.01) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
PAFAH1B3 | SNV | Missense_Mutation | rs199807899 | c.448N>A | p.Glu150Lys | p.E150K | Q15102 | protein_coding | deleterious(0.01) | benign(0.093) | TCGA-HM-A4S6-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
PAFAH1B3 | insertion | Frame_Shift_Ins | novel | c.642_643insTGCAGAA | p.Leu215CysfsTer? | p.L215Cfs*? | Q15102 | protein_coding | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD | ||
PAFAH1B3 | SNV | Missense_Mutation | c.223N>A | p.Asp75Asn | p.D75N | Q15102 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PAFAH1B3 | SNV | Missense_Mutation | novel | c.156N>T | p.Met52Ile | p.M52I | Q15102 | protein_coding | deleterious(0.02) | benign(0.021) | TCGA-AG-4001-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PAFAH1B3 | SNV | Missense_Mutation | rs771659012 | c.380N>A | p.Arg127Gln | p.R127Q | Q15102 | protein_coding | tolerated(0.14) | benign(0.08) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR |
PAFAH1B3 | deletion | In_Frame_Del | novel | c.251_280delNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | p.Leu84_Arg93del | p.L84_R93del | Q15102 | protein_coding | TCGA-AA-3930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | capecitabine | PD | ||
PAFAH1B3 | SNV | Missense_Mutation | rs549905897 | c.175N>T | p.Arg59Cys | p.R59C | Q15102 | protein_coding | deleterious(0.01) | possibly_damaging(0.891) | TCGA-AJ-A3OJ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
PAFAH1B3 | SNV | Missense_Mutation | novel | c.655N>T | p.Asp219Tyr | p.D219Y | Q15102 | protein_coding | deleterious(0.03) | probably_damaging(0.993) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PAFAH1B3 | SNV | Missense_Mutation | novel | c.356C>A | p.Ala119Asp | p.A119D | Q15102 | protein_coding | tolerated(0.11) | probably_damaging(0.976) | TCGA-EO-A22U-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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