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Gene: ITIH1 |
Gene summary for ITIH1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | ITIH1 | Gene ID | 3697 |
Gene name | inter-alpha-trypsin inhibitor heavy chain 1 | |
Gene Alias | H1P | |
Cytomap | 3p21.1 | |
Gene Type | protein-coding | GO ID | GO:0006022 | UniProtAcc | P19827 |
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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 |
3697 | ITIH1 | NAFLD1 | Human | Liver | NAFLD | 8.78e-05 | 4.89e-01 | -0.04 |
3697 | ITIH1 | S43 | Human | Liver | Cirrhotic | 4.07e-05 | -5.03e-02 | -0.0187 |
3697 | ITIH1 | HCC1_Meng | Human | Liver | HCC | 4.39e-55 | 2.28e-02 | 0.0246 |
3697 | ITIH1 | HCC2_Meng | Human | Liver | HCC | 2.32e-08 | -2.42e-01 | 0.0107 |
3697 | ITIH1 | HCC1 | Human | Liver | HCC | 2.01e-19 | 4.63e+00 | 0.5336 |
3697 | ITIH1 | HCC2 | Human | Liver | HCC | 4.16e-57 | 6.79e+00 | 0.5341 |
3697 | ITIH1 | HCC5 | Human | Liver | HCC | 5.36e-03 | 4.34e+00 | 0.4932 |
3697 | ITIH1 | Pt13.b | Human | Liver | HCC | 3.13e-23 | 2.88e-01 | 0.0251 |
3697 | ITIH1 | Pt13.c | Human | Liver | HCC | 1.60e-06 | 5.22e-01 | 0.0076 |
3697 | ITIH1 | Pt14.a | Human | Liver | HCC | 3.20e-13 | 6.34e-01 | 0.0169 |
3697 | ITIH1 | Pt14.b | Human | Liver | HCC | 2.86e-21 | 7.96e-01 | 0.018 |
3697 | ITIH1 | Pt14.c | Human | Liver | HCC | 1.40e-06 | 7.48e-01 | 0.0054 |
3697 | ITIH1 | Pt14.d | Human | Liver | HCC | 7.88e-06 | 4.45e-01 | 0.0143 |
3697 | ITIH1 | S027 | Human | Liver | HCC | 6.85e-24 | 2.82e+00 | 0.2446 |
3697 | ITIH1 | S028 | Human | Liver | HCC | 5.78e-61 | 3.01e+00 | 0.2503 |
3697 | ITIH1 | S029 | Human | Liver | HCC | 8.04e-62 | 3.35e+00 | 0.2581 |
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Transcriptomic changes along malignancy continuum. |
Tissue | Expression Dynamics | Abbreviation |
Liver | HCC: Hepatocellular carcinoma | |
NAFLD: Non-alcoholic fatty liver disease |
∗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:00458617 | Liver | NAFLD | negative regulation of proteolysis | 66/1882 | 351/18723 | 4.02e-07 | 2.58e-05 | 66 |
GO:00513467 | Liver | NAFLD | negative regulation of hydrolase activity | 62/1882 | 379/18723 | 8.11e-05 | 1.66e-03 | 62 |
GO:00525477 | Liver | NAFLD | regulation of peptidase activity | 72/1882 | 461/18723 | 1.03e-04 | 2.03e-03 | 72 |
GO:00525487 | Liver | NAFLD | regulation of endopeptidase activity | 67/1882 | 432/18723 | 2.17e-04 | 3.70e-03 | 67 |
GO:00109517 | Liver | NAFLD | negative regulation of endopeptidase activity | 42/1882 | 252/18723 | 7.29e-04 | 9.29e-03 | 42 |
GO:00104667 | Liver | NAFLD | negative regulation of peptidase activity | 43/1882 | 262/18723 | 8.76e-04 | 1.07e-02 | 43 |
GO:005254712 | Liver | Cirrhotic | regulation of peptidase activity | 185/4634 | 461/18723 | 1.32e-13 | 1.09e-11 | 185 |
GO:005254812 | Liver | Cirrhotic | regulation of endopeptidase activity | 172/4634 | 432/18723 | 2.12e-12 | 1.58e-10 | 172 |
GO:004586112 | Liver | Cirrhotic | negative regulation of proteolysis | 136/4634 | 351/18723 | 3.46e-09 | 1.42e-07 | 136 |
GO:005134612 | Liver | Cirrhotic | negative regulation of hydrolase activity | 139/4634 | 379/18723 | 1.24e-07 | 3.42e-06 | 139 |
GO:001095111 | Liver | Cirrhotic | negative regulation of endopeptidase activity | 98/4634 | 252/18723 | 4.19e-07 | 9.77e-06 | 98 |
GO:001046612 | Liver | Cirrhotic | negative regulation of peptidase activity | 100/4634 | 262/18723 | 8.90e-07 | 1.84e-05 | 100 |
GO:005254722 | Liver | HCC | regulation of peptidase activity | 247/7958 | 461/18723 | 8.28e-07 | 1.27e-05 | 247 |
GO:005254822 | Liver | HCC | regulation of endopeptidase activity | 230/7958 | 432/18723 | 3.58e-06 | 4.68e-05 | 230 |
GO:004586122 | Liver | HCC | negative regulation of proteolysis | 186/7958 | 351/18723 | 4.19e-05 | 4.11e-04 | 186 |
GO:005134622 | Liver | HCC | negative regulation of hydrolase activity | 195/7958 | 379/18723 | 2.44e-04 | 1.82e-03 | 195 |
GO:001095121 | Liver | HCC | negative regulation of endopeptidase activity | 129/7958 | 252/18723 | 3.17e-03 | 1.47e-02 | 129 |
GO:001046621 | Liver | HCC | negative regulation of peptidase activity | 132/7958 | 262/18723 | 5.82e-03 | 2.42e-02 | 132 |
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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 |
ITIH1 | SNV | Missense_Mutation | c.838T>A | p.Phe280Ile | p.F280I | P19827 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
ITIH1 | SNV | Missense_Mutation | c.1702N>A | p.Tyr568Asn | p.Y568N | P19827 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ITIH1 | SNV | Missense_Mutation | rs141962026 | c.1237N>T | p.Arg413Cys | p.R413C | P19827 | protein_coding | tolerated(0.19) | probably_damaging(0.935) | TCGA-NH-A6GA-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | PD |
ITIH1 | SNV | Missense_Mutation | c.1238N>A | p.Arg413His | p.R413H | P19827 | protein_coding | tolerated(0.55) | probably_damaging(0.915) | TCGA-AF-2690-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ITIH1 | SNV | Missense_Mutation | novel | c.768C>A | p.Phe256Leu | p.F256L | P19827 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-AG-3892-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ITIH1 | SNV | Missense_Mutation | rs764272896 | c.840N>A | p.Phe280Leu | p.F280L | P19827 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ITIH1 | SNV | Missense_Mutation | novel | c.2243N>A | p.Pro748His | p.P748H | P19827 | protein_coding | tolerated(0.1) | probably_damaging(0.992) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ITIH1 | SNV | Missense_Mutation | rs775722288 | c.1790N>T | p.Ser597Leu | p.S597L | P19827 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-AG-A02N-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Chemotherapy | folinic | CR |
ITIH1 | SNV | Missense_Mutation | rs367809051 | c.1690N>T | p.Arg564Cys | p.R564C | P19827 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
ITIH1 | SNV | Missense_Mutation | rs144224070 | c.2402N>A | p.Arg801Gln | p.R801Q | P19827 | protein_coding | tolerated(0.68) | benign(0.051) | TCGA-EI-6885-01 | Colorectum | rectum adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatinum+5-fu | PD |
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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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