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Gene: TTN |
Gene summary for TTN |
Gene summary. |
Gene information | Species | Human | Gene symbol | TTN | Gene ID | 7273 |
Gene name | titin | |
Gene Alias | CMD1G | |
Cytomap | 2q31.2 | |
Gene Type | protein-coding | GO ID | GO:0000070 | UniProtAcc | Q8WZ42 |
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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 |
7273 | TTN | HCC1_Meng | Human | Liver | HCC | 1.93e-02 | -1.44e-01 | 0.0246 |
7273 | TTN | HCC5 | Human | Liver | HCC | 6.34e-15 | 2.72e+00 | 0.4932 |
7273 | TTN | S028 | Human | Liver | HCC | 7.08e-10 | 6.89e-01 | 0.2503 |
7273 | TTN | S029 | Human | Liver | HCC | 1.04e-02 | 3.61e-01 | 0.2581 |
7273 | TTN | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 2.80e-10 | 5.59e-01 | -0.2116 |
7273 | TTN | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 1.21e-06 | 7.26e-01 | -0.1941 |
7273 | TTN | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 8.26e-07 | 6.77e-01 | -0.2107 |
7273 | TTN | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.27e-10 | 6.99e-01 | -0.2119 |
7273 | TTN | HTA12-18-3 | Human | Pancreas | PDAC | 1.07e-02 | 5.78e-01 | 0.0716 |
7273 | TTN | HTA12-25-1 | Human | Pancreas | PDAC | 2.02e-02 | 4.06e-01 | 0.313 |
7273 | TTN | HTA12-26-1 | Human | Pancreas | PDAC | 1.84e-07 | 4.56e-01 | 0.3728 |
7273 | TTN | HTA12-29-1 | Human | Pancreas | PDAC | 3.65e-29 | 6.66e-01 | 0.3722 |
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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:20012339 | Breast | Precancer | regulation of apoptotic signaling pathway | 65/1080 | 356/18723 | 7.70e-17 | 3.17e-14 | 65 |
GO:20012349 | Breast | Precancer | negative regulation of apoptotic signaling pathway | 39/1080 | 224/18723 | 5.35e-10 | 4.77e-08 | 39 |
GO:00432549 | Breast | Precancer | regulation of protein-containing complex assembly | 50/1080 | 428/18723 | 1.63e-06 | 5.97e-05 | 50 |
GO:00313349 | Breast | Precancer | positive regulation of protein-containing complex assembly | 33/1080 | 237/18723 | 2.39e-06 | 8.21e-05 | 33 |
GO:20012369 | Breast | Precancer | regulation of extrinsic apoptotic signaling pathway | 24/1080 | 151/18723 | 5.78e-06 | 1.70e-04 | 24 |
GO:00971919 | Breast | Precancer | extrinsic apoptotic signaling pathway | 30/1080 | 219/18723 | 9.42e-06 | 2.50e-04 | 30 |
GO:19029059 | Breast | Precancer | positive regulation of supramolecular fiber organization | 28/1080 | 209/18723 | 2.79e-05 | 6.28e-04 | 28 |
GO:19029039 | Breast | Precancer | regulation of supramolecular fiber organization | 42/1080 | 383/18723 | 4.92e-05 | 1.04e-03 | 42 |
GO:00329709 | Breast | Precancer | regulation of actin filament-based process | 42/1080 | 397/18723 | 1.11e-04 | 2.01e-03 | 42 |
GO:00514959 | Breast | Precancer | positive regulation of cytoskeleton organization | 28/1080 | 226/18723 | 1.13e-04 | 2.04e-03 | 28 |
GO:20012379 | Breast | Precancer | negative regulation of extrinsic apoptotic signaling pathway | 16/1080 | 97/18723 | 1.29e-04 | 2.24e-03 | 16 |
GO:00004226 | Breast | Precancer | autophagy of mitochondrion | 14/1080 | 81/18723 | 2.01e-04 | 3.16e-03 | 14 |
GO:00617266 | Breast | Precancer | mitochondrion disassembly | 14/1080 | 81/18723 | 2.01e-04 | 3.16e-03 | 14 |
GO:00070159 | Breast | Precancer | actin filament organization | 44/1080 | 442/18723 | 3.02e-04 | 4.35e-03 | 44 |
GO:00224119 | Breast | Precancer | cellular component disassembly | 44/1080 | 443/18723 | 3.17e-04 | 4.51e-03 | 44 |
GO:00160497 | Breast | Precancer | cell growth | 46/1080 | 482/18723 | 5.63e-04 | 7.16e-03 | 46 |
GO:00108217 | Breast | Precancer | regulation of mitochondrion organization | 19/1080 | 144/18723 | 6.26e-04 | 7.78e-03 | 19 |
GO:00329569 | Breast | Precancer | regulation of actin cytoskeleton organization | 36/1080 | 358/18723 | 8.56e-04 | 9.88e-03 | 36 |
GO:00068986 | Breast | Precancer | receptor-mediated endocytosis | 27/1080 | 244/18723 | 9.01e-04 | 1.03e-02 | 27 |
GO:00322739 | Breast | Precancer | positive regulation of protein polymerization | 18/1080 | 138/18723 | 9.85e-04 | 1.11e-02 | 18 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa054142 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054102 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
hsa054143 | Lung | AIS | Dilated cardiomyopathy | 22/961 | 96/8465 | 9.02e-04 | 7.11e-03 | 4.55e-03 | 22 |
hsa054103 | Lung | AIS | Hypertrophic cardiomyopathy | 20/961 | 90/8465 | 2.25e-03 | 1.37e-02 | 8.80e-03 | 20 |
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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 |
TTN | SNV | Missense_Mutation | rs143659933 | c.56263N>T | p.Arg18755Cys | p.R18755C | protein_coding | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
TTN | SNV | Missense_Mutation | c.16981N>A | p.Ala5661Thr | p.A5661T | protein_coding | TCGA-A6-6653-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||||
TTN | SNV | Missense_Mutation | rs367993101 | c.93266N>A | p.Arg31089His | p.R31089H | protein_coding | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
TTN | SNV | Missense_Mutation | c.29852N>C | p.Ile9951Thr | p.I9951T | protein_coding | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||||
TTN | SNV | Missense_Mutation | rs144587343 | c.25937N>A | p.Arg8646His | p.R8646H | protein_coding | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |||
TTN | SNV | Missense_Mutation | rs754151944 | c.95558N>A | p.Arg31853His | p.R31853H | protein_coding | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |||
TTN | SNV | Missense_Mutation | rs754692422 | c.15832N>A | p.Ala5278Thr | p.A5278T | protein_coding | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD | |||
TTN | SNV | Missense_Mutation | rs371516793 | c.84554N>A | p.Arg28185Gln | p.R28185Q | protein_coding | TCGA-A6-A565-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unspecific | 5FU | PD | |||
TTN | SNV | Missense_Mutation | c.4909G>A | p.Gly1637Ser | p.G1637S | protein_coding | TCGA-A6-A566-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | oxaliplatin | PD | ||||
TTN | SNV | Missense_Mutation | c.7175G>T | p.Gly2392Val | p.G2392V | protein_coding | TCGA-A6-A567-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | 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 |
7273 | TTN | DRUGGABLE GENOME, TYROSINE KINASE, SERINE THREONINE KINASE, KINASE, ENZYME | PROTEASE INHIBITORS | 9648223 |
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