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Gene: CACNA1H |
Gene summary for CACNA1H |
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Gene information | Species | Human | Gene symbol | CACNA1H | Gene ID | 8912 |
Gene name | calcium voltage-gated channel subunit alpha1 H | |
Gene Alias | CACNA1HB | |
Cytomap | 16p13.3 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | B3KQH9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8912 | CACNA1H | HCC1_Meng | Human | Liver | HCC | 2.43e-11 | 7.63e-03 | 0.0246 |
8912 | CACNA1H | HCC1 | Human | Liver | HCC | 1.97e-05 | 3.89e-01 | 0.5336 |
8912 | CACNA1H | S014 | Human | Liver | HCC | 3.81e-14 | 8.40e-01 | 0.2254 |
8912 | CACNA1H | S015 | Human | Liver | HCC | 4.20e-15 | 9.15e-01 | 0.2375 |
8912 | CACNA1H | S016 | Human | Liver | HCC | 5.73e-27 | 9.10e-01 | 0.2243 |
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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 |
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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 |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:00082022 | Liver | HCC | steroid metabolic process | 188/7958 | 319/18723 | 1.96e-09 | 5.63e-08 | 188 |
GO:001003822 | Liver | HCC | response to metal ion | 208/7958 | 373/18723 | 1.35e-07 | 2.56e-06 | 208 |
GO:00066942 | Liver | HCC | steroid biosynthetic process | 104/7958 | 173/18723 | 2.13e-06 | 2.91e-05 | 104 |
GO:004218021 | Liver | HCC | cellular ketone metabolic process | 123/7958 | 211/18723 | 2.52e-06 | 3.37e-05 | 123 |
GO:19016172 | Liver | HCC | organic hydroxy compound biosynthetic process | 129/7958 | 237/18723 | 1.32e-04 | 1.08e-03 | 129 |
GO:00461651 | Liver | HCC | alcohol biosynthetic process | 81/7958 | 140/18723 | 1.73e-04 | 1.36e-03 | 81 |
GO:000608112 | Liver | HCC | cellular aldehyde metabolic process | 39/7958 | 60/18723 | 3.61e-04 | 2.50e-03 | 39 |
GO:007124112 | Liver | HCC | cellular response to inorganic substance | 119/7958 | 226/18723 | 1.26e-03 | 6.92e-03 | 119 |
GO:007124812 | Liver | HCC | cellular response to metal ion | 101/7958 | 197/18723 | 7.82e-03 | 3.10e-02 | 101 |
GO:003430812 | Liver | HCC | primary alcohol metabolic process | 55/7958 | 102/18723 | 1.30e-02 | 4.67e-02 | 55 |
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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 |
CACNA1H | SNV | Missense_Mutation | c.5272N>A | p.Leu1758Ile | p.L1758I | O95180 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-CM-5861-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
CACNA1H | SNV | Missense_Mutation | rs752887237 | c.4712G>A | p.Arg1571Gln | p.R1571Q | O95180 | protein_coding | deleterious(0.04) | probably_damaging(0.97) | TCGA-CM-6171-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNA1H | SNV | Missense_Mutation | rs756550215 | c.1315N>T | p.Arg439Cys | p.R439C | O95180 | protein_coding | deleterious(0.01) | possibly_damaging(0.828) | TCGA-CM-6674-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CACNA1H | SNV | Missense_Mutation | c.5375N>A | p.Ser1792Asn | p.S1792N | O95180 | protein_coding | tolerated(0.11) | benign(0.245) | TCGA-D5-5537-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
CACNA1H | SNV | Missense_Mutation | rs149367557 | c.5024G>A | p.Arg1675Gln | p.R1675Q | O95180 | protein_coding | deleterious(0.01) | possibly_damaging(0.546) | TCGA-DM-A28M-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CACNA1H | SNV | Missense_Mutation | rs370725735 | c.4007N>T | p.Thr1336Met | p.T1336M | O95180 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-F4-6808-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CACNA1H | SNV | Missense_Mutation | rs556889010 | c.5410N>A | p.Val1804Met | p.V1804M | O95180 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-G4-6309-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | PD |
CACNA1H | SNV | Missense_Mutation | rs755831332 | c.1099N>A | p.Ala367Thr | p.A367T | O95180 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-G4-6586-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CACNA1H | SNV | Missense_Mutation | rs369630836 | c.718N>A | p.Val240Ile | p.V240I | O95180 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-G4-6625-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CACNA1H | SNV | Missense_Mutation | rs775972605 | c.6770G>A | p.Arg2257Gln | p.R2257Q | O95180 | protein_coding | deleterious_low_confidence(0.03) | benign(0.074) | TCGA-G4-6628-01 | Colorectum | colon adenocarcinoma | Male | >=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 |
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | FLUNARIZINE DIHYDROCHLORIDE | FLUNARIZINE DIHYDROCHLORIDE | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | ELLIPTECINE | ELLIPTECINE | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | SJ000019194 | CHEMBL592106 | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | blocker | 53801058 | MIBEFRADIL | |
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | Mibefradil | MIBEFRADIL | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | blocker | 223366057 | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | NAFTOPIDIL | NAFTOPIDIL | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL1100 | PARAMETHADIONE | |
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | CID 94381 | CHEMBL374632 | ||
8912 | CACNA1H | ION CHANNEL, DRUGGABLE GENOME | blocker | CHEMBL797 | PHENSUXIMIDE |
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