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Gene: ALMS1 |
Gene summary for ALMS1 |
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Gene information | Species | Human | Gene symbol | ALMS1 | Gene ID | 7840 |
Gene name | ALMS1 centrosome and basal body associated protein | |
Gene Alias | ALSS | |
Cytomap | 2p13.1 | |
Gene Type | protein-coding | GO ID | GO:0000226 | UniProtAcc | Q8TCU4 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
7840 | ALMS1 | LZE2T | Human | Esophagus | ESCC | 1.52e-08 | 5.99e-01 | 0.082 |
7840 | ALMS1 | LZE4T | Human | Esophagus | ESCC | 2.18e-06 | 1.94e-01 | 0.0811 |
7840 | ALMS1 | LZE7T | Human | Esophagus | ESCC | 2.07e-09 | 3.91e-01 | 0.0667 |
7840 | ALMS1 | LZE20T | Human | Esophagus | ESCC | 1.26e-02 | 1.11e-01 | 0.0662 |
7840 | ALMS1 | LZE24T | Human | Esophagus | ESCC | 2.66e-16 | 3.46e-01 | 0.0596 |
7840 | ALMS1 | LZE21T | Human | Esophagus | ESCC | 8.02e-04 | 2.45e-01 | 0.0655 |
7840 | ALMS1 | LZE6T | Human | Esophagus | ESCC | 9.61e-05 | 1.96e-01 | 0.0845 |
7840 | ALMS1 | P1T-E | Human | Esophagus | ESCC | 2.44e-06 | 2.69e-01 | 0.0875 |
7840 | ALMS1 | P2T-E | Human | Esophagus | ESCC | 1.15e-19 | 3.87e-01 | 0.1177 |
7840 | ALMS1 | P4T-E | Human | Esophagus | ESCC | 4.13e-17 | 3.43e-01 | 0.1323 |
7840 | ALMS1 | P5T-E | Human | Esophagus | ESCC | 8.46e-06 | 1.22e-01 | 0.1327 |
7840 | ALMS1 | P8T-E | Human | Esophagus | ESCC | 7.53e-09 | 1.66e-01 | 0.0889 |
7840 | ALMS1 | P10T-E | Human | Esophagus | ESCC | 4.34e-12 | 2.25e-01 | 0.116 |
7840 | ALMS1 | P11T-E | Human | Esophagus | ESCC | 6.74e-09 | 2.86e-01 | 0.1426 |
7840 | ALMS1 | P12T-E | Human | Esophagus | ESCC | 1.07e-12 | 3.25e-01 | 0.1122 |
7840 | ALMS1 | P15T-E | Human | Esophagus | ESCC | 3.34e-06 | 1.72e-01 | 0.1149 |
7840 | ALMS1 | P16T-E | Human | Esophagus | ESCC | 8.19e-10 | 2.12e-01 | 0.1153 |
7840 | ALMS1 | P17T-E | Human | Esophagus | ESCC | 2.68e-03 | 1.82e-01 | 0.1278 |
7840 | ALMS1 | P20T-E | Human | Esophagus | ESCC | 3.32e-24 | 4.80e-01 | 0.1124 |
7840 | ALMS1 | P21T-E | Human | Esophagus | ESCC | 7.33e-10 | 2.22e-01 | 0.1617 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:1902903111 | Esophagus | ESCC | regulation of supramolecular fiber organization | 237/8552 | 383/18723 | 9.06e-11 | 2.75e-09 | 237 |
GO:000701527 | Esophagus | ESCC | actin filament organization | 259/8552 | 442/18723 | 2.37e-08 | 4.50e-07 | 259 |
GO:0032970111 | Esophagus | ESCC | regulation of actin filament-based process | 231/8552 | 397/18723 | 2.91e-07 | 4.20e-06 | 231 |
GO:0032956111 | Esophagus | ESCC | regulation of actin cytoskeleton organization | 210/8552 | 358/18723 | 4.40e-07 | 6.00e-06 | 210 |
GO:011005327 | Esophagus | ESCC | regulation of actin filament organization | 166/8552 | 278/18723 | 1.54e-06 | 1.85e-05 | 166 |
GO:190211514 | Esophagus | ESCC | regulation of organelle assembly | 116/8552 | 186/18723 | 3.15e-06 | 3.53e-05 | 116 |
GO:005101727 | Esophagus | ESCC | actin filament bundle assembly | 100/8552 | 157/18723 | 3.87e-06 | 4.17e-05 | 100 |
GO:00070982 | Esophagus | ESCC | centrosome cycle | 85/8552 | 130/18723 | 4.41e-06 | 4.69e-05 | 85 |
GO:00310233 | Esophagus | ESCC | microtubule organizing center organization | 92/8552 | 143/18723 | 5.04e-06 | 5.31e-05 | 92 |
GO:006157227 | Esophagus | ESCC | actin filament bundle organization | 101/8552 | 161/18723 | 9.22e-06 | 8.82e-05 | 101 |
GO:003003820 | Esophagus | ESCC | contractile actin filament bundle assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:004314920 | Esophagus | ESCC | stress fiber assembly | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:00328864 | Esophagus | ESCC | regulation of microtubule-based process | 134/8552 | 240/18723 | 9.44e-04 | 4.80e-03 | 134 |
GO:003223120 | Esophagus | ESCC | regulation of actin filament bundle assembly | 64/8552 | 105/18723 | 1.15e-03 | 5.70e-03 | 64 |
GO:005149225 | Esophagus | ESCC | regulation of stress fiber assembly | 56/8552 | 91/18723 | 1.66e-03 | 7.68e-03 | 56 |
GO:003103219 | Esophagus | ESCC | actomyosin structure organization | 108/8552 | 196/18723 | 4.86e-03 | 1.88e-02 | 108 |
GO:011002025 | Esophagus | ESCC | regulation of actomyosin structure organization | 59/8552 | 100/18723 | 4.98e-03 | 1.91e-02 | 59 |
GO:01201624 | Esophagus | ESCC | positive regulation of cold-induced thermogenesis | 57/8552 | 97/18723 | 6.43e-03 | 2.35e-02 | 57 |
GO:01061066 | Esophagus | ESCC | cold-induced thermogenesis | 80/8552 | 144/18723 | 1.07e-02 | 3.65e-02 | 80 |
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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 |
ALMS1 | SNV | Missense_Mutation | rs367877017 | c.11204N>T | p.Ser3735Leu | p.S3735L | protein_coding | tolerated(0.08) | possibly_damaging(0.533) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | novel | c.10380N>G | p.Ile3460Met | p.I3460M | protein_coding | deleterious(0) | possibly_damaging(0.875) | TCGA-CM-5864-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | rs373066945 | c.3185A>G | p.Gln1062Arg | p.Q1062R | protein_coding | deleterious(0) | probably_damaging(0.948) | TCGA-D5-6927-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | rs758717223 | c.3631A>G | p.Ile1211Val | p.I1211V | protein_coding | tolerated(0.19) | benign(0.005) | TCGA-DM-A1D0-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | novel | c.11432G>A | p.Ser3811Asn | p.S3811N | protein_coding | deleterious(0.04) | benign(0.17) | TCGA-DM-A1D9-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | novel | c.821N>C | p.Ser274Thr | p.S274T | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-DM-A285-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | novel | c.8524N>T | p.His2842Tyr | p.H2842Y | protein_coding | deleterious(0.01) | possibly_damaging(0.685) | TCGA-DM-A28H-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | PD | |
ALMS1 | SNV | Missense_Mutation | novel | c.9920C>T | p.Ala3307Val | p.A3307V | protein_coding | deleterious(0) | probably_damaging(0.953) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD | |
ALMS1 | SNV | Missense_Mutation | novel | c.4937N>T | p.Ala1646Val | p.A1646V | protein_coding | tolerated(0.12) | benign(0.012) | TCGA-G4-6588-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
ALMS1 | SNV | Missense_Mutation | novel | c.1091N>G | p.Lys364Arg | p.K364R | protein_coding | deleterious(0.01) | benign(0.426) | 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 |
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