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Gene: SACS |
Gene summary for SACS |
Gene summary. |
Gene information | Species | Human | Gene symbol | SACS | Gene ID | 26278 |
Gene name | sacsin molecular chaperone | |
Gene Alias | ARSACS | |
Cytomap | 13q12.12 | |
Gene Type | protein-coding | GO ID | GO:0006457 | UniProtAcc | Q9NZJ4 |
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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 |
26278 | SACS | HCC1_Meng | Human | Liver | HCC | 7.47e-29 | 1.10e-01 | 0.0246 |
26278 | SACS | HCC2_Meng | Human | Liver | HCC | 4.33e-03 | 4.21e-02 | 0.0107 |
26278 | SACS | HCC2 | Human | Liver | HCC | 6.71e-09 | 3.20e+00 | 0.5341 |
26278 | SACS | S014 | Human | Liver | HCC | 1.00e-11 | 3.16e-01 | 0.2254 |
26278 | SACS | S015 | Human | Liver | HCC | 3.44e-11 | 3.64e-01 | 0.2375 |
26278 | SACS | S016 | Human | Liver | HCC | 1.03e-10 | 3.19e-01 | 0.2243 |
26278 | SACS | S027 | Human | Liver | HCC | 7.22e-04 | 2.69e-01 | 0.2446 |
26278 | SACS | S028 | Human | Liver | HCC | 1.80e-19 | 5.96e-01 | 0.2503 |
26278 | SACS | S029 | Human | Liver | HCC | 8.63e-16 | 5.78e-01 | 0.2581 |
26278 | SACS | ATC09 | Human | Thyroid | ATC | 1.87e-07 | 2.07e-01 | 0.2871 |
26278 | SACS | ATC11 | Human | Thyroid | ATC | 6.82e-13 | 6.83e-01 | 0.3386 |
26278 | SACS | ATC12 | Human | Thyroid | ATC | 3.68e-03 | 9.04e-02 | 0.34 |
26278 | SACS | ATC13 | Human | Thyroid | ATC | 1.53e-48 | 8.17e-01 | 0.34 |
26278 | SACS | ATC1 | Human | Thyroid | ATC | 8.64e-07 | 2.46e-01 | 0.2878 |
26278 | SACS | ATC2 | Human | Thyroid | ATC | 1.04e-12 | 1.18e+00 | 0.34 |
26278 | SACS | ATC3 | Human | Thyroid | ATC | 8.75e-16 | 7.15e-01 | 0.338 |
26278 | SACS | ATC4 | Human | Thyroid | ATC | 5.04e-05 | 1.25e-01 | 0.34 |
26278 | SACS | ATC5 | Human | Thyroid | ATC | 1.40e-46 | 9.06e-01 | 0.34 |
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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:000645712 | Liver | HCC | protein folding | 160/7958 | 212/18723 | 1.07e-22 | 1.88e-20 | 160 |
GO:007084111 | Liver | HCC | inclusion body assembly | 20/7958 | 24/18723 | 4.92e-05 | 4.70e-04 | 20 |
GO:009008311 | Liver | HCC | regulation of inclusion body assembly | 14/7958 | 17/18723 | 9.39e-04 | 5.47e-03 | 14 |
GO:009008411 | Liver | HCC | negative regulation of inclusion body assembly | 9/7958 | 11/18723 | 9.51e-03 | 3.60e-02 | 9 |
GO:000645733 | Thyroid | ATC | protein folding | 140/6293 | 212/18723 | 3.46e-22 | 8.09e-20 | 140 |
GO:009008324 | Thyroid | ATC | regulation of inclusion body assembly | 12/6293 | 17/18723 | 2.02e-03 | 9.60e-03 | 12 |
GO:0070841111 | Thyroid | ATC | inclusion body assembly | 14/6293 | 24/18723 | 1.12e-02 | 4.00e-02 | 14 |
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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 |
SACS | SNV | Missense_Mutation | novel | c.3875T>G | p.Ile1292Ser | p.I1292S | Q9NZJ4 | protein_coding | tolerated(0.25) | benign(0.096) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | novel | c.3470T>C | p.Val1157Ala | p.V1157A | Q9NZJ4 | protein_coding | deleterious(0.03) | benign(0) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | c.377C>T | p.Ala126Val | p.A126V | Q9NZJ4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
SACS | SNV | Missense_Mutation | novel | c.9556G>T | p.Asp3186Tyr | p.D3186Y | Q9NZJ4 | protein_coding | deleterious(0.01) | possibly_damaging(0.656) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | rs767982708 | c.8717G>A | p.Arg2906Gln | p.R2906Q | Q9NZJ4 | protein_coding | deleterious(0.02) | probably_damaging(0.998) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | rs762896797 | c.7150G>A | p.Glu2384Lys | p.E2384K | Q9NZJ4 | protein_coding | tolerated(0.05) | benign(0.103) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | novel | c.6913G>T | p.Asp2305Tyr | p.D2305Y | Q9NZJ4 | protein_coding | deleterious(0.02) | benign(0.031) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | novel | c.6612G>T | p.Lys2204Asn | p.K2204N | Q9NZJ4 | protein_coding | tolerated(0.21) | benign(0) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | novel | c.4946G>T | p.Arg1649Ile | p.R1649I | Q9NZJ4 | protein_coding | deleterious(0) | possibly_damaging(0.802) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SACS | SNV | Missense_Mutation | novel | c.11677N>A | p.Val3893Ile | p.V3893I | Q9NZJ4 | protein_coding | tolerated(0.21) | benign(0.121) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
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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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