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Gene: SCFD2 |
Gene summary for SCFD2 |
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Gene information | Species | Human | Gene symbol | SCFD2 | Gene ID | 152579 |
Gene name | sec1 family domain containing 2 | |
Gene Alias | STXBP1L1 | |
Cytomap | 4q12 | |
Gene Type | protein-coding | GO ID | GO:0006810 | UniProtAcc | Q8WU76 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
152579 | SCFD2 | CCI_1 | Human | Cervix | CC | 1.71e-09 | 7.42e-01 | 0.528 |
152579 | SCFD2 | CCI_3 | Human | Cervix | CC | 2.61e-05 | 5.12e-01 | 0.516 |
152579 | SCFD2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 4.48e-14 | -5.93e-01 | 0.0155 |
152579 | SCFD2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.48e-02 | -4.87e-01 | -0.1808 |
152579 | SCFD2 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.28e-02 | -7.19e-01 | 0.0216 |
152579 | SCFD2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.55e-04 | -5.34e-01 | -0.1207 |
152579 | SCFD2 | HTA11_696_2000001011 | Human | Colorectum | AD | 4.26e-10 | -4.73e-01 | -0.1464 |
152579 | SCFD2 | HTA11_866_2000001011 | Human | Colorectum | AD | 7.03e-10 | -4.60e-01 | -0.1001 |
152579 | SCFD2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 3.09e-04 | -7.85e-01 | -0.2061 |
152579 | SCFD2 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.29e-11 | -5.85e-01 | 0.096 |
152579 | SCFD2 | HTA11_8622_2000001021 | Human | Colorectum | SER | 1.82e-03 | -7.12e-01 | 0.0528 |
152579 | SCFD2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 7.37e-07 | -5.71e-01 | 0.0338 |
152579 | SCFD2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 3.12e-07 | -4.53e-01 | 0.0674 |
152579 | SCFD2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.36e-17 | -4.76e-01 | 0.294 |
152579 | SCFD2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.84e-04 | -6.91e-01 | 0.2585 |
152579 | SCFD2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 6.23e-12 | -5.53e-01 | 0.3005 |
152579 | SCFD2 | A001-C-207 | Human | Colorectum | FAP | 1.33e-03 | -3.55e-01 | 0.1278 |
152579 | SCFD2 | A015-C-203 | Human | Colorectum | FAP | 3.91e-31 | -6.18e-01 | -0.1294 |
152579 | SCFD2 | A015-C-204 | Human | Colorectum | FAP | 3.41e-08 | -4.52e-01 | -0.0228 |
152579 | SCFD2 | A014-C-040 | Human | Colorectum | FAP | 4.39e-06 | -5.80e-01 | -0.1184 |
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∗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:004827811 | Thyroid | ATC | vesicle docking | 29/6293 | 59/18723 | 9.60e-03 | 3.52e-02 | 29 |
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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 |
SCFD2 | SNV | Missense_Mutation | c.767C>G | p.Ala256Gly | p.A256G | Q8WU76 | protein_coding | deleterious(0) | possibly_damaging(0.609) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD | |
SCFD2 | SNV | Missense_Mutation | c.771N>C | p.Lys257Asn | p.K257N | Q8WU76 | protein_coding | deleterious(0) | probably_damaging(0.963) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
SCFD2 | SNV | Missense_Mutation | c.877N>T | p.Ile293Phe | p.I293F | Q8WU76 | protein_coding | deleterious(0) | benign(0.034) | TCGA-AR-A0TZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | Doxorubicin | PD | |
SCFD2 | SNV | Missense_Mutation | c.1861N>T | p.Ser621Cys | p.S621C | Q8WU76 | protein_coding | deleterious(0.01) | possibly_damaging(0.873) | TCGA-E2-A158-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | arimidex | SD | |
SCFD2 | insertion | Frame_Shift_Ins | novel | c.179_180insT | p.Glu60AspfsTer57 | p.E60Dfs*57 | Q8WU76 | protein_coding | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
SCFD2 | insertion | Frame_Shift_Ins | novel | c.178_179insGAAGGAAAACTACTGCACAAGAAAACATAAA | p.Glu60GlyfsTer67 | p.E60Gfs*67 | Q8WU76 | protein_coding | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
SCFD2 | insertion | In_Frame_Ins | novel | c.293_294insGTGCACCTGGGAAATTTTATTTTTAGAAATTTACGAATG | p.Phe98delinsLeuCysThrTrpGluIleLeuPheLeuGluIleTyrGluCys | p.F98delinsLCTWEILFLEIYEC | Q8WU76 | protein_coding | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD | ||
SCFD2 | insertion | Nonsense_Mutation | novel | c.582_583insCCTAGCCACTTCCAAGTCCAGGGAGAATAATC | p.Arg195ProfsTer10 | p.R195Pfs*10 | Q8WU76 | protein_coding | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD | ||
SCFD2 | insertion | Nonsense_Mutation | novel | c.1781_1782insGTATACTGAGAAACAAAGTACTGTTGTTTGATACAGACA | p.Ile594delinsMetTyrThrGluLysGlnSerThrValValTerTyrArgHis | p.I594delinsMYTEKQSTVV*YRH | Q8WU76 | protein_coding | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | ||
SCFD2 | SNV | Missense_Mutation | novel | c.955N>C | p.Thr319Pro | p.T319P | Q8WU76 | protein_coding | tolerated(0.28) | benign(0) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
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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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