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Gene: PACSIN2 |
Gene summary for PACSIN2 |
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Gene information | Species | Human | Gene symbol | PACSIN2 | Gene ID | 11252 |
Gene name | protein kinase C and casein kinase substrate in neurons 2 | |
Gene Alias | SDPII | |
Cytomap | 22q13.2 | |
Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | Q9UNF0 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
11252 | PACSIN2 | CCI_1 | Human | Cervix | CC | 9.75e-05 | 5.72e-01 | 0.528 |
11252 | PACSIN2 | CCI_3 | Human | Cervix | CC | 2.01e-14 | 9.56e-01 | 0.516 |
11252 | PACSIN2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 7.34e-14 | -4.71e-01 | 0.0155 |
11252 | PACSIN2 | HTA11_347_2000001011 | Human | Colorectum | AD | 2.17e-10 | 5.93e-01 | -0.1954 |
11252 | PACSIN2 | HTA11_411_2000001011 | Human | Colorectum | SER | 4.18e-05 | 9.49e-01 | -0.2602 |
11252 | PACSIN2 | HTA11_696_2000001011 | Human | Colorectum | AD | 5.25e-03 | 5.60e-01 | -0.1464 |
11252 | PACSIN2 | HTA11_866_3004761011 | Human | Colorectum | AD | 4.10e-04 | -3.47e-01 | 0.096 |
11252 | PACSIN2 | HTA11_8622_2000001021 | Human | Colorectum | SER | 2.37e-02 | -2.89e-01 | 0.0528 |
11252 | PACSIN2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 6.48e-08 | -3.45e-01 | 0.0674 |
11252 | PACSIN2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 4.08e-04 | -4.68e-01 | 0.0588 |
11252 | PACSIN2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 5.78e-07 | -3.28e-01 | 0.294 |
11252 | PACSIN2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 3.75e-02 | -4.18e-01 | 0.2585 |
11252 | PACSIN2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 2.83e-08 | -3.14e-01 | 0.3005 |
11252 | PACSIN2 | F007 | Human | Colorectum | FAP | 1.91e-04 | -2.51e-01 | 0.1176 |
11252 | PACSIN2 | A002-C-010 | Human | Colorectum | FAP | 1.18e-07 | -3.45e-01 | 0.242 |
11252 | PACSIN2 | A001-C-207 | Human | Colorectum | FAP | 3.77e-09 | -3.16e-01 | 0.1278 |
11252 | PACSIN2 | A015-C-203 | Human | Colorectum | FAP | 2.17e-41 | -5.75e-01 | -0.1294 |
11252 | PACSIN2 | A015-C-204 | Human | Colorectum | FAP | 1.91e-09 | -4.14e-01 | -0.0228 |
11252 | PACSIN2 | A014-C-040 | Human | Colorectum | FAP | 5.08e-07 | -5.52e-01 | -0.1184 |
11252 | PACSIN2 | A002-C-201 | Human | Colorectum | FAP | 3.10e-22 | -5.59e-01 | 0.0324 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
GO:00315795 | Cervix | CC | membrane raft organization | 9/2311 | 25/18723 | 2.09e-03 | 1.52e-02 | 9 |
GO:00017652 | Cervix | CC | membrane raft assembly | 5/2311 | 11/18723 | 6.92e-03 | 3.74e-02 | 5 |
GO:00070092 | Cervix | CC | plasma membrane organization | 28/2311 | 142/18723 | 7.85e-03 | 4.14e-02 | 28 |
GO:0030100 | Colorectum | AD | regulation of endocytosis | 67/3918 | 211/18723 | 1.42e-04 | 2.01e-03 | 67 |
GO:0071709 | Colorectum | AD | membrane assembly | 22/3918 | 50/18723 | 2.00e-04 | 2.66e-03 | 22 |
GO:0044091 | Colorectum | AD | membrane biogenesis | 22/3918 | 55/18723 | 9.88e-04 | 9.28e-03 | 22 |
GO:0036010 | Colorectum | AD | protein localization to endosome | 12/3918 | 24/18723 | 1.48e-03 | 1.25e-02 | 12 |
GO:00717091 | Colorectum | SER | membrane assembly | 20/2897 | 50/18723 | 2.45e-05 | 6.84e-04 | 20 |
GO:00440911 | Colorectum | SER | membrane biogenesis | 20/2897 | 55/18723 | 1.21e-04 | 2.49e-03 | 20 |
GO:0051051 | Colorectum | SER | negative regulation of transport | 98/2897 | 470/18723 | 1.01e-03 | 1.19e-02 | 98 |
GO:0007009 | Colorectum | SER | plasma membrane organization | 36/2897 | 142/18723 | 1.50e-03 | 1.62e-02 | 36 |
GO:0031579 | Colorectum | SER | membrane raft organization | 10/2897 | 25/18723 | 2.70e-03 | 2.44e-02 | 10 |
GO:00301001 | Colorectum | SER | regulation of endocytosis | 48/2897 | 211/18723 | 3.29e-03 | 2.82e-02 | 48 |
GO:00360101 | Colorectum | SER | protein localization to endosome | 9/2897 | 24/18723 | 7.19e-03 | 4.99e-02 | 9 |
GO:00301002 | Colorectum | MSS | regulation of endocytosis | 63/3467 | 211/18723 | 4.05e-05 | 7.66e-04 | 63 |
GO:00360102 | Colorectum | MSS | protein localization to endosome | 12/3467 | 24/18723 | 4.68e-04 | 5.50e-03 | 12 |
GO:00717092 | Colorectum | MSS | membrane assembly | 19/3467 | 50/18723 | 9.61e-04 | 9.67e-03 | 19 |
GO:00440912 | Colorectum | MSS | membrane biogenesis | 19/3467 | 55/18723 | 3.47e-03 | 2.59e-02 | 19 |
GO:00510511 | Colorectum | MSS | negative regulation of transport | 110/3467 | 470/18723 | 4.20e-03 | 3.04e-02 | 110 |
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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 |
PACSIN2 | SNV | Missense_Mutation | novel | c.1292N>C | p.Val431Ala | p.V431A | Q9UNF0 | protein_coding | deleterious(0.02) | probably_damaging(0.931) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PACSIN2 | SNV | Missense_Mutation | novel | c.101N>A | p.Gly34Asp | p.G34D | Q9UNF0 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | novel | c.888N>T | p.Met296Ile | p.M296I | Q9UNF0 | protein_coding | deleterious(0) | benign(0.196) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | novel | c.1403N>A | p.Arg468His | p.R468H | Q9UNF0 | protein_coding | deleterious(0) | probably_damaging(0.922) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
PACSIN2 | insertion | Frame_Shift_Ins | novel | c.1089_1090insA | p.Phe364IlefsTer4 | p.F364Ifs*4 | Q9UNF0 | protein_coding | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
PACSIN2 | SNV | Missense_Mutation | novel | c.319N>A | p.Asp107Asn | p.D107N | Q9UNF0 | protein_coding | deleterious(0.02) | benign(0.018) | TCGA-78-7539-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
PACSIN2 | SNV | Missense_Mutation | novel | c.56N>T | p.Trp19Leu | p.W19L | Q9UNF0 | protein_coding | deleterious(0.01) | probably_damaging(0.946) | TCGA-78-7540-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PACSIN2 | SNV | Missense_Mutation | c.191N>A | p.Arg64Gln | p.R64Q | Q9UNF0 | protein_coding | deleterious(0) | benign(0.077) | TCGA-86-8055-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
PACSIN2 | SNV | Missense_Mutation | c.29N>A | p.Gly10Glu | p.G10E | Q9UNF0 | protein_coding | tolerated(0.08) | benign(0.287) | TCGA-22-4595-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | alimta | PD | |
PACSIN2 | SNV | Missense_Mutation | novel | c.1204G>C | p.Glu402Gln | p.E402Q | Q9UNF0 | protein_coding | tolerated(0.06) | possibly_damaging(0.881) | TCGA-CV-6961-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | 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 |
11252 | PACSIN2 | KINASE, TRANSPORTER | methotrexate | METHOTREXATE | 22846425 | |
11252 | PACSIN2 | KINASE, TRANSPORTER | mercaptopurine | MERCAPTOPURINE | 22846425,27452984 |
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