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Gene: SHANK2 |
Gene summary for SHANK2 |
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Gene information | Species | Human | Gene symbol | SHANK2 | Gene ID | 22941 |
Gene name | SH3 and multiple ankyrin repeat domains 2 | |
Gene Alias | AUTS17 | |
Cytomap | 11q13.3-q13.4 | |
Gene Type | protein-coding | GO ID | GO:0003008 | UniProtAcc | Q9UPX8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
22941 | SHANK2 | HTA11_6818_2000001011 | Human | Colorectum | AD | 4.37e-02 | 4.85e-01 | 0.0112 |
22941 | SHANK2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 9.18e-04 | 6.04e-01 | 0.0588 |
22941 | SHANK2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 7.51e-16 | -5.09e-01 | 0.294 |
22941 | SHANK2 | A001-C-207 | Human | Colorectum | FAP | 1.80e-03 | -1.39e-01 | 0.1278 |
22941 | SHANK2 | A015-C-203 | Human | Colorectum | FAP | 1.96e-33 | -3.84e-01 | -0.1294 |
22941 | SHANK2 | A015-C-204 | Human | Colorectum | FAP | 7.67e-05 | -2.47e-01 | -0.0228 |
22941 | SHANK2 | A014-C-040 | Human | Colorectum | FAP | 3.61e-04 | -9.17e-02 | -0.1184 |
22941 | SHANK2 | A002-C-201 | Human | Colorectum | FAP | 1.47e-12 | -1.98e-01 | 0.0324 |
22941 | SHANK2 | A002-C-203 | Human | Colorectum | FAP | 1.11e-04 | 1.54e-02 | 0.2786 |
22941 | SHANK2 | A001-C-119 | Human | Colorectum | FAP | 3.98e-09 | -3.80e-01 | -0.1557 |
22941 | SHANK2 | A001-C-108 | Human | Colorectum | FAP | 3.73e-21 | -1.84e-01 | -0.0272 |
22941 | SHANK2 | A002-C-205 | Human | Colorectum | FAP | 3.09e-24 | -2.56e-01 | -0.1236 |
22941 | SHANK2 | A001-C-104 | Human | Colorectum | FAP | 2.67e-04 | -6.23e-02 | 0.0184 |
22941 | SHANK2 | A015-C-006 | Human | Colorectum | FAP | 4.96e-19 | -2.73e-01 | -0.0994 |
22941 | SHANK2 | A015-C-106 | Human | Colorectum | FAP | 3.20e-14 | -1.81e-01 | -0.0511 |
22941 | SHANK2 | A002-C-114 | Human | Colorectum | FAP | 2.32e-22 | -3.80e-01 | -0.1561 |
22941 | SHANK2 | A015-C-104 | Human | Colorectum | FAP | 9.30e-40 | -5.12e-01 | -0.1899 |
22941 | SHANK2 | A001-C-014 | Human | Colorectum | FAP | 8.13e-21 | -3.26e-01 | 0.0135 |
22941 | SHANK2 | A002-C-016 | Human | Colorectum | FAP | 1.37e-26 | -3.79e-01 | 0.0521 |
22941 | SHANK2 | A015-C-002 | Human | Colorectum | FAP | 3.76e-14 | -3.86e-01 | -0.0763 |
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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:0034329 | Colorectum | AD | cell junction assembly | 136/3918 | 420/18723 | 2.02e-08 | 1.15e-06 | 136 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:00343292 | Colorectum | MSS | cell junction assembly | 120/3467 | 420/18723 | 2.51e-07 | 1.07e-05 | 120 |
GO:00508082 | Colorectum | MSS | synapse organization | 101/3467 | 426/18723 | 3.96e-03 | 2.89e-02 | 101 |
GO:00343293 | Colorectum | FAP | cell junction assembly | 105/2622 | 420/18723 | 1.03e-09 | 2.18e-07 | 105 |
GO:00508083 | Colorectum | FAP | synapse organization | 91/2622 | 426/18723 | 1.90e-05 | 4.74e-04 | 91 |
GO:00343294 | Colorectum | CRC | cell junction assembly | 83/2078 | 420/18723 | 1.08e-07 | 1.29e-05 | 83 |
GO:00508084 | Colorectum | CRC | synapse organization | 71/2078 | 426/18723 | 3.02e-04 | 4.76e-03 | 71 |
GO:0050804 | Colorectum | CRC | modulation of chemical synaptic transmission | 70/2078 | 439/18723 | 1.15e-03 | 1.33e-02 | 70 |
GO:0099177 | Colorectum | CRC | regulation of trans-synaptic signaling | 70/2078 | 440/18723 | 1.23e-03 | 1.38e-02 | 70 |
GO:00343299 | Endometrium | AEH | cell junction assembly | 78/2100 | 420/18723 | 4.80e-06 | 1.24e-04 | 78 |
GO:00508086 | Endometrium | AEH | synapse organization | 67/2100 | 426/18723 | 2.67e-03 | 1.94e-02 | 67 |
GO:003432914 | Endometrium | EEC | cell junction assembly | 79/2168 | 420/18723 | 8.37e-06 | 1.85e-04 | 79 |
GO:005080812 | Endometrium | EEC | synapse organization | 68/2168 | 426/18723 | 3.73e-03 | 2.49e-02 | 68 |
GO:003432918 | Esophagus | ESCC | cell junction assembly | 227/8552 | 420/18723 | 3.06e-04 | 1.83e-03 | 227 |
GO:00353297 | Esophagus | ESCC | hippo signaling | 26/8552 | 40/18723 | 1.08e-02 | 3.66e-02 | 26 |
GO:00343296 | Liver | NAFLD | cell junction assembly | 66/1882 | 420/18723 | 1.64e-04 | 3.00e-03 | 66 |
GO:0035329 | Liver | NAFLD | hippo signaling | 10/1882 | 40/18723 | 5.20e-03 | 4.05e-02 | 10 |
GO:0035331 | Liver | NAFLD | negative regulation of hippo signaling | 5/1882 | 13/18723 | 6.58e-03 | 4.69e-02 | 5 |
GO:00353311 | Liver | Cirrhotic | negative regulation of hippo signaling | 8/4634 | 13/18723 | 5.27e-03 | 2.70e-02 | 8 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04724 | Colorectum | CRC | Glutamatergic synapse | 24/1091 | 115/8465 | 1.07e-02 | 4.74e-02 | 3.21e-02 | 24 |
hsa047241 | Colorectum | CRC | Glutamatergic synapse | 24/1091 | 115/8465 | 1.07e-02 | 4.74e-02 | 3.21e-02 | 24 |
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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 |
SHANK2 | SNV | Missense_Mutation | c.2986N>T | p.Pro996Ser | p.P996S | protein_coding | tolerated(0.12) | probably_damaging(0.999) | TCGA-55-8205-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD | ||
SHANK2 | SNV | Missense_Mutation | novel | c.1580N>A | p.Gly527Glu | p.G527E | protein_coding | tolerated(0.36) | probably_damaging(1) | TCGA-55-8506-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
SHANK2 | SNV | Missense_Mutation | rs781966690 | c.1226G>A | p.Ser409Asn | p.S409N | protein_coding | tolerated(0.73) | benign(0.025) | TCGA-69-A59K-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
SHANK2 | SNV | Missense_Mutation | novel | c.2953G>C | p.Asp985His | p.D985H | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-75-5147-01 | Lung | lung adenocarcinoma | Female | Unknown | I/II | Unknown | Unknown | SD | |
SHANK2 | SNV | Missense_Mutation | c.787N>T | p.Asp263Tyr | p.D263Y | protein_coding | tolerated(0.11) | possibly_damaging(0.847) | TCGA-86-8358-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
SHANK2 | SNV | Missense_Mutation | c.1374N>C | p.Lys458Asn | p.K458N | protein_coding | deleterious(0.01) | possibly_damaging(0.894) | TCGA-86-A4JF-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | unknown | PD | ||
SHANK2 | SNV | Missense_Mutation | c.106N>C | p.Glu36Gln | p.E36Q | protein_coding | tolerated(0.09) | possibly_damaging(0.699) | TCGA-91-6828-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
SHANK2 | SNV | Missense_Mutation | novel | c.647G>T | p.Arg216Leu | p.R216L | protein_coding | deleterious(0) | possibly_damaging(0.629) | TCGA-91-8497-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
SHANK2 | SNV | Missense_Mutation | novel | c.2971C>T | p.Pro991Ser | p.P991S | protein_coding | tolerated(0.21) | possibly_damaging(0.575) | TCGA-99-8028-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
SHANK2 | SNV | Missense_Mutation | rs782171524 | c.3374C>T | p.Ser1125Leu | p.S1125L | protein_coding | tolerated(0.16) | probably_damaging(0.999) | TCGA-18-3409-01 | Lung | lung 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 |
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