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Gene: GPHN |
Gene summary for GPHN |
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Gene information | Species | Human | Gene symbol | GPHN | Gene ID | 10243 |
Gene name | gephyrin | |
Gene Alias | GEPH | |
Cytomap | 14q23.3-q24.1 | |
Gene Type | protein-coding | GO ID | GO:0001941 | UniProtAcc | Q9NQX3 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10243 | GPHN | CCI_1 | Human | Cervix | CC | 4.33e-28 | 1.57e+00 | 0.528 |
10243 | GPHN | CCI_2 | Human | Cervix | CC | 9.44e-19 | 1.33e+00 | 0.5249 |
10243 | GPHN | CCI_3 | Human | Cervix | CC | 1.37e-33 | 1.22e+00 | 0.516 |
10243 | GPHN | CCII_1 | Human | Cervix | CC | 7.19e-06 | 2.22e-01 | 0.3249 |
10243 | GPHN | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.03e-05 | -5.86e-01 | -0.1808 |
10243 | GPHN | HTA11_2951_2000001011 | Human | Colorectum | AD | 2.56e-05 | -7.78e-01 | 0.0216 |
10243 | GPHN | HTA11_1938_2000001011 | Human | Colorectum | AD | 6.63e-03 | -4.53e-01 | -0.0811 |
10243 | GPHN | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.89e-03 | -4.99e-01 | -0.1207 |
10243 | GPHN | HTA11_83_2000001011 | Human | Colorectum | SER | 4.26e-06 | -5.32e-01 | -0.1526 |
10243 | GPHN | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.36e-07 | -9.53e-01 | -0.2061 |
10243 | GPHN | HTA11_5216_2000001011 | Human | Colorectum | SER | 4.07e-08 | -5.38e-01 | -0.1462 |
10243 | GPHN | HTA11_7862_2000001011 | Human | Colorectum | AD | 1.44e-10 | -6.77e-01 | -0.0179 |
10243 | GPHN | HTA11_9408_2000001011 | Human | Colorectum | AD | 6.45e-10 | -1.03e+00 | 0.0451 |
10243 | GPHN | HTA11_10711_2000001011 | Human | Colorectum | AD | 3.33e-03 | -4.61e-01 | 0.0338 |
10243 | GPHN | HTA11_11156_2000001011 | Human | Colorectum | AD | 3.13e-08 | -9.54e-01 | 0.0397 |
10243 | GPHN | HTA11_6818_2000001021 | Human | Colorectum | AD | 3.26e-02 | -5.35e-01 | 0.0588 |
10243 | GPHN | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.13e-31 | 1.59e+00 | 0.294 |
10243 | GPHN | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 6.46e-36 | 1.45e+00 | 0.3487 |
10243 | GPHN | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.70e-16 | 1.55e+00 | 0.281 |
10243 | GPHN | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.81e-15 | -5.61e-01 | 0.3859 |
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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:001003810 | Cervix | CC | response to metal ion | 67/2311 | 373/18723 | 9.67e-04 | 8.10e-03 | 67 |
GO:0010038 | Colorectum | AD | response to metal ion | 106/3918 | 373/18723 | 3.22e-04 | 3.83e-03 | 106 |
GO:0099173 | Colorectum | AD | postsynapse organization | 51/3918 | 168/18723 | 2.47e-03 | 1.90e-02 | 51 |
GO:0050808 | Colorectum | AD | synapse organization | 112/3918 | 426/18723 | 4.25e-03 | 2.92e-02 | 112 |
GO:0099072 | Colorectum | AD | regulation of postsynaptic membrane neurotransmitter receptor levels | 22/3918 | 62/18723 | 5.72e-03 | 3.64e-02 | 22 |
GO:00991731 | Colorectum | SER | postsynapse organization | 46/2897 | 168/18723 | 5.20e-05 | 1.25e-03 | 46 |
GO:00100381 | Colorectum | SER | response to metal ion | 84/2897 | 373/18723 | 1.87e-04 | 3.44e-03 | 84 |
GO:00508081 | Colorectum | SER | synapse organization | 85/2897 | 426/18723 | 7.17e-03 | 4.99e-02 | 85 |
GO:00991732 | Colorectum | MSS | postsynapse organization | 48/3467 | 168/18723 | 9.32e-04 | 9.44e-03 | 48 |
GO:00990721 | Colorectum | MSS | regulation of postsynaptic membrane neurotransmitter receptor levels | 21/3467 | 62/18723 | 2.87e-03 | 2.23e-02 | 21 |
GO:00100382 | Colorectum | MSS | response to metal ion | 90/3467 | 373/18723 | 3.76e-03 | 2.76e-02 | 90 |
GO:00508082 | Colorectum | MSS | synapse organization | 101/3467 | 426/18723 | 3.96e-03 | 2.89e-02 | 101 |
GO:00100383 | Colorectum | MSI-H | response to metal ion | 41/1319 | 373/18723 | 3.09e-03 | 3.87e-02 | 41 |
GO:00508083 | Colorectum | FAP | synapse organization | 91/2622 | 426/18723 | 1.90e-05 | 4.74e-04 | 91 |
GO:00991733 | Colorectum | FAP | postsynapse organization | 42/2622 | 168/18723 | 1.01e-04 | 1.70e-03 | 42 |
GO:00990722 | Colorectum | FAP | regulation of postsynaptic membrane neurotransmitter receptor levels | 18/2622 | 62/18723 | 1.60e-03 | 1.42e-02 | 18 |
GO:00100384 | Colorectum | FAP | response to metal ion | 70/2622 | 373/18723 | 5.95e-03 | 3.75e-02 | 70 |
GO:00991734 | Colorectum | CRC | postsynapse organization | 36/2078 | 168/18723 | 7.61e-05 | 1.59e-03 | 36 |
GO:00508084 | Colorectum | CRC | synapse organization | 71/2078 | 426/18723 | 3.02e-04 | 4.76e-03 | 71 |
GO:00990723 | Colorectum | CRC | regulation of postsynaptic membrane neurotransmitter receptor levels | 16/2078 | 62/18723 | 9.40e-04 | 1.15e-02 | 16 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
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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 |
GPHN | SNV | Missense_Mutation | novel | c.55G>T | p.Val19Phe | p.V19F | Q9NQX3 | protein_coding | deleterious(0.02) | benign(0.045) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPHN | SNV | Missense_Mutation | c.1988C>T | p.Ser663Leu | p.S663L | Q9NQX3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A2K5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GPHN | SNV | Missense_Mutation | rs121908539 | c.28A>T | p.Asn10Tyr | p.N10Y | Q9NQX3 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-AJ-A23O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPHN | SNV | Missense_Mutation | novel | c.263C>G | p.Thr88Arg | p.T88R | Q9NQX3 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AJ-A2QO-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPHN | SNV | Missense_Mutation | novel | c.577N>A | p.Leu193Ile | p.L193I | Q9NQX3 | protein_coding | tolerated(0.07) | benign(0.242) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
GPHN | SNV | Missense_Mutation | c.1936G>A | p.Asp646Asn | p.D646N | Q9NQX3 | protein_coding | tolerated(0.36) | benign(0.015) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GPHN | SNV | Missense_Mutation | c.2075C>T | p.Ala692Val | p.A692V | Q9NQX3 | protein_coding | tolerated(0.06) | benign(0.07) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
GPHN | SNV | Missense_Mutation | rs780146563 | c.2302C>T | p.Arg768Trp | p.R768W | Q9NQX3 | protein_coding | deleterious(0) | probably_damaging(0.967) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GPHN | SNV | Missense_Mutation | c.1055C>A | p.Ser352Tyr | p.S352Y | Q9NQX3 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
GPHN | SNV | Missense_Mutation | novel | c.652N>A | p.Glu218Lys | p.E218K | Q9NQX3 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.979) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | 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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