![]() |
|||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Gene: APH1A |
Gene summary for APH1A |
![]() |
Gene information | Species | Human | Gene symbol | APH1A | Gene ID | 51107 |
Gene name | aph-1 homolog A, gamma-secretase subunit | |
Gene Alias | 6530402N02Rik | |
Cytomap | 1q21.2 | |
Gene Type | protein-coding | GO ID | GO:0001655 | UniProtAcc | Q96BI3 |
Top |
Malignant transformation analysis |
![]() |
![]() |
Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
51107 | APH1A | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.54e-05 | 2.57e-01 | 0.0155 |
51107 | APH1A | HTA11_2487_2000001011 | Human | Colorectum | SER | 2.53e-27 | 9.53e-01 | -0.1808 |
51107 | APH1A | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.49e-03 | 5.31e-01 | 0.0216 |
51107 | APH1A | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.18e-18 | 7.55e-01 | -0.0811 |
51107 | APH1A | HTA11_78_2000001011 | Human | Colorectum | AD | 1.56e-23 | 8.63e-01 | -0.1088 |
51107 | APH1A | HTA11_347_2000001011 | Human | Colorectum | AD | 7.66e-55 | 1.06e+00 | -0.1954 |
51107 | APH1A | HTA11_411_2000001011 | Human | Colorectum | SER | 2.91e-10 | 1.18e+00 | -0.2602 |
51107 | APH1A | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.83e-09 | 9.79e-01 | -0.2196 |
51107 | APH1A | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.59e-14 | 6.43e-01 | -0.1207 |
51107 | APH1A | HTA11_83_2000001011 | Human | Colorectum | SER | 4.40e-19 | 8.76e-01 | -0.1526 |
51107 | APH1A | HTA11_696_2000001011 | Human | Colorectum | AD | 2.94e-42 | 8.56e-01 | -0.1464 |
51107 | APH1A | HTA11_866_2000001011 | Human | Colorectum | AD | 9.89e-26 | 5.73e-01 | -0.1001 |
51107 | APH1A | HTA11_1391_2000001011 | Human | Colorectum | AD | 7.13e-32 | 9.87e-01 | -0.059 |
51107 | APH1A | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.93e-07 | 8.34e-01 | -0.1706 |
51107 | APH1A | HTA11_5212_2000001011 | Human | Colorectum | AD | 7.87e-11 | 6.55e-01 | -0.2061 |
51107 | APH1A | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.61e-07 | 9.06e-01 | -0.1462 |
51107 | APH1A | HTA11_546_2000001011 | Human | Colorectum | AD | 2.91e-06 | 5.38e-01 | -0.0842 |
51107 | APH1A | HTA11_9341_2000001011 | Human | Colorectum | SER | 3.70e-02 | 6.42e-01 | -0.00410000000000005 |
51107 | APH1A | HTA11_7862_2000001011 | Human | Colorectum | AD | 4.41e-19 | 8.69e-01 | -0.0179 |
51107 | APH1A | HTA11_866_3004761011 | Human | Colorectum | AD | 2.76e-38 | 9.81e-01 | 0.096 |
Page: 1 2 3 4 5 6 7 8 9 10 |
![]() |
∗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. |
Top |
Malignant transformation related pathway analysis |
![]() |
![]() |
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 |
![]() |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0010952 | Colorectum | AD | positive regulation of peptidase activity | 68/3918 | 197/18723 | 6.30e-06 | 1.59e-04 | 68 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0010950 | Colorectum | AD | positive regulation of endopeptidase activity | 59/3918 | 179/18723 | 1.11e-04 | 1.65e-03 | 59 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0033619 | Colorectum | AD | membrane protein proteolysis | 21/3918 | 57/18723 | 4.16e-03 | 2.88e-02 | 21 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:00458621 | Colorectum | SER | positive regulation of proteolysis | 106/2897 | 372/18723 | 8.40e-11 | 1.20e-08 | 106 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
GO:00109521 | Colorectum | SER | positive regulation of peptidase activity | 55/2897 | 197/18723 | 5.44e-06 | 2.00e-04 | 55 |
GO:00516041 | Colorectum | SER | protein maturation | 73/2897 | 294/18723 | 1.82e-05 | 5.38e-04 | 73 |
GO:00109501 | Colorectum | SER | positive regulation of endopeptidase activity | 47/2897 | 179/18723 | 1.32e-04 | 2.66e-03 | 47 |
GO:00164851 | Colorectum | SER | protein processing | 55/2897 | 225/18723 | 2.84e-04 | 4.67e-03 | 55 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00109522 | Colorectum | MSS | positive regulation of peptidase activity | 63/3467 | 197/18723 | 3.65e-06 | 1.06e-04 | 63 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
Page: 1 2 3 4 5 6 7 8 9 |
![]() |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050105 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050106 | Colorectum | MSI-H | Alzheimer disease | 91/797 | 384/8465 | 1.76e-17 | 6.41e-16 | 5.37e-16 | 91 |
hsa050107 | Colorectum | MSI-H | Alzheimer disease | 91/797 | 384/8465 | 1.76e-17 | 6.41e-16 | 5.37e-16 | 91 |
hsa0501020 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa05010110 | Endometrium | AEH | Alzheimer disease | 124/1197 | 384/8465 | 1.20e-20 | 3.91e-19 | 2.86e-19 | 124 |
hsa0501025 | Endometrium | EEC | Alzheimer disease | 126/1237 | 384/8465 | 2.25e-20 | 7.40e-19 | 5.52e-19 | 126 |
hsa0501035 | Endometrium | EEC | Alzheimer disease | 126/1237 | 384/8465 | 2.25e-20 | 7.40e-19 | 5.52e-19 | 126 |
hsa0501030 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa05010113 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0501014 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501015 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501022 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0501032 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
Page: 1 2 |
Top |
Cell-cell communication analysis |
![]() |
Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
Page: 1 |
Top |
Single-cell gene regulatory network inference analysis |
![]() |
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. |
Page: 1 |
Top |
Somatic mutation of malignant transformation related genes |
![]() |
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 |
APH1A | SNV | Missense_Mutation | novel | c.248N>G | p.Gln83Arg | p.Q83R | Q96BI3 | protein_coding | deleterious(0.01) | possibly_damaging(0.677) | TCGA-BA-5556-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
APH1A | SNV | Missense_Mutation | c.91N>T | p.Arg31Cys | p.R31C | Q96BI3 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-TN-A7HL-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | CR | |
APH1A | SNV | Missense_Mutation | c.668N>T | p.Ser223Phe | p.S223F | Q96BI3 | protein_coding | tolerated(0.26) | benign(0.003) | TCGA-UF-A71D-01 | Oral cavity | head & neck squamous cell carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
APH1A | SNV | Missense_Mutation | rs782767356 | c.322N>A | p.Gly108Arg | p.G108R | Q96BI3 | protein_coding | tolerated(0.26) | possibly_damaging(0.826) | TCGA-BR-8059-01 | Stomach | stomach adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
Page: 1 2 3 |
Top |
Related drugs of malignant transformation related genes |
![]() |
(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-15 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-25 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | SEMAGACESTAT | SEMAGACESTAT | 19443228 | |
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-20 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-23 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-35 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-30 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | PMID28350212-Compound-7 | |||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | MK0752 | ||
51107 | APH1A | DRUGGABLE GENOME, CLINICALLY ACTIONABLE | inhibitor | PF03084014 |
Page: 1 2 3 4 |