APH1A | OmnibusX

I. Expression across cell types

Name	Number of supported studies	Average coverage
natural killer cell	25 studies	25% ± 8%	Explore
CD4-positive, alpha-beta T cell	22 studies	24% ± 6%	Explore
B cell	21 studies	31% ± 9%	Explore
conventional dendritic cell	21 studies	34% ± 14%	Explore
CD8-positive, alpha-beta T cell	21 studies	26% ± 6%	Explore
macrophage	19 studies	29% ± 9%	Explore
endothelial cell	18 studies	28% ± 14%	Explore
memory B cell	17 studies	32% ± 7%	Explore
naive B cell	17 studies	30% ± 8%	Explore
regulatory T cell	17 studies	28% ± 6%	Explore
non-classical monocyte	16 studies	28% ± 12%	Explore
plasmacytoid dendritic cell	15 studies	38% ± 12%	Explore
classical monocyte	15 studies	27% ± 10%	Explore
fibroblast	15 studies	28% ± 9%	Explore
CD16-positive, CD56-dim natural killer cell, human	13 studies	28% ± 7%	Explore
T cell	12 studies	24% ± 5%	Explore
mature NK T cell	12 studies	24% ± 8%	Explore
gamma-delta T cell	12 studies	30% ± 7%	Explore
naive thymus-derived CD4-positive, alpha-beta T cell	11 studies	25% ± 6%	Explore
naive thymus-derived CD8-positive, alpha-beta T cell	11 studies	28% ± 5%	Explore
capillary endothelial cell	11 studies	27% ± 15%	Explore
CD8-positive, alpha-beta memory T cell	10 studies	27% ± 8%	Explore
basal cell	10 studies	31% ± 17%	Explore
CD16-negative, CD56-bright natural killer cell, human	10 studies	28% ± 5%	Explore
endothelial cell of artery	10 studies	27% ± 13%	Explore
endothelial cell of lymphatic vessel	10 studies	25% ± 9%	Explore
epithelial cell	9 studies	39% ± 19%	Explore
mucosal invariant T cell	9 studies	31% ± 6%	Explore
CD4-positive, alpha-beta memory T cell	8 studies	30% ± 6%	Explore
monocyte	8 studies	24% ± 9%	Explore
connective tissue cell	8 studies	28% ± 8%	Explore
dendritic cell	8 studies	48% ± 16%	Explore
effector memory CD8-positive, alpha-beta T cell	7 studies	28% ± 9%	Explore
myofibroblast cell	7 studies	20% ± 4%	Explore
vein endothelial cell	7 studies	28% ± 12%	Explore
endothelial cell of vascular tree	7 studies	23% ± 6%	Explore
myeloid cell	7 studies	29% ± 11%	Explore
abnormal cell	7 studies	32% ± 17%	Explore
pericyte	6 studies	22% ± 4%	Explore
T follicular helper cell	6 studies	23% ± 3%	Explore
mast cell	6 studies	21% ± 6%	Explore
hematopoietic precursor cell	5 studies	33% ± 13%	Explore
plasma cell	5 studies	29% ± 9%	Explore
plasmablast	5 studies	42% ± 21%	Explore
secretory cell	5 studies	23% ± 8%	Explore
hematopoietic stem cell	5 studies	28% ± 8%	Explore
precursor B cell	5 studies	32% ± 7%	Explore
effector CD8-positive, alpha-beta T cell	5 studies	29% ± 6%	Explore
goblet cell	5 studies	24% ± 9%	Explore
leukocyte	4 studies	22% ± 7%	Explore
exhausted T cell	4 studies	30% ± 4%	Explore
progenitor cell	4 studies	22% ± 7%	Explore
mesothelial cell	4 studies	35% ± 17%	Explore
pro-B cell	4 studies	27% ± 5%	Explore
smooth muscle cell	4 studies	20% ± 3%	Explore
type I pneumocyte	4 studies	29% ± 5%	Explore
effector CD4-positive, alpha-beta T cell	4 studies	37% ± 4%	Explore
effector memory CD4-positive, alpha-beta T cell	4 studies	34% ± 7%	Explore
effector memory CD8-positive, alpha-beta T cell, terminally differentiated	4 studies	27% ± 6%	Explore
squamous epithelial cell	3 studies	35% ± 21%	Explore
mononuclear phagocyte	3 studies	32% ± 18%	Explore
glomerular endothelial cell	3 studies	19% ± 2%	Explore
kidney distal convoluted tubule epithelial cell	3 studies	22% ± 1%	Explore
neural crest cell	3 studies	23% ± 5%	Explore
lymphocyte	3 studies	25% ± 5%	Explore
immature B cell	3 studies	31% ± 8%	Explore
type II pneumocyte	3 studies	32% ± 10%	Explore
ciliated cell	3 studies	32% ± 1%	Explore
germinal center B cell	3 studies	22% ± 3%	Explore
intermediate monocyte	3 studies	40% ± 17%	Explore
neuron	3 studies	31% ± 18%	Explore
enteroendocrine cell	3 studies	30% ± 12%	Explore
intestinal crypt stem cell	3 studies	20% ± 3%	Explore
group 3 innate lymphoid cell	3 studies	28% ± 6%	Explore
transit amplifying cell	3 studies	18% ± 2%	Explore
T-helper 1 cell	3 studies	27% ± 6%	Explore
T-helper 17 cell	3 studies	24% ± 7%	Explore
innate lymphoid cell	3 studies	26% ± 4%	Explore
double negative thymocyte	3 studies	36% ± 2%	Explore
luminal hormone-sensing cell of mammary gland	3 studies	25% ± 4%	Explore
erythrocyte	3 studies	22% ± 9%	Explore

II. Expression across tissues

Name	Number of supported studies	Average coverage
peripheral blood	15 studies	28% ± 6%	Explore
lung	8 studies	29% ± 7%	Explore
intestine	5 studies	25% ± 13%	Explore
kidney	4 studies	23% ± 6%	Explore
lymph node	4 studies	28% ± 7%	Explore
bone marrow	3 studies	22% ± 5%	Explore
liver	3 studies	24% ± 10%	Explore
breast	3 studies	20% ± 4%	Explore

Tissue	GTEx Coverage	GTEx Average TPM	GTEx Number of samples	TCGA Coverage	TCGA Average TPM	TCGA Number of samples
liver	100%	6389.25	226 / 226	100%	183.28	406 / 406
ovary	100%	7121.47	180 / 180	100%	209.46	430 / 430
pancreas	100%	4379.88	328 / 328	100%	202.03	178 / 178
esophagus	100%	6013.53	1444 / 1445	100%	94.94	183 / 183
breast	100%	7317.90	459 / 459	100%	297.95	1117 / 1118
thymus	100%	7797.23	653 / 653	100%	207.56	604 / 605
lung	100%	7869.34	578 / 578	100%	223.92	1153 / 1155
skin	100%	9286.44	1809 / 1809	100%	213.39	471 / 472
uterus	100%	5677.61	170 / 170	100%	217.22	458 / 459
brain	100%	3486.64	2635 / 2642	100%	178.81	705 / 705
stomach	100%	5710.31	359 / 359	100%	147.30	285 / 286
prostate	100%	5949.96	245 / 245	100%	178.73	500 / 502
kidney	100%	6306.15	89 / 89	99%	143.19	896 / 901
intestine	100%	6129.65	966 / 966	99%	179.59	524 / 527
bladder	100%	5469.86	21 / 21	99%	223.42	501 / 504
adrenal gland	100%	8124.10	258 / 258	97%	101.79	222 / 230
adipose	100%	6644.55	1204 / 1204	0%	0	0 / 0
eye	0%	0	0 / 0	100%	168.74	80 / 80
lymph node	0%	0	0 / 0	100%	173.97	29 / 29
spleen	100%	9006.12	241 / 241	0%	0	0 / 0
tonsil	0%	0	0 / 0	100%	190.18	45 / 45
ureter	0%	0	0 / 0	100%	143.95	1 / 1
blood vessel	100%	3718.85	1333 / 1335	0%	0	0 / 0
heart	100%	3720.46	857 / 861	0%	0	0 / 0
muscle	99%	3005.43	798 / 803	0%	0	0 / 0
peripheral blood	99%	6232.08	916 / 929	0%	0	0 / 0
abdomen	0%	0	0 / 0	0%	0	0 / 0
bone marrow	0%	0	0 / 0	0%	0	0 / 0
diaphragm	0%	0	0 / 0	0%	0	0 / 0
gingiva	0%	0	0 / 0	0%	0	0 / 0
nasal cavity	0%	0	0 / 0	0%	0	0 / 0
nasopharynx	0%	0	0 / 0	0%	0	0 / 0
nose	0%	0	0 / 0	0%	0	0 / 0
placenta	0%	0	0 / 0	0%	0	0 / 0
spinal column	0%	0	0 / 0	0%	0	0 / 0

III. Associated gene sets

GO_0007220	Biological process	Notch receptor processing
GO_0031293	Biological process	membrane protein intracellular domain proteolysis
GO_0007219	Biological process	Notch signaling pathway
GO_0001656	Biological process	metanephros development
GO_0016485	Biological process	protein processing
GO_0042982	Biological process	amyloid precursor protein metabolic process
GO_0010950	Biological process	positive regulation of endopeptidase activity
GO_0042987	Biological process	amyloid precursor protein catabolic process
GO_0034205	Biological process	amyloid-beta formation
GO_0006509	Biological process	membrane protein ectodomain proteolysis
GO_0070765	Cellular component	gamma-secretase complex
GO_0005886	Cellular component	plasma membrane
GO_0016020	Cellular component	membrane
GO_0005789	Cellular component	endoplasmic reticulum membrane
GO_0005769	Cellular component	early endosome
GO_0005794	Cellular component	Golgi apparatus
GO_0042734	Cellular component	presynaptic membrane
GO_0000139	Cellular component	Golgi membrane
GO_0005783	Cellular component	endoplasmic reticulum
GO_0008021	Cellular component	synaptic vesicle
GO_0010008	Cellular component	endosome membrane
GO_0032580	Cellular component	Golgi cisterna membrane
GO_0019899	Molecular function	enzyme binding
GO_0061133	Molecular function	endopeptidase activator activity
GO_0030674	Molecular function	protein-macromolecule adaptor activity
GO_0005515	Molecular function	protein binding

IV. Literature review

[source]

Gene name	APH1A
Protein name	Gamma-secretase subunit APH-1 (APH-1) Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin-stabilization factor)
Synonyms	UNQ579/PRO1141 PSF CGI-78 RP4-790G17.3-008
Description	FUNCTION: Non-catalytic subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP (amyloid-beta precursor protein) . Required for normal gamma-secretase assembly . The gamma-secretase complex plays a role in Notch and Wnt signaling cascades and regulation of downstream processes via its role in processing key regulatory proteins, and by regulating cytosolic CTNNB1 levels (Probable). . FUNCTION: Potential subunit of the gamma-secretase complex, an endoprotease complex that catalyzes the intramembrane cleavage of integral proteins such as Notch receptors. .
Accessions	Q5TB21 ENST00000236017.5 Q96BI3 ENST00000369109.8 [Q96BI3-1] ENST00000414276.6 [Q96BI3-3] ENST00000360244.8 [Q96BI3-2]

APH1A report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

IV. Literature review