Schematic overview of the cellular and molecular mechanisms involved in the cancer progression, including the proposed cellular and molecular mechanisms in cancer cells trajectory. AT1: alveolar type 1 cells; AT2: alveolar type 2 cells; AAH: atypical adenomatous hyperplasia; AIS: adenocarcinoma in situ; MIA: minimally invasive adenocarcinoma; IA: invasive adenocarcinoma; EMT: epithelial-mesenchymal transition

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	Gene summary
	Malignant transformation analysis
	Malignant transformation related pathway analysis
	Cell-cell communication analysis
	Single-cell gene regulatory network inference analysis
	Somatic mutation of malignant transformation related genes
	Related drugs of malignant transformation related genes

Gene: MBTPS1

Gene summary for MBTPS1

Gene summary.

Gene information	Species	Human
	Gene symbol	MBTPS1
	Gene ID	8720
	Gene name	membrane bound transcription factor peptidase, site 1
	Gene Alias	PCSK8
	Cytomap	16q23.3-q24.1
	Gene Type	protein-coding
	GO ID	GO:0006066
	UniProtAcc	Q14703

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Malignant transformation analysis

Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells

Malignant transformation involving gene list.

Entrez ID	Symbol	Replicates	Species	Organ	Tissue	Adj P-value	Log2FC	Malignancy
8720	MBTPS1	LZE2T	Human	Esophagus	ESCC	7.30e-07	5.28e-01	0.082
8720	MBTPS1	LZE4T	Human	Esophagus	ESCC	4.87e-12	4.07e-01	0.0811
8720	MBTPS1	LZE7T	Human	Esophagus	ESCC	5.54e-09	6.50e-01	0.0667
8720	MBTPS1	LZE22D1	Human	Esophagus	HGIN	7.41e-03	2.86e-01	0.0595
8720	MBTPS1	LZE24T	Human	Esophagus	ESCC	6.61e-14	5.00e-01	0.0596
8720	MBTPS1	P1T-E	Human	Esophagus	ESCC	5.36e-11	5.73e-01	0.0875
8720	MBTPS1	P2T-E	Human	Esophagus	ESCC	2.93e-21	2.95e-01	0.1177
8720	MBTPS1	P4T-E	Human	Esophagus	ESCC	7.27e-15	3.79e-01	0.1323
8720	MBTPS1	P5T-E	Human	Esophagus	ESCC	7.04e-15	1.43e-01	0.1327
8720	MBTPS1	P8T-E	Human	Esophagus	ESCC	7.84e-45	8.57e-01	0.0889
8720	MBTPS1	P9T-E	Human	Esophagus	ESCC	8.28e-05	1.73e-01	0.1131
8720	MBTPS1	P10T-E	Human	Esophagus	ESCC	1.96e-22	3.92e-01	0.116
8720	MBTPS1	P11T-E	Human	Esophagus	ESCC	1.75e-11	6.54e-01	0.1426
8720	MBTPS1	P12T-E	Human	Esophagus	ESCC	2.01e-19	3.00e-01	0.1122
8720	MBTPS1	P15T-E	Human	Esophagus	ESCC	3.13e-17	5.42e-01	0.1149
8720	MBTPS1	P16T-E	Human	Esophagus	ESCC	5.32e-25	3.84e-01	0.1153
8720	MBTPS1	P17T-E	Human	Esophagus	ESCC	8.10e-07	4.98e-01	0.1278
8720	MBTPS1	P20T-E	Human	Esophagus	ESCC	1.40e-14	4.09e-01	0.1124
8720	MBTPS1	P21T-E	Human	Esophagus	ESCC	7.85e-22	5.16e-01	0.1617
8720	MBTPS1	P22T-E	Human	Esophagus	ESCC	1.28e-32	5.35e-01	0.1236

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Transcriptomic changes along malignancy continuum.

Tissue	Expression Dynamics	Abbreviation
Esophagus		ESCC: Esophageal squamous cell carcinoma
		HGIN: High-grade intraepithelial neoplasias
		LGIN: Low-grade intraepithelial neoplasias
Liver		HCC: Hepatocellular carcinoma
		NAFLD: Non-alcoholic fatty liver disease
Oral Cavity		EOLP: Erosive Oral lichen planus
		LP: leukoplakia
		NEOLP: Non-erosive oral lichen planus
		OSCC: Oral squamous cell carcinoma
Prostate		BPH: Benign Prostatic Hyperplasia
Skin		AK: Actinic keratosis
		cSCC: Cutaneous squamous cell carcinoma
		SCCIS:squamous cell carcinoma in situ
Thyroid		ATC: Anaplastic thyroid cancer
		HT: Hashimoto's thyroiditis
		PTC: Papillary thyroid cancer

∗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

Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer

Figure of enriched GO biological processes.

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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Enriched GO biological processes.

GO ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	Count
GO:003497625	Esophagus	HGIN	response to endoplasmic reticulum stress	81/2587	256/18723	1.47e-13	2.32e-11	81
GO:003596625	Esophagus	HGIN	response to topologically incorrect protein	54/2587	159/18723	8.53e-11	8.89e-09	54
GO:000698625	Esophagus	HGIN	response to unfolded protein	48/2587	137/18723	2.80e-10	2.54e-08	48
GO:003596725	Esophagus	HGIN	cellular response to topologically incorrect protein	41/2587	116/18723	4.07e-09	2.84e-07	41
GO:003462020	Esophagus	HGIN	cellular response to unfolded protein	36/2587	96/18723	5.82e-09	3.88e-07	36
GO:000698410	Esophagus	HGIN	ER-nucleus signaling pathway	19/2587	46/18723	4.28e-06	1.41e-04	19
GO:003096817	Esophagus	HGIN	endoplasmic reticulum unfolded protein response	24/2587	74/18723	3.39e-05	8.61e-04	24
GO:00070336	Esophagus	HGIN	vacuole organization	44/2587	180/18723	8.97e-05	1.96e-03	44
GO:0034976111	Esophagus	ESCC	response to endoplasmic reticulum stress	192/8552	256/18723	7.15e-22	1.30e-19	192
GO:0035966111	Esophagus	ESCC	response to topologically incorrect protein	125/8552	159/18723	1.44e-17	1.27e-15	125
GO:0006986111	Esophagus	ESCC	response to unfolded protein	107/8552	137/18723	7.01e-15	3.87e-13	107
GO:0035967111	Esophagus	ESCC	cellular response to topologically incorrect protein	90/8552	116/18723	1.94e-12	8.11e-11	90
GO:000703314	Esophagus	ESCC	vacuole organization	127/8552	180/18723	1.04e-11	3.85e-10	127
GO:0034620111	Esophagus	ESCC	cellular response to unfolded protein	74/8552	96/18723	3.10e-10	8.66e-09	74
GO:003096818	Esophagus	ESCC	endoplasmic reticulum unfolded protein response	59/8552	74/18723	1.90e-09	4.36e-08	59
GO:000698416	Esophagus	ESCC	ER-nucleus signaling pathway	38/8552	46/18723	2.70e-07	4.00e-06	38
GO:00070403	Esophagus	ESCC	lysosome organization	53/8552	74/18723	5.34e-06	5.57e-05	53
GO:00801713	Esophagus	ESCC	lytic vacuole organization	53/8552	74/18723	5.34e-06	5.57e-05	53
GO:00060668	Esophagus	ESCC	alcohol metabolic process	202/8552	353/18723	7.32e-06	7.26e-05	202
GO:00161263	Esophagus	ESCC	sterol biosynthetic process	46/8552	64/18723	1.91e-05	1.67e-04	46

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Enriched KEGG pathways.

Pathway ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	qvalue	Count
hsa0414139	Esophagus	HGIN	Protein processing in endoplasmic reticulum	67/1383	174/8465	1.06e-12	2.16e-11	1.72e-11	67
hsa04141114	Esophagus	HGIN	Protein processing in endoplasmic reticulum	67/1383	174/8465	1.06e-12	2.16e-11	1.72e-11	67
hsa04141211	Esophagus	ESCC	Protein processing in endoplasmic reticulum	147/4205	174/8465	3.29e-22	1.10e-19	5.64e-20	147
hsa04141310	Esophagus	ESCC	Protein processing in endoplasmic reticulum	147/4205	174/8465	3.29e-22	1.10e-19	5.64e-20	147
hsa0414114	Liver	Cirrhotic	Protein processing in endoplasmic reticulum	114/2530	174/8465	1.16e-22	9.67e-21	5.96e-21	114
hsa0414115	Liver	Cirrhotic	Protein processing in endoplasmic reticulum	114/2530	174/8465	1.16e-22	9.67e-21	5.96e-21	114
hsa0414122	Liver	HCC	Protein processing in endoplasmic reticulum	146/4020	174/8465	7.34e-24	2.46e-21	1.37e-21	146
hsa0414132	Liver	HCC	Protein processing in endoplasmic reticulum	146/4020	174/8465	7.34e-24	2.46e-21	1.37e-21	146
hsa0414130	Oral cavity	OSCC	Protein processing in endoplasmic reticulum	143/3704	174/8465	6.82e-26	2.28e-23	1.16e-23	143
hsa04141113	Oral cavity	OSCC	Protein processing in endoplasmic reticulum	143/3704	174/8465	6.82e-26	2.28e-23	1.16e-23	143
hsa04141210	Oral cavity	LP	Protein processing in endoplasmic reticulum	113/2418	174/8465	8.74e-24	5.82e-22	3.76e-22	113
hsa0414138	Oral cavity	LP	Protein processing in endoplasmic reticulum	113/2418	174/8465	8.74e-24	5.82e-22	3.76e-22	113
hsa0414128	Prostate	BPH	Protein processing in endoplasmic reticulum	97/1718	174/8465	2.37e-25	1.30e-23	8.07e-24	97
hsa04141112	Prostate	BPH	Protein processing in endoplasmic reticulum	97/1718	174/8465	2.37e-25	1.30e-23	8.07e-24	97
hsa0414129	Prostate	Tumor	Protein processing in endoplasmic reticulum	99/1791	174/8465	2.58e-25	1.71e-23	1.06e-23	99
hsa0414137	Prostate	Tumor	Protein processing in endoplasmic reticulum	99/1791	174/8465	2.58e-25	1.71e-23	1.06e-23	99

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Cell-cell communication analysis

Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states

Ligand

Receptor

LRpair

Pathway

Tissue

Disease Stage

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Single-cell gene regulatory network inference analysis

Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states

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

Annotation of somatic variants for genes involved in malignant transformation

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

MBTPS1

SNV

Missense_Mutation

novel

c.2099N>G

p.Glu700Gly

p.E700G

Q14703

protein_coding

deleterious(0)

probably_damaging(0.992)

TCGA-A2-A0EO-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

tamoxiphen

MBTPS1

SNV

Missense_Mutation

c.229C>A

p.Leu77Met

p.L77M

Q14703

protein_coding

tolerated(0.05)

probably_damaging(0.99)

TCGA-A2-A25A-01

Breast

breast invasive carcinoma

Female

<65

I/II

Unspecific

Cytoxan

MBTPS1

SNV

Missense_Mutation

rs762959593

c.1318G>A

p.Ala440Thr

p.A440T

Q14703

protein_coding

deleterious(0)

possibly_damaging(0.835)

TCGA-AR-A24Q-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin

MBTPS1

SNV

Missense_Mutation

c.2513G>A

p.Gly838Glu

p.G838E

Q14703

protein_coding

tolerated(0.79)

benign(0.012)

TCGA-B6-A0I6-01

Breast

breast invasive carcinoma

Female

<65

I/II

Unknown

MBTPS1

SNV

Missense_Mutation

novel

c.3102G>T

p.Arg1034Ser

p.R1034S

Q14703

protein_coding

deleterious_low_confidence(0.01)

probably_damaging(0.916)

TCGA-BH-A0C0-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

carboplatin

MBTPS1

SNV

Missense_Mutation

novel

c.612N>C

p.Gln204His

p.Q204H

Q14703

protein_coding

tolerated(0.11)

benign(0.396)

TCGA-C8-A26Y-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

MBTPS1

SNV

Missense_Mutation

c.229N>A

p.Leu77Met

p.L77M

Q14703

protein_coding

tolerated(0.05)

probably_damaging(0.99)

TCGA-D8-A1XL-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicine+cyclophosphamide+tamoxifen

MBTPS1

SNV

Missense_Mutation

c.3038T>C

p.Val1013Ala

p.V1013A

Q14703

protein_coding

tolerated_low_confidence(0.17)

possibly_damaging(0.9)

TCGA-EW-A1IZ-01

Breast

breast invasive carcinoma

Female

<65

III/IV

Chemotherapy

taxotere

MBTPS1

SNV

Missense_Mutation

novel

c.1762N>A

p.Ala588Thr

p.A588T

Q14703

protein_coding

tolerated(0.48)

benign(0.001)

TCGA-LL-A73Y-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Chemotherapy

taxotere

MBTPS1

insertion

Nonsense_Mutation

novel

c.1064_1065insTTAACTTATTAATT

p.Ile356Ter

p.I356*

Q14703

protein_coding

TCGA-A8-A08H-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

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Related drugs of malignant transformation related genes

Identification of chemicals and drugs interact with genes involved in malignant transfromation

(DGIdb 4.0)

Entrez ID	Symbol	Category	Interaction Types	Drug Claim Name	Drug Name	PMIDs
8720	MBTPS1	ENZYME, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, PROTEASE	inhibitor	252827485

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