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: OSBPL8

Gene summary for OSBPL8

Gene summary.

Gene information	Species	Human
	Gene symbol	OSBPL8
	Gene ID	114882
	Gene name	oxysterol binding protein like 8
	Gene Alias	MST120
	Cytomap	12q21.2
	Gene Type	protein-coding
	GO ID	GO:0001932
	UniProtAcc	Q5HYM3

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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
114882	OSBPL8	CA_HPV_1	Human	Cervix	CC	1.79e-06	-2.16e-01	0.0264
114882	OSBPL8	CCI_2	Human	Cervix	CC	4.99e-06	6.05e-01	0.5249
114882	OSBPL8	CCII_1	Human	Cervix	CC	1.09e-10	-6.13e-01	0.3249
114882	OSBPL8	Tumor	Human	Cervix	CC	9.77e-19	-5.28e-01	0.1241
114882	OSBPL8	sample1	Human	Cervix	CC	2.03e-03	-4.83e-01	0.0959
114882	OSBPL8	sample3	Human	Cervix	CC	1.24e-14	-4.38e-01	0.1387
114882	OSBPL8	H2	Human	Cervix	HSIL_HPV	1.14e-08	-3.61e-01	0.0632
114882	OSBPL8	L1	Human	Cervix	CC	9.00e-09	-4.87e-01	0.0802
114882	OSBPL8	T1	Human	Cervix	CC	1.19e-11	-5.14e-01	0.0918
114882	OSBPL8	T3	Human	Cervix	CC	4.72e-14	-4.21e-01	0.1389
114882	OSBPL8	LZE4T	Human	Esophagus	ESCC	8.60e-18	5.71e-01	0.0811
114882	OSBPL8	LZE5T	Human	Esophagus	ESCC	5.94e-05	4.97e-01	0.0514
114882	OSBPL8	LZE7T	Human	Esophagus	ESCC	2.61e-06	5.05e-01	0.0667
114882	OSBPL8	LZE8T	Human	Esophagus	ESCC	3.13e-04	-8.14e-03	0.067
114882	OSBPL8	LZE20T	Human	Esophagus	ESCC	1.54e-05	1.61e-01	0.0662
114882	OSBPL8	LZE22D1	Human	Esophagus	HGIN	2.06e-06	7.18e-02	0.0595
114882	OSBPL8	LZE22T	Human	Esophagus	ESCC	3.02e-04	2.21e-01	0.068
114882	OSBPL8	LZE24T	Human	Esophagus	ESCC	4.02e-14	3.84e-01	0.0596
114882	OSBPL8	LZE21T	Human	Esophagus	ESCC	7.15e-08	3.09e-01	0.0655
114882	OSBPL8	LZE6T	Human	Esophagus	ESCC	6.73e-06	1.20e-01	0.0845

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Transcriptomic changes along malignancy continuum.

Tissue	Expression Dynamics	Abbreviation
Cervix		CC: Cervix cancer
		HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions
		N_HPV: HPV-infected normal cervix
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
Lung		AAH: Atypical adenomatous hyperplasia
		AIS: Adenocarcinoma in situ
		IAC: Invasive lung adenocarcinoma
		MIA: Minimally invasive adenocarcinoma
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:00512359	Cervix	CC	maintenance of location	78/2311	327/18723	5.18e-09	4.92e-07	78
GO:003367410	Cervix	CC	positive regulation of kinase activity	101/2311	467/18723	8.66e-09	7.22e-07	101
GO:00458608	Cervix	CC	positive regulation of protein kinase activity	85/2311	386/18723	5.61e-08	3.29e-06	85
GO:00345048	Cervix	CC	protein localization to nucleus	68/2311	290/18723	9.91e-08	5.25e-06	68
GO:00454445	Cervix	CC	fat cell differentiation	53/2311	229/18723	3.72e-06	9.75e-05	53
GO:19016538	Cervix	CC	cellular response to peptide	72/2311	359/18723	1.89e-05	3.48e-04	72
GO:00512713	Cervix	CC	negative regulation of cellular component movement	73/2311	367/18723	2.22e-05	3.95e-04	73
GO:00400133	Cervix	CC	negative regulation of locomotion	76/2311	391/18723	3.47e-05	5.60e-04	76
GO:20001463	Cervix	CC	negative regulation of cell motility	71/2311	359/18723	3.47e-05	5.60e-04	71
GO:00303363	Cervix	CC	negative regulation of cell migration	68/2311	344/18723	5.11e-05	7.70e-04	68
GO:00434349	Cervix	CC	response to peptide hormone	77/2311	414/18723	1.40e-04	1.70e-03	77
GO:00713757	Cervix	CC	cellular response to peptide hormone stimulus	57/2311	290/18723	2.32e-04	2.59e-03	57
GO:00328698	Cervix	CC	cellular response to insulin stimulus	42/2311	203/18723	4.95e-04	4.83e-03	42
GO:00518964	Cervix	CC	regulation of protein kinase B signaling	39/2311	185/18723	5.25e-04	5.10e-03	39
GO:00518973	Cervix	CC	positive regulation of protein kinase B signaling	28/2311	120/18723	5.90e-04	5.59e-03	28
GO:00434913	Cervix	CC	protein kinase B signaling	43/2311	211/18723	5.95e-04	5.60e-03	43
GO:00328688	Cervix	CC	response to insulin	50/2311	264/18723	1.28e-03	1.02e-02	50
GO:00108834	Cervix	CC	regulation of lipid storage	15/2311	57/18723	3.13e-03	2.05e-02	15
GO:00082865	Cervix	CC	insulin receptor signaling pathway	25/2311	116/18723	3.59e-03	2.30e-02	25
GO:00347645	Cervix	CC	positive regulation of transmembrane transport	40/2311	219/18723	6.97e-03	3.76e-02	40

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Enriched KEGG pathways.

Pathway ID

Tissue

Disease Stage

Description

Gene Ratio

Bg Ratio

pvalue

p.adjust

qvalue

Count

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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

OSBPL8

SNV

Missense_Mutation

c.1103C>A

p.Pro368His

p.P368H

Q9BZF1

protein_coding

tolerated(0.09)

benign(0.416)

TCGA-A7-A0DB-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

arimidex

OSBPL8

SNV

Missense_Mutation

rs201177828

c.1601N>T

p.Gly534Val

p.G534V

Q9BZF1

protein_coding

deleterious(0)

probably_damaging(0.939)

TCGA-A8-A07P-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Chemotherapy

5-fluorouracil

OSBPL8

SNV

Missense_Mutation

rs201177828

c.1601G>T

p.Gly534Val

p.G534V

Q9BZF1

protein_coding

deleterious(0)

probably_damaging(0.939)

TCGA-A8-A081-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

OSBPL8

SNV

Missense_Mutation

rs201177828

c.1601N>T

p.Gly534Val

p.G534V

Q9BZF1

protein_coding

deleterious(0)

probably_damaging(0.939)

TCGA-A8-A094-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

OSBPL8

SNV

Missense_Mutation

c.1654N>C

p.Glu552Gln

p.E552Q

Q9BZF1

protein_coding

deleterious(0.01)

benign(0.061)

TCGA-AC-A23H-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

OSBPL8

SNV

Missense_Mutation

novel

c.386N>A

p.Arg129Gln

p.R129Q

Q9BZF1

protein_coding

deleterious(0.02)

probably_damaging(0.957)

TCGA-AR-A5QQ-01

Breast

breast invasive carcinoma

Female

>=65

III/IV

Chemotherapy

carboplatin

OSBPL8

SNV

Missense_Mutation

rs201177828

c.1601G>T

p.Gly534Val

p.G534V

Q9BZF1

protein_coding

deleterious(0)

probably_damaging(0.939)

TCGA-BH-A0BD-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin

OSBPL8

SNV

Missense_Mutation

c.442G>A

p.Val148Ile

p.V148I

Q9BZF1

protein_coding

tolerated(0.09)

possibly_damaging(0.562)

TCGA-BH-A0BM-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

adriamycin

OSBPL8

SNV

Missense_Mutation

novel

c.2608N>C

p.Asp870His

p.D870H

Q9BZF1

protein_coding

tolerated(0.58)

benign(0.001)

TCGA-BH-A2L8-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

cytoxan

OSBPL8

SNV

Missense_Mutation

c.602N>A

p.Arg201His

p.R201H

Q9BZF1

protein_coding

deleterious(0)

probably_damaging(0.997)

TCGA-D8-A1XF-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

adriamycin+cyclophosphamide

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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

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