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: MFN2

Gene summary for MFN2

Gene summary.

Gene information	Species	Human
	Gene symbol	MFN2
	Gene ID	9927
	Gene name	mitofusin 2
	Gene Alias	CMT2A
	Cytomap	1p36.22
	Gene Type	protein-coding
	GO ID	GO:0000045
	UniProtAcc	O95140

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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
9927	MFN2	LZE4T	Human	Esophagus	ESCC	7.32e-11	9.62e-02	0.0811
9927	MFN2	LZE5T	Human	Esophagus	ESCC	1.91e-04	2.60e-01	0.0514
9927	MFN2	LZE7T	Human	Esophagus	ESCC	1.88e-04	2.12e-01	0.0667
9927	MFN2	LZE8T	Human	Esophagus	ESCC	1.62e-03	1.82e-01	0.067
9927	MFN2	LZE20T	Human	Esophagus	ESCC	1.88e-03	5.27e-02	0.0662
9927	MFN2	LZE24T	Human	Esophagus	ESCC	4.61e-11	3.23e-01	0.0596
9927	MFN2	P2T-E	Human	Esophagus	ESCC	1.11e-19	1.65e-01	0.1177
9927	MFN2	P4T-E	Human	Esophagus	ESCC	3.62e-07	1.24e-01	0.1323
9927	MFN2	P5T-E	Human	Esophagus	ESCC	1.45e-06	1.59e-01	0.1327
9927	MFN2	P8T-E	Human	Esophagus	ESCC	1.76e-10	1.18e-01	0.0889
9927	MFN2	P9T-E	Human	Esophagus	ESCC	2.60e-05	4.66e-02	0.1131
9927	MFN2	P10T-E	Human	Esophagus	ESCC	2.07e-14	2.12e-01	0.116
9927	MFN2	P11T-E	Human	Esophagus	ESCC	2.51e-14	3.47e-01	0.1426
9927	MFN2	P12T-E	Human	Esophagus	ESCC	4.30e-08	1.40e-01	0.1122
9927	MFN2	P15T-E	Human	Esophagus	ESCC	2.32e-19	4.94e-01	0.1149
9927	MFN2	P16T-E	Human	Esophagus	ESCC	1.28e-06	9.26e-02	0.1153
9927	MFN2	P17T-E	Human	Esophagus	ESCC	6.02e-09	3.54e-01	0.1278
9927	MFN2	P19T-E	Human	Esophagus	ESCC	4.12e-04	4.93e-01	0.1662
9927	MFN2	P20T-E	Human	Esophagus	ESCC	1.97e-16	3.72e-01	0.1124
9927	MFN2	P21T-E	Human	Esophagus	ESCC	1.03e-25	5.80e-01	0.1617

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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
Skin		AK: Actinic keratosis
		cSCC: Cutaneous squamous cell carcinoma
		SCCIS:squamous cell carcinoma in situ

∗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:0072594110	Esophagus	ESCC	establishment of protein localization to organelle	311/8552	422/18723	3.02e-32	2.13e-29	311
GO:001623617	Esophagus	ESCC	macroautophagy	216/8552	291/18723	1.94e-23	4.57e-21	216
GO:0022411111	Esophagus	ESCC	cellular component disassembly	305/8552	443/18723	1.94e-23	4.57e-21	305
GO:0006605111	Esophagus	ESCC	protein targeting	229/8552	314/18723	4.93e-23	1.01e-20	229
GO:0006839110	Esophagus	ESCC	mitochondrial transport	187/8552	254/18723	8.35e-20	9.81e-18	187
GO:0035966111	Esophagus	ESCC	response to topologically incorrect protein	125/8552	159/18723	1.44e-17	1.27e-15	125
GO:000170119	Esophagus	ESCC	in utero embryonic development	243/8552	367/18723	1.00e-15	6.86e-14	243
GO:0072655110	Esophagus	ESCC	establishment of protein localization to mitochondrion	97/8552	120/18723	2.17e-15	1.33e-13	97
GO:0070585110	Esophagus	ESCC	protein localization to mitochondrion	100/8552	125/18723	2.96e-15	1.77e-13	100
GO:0006986111	Esophagus	ESCC	response to unfolded protein	107/8552	137/18723	7.01e-15	3.87e-13	107
GO:000700619	Esophagus	ESCC	mitochondrial membrane organization	93/8552	116/18723	2.16e-14	1.11e-12	93
GO:0006626110	Esophagus	ESCC	protein targeting to mitochondrion	81/8552	100/18723	3.60e-13	1.67e-11	81
GO:190300816	Esophagus	ESCC	organelle disassembly	89/8552	114/18723	1.36e-12	5.80e-11	89
GO:000703314	Esophagus	ESCC	vacuole organization	127/8552	180/18723	1.04e-11	3.85e-10	127
GO:000042217	Esophagus	ESCC	autophagy of mitochondrion	63/8552	81/18723	3.41e-09	7.24e-08	63
GO:006172617	Esophagus	ESCC	mitochondrion disassembly	63/8552	81/18723	3.41e-09	7.24e-08	63
GO:000726510	Esophagus	ESCC	Ras protein signal transduction	201/8552	337/18723	1.44e-07	2.30e-06	201
GO:190503712	Esophagus	ESCC	autophagosome organization	73/8552	103/18723	1.88e-07	2.93e-06	73
GO:00482844	Esophagus	ESCC	organelle fusion	94/8552	141/18723	3.72e-07	5.16e-06	94
GO:000004513	Esophagus	ESCC	autophagosome assembly	69/8552	99/18723	1.10e-06	1.38e-05	69

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Enriched KEGG pathways.

Pathway ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	qvalue	Count
hsa05012211	Esophagus	ESCC	Parkinson disease	201/4205	266/8465	1.56e-18	8.72e-17	4.46e-17	201
hsa05022210	Esophagus	ESCC	Pathways of neurodegeneration - multiple diseases	318/4205	476/8465	6.10e-15	2.04e-13	1.05e-13	318
hsa04137210	Esophagus	ESCC	Mitophagy - animal	54/4205	72/8465	9.33e-06	4.96e-05	2.54e-05	54
hsa0462122	Esophagus	ESCC	NOD-like receptor signaling pathway	116/4205	186/8465	2.90e-04	1.03e-03	5.30e-04	116
hsa05012310	Esophagus	ESCC	Parkinson disease	201/4205	266/8465	1.56e-18	8.72e-17	4.46e-17	201
hsa0502238	Esophagus	ESCC	Pathways of neurodegeneration - multiple diseases	318/4205	476/8465	6.10e-15	2.04e-13	1.05e-13	318
hsa0413738	Esophagus	ESCC	Mitophagy - animal	54/4205	72/8465	9.33e-06	4.96e-05	2.54e-05	54
hsa0462132	Esophagus	ESCC	NOD-like receptor signaling pathway	116/4205	186/8465	2.90e-04	1.03e-03	5.30e-04	116
hsa0501222	Liver	HCC	Parkinson disease	198/4020	266/8465	9.40e-20	1.58e-17	8.76e-18	198
hsa0502222	Liver	HCC	Pathways of neurodegeneration - multiple diseases	298/4020	476/8465	6.59e-12	1.30e-10	7.22e-11	298
hsa0413741	Liver	HCC	Mitophagy - animal	53/4020	72/8465	5.49e-06	4.59e-05	2.56e-05	53
hsa0501232	Liver	HCC	Parkinson disease	198/4020	266/8465	9.40e-20	1.58e-17	8.76e-18	198
hsa0502232	Liver	HCC	Pathways of neurodegeneration - multiple diseases	298/4020	476/8465	6.59e-12	1.30e-10	7.22e-11	298
hsa0413751	Liver	HCC	Mitophagy - animal	53/4020	72/8465	5.49e-06	4.59e-05	2.56e-05	53
hsa0501230	Oral cavity	OSCC	Parkinson disease	188/3704	266/8465	1.82e-19	1.52e-17	7.75e-18	188
hsa0502228	Oral cavity	OSCC	Pathways of neurodegeneration - multiple diseases	292/3704	476/8465	1.60e-15	4.47e-14	2.28e-14	292
hsa0413728	Oral cavity	OSCC	Mitophagy - animal	58/3704	72/8465	1.48e-10	2.07e-09	1.05e-09	58
hsa046218	Oral cavity	OSCC	NOD-like receptor signaling pathway	108/3704	186/8465	5.13e-05	2.07e-04	1.05e-04	108
hsa05012113	Oral cavity	OSCC	Parkinson disease	188/3704	266/8465	1.82e-19	1.52e-17	7.75e-18	188
hsa05022112	Oral cavity	OSCC	Pathways of neurodegeneration - multiple diseases	292/3704	476/8465	1.60e-15	4.47e-14	2.28e-14	292

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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

MFN2

SNV

Missense_Mutation

c.1055N>A

p.Ser352Tyr

p.S352Y

O95140

protein_coding

deleterious(0)

probably_damaging(0.996)

TCGA-B6-A0IC-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

MFN2

SNV

Missense_Mutation

rs373368672

c.1642N>A

p.Gly548Arg

p.G548R

O95140

protein_coding

deleterious(0)

probably_damaging(0.998)

TCGA-D8-A1XK-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicine+cyclophosphamide

MFN2

SNV

Missense_Mutation

c.2255N>T

p.Tyr752Phe

p.Y752F

O95140

protein_coding

tolerated(0.4)

benign(0.174)

TCGA-E2-A150-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin

MFN2

insertion

Frame_Shift_Ins

novel

c.1677_1678insCCAGCAGTGACAGTAG

p.Lys560ProfsTer17

p.K560Pfs*17

O95140

protein_coding

TCGA-A7-A0D9-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

taxotere

MFN2

insertion

Nonsense_Mutation

novel

c.580_581insCAGTCTGGCCAACATGGTGAAACCCTGTCTCTACTCAAA

p.Asp194delinsAlaValTrpProThrTrpTerAsnProValSerThrGlnAsn

p.D194delinsAVWPTW*NPVSTQN

O95140

protein_coding

TCGA-AN-A0FD-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

MFN2

insertion

Frame_Shift_Ins

novel

c.1041_1042insGC

p.Cys348AlafsTer8

p.C348Afs*8

O95140

protein_coding

TCGA-AO-A0JB-01

Breast

breast invasive carcinoma

Female

<65

III/IV

Chemotherapy

cyclophosphamide

MFN2

insertion

Nonsense_Mutation

novel

c.1042_1043insTAACAAGAGGCAGTCTAGGGCACGTTTAA

p.Cys348LeufsTer10

p.C348Lfs*10

O95140

protein_coding

TCGA-AO-A0JB-01

Breast

breast invasive carcinoma

Female

<65

III/IV

Chemotherapy

cyclophosphamide

MFN2

SNV

Missense_Mutation

rs119103268

c.310C>T

p.Arg104Trp

p.R104W

O95140

protein_coding

deleterious(0)

probably_damaging(1)

TCGA-2W-A8YY-01

Cervix

cervical & endocervical cancer

Female

<65

I/II

Chemotherapy

cisplatin

MFN2

SNV

Missense_Mutation

c.154G>A

p.Glu52Lys

p.E52K

O95140

protein_coding

deleterious(0)

possibly_damaging(0.627)

TCGA-DG-A2KK-01

Cervix

cervical & endocervical cancer

Female

<65

III/IV

Chemotherapy

cisplatin

MFN2

SNV

Missense_Mutation

c.1085C>G

p.Thr362Arg

p.T362R

O95140

protein_coding

deleterious(0)

probably_damaging(0.923)

TCGA-DS-A1OC-01

Cervix

cervical & endocervical cancer

Female

<65

I/II

Chemotherapy

gemcitabine

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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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