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

Home

Download

Statistics

Help

Contact

	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: MFN1

Gene summary for MFN1

Gene summary.

Gene information	Species	Human
	Gene symbol	MFN1
	Gene ID	55669
	Gene name	mitofusin 1
	Gene Alias	hfzo1
	Cytomap	3q26.33
	Gene Type	protein-coding
	GO ID	GO:0006139
	UniProtAcc	A0A0C4DFN1

Top

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
55669	MFN1	CA_HPV_2	Human	Cervix	CC	2.35e-08	3.93e-01	0.0391
55669	MFN1	CCI_1	Human	Cervix	CC	2.43e-02	4.84e-01	0.528
55669	MFN1	CCI_2	Human	Cervix	CC	3.59e-09	9.62e-01	0.5249
55669	MFN1	CCI_3	Human	Cervix	CC	1.28e-03	5.47e-01	0.516
55669	MFN1	LZE4T	Human	Esophagus	ESCC	2.44e-11	3.50e-01	0.0811
55669	MFN1	LZE5T	Human	Esophagus	ESCC	2.88e-05	5.29e-01	0.0514
55669	MFN1	LZE7T	Human	Esophagus	ESCC	2.13e-03	2.78e-01	0.0667
55669	MFN1	LZE8T	Human	Esophagus	ESCC	5.24e-07	2.81e-01	0.067
55669	MFN1	LZE20T	Human	Esophagus	ESCC	6.00e-06	1.30e-01	0.0662
55669	MFN1	LZE24T	Human	Esophagus	ESCC	5.74e-16	4.89e-01	0.0596
55669	MFN1	LZE6T	Human	Esophagus	ESCC	6.87e-05	2.84e-01	0.0845
55669	MFN1	P1T-E	Human	Esophagus	ESCC	2.81e-07	4.07e-01	0.0875
55669	MFN1	P2T-E	Human	Esophagus	ESCC	1.46e-37	7.74e-01	0.1177
55669	MFN1	P4T-E	Human	Esophagus	ESCC	9.21e-20	4.98e-01	0.1323
55669	MFN1	P5T-E	Human	Esophagus	ESCC	1.15e-27	6.04e-01	0.1327
55669	MFN1	P8T-E	Human	Esophagus	ESCC	1.50e-16	3.20e-01	0.0889
55669	MFN1	P9T-E	Human	Esophagus	ESCC	1.13e-05	2.34e-01	0.1131
55669	MFN1	P10T-E	Human	Esophagus	ESCC	5.65e-23	4.84e-01	0.116
55669	MFN1	P11T-E	Human	Esophagus	ESCC	4.17e-04	3.46e-01	0.1426
55669	MFN1	P12T-E	Human	Esophagus	ESCC	1.42e-25	5.91e-01	0.1122

Page: 1 2 3 4 5

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
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.

Top

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).

Page: 1 2 3 4 5 6 7 8 9

Enriched GO biological processes.

GO ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	Count
GO:00091449	Cervix	CC	purine nucleoside triphosphate metabolic process	29/2311	88/18723	3.62e-07	1.45e-05	29
GO:00092058	Cervix	CC	purine ribonucleoside triphosphate metabolic process	27/2311	82/18723	9.24e-07	3.25e-05	27
GO:00091998	Cervix	CC	ribonucleoside triphosphate metabolic process	28/2311	89/18723	1.65e-06	5.44e-05	28
GO:00091419	Cervix	CC	nucleoside triphosphate metabolic process	31/2311	112/18723	9.38e-06	2.11e-04	31
GO:00070067	Cervix	CC	mitochondrial membrane organization	28/2311	116/18723	3.28e-04	3.47e-03	28
GO:00196939	Cervix	CC	ribose phosphate metabolic process	72/2311	396/18723	4.49e-04	4.48e-03	72
GO:00092599	Cervix	CC	ribonucleotide metabolic process	70/2311	385/18723	5.35e-04	5.18e-03	70
GO:000915010	Cervix	CC	purine ribonucleotide metabolic process	66/2311	368/18723	1.09e-03	9.07e-03	66
GO:000616310	Cervix	CC	purine nucleotide metabolic process	67/2311	396/18723	4.41e-03	2.69e-02	67
GO:007252110	Cervix	CC	purine-containing compound metabolic process	69/2311	416/18723	6.27e-03	3.54e-02	69
GO:00516461	Cervix	CC	mitochondrion localization	13/2311	50/18723	6.42e-03	3.58e-02	13
GO:000911710	Cervix	CC	nucleotide metabolic process	79/2311	489/18723	7.16e-03	3.85e-02	79
GO:000700619	Esophagus	ESCC	mitochondrial membrane organization	93/8552	116/18723	2.16e-14	1.11e-12	93
GO:0006753110	Esophagus	ESCC	nucleoside phosphate metabolic process	288/8552	497/18723	1.80e-08	3.50e-07	288
GO:0019693111	Esophagus	ESCC	ribose phosphate metabolic process	234/8552	396/18723	4.24e-08	7.76e-07	234
GO:0009117111	Esophagus	ESCC	nucleotide metabolic process	282/8552	489/18723	4.70e-08	8.50e-07	282
GO:0009141111	Esophagus	ESCC	nucleoside triphosphate metabolic process	78/8552	112/18723	2.36e-07	3.59e-06	78
GO:00482844	Esophagus	ESCC	organelle fusion	94/8552	141/18723	3.72e-07	5.16e-06	94
GO:0009259111	Esophagus	ESCC	ribonucleotide metabolic process	224/8552	385/18723	4.41e-07	6.00e-06	224
GO:0072521111	Esophagus	ESCC	purine-containing compound metabolic process	238/8552	416/18723	1.20e-06	1.49e-05	238

Page: 1 2 3 4 5

Enriched KEGG pathways.

Pathway ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	qvalue	Count
hsa0501220	Cervix	CC	Parkinson disease	102/1267	266/8465	1.81e-21	1.47e-19	8.66e-20	102
hsa0502218	Cervix	CC	Pathways of neurodegeneration - multiple diseases	128/1267	476/8465	2.87e-12	9.29e-11	5.50e-11	128
hsa0413718	Cervix	CC	Mitophagy - animal	22/1267	72/8465	5.77e-04	2.75e-03	1.63e-03	22
hsa046213	Cervix	CC	NOD-like receptor signaling pathway	41/1267	186/8465	5.90e-03	1.95e-02	1.15e-02	41
hsa05012110	Cervix	CC	Parkinson disease	102/1267	266/8465	1.81e-21	1.47e-19	8.66e-20	102
hsa0502219	Cervix	CC	Pathways of neurodegeneration - multiple diseases	128/1267	476/8465	2.87e-12	9.29e-11	5.50e-11	128
hsa0413719	Cervix	CC	Mitophagy - animal	22/1267	72/8465	5.77e-04	2.75e-03	1.63e-03	22
hsa0462112	Cervix	CC	NOD-like receptor signaling pathway	41/1267	186/8465	5.90e-03	1.95e-02	1.15e-02	41
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
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

Page: 1 2

Top

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

Page: 1

Top

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.

Page: 1

Top

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

MFN1

SNV

Missense_Mutation

c.17N>G

p.Ser6Cys

p.S6C

protein_coding

deleterious(0)

probably_damaging(1)

TCGA-A8-A08L-01

Breast

breast invasive carcinoma

Female

>=65

III/IV

Unknown

MFN1

SNV

Missense_Mutation

rs748861127

c.128N>T

p.Pro43Leu

p.P43L

protein_coding

tolerated(0.08)

benign(0.039)

TCGA-AN-A046-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

MFN1

SNV

Missense_Mutation

c.1132N>C

p.Asp378His

p.D378H

protein_coding

deleterious(0)

probably_damaging(0.985)

TCGA-AO-A0J4-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin

MFN1

SNV

Missense_Mutation

rs774808113

c.644N>T

p.Thr215Met

p.T215M

protein_coding

deleterious(0)

benign(0.392)

TCGA-UU-A93S-01

Breast

breast invasive carcinoma

Female

<65

III/IV

Unknown

MFN1

insertion

Frame_Shift_Ins

novel

c.899_900insGACTGGGTTTCACCATATTGCCCAGGCTGGTCTTG

p.Glu301ThrfsTer45

p.E301Tfs*45

protein_coding

TCGA-AN-A0FS-01

Breast

breast invasive carcinoma

Female

<65

I/II

Unknown

MFN1

deletion

Frame_Shift_Del

novel

c.1955delN

p.Lys653AsnfsTer2

p.K653Nfs*2

protein_coding

TCGA-D8-A27V-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

tamoxiphen

MFN1

SNV

Missense_Mutation

novel

c.1863N>T

p.Met621Ile

p.M621I

protein_coding

tolerated(0.37)

benign(0.005)

TCGA-VS-A8QH-01

Cervix

cervical & endocervical cancer

Female

>=65

I/II

Chemotherapy

gemcitabine

MFN1

SNV

Missense_Mutation

novel

c.639G>C

p.Met213Ile

p.M213I

protein_coding

deleterious(0.02)

benign(0.043)

TCGA-VS-A9UL-01

Cervix

cervical & endocervical cancer

Female

>=65

III/IV

Unknown

MFN1

SNV

Missense_Mutation

c.845N>C

p.Phe282Ser

p.F282S

protein_coding

deleterious(0)

probably_damaging(0.999)

TCGA-A6-6780-01

Colorectum

colon adenocarcinoma

Male

>=65

I/II

Unknown

MFN1

SNV

Missense_Mutation

c.82N>C

p.Phe28Leu

p.F28L

protein_coding

deleterious(0)

benign(0.197)

TCGA-AA-3864-01

Colorectum

colon adenocarcinoma

Male

>=65

I/II

Unknown

Page: 1 2 3 4 5 6 7 8

Top

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

Page: 1