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: ELF1

Gene summary for ELF1

Gene summary.

Gene information	Species	Human
	Gene symbol	ELF1
	Gene ID	1997
	Gene name	E74 like ETS transcription factor 1
	Gene Alias	EFTUD1
	Cytomap	13q14.11
	Gene Type	protein-coding
	GO ID	GO:0006139
	UniProtAcc	P32519

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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
1997	ELF1	CA_HPV_1	Human	Cervix	CC	3.96e-06	-9.21e-02	0.0264
1997	ELF1	CA_HPV_3	Human	Cervix	CC	8.48e-03	-4.96e-02	0.0414
1997	ELF1	CCI_1	Human	Cervix	CC	1.92e-05	7.78e-01	0.528
1997	ELF1	CCI_2	Human	Cervix	CC	5.24e-09	1.49e+00	0.5249
1997	ELF1	CCI_3	Human	Cervix	CC	9.46e-10	1.14e+00	0.516
1997	ELF1	Tumor	Human	Cervix	CC	2.36e-08	-3.48e-01	0.1241
1997	ELF1	sample3	Human	Cervix	CC	2.86e-09	-3.39e-01	0.1387
1997	ELF1	T1	Human	Cervix	CC	1.15e-05	-4.14e-01	0.0918
1997	ELF1	T3	Human	Cervix	CC	1.37e-10	-3.30e-01	0.1389
1997	ELF1	HTA11_3410_2000001011	Human	Colorectum	AD	5.32e-27	-6.61e-01	0.0155
1997	ELF1	HTA11_347_2000001011	Human	Colorectum	AD	3.80e-02	3.39e-01	-0.1954
1997	ELF1	HTA11_3361_2000001011	Human	Colorectum	AD	1.50e-03	-5.59e-01	-0.1207
1997	ELF1	HTA11_5212_2000001011	Human	Colorectum	AD	1.64e-02	-3.04e-01	-0.2061
1997	ELF1	HTA11_7862_2000001011	Human	Colorectum	AD	1.44e-03	-3.77e-01	-0.0179
1997	ELF1	HTA11_866_3004761011	Human	Colorectum	AD	3.44e-09	-5.56e-01	0.096
1997	ELF1	HTA11_7696_3000711011	Human	Colorectum	AD	1.19e-02	-3.08e-01	0.0674
1997	ELF1	HTA11_6818_2000001021	Human	Colorectum	AD	2.32e-03	-4.75e-01	0.0588
1997	ELF1	HTA11_99999965104_69814	Human	Colorectum	MSS	6.66e-14	9.84e-01	0.281
1997	ELF1	HTA11_99999974143_84620	Human	Colorectum	MSS	4.11e-13	-5.18e-01	0.3005
1997	ELF1	A001-C-207	Human	Colorectum	FAP	1.39e-04	-3.67e-01	0.1278

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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
Colorectum (GSE201348)		FAP: Familial adenomatous polyposis
		CRC: Colorectal cancer
Colorectum (HTA11)		AD: Adenomas
		SER: Sessile serrated lesions
		MSI-H: Microsatellite-high colorectal cancer
		MSS: Microsatellite stable colorectal cancer
Endometrium		AEH: Atypical endometrial hyperplasia
		EEC: Endometrioid Cancer
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:000039834	Thyroid	ATC	mRNA splicing, via spliceosome	197/6293	320/18723	6.54e-25	2.18e-22	197
GO:190331134	Thyroid	ATC	regulation of mRNA metabolic process	181/6293	288/18723	1.75e-24	5.54e-22	181
GO:005068434	Thyroid	ATC	regulation of mRNA processing	97/6293	137/18723	5.28e-19	7.25e-17	97
GO:000640127	Thyroid	ATC	RNA catabolic process	165/6293	278/18723	8.45e-19	1.14e-16	165
GO:004348435	Thyroid	ATC	regulation of RNA splicing	100/6293	148/18723	2.75e-17	2.72e-15	100
GO:000640227	Thyroid	ATC	mRNA catabolic process	140/6293	232/18723	5.08e-17	4.65e-15	140
GO:003465525	Thyroid	ATC	nucleobase-containing compound catabolic process	217/6293	407/18723	1.20e-16	1.04e-14	217
GO:004670024	Thyroid	ATC	heterocycle catabolic process	228/6293	445/18723	7.26e-15	4.50e-13	228
GO:007182635	Thyroid	ATC	ribonucleoprotein complex subunit organization	133/6293	227/18723	8.32e-15	5.01e-13	133
GO:002261835	Thyroid	ATC	ribonucleoprotein complex assembly	129/6293	220/18723	1.93e-14	1.10e-12	129
GO:004427025	Thyroid	ATC	cellular nitrogen compound catabolic process	229/6293	451/18723	2.25e-14	1.27e-12	229
GO:000641735	Thyroid	ATC	regulation of translation	236/6293	468/18723	2.39e-14	1.34e-12	236
GO:004802434	Thyroid	ATC	regulation of mRNA splicing, via spliceosome	70/6293	101/18723	2.29e-13	1.09e-11	70
GO:001943924	Thyroid	ATC	aromatic compound catabolic process	232/6293	467/18723	3.05e-13	1.44e-11	232
GO:190136124	Thyroid	ATC	organic cyclic compound catabolic process	238/6293	495/18723	1.12e-11	4.12e-10	238
GO:190331324	Thyroid	ATC	positive regulation of mRNA metabolic process	75/6293	118/18723	2.57e-11	8.84e-10	75
GO:004348725	Thyroid	ATC	regulation of RNA stability	97/6293	170/18723	2.68e-10	7.70e-09	97
GO:006101325	Thyroid	ATC	regulation of mRNA catabolic process	95/6293	166/18723	3.27e-10	9.16e-09	95
GO:004348826	Thyroid	ATC	regulation of mRNA stability	90/6293	158/18723	1.31e-09	3.30e-08	90
GO:000038026	Thyroid	ATC	alternative mRNA splicing, via spliceosome	50/6293	77/18723	1.84e-08	3.65e-07	50

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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

ELF1

SNV

Missense_Mutation

c.151N>G

p.Leu51Val

p.L51V

P32519

protein_coding

deleterious(0)

probably_damaging(0.998)

TCGA-BH-A0B4-01

Breast

breast invasive carcinoma

Male

>=65

III/IV

Hormone Therapy

tamoxiphen

ELF1

SNV

Missense_Mutation

c.1248N>C

p.Gln416His

p.Q416H

P32519

protein_coding

tolerated(0.36)

possibly_damaging(0.759)

TCGA-BH-A0DZ-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

docetaxel

ELF1

SNV

Missense_Mutation

c.133N>G

p.Leu45Val

p.L45V

P32519

protein_coding

deleterious(0.02)

possibly_damaging(0.678)

TCGA-BH-A0H5-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

cytoxan

ELF1

SNV

Missense_Mutation

novel

c.740N>T

p.Ser247Phe

p.S247F

P32519

protein_coding

deleterious(0)

probably_damaging(0.999)

TCGA-BH-A2L8-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

cytoxan

ELF1

SNV

Missense_Mutation

c.1685N>G

p.Thr562Arg

p.T562R

P32519

protein_coding

deleterious(0.04)

benign(0.136)

TCGA-D8-A1XQ-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

ELF1

insertion

Frame_Shift_Ins

novel

c.101_102insT

p.Ile35AsnfsTer9

p.I35Nfs*9

P32519

protein_coding

TCGA-A8-A08L-01

Breast

breast invasive carcinoma

Female

>=65

III/IV

Unknown

ELF1

SNV

Missense_Mutation

rs766946264

c.1472C>T

p.Ala491Val

p.A491V

P32519

protein_coding

tolerated(0.34)

benign(0.011)

TCGA-2W-A8YY-01

Cervix

cervical & endocervical cancer

Female

<65

I/II

Chemotherapy

cisplatin

ELF1

SNV

Missense_Mutation

rs747465409

c.371T>C

p.Ile124Thr

p.I124T

P32519

protein_coding

tolerated(0.05)

benign(0.165)

TCGA-2W-A8YY-01

Cervix

cervical & endocervical cancer

Female

<65

I/II

Chemotherapy

cisplatin

ELF1

SNV

Missense_Mutation

c.1397N>G

p.Phe466Cys

p.F466C

P32519

protein_coding

deleterious(0)

probably_damaging(0.998)

TCGA-FU-A3HZ-01

Cervix

cervical & endocervical cancer

Female

<65

I/II

Chemotherapy

cisplatin

ELF1

SNV

Missense_Mutation

novel

c.700G>A

p.Glu234Lys

p.E234K

P32519

protein_coding

deleterious(0)

probably_damaging(0.962)

TCGA-HM-A4S6-01

Cervix

cervical & endocervical cancer

Female

<65

III/IV

Chemotherapy

cisplatin

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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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