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: TMBIM6

Gene summary for TMBIM6

Gene summary.

Gene information	Species	Human
	Gene symbol	TMBIM6
	Gene ID	7009
	Gene name	transmembrane BAX inhibitor motif containing 6
	Gene Alias	BAXI1
	Cytomap	12q13.12
	Gene Type	protein-coding
	GO ID	GO:0000122
	UniProtAcc	P55061

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
7009	TMBIM6	GSM4909280	Human	Breast	Precancer	1.29e-07	-8.90e-01	0.0305
7009	TMBIM6	GSM4909281	Human	Breast	IDC	1.53e-06	-2.34e-01	0.21
7009	TMBIM6	GSM4909282	Human	Breast	IDC	9.95e-20	-4.93e-01	-0.0288
7009	TMBIM6	GSM4909285	Human	Breast	IDC	3.54e-06	-1.27e-01	0.21
7009	TMBIM6	GSM4909286	Human	Breast	IDC	5.55e-33	-5.97e-01	0.1081
7009	TMBIM6	GSM4909287	Human	Breast	IDC	5.22e-19	-6.25e-01	0.2057
7009	TMBIM6	GSM4909288	Human	Breast	IDC	1.89e-03	-4.27e-01	0.0988
7009	TMBIM6	GSM4909290	Human	Breast	IDC	5.50e-04	-3.51e-01	0.2096
7009	TMBIM6	GSM4909293	Human	Breast	IDC	4.77e-05	-1.58e-01	0.1581
7009	TMBIM6	GSM4909294	Human	Breast	IDC	3.54e-20	-5.40e-01	0.2022
7009	TMBIM6	GSM4909295	Human	Breast	IDC	1.88e-05	-4.91e-01	0.0898
7009	TMBIM6	GSM4909296	Human	Breast	IDC	1.65e-12	-3.53e-01	0.1524
7009	TMBIM6	GSM4909297	Human	Breast	IDC	3.15e-21	-5.33e-01	0.1517
7009	TMBIM6	GSM4909298	Human	Breast	IDC	6.27e-03	-6.25e-02	0.1551
7009	TMBIM6	GSM4909299	Human	Breast	IDC	2.09e-02	-2.49e-01	0.035
7009	TMBIM6	GSM4909305	Human	Breast	IDC	3.74e-02	-2.64e-01	0.0436
7009	TMBIM6	GSM4909307	Human	Breast	IDC	5.44e-04	-3.25e-01	0.1569
7009	TMBIM6	GSM4909308	Human	Breast	IDC	1.71e-02	-1.51e-01	0.158
7009	TMBIM6	GSM4909309	Human	Breast	IDC	1.07e-02	-2.46e-01	0.0483
7009	TMBIM6	GSM4909311	Human	Breast	IDC	1.02e-44	-5.39e-01	0.1534

Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19

Transcriptomic changes along malignancy continuum.

Tissue	Expression Dynamics	Abbreviation
Breast		IDC: Invasive ductal carcinoma
		DCIS: Ductal carcinoma in situ
		Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers
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
GC		CAG: Chronic atrophic gastritis
		CAG with IM: Chronic atrophic gastritis with intestinal metaplasia
		CSG: Chronic superficial gastritis
		GC: Gastric cancer
		SIM: Severe intestinal metaplasia
		WIM: Wild intestinal metaplasia
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.

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:00704825	Stomach	SIM	response to oxygen levels	28/708	347/18723	1.45e-04	3.25e-03	28
GO:19058975	Stomach	SIM	regulation of response to endoplasmic reticulum stress	11/708	82/18723	2.54e-04	4.96e-03	11
GO:00026835	Stomach	SIM	negative regulation of immune system process	32/708	434/18723	2.63e-04	5.10e-03	32
GO:003311951	Stomach	SIM	negative regulation of RNA splicing	6/708	25/18723	2.74e-04	5.21e-03	6
GO:004348451	Stomach	SIM	regulation of RNA splicing	15/708	148/18723	4.97e-04	8.08e-03	15
GO:00011012	Stomach	SIM	response to acid chemical	14/708	135/18723	6.01e-04	9.14e-03	14
GO:00362944	Stomach	SIM	cellular response to decreased oxygen levels	14/708	161/18723	3.24e-03	3.08e-02	14
GO:00511004	Stomach	SIM	negative regulation of binding	14/708	162/18723	3.43e-03	3.23e-02	14
GO:00432001	Stomach	SIM	response to amino acid	11/708	116/18723	4.50e-03	3.94e-02	11
GO:19022365	Stomach	SIM	negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	4/708	20/18723	6.06e-03	4.83e-02	4
GO:004348430	Thyroid	HT	regulation of RNA splicing	46/1272	148/18723	4.82e-19	6.71e-16	46
GO:000838028	Thyroid	HT	RNA splicing	84/1272	434/18723	1.23e-18	1.14e-15	84
GO:200123330	Thyroid	HT	regulation of apoptotic signaling pathway	63/1272	356/18723	1.87e-12	4.01e-10	63
GO:000698627	Thyroid	HT	response to unfolded protein	34/1272	137/18723	2.36e-11	3.75e-09	34
GO:200124230	Thyroid	HT	regulation of intrinsic apoptotic signaling pathway	37/1272	164/18723	6.39e-11	9.11e-09	37
GO:009719330	Thyroid	HT	intrinsic apoptotic signaling pathway	52/1272	288/18723	7.65e-11	1.06e-08	52
GO:003596627	Thyroid	HT	response to topologically incorrect protein	35/1272	159/18723	4.27e-10	4.95e-08	35
GO:005109828	Thyroid	HT	regulation of binding	56/1272	363/18723	6.41e-09	5.75e-07	56
GO:004361828	Thyroid	HT	regulation of transcription from RNA polymerase II promoter in response to stress	16/1272	47/18723	3.77e-08	2.65e-06	16
GO:004362029	Thyroid	HT	regulation of DNA-templated transcription in response to stress	17/1272	53/18723	3.90e-08	2.65e-06	17

Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60

Enriched KEGG pathways.

Pathway ID	Tissue	Disease Stage	Description	Gene Ratio	Bg Ratio	pvalue	p.adjust	qvalue	Count
hsa0513018	Breast	Precancer	Pathogenic Escherichia coli infection	38/684	197/8465	3.12e-07	5.81e-06	4.45e-06	38
hsa0513019	Breast	Precancer	Pathogenic Escherichia coli infection	38/684	197/8465	3.12e-07	5.81e-06	4.45e-06	38
hsa0513024	Breast	IDC	Pathogenic Escherichia coli infection	42/867	197/8465	2.66e-06	3.92e-05	2.94e-05	42
hsa0513034	Breast	IDC	Pathogenic Escherichia coli infection	42/867	197/8465	2.66e-06	3.92e-05	2.94e-05	42
hsa0513043	Breast	DCIS	Pathogenic Escherichia coli infection	42/846	197/8465	1.40e-06	2.15e-05	1.59e-05	42
hsa0513053	Breast	DCIS	Pathogenic Escherichia coli infection	42/846	197/8465	1.40e-06	2.15e-05	1.59e-05	42
hsa0513020	Cervix	CC	Pathogenic Escherichia coli infection	63/1267	197/8465	9.28e-10	2.00e-08	1.19e-08	63
hsa05130110	Cervix	CC	Pathogenic Escherichia coli infection	63/1267	197/8465	9.28e-10	2.00e-08	1.19e-08	63
hsa0513044	Cervix	N_HPV	Pathogenic Escherichia coli infection	25/349	197/8465	4.71e-07	8.00e-06	6.25e-06	25
hsa0513054	Cervix	N_HPV	Pathogenic Escherichia coli infection	25/349	197/8465	4.71e-07	8.00e-06	6.25e-06	25
hsa05130	Colorectum	AD	Pathogenic Escherichia coli infection	79/2092	197/8465	1.05e-06	1.36e-05	8.65e-06	79
hsa051301	Colorectum	AD	Pathogenic Escherichia coli infection	79/2092	197/8465	1.05e-06	1.36e-05	8.65e-06	79
hsa051302	Colorectum	SER	Pathogenic Escherichia coli infection	60/1580	197/8465	3.63e-05	4.31e-04	3.13e-04	60
hsa051303	Colorectum	SER	Pathogenic Escherichia coli infection	60/1580	197/8465	3.63e-05	4.31e-04	3.13e-04	60
hsa051304	Colorectum	MSS	Pathogenic Escherichia coli infection	73/1875	197/8465	1.10e-06	1.48e-05	9.06e-06	73
hsa051305	Colorectum	MSS	Pathogenic Escherichia coli infection	73/1875	197/8465	1.10e-06	1.48e-05	9.06e-06	73
hsa051306	Colorectum	MSI-H	Pathogenic Escherichia coli infection	31/797	197/8465	2.90e-03	2.93e-02	2.46e-02	31
hsa051307	Colorectum	MSI-H	Pathogenic Escherichia coli infection	31/797	197/8465	2.90e-03	2.93e-02	2.46e-02	31
hsa051308	Colorectum	FAP	Pathogenic Escherichia coli infection	62/1404	197/8465	1.37e-07	3.08e-06	1.87e-06	62
hsa051309	Colorectum	FAP	Pathogenic Escherichia coli infection	62/1404	197/8465	1.37e-07	3.08e-06	1.87e-06	62

Page: 1 2 3 4

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

TMBIM6

SNV

Missense_Mutation

novel

c.104G>T

p.Arg35Leu

p.R35L

P55061

protein_coding

tolerated_low_confidence(0.08)

benign(0.001)

TCGA-A7-A0DB-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

arimidex

TMBIM6

deletion

Frame_Shift_Del

novel

c.702delN

p.Gly235AspfsTer36

p.G235Dfs*36

P55061

protein_coding

TCGA-D8-A27V-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

tamoxiphen

TMBIM6

SNV

Missense_Mutation

c.35N>T

p.Gln12Leu

p.Q12L

P55061

protein_coding

deleterious_low_confidence(0)

benign(0)

TCGA-AZ-5407-01

Colorectum

colon adenocarcinoma

Female

<65

I/II

Unknown

TMBIM6

SNV

Missense_Mutation

c.728N>A

p.Val243Asp

p.V243D

P55061

protein_coding

deleterious(0)

probably_damaging(0.989)

TCGA-D5-6928-01

Colorectum

colon adenocarcinoma

Male

>=65

I/II

Unknown

TMBIM6

SNV

Missense_Mutation

c.185T>C

p.Phe62Ser

p.F62S

P55061

protein_coding

deleterious(0)

possibly_damaging(0.677)

TCGA-D5-7000-01

Colorectum

colon adenocarcinoma

Female

>=65

I/II

Unknown

TMBIM6

SNV

Missense_Mutation

novel

c.675N>G

p.Ile225Met

p.I225M

P55061

protein_coding

tolerated(0.23)

benign(0.012)

TCGA-AJ-A3EL-01

Endometrium

uterine corpus endometrioid carcinoma

Female

<65

I/II

Unknown

TMBIM6

SNV

Missense_Mutation

novel

c.497N>A

p.Ala166Asp

p.A166D

P55061

protein_coding

tolerated(0.53)

benign(0.007)

TCGA-AX-A1CE-01

Endometrium

uterine corpus endometrioid carcinoma

Female

<65

I/II

Unspecific

Paclitaxel

TMBIM6

SNV

Missense_Mutation

c.521N>T

p.Thr174Ile

p.T174I

P55061

protein_coding

deleterious(0)

probably_damaging(0.992)

TCGA-B5-A11E-01

Endometrium

uterine corpus endometrioid carcinoma

Female

<65

I/II

Unknown

TMBIM6

insertion

Frame_Shift_Ins

novel

c.731_732insA

p.Asp246Ter

p.D246*

P55061

protein_coding

TCGA-A5-A0R9-01

Endometrium

uterine corpus endometrioid carcinoma

Female

<65

I/II

Unknown

TMBIM6

insertion

Nonsense_Mutation

novel

c.732_733insGAAGGATAATGGGAAGGC

p.Leu244_Phe245insGluGlyTerTrpGluGly

p.L244_F245insEG*WEG

P55061

protein_coding

TCGA-A5-A0R9-01

Endometrium

uterine corpus endometrioid carcinoma

Female

<65

I/II

Unknown

Page: 1 2 3

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