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: AAK1

Gene summary for AAK1

Gene summary.

Gene information	Species	Human
	Gene symbol	AAK1
	Gene ID	22848
	Gene name	AP2 associated kinase 1
	Gene Alias	AAK1
	Cytomap	2p13.3
	Gene Type	protein-coding
	GO ID	GO:0006464
	UniProtAcc	Q2M2I8

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
22848	AAK1	GSM4909282	Human	Breast	IDC	3.16e-08	2.89e-01	-0.0288
22848	AAK1	GSM4909311	Human	Breast	IDC	5.38e-06	-1.17e-01	0.1534
22848	AAK1	GSM4909319	Human	Breast	IDC	5.73e-07	-8.38e-02	0.1563
22848	AAK1	M1	Human	Breast	IDC	4.16e-20	5.73e-01	0.1577
22848	AAK1	NCCBC14	Human	Breast	DCIS	4.73e-02	1.05e-01	0.2021
22848	AAK1	NCCBC3	Human	Breast	DCIS	2.50e-03	1.51e-01	0.1198
22848	AAK1	P1	Human	Breast	IDC	1.29e-18	5.89e-01	0.1527
22848	AAK1	DCIS2	Human	Breast	DCIS	3.91e-36	1.37e-01	0.0085
22848	AAK1	HTA11_347_2000001011	Human	Colorectum	AD	1.30e-05	4.30e-01	-0.1954
22848	AAK1	HTA11_411_2000001011	Human	Colorectum	SER	2.19e-03	7.48e-01	-0.2602
22848	AAK1	A015-C-203	Human	Colorectum	FAP	2.09e-10	-2.87e-01	-0.1294
22848	AAK1	A002-C-201	Human	Colorectum	FAP	3.08e-04	-2.62e-01	0.0324
22848	AAK1	A001-C-108	Human	Colorectum	FAP	7.61e-04	-1.80e-01	-0.0272
22848	AAK1	A002-C-205	Human	Colorectum	FAP	1.49e-06	-1.93e-01	-0.1236
22848	AAK1	A015-C-006	Human	Colorectum	FAP	1.49e-03	-2.51e-01	-0.0994
22848	AAK1	A015-C-106	Human	Colorectum	FAP	3.87e-04	-1.80e-01	-0.0511
22848	AAK1	A002-C-114	Human	Colorectum	FAP	1.96e-04	-1.76e-01	-0.1561
22848	AAK1	A015-C-104	Human	Colorectum	FAP	9.44e-11	-2.60e-01	-0.1899
22848	AAK1	A001-C-014	Human	Colorectum	FAP	4.46e-03	-1.51e-01	0.0135
22848	AAK1	A002-C-016	Human	Colorectum	FAP	4.32e-10	-2.26e-01	0.0521

Page: 1 2 3 4 5 6 7 8 9

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
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
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.

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:003164714	Breast	IDC	regulation of protein stability	50/1434	298/18723	1.14e-07	6.57e-06	50
GO:005082114	Breast	IDC	protein stabilization	35/1434	191/18723	1.12e-06	5.04e-05	35
GO:000689813	Breast	IDC	receptor-mediated endocytosis	35/1434	244/18723	2.38e-04	3.75e-03	35
GO:00301007	Breast	IDC	regulation of endocytosis	27/1434	211/18723	5.92e-03	4.26e-02	27
GO:003164724	Breast	DCIS	regulation of protein stability	51/1390	298/18723	1.63e-08	1.15e-06	51
GO:005082124	Breast	DCIS	protein stabilization	36/1390	191/18723	1.82e-07	9.14e-06	36
GO:000689823	Breast	DCIS	receptor-mediated endocytosis	35/1390	244/18723	1.31e-04	2.25e-03	35
GO:00482596	Breast	DCIS	regulation of receptor-mediated endocytosis	16/1390	110/18723	7.16e-03	4.85e-02	16
GO:0031647	Colorectum	AD	regulation of protein stability	108/3918	298/18723	6.33e-10	5.08e-08	108
GO:0050821	Colorectum	AD	protein stabilization	73/3918	191/18723	3.02e-08	1.64e-06	73
GO:0072583	Colorectum	AD	clathrin-dependent endocytosis	24/3918	47/18723	4.60e-06	1.22e-04	24
GO:0046777	Colorectum	AD	protein autophosphorylation	74/3918	227/18723	2.48e-05	4.76e-04	74
GO:0006898	Colorectum	AD	receptor-mediated endocytosis	76/3918	244/18723	1.07e-04	1.59e-03	76
GO:0030100	Colorectum	AD	regulation of endocytosis	67/3918	211/18723	1.42e-04	2.01e-03	67
GO:0048259	Colorectum	AD	regulation of receptor-mediated endocytosis	35/3918	110/18723	4.85e-03	3.27e-02	35
GO:0007219	Colorectum	AD	Notch signaling pathway	50/3918	172/18723	6.92e-03	4.26e-02	50
GO:00316471	Colorectum	SER	regulation of protein stability	86/2897	298/18723	2.56e-09	2.42e-07	86
GO:00508211	Colorectum	SER	protein stabilization	58/2897	191/18723	1.46e-07	8.59e-06	58
GO:00467771	Colorectum	SER	protein autophosphorylation	60/2897	227/18723	1.36e-05	4.25e-04	60
GO:00301001	Colorectum	SER	regulation of endocytosis	48/2897	211/18723	3.29e-03	2.82e-02	48

Page: 1 2 3 4 5 6 7 8

Enriched KEGG pathways.

Pathway ID

Tissue

Disease Stage

Description

Gene Ratio

Bg Ratio

pvalue

p.adjust

qvalue

Count

Page: 1

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

AAK1

SNV

Missense_Mutation

novel

c.2879N>C

p.Asp960Ala

p.D960A

Q2M2I8

protein_coding

deleterious(0)

probably_damaging(0.994)

TCGA-A8-A096-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

AAK1

SNV

Missense_Mutation

c.2608N>G

p.Leu870Val

p.L870V

Q2M2I8

protein_coding

deleterious(0.01)

probably_damaging(0.978)

TCGA-AC-A23H-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

AAK1

SNV

Missense_Mutation

novel

c.842N>A

p.Arg281Gln

p.R281Q

Q2M2I8

protein_coding

deleterious(0.01)

probably_damaging(0.994)

TCGA-AN-A046-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

AAK1

SNV

Missense_Mutation

novel

c.2488G>C

p.Glu830Gln

p.E830Q

Q2M2I8

protein_coding

tolerated(0.07)

probably_damaging(0.932)

TCGA-AR-A2LE-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Hormone Therapy

tamoxiphen

AAK1

SNV

Missense_Mutation

rs367891079

c.2729C>T

p.Ser910Leu

p.S910L

Q2M2I8

protein_coding

tolerated(0.09)

benign(0)

TCGA-BH-A18G-01

Breast

breast invasive carcinoma

Female

>=65

I/II

Unknown

AAK1

SNV

Missense_Mutation

c.92G>A

p.Gly31Asp

p.G31D

Q2M2I8

protein_coding

deleterious(0)

probably_damaging(0.998)

TCGA-D8-A140-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin+cyclophosphamid

AAK1

SNV

Missense_Mutation

c.674N>G

p.Tyr225Cys

p.Y225C

Q2M2I8

protein_coding

deleterious(0)

probably_damaging(0.999)

TCGA-D8-A1XK-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicine+cyclophosphamide

AAK1

insertion

Nonsense_Mutation

novel

c.2468_2469insTCTCCCACCCCTTATTAAATTAAGCATTCTGGCCAGTTAGTG

p.Glu823delinsAspLeuProProLeuIleLysLeuSerIleLeuAlaSerTerTer

p.E823delinsDLPPLIKLSILAS**

Q2M2I8

protein_coding

TCGA-A2-A0EX-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

tamoxiphen

AAK1

deletion

Frame_Shift_Del

novel

c.1239delC

p.Ser414ValfsTer114

p.S414Vfs*114

Q2M2I8

protein_coding

TCGA-D8-A27V-01

Breast

breast invasive carcinoma

Female

<65

I/II

Hormone Therapy

tamoxiphen

AAK1

insertion

Nonsense_Mutation

novel

c.64_65insCTTAAGTTGAGTTTGAATTTGTGGCTC

p.Gly22delinsAlaTerValGluPheGluPheValAlaArg

p.G22delinsA*VEFEFVAR

Q2M2I8

protein_coding

TCGA-E9-A1NC-01

Breast

breast invasive carcinoma

Female

<65

I/II

Chemotherapy

doxorubicin

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
22848	AAK1	DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, ENZYME	inhibitor	223366123	BARICITINIB
22848	AAK1	DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, ENZYME	inhibitor	384403682
22848	AAK1	DRUGGABLE GENOME, SERINE THREONINE KINASE, KINASE, ENZYME		LX9211

Page: 1