CanProVar 2.0:Human Cancer Proteome Variation Database

ID you entered: ENSP00000252288

Ensembl protein: ENSP00000252288

Protein sequence

Name: GAMT

Description: guanidinoacetate N-methyltransferase [Source:HGNC Symbol;Acc:HGNC:4136]

Location:

chr19 p13.3

Gene Ontology:

Biological process

Molecular function

Cellular localization

Interactions:

Interaction partner with cancer_related variations : ( pvalue=0.379559, hypergeometric test )

Interaction partner with cancer related differentially expressed proteins : ( pvalue=0.3951, hypergeometric test )

Cancer-related variations in CanProVar:

NO.	csID	variation	change conservation⁺	Domain	cancer name	PubMed	data source⁺⁺	validated dbSNP*	interface
1	cs53397	D135E	2		Head and Neck Cancer	21798893	COSMIC

⁺Conservation of amino acid substitutions are defined here according to the BLOSUM62 matrix, conservative changes were those having a positive or neutral sign in the matrix, whereas non-conservative changes were those having a negative value (Cargill, et al. 1999).
⁺⁺Data sources: HPI, COSMIC, OMIM, TCGA, BIOMART, Greenman2007, Sjoblom2006, Ding2008
*Cross-reference databases: dbSNP
Interface information was collected from Wang 2012

Non-cancer specific variations derived from database dbSNP:

NO.	dbSNP_ID	variation	validated
1	rs80338734	W20S	Cluster
2	rs104894694	M50L	Cluster
3	rs150338273	S76L	Cluster,1000Genome
4	rs200052696	R98Q	1000Genome
5	rs148838075	R105Q	Frequency
6	rs1050914	V165F	Cluster
7	rs147739199	V194A	Frequency
8	rs17851582	T209M	Cluster,Frequency,1000Genome
9	rs139890971	P217Q	Cluster
10	rs150817761	D219N	Frequency
11	rs141471799	A224T	Frequency

Cancer-related differential expression proteins derived from database dbDEPC:

NO.	dbDEPC_ID	change	ratio	cancer name	design	sample_control	sample_case	sample	pubmed
1	EXP00047		0.1	pancreatic ductal adenocarcinoma	Normal vs. Cancer	adjacent normal tissue	pancreatic ductal adenocarcinoma (PDAC)	tissue	18366394

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