ConVarT

Syngr1 (GeneID: 20972) | Mus musculus

Description:	synaptogyrin 1 [Source:MGI Symbol;Acc:MGI:1328323]
Synonyms:	p29, Syngr1b, R75468
Other ID(s):	ENSMUSG00000022415, MGI:1328323
Protein Accession Numbers:	NP_997591, XP_030104300, NP_033329, XP_006520758
Statistics:	COSMIC(160) PTM(3)

Post translational modifications (PTM) by Type

Phosphorylation

Ubiquitination

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000216155 ENST00000318801 ENST00000328933 You are here now! ENST00000381535 ENST00000406293 ENST00000415332 NP_004702 You are here now! NP_663783 NP_663791

Amino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)

Total amino acid identity (%)

Variation associated amino acid identity (%)

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

PreviousNext

Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
SYNGR1	O43759	Ubiquitination	10	K10-ub	GGAYGAGkAGGAFDP	25.46	22253159
SYNGR1	O43759	Phosphorylation	18	Y18-p	AGGAFDPyTLVRQPH	25.46	55368334
SYNGR1	O43759	Phosphorylation	26	T26-p	TLVRQPHtILRVVSW	25.46	23150159

Showing 1 to 3 of 3 entries

Previous1Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
SYNGR1	ENST00000328933	TCGA-CR-7398-01	upper_aerodigestive_tract	carcinoma	27968495	c.576C>A	p.S192=	Substitution - coding silent	PATHOGENIC	.78674	Confirmed somatic variant	PMID: N/A	NS	192
SYNGR1	ENST00000328933	J32_T	lung	carcinoma	27968682	c.*530C>T	p.?	Unknown	NEUTRAL	.02	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	PCSI_0468_Pa_P_526	pancreas	carcinoma	27967965	c.*3525C>A	p.?	Unknown	NEUTRAL	.25444	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	BD54T	biliary_tract	carcinoma	27967387	c.483+27C>A	p.?	Unknown	NEUTRAL	.08283	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	TCGA-EE-A3AG-06	skin	malignant_melanoma	27967887	c.338-91C>T	p.?	Unknown	NEUTRAL	.00312	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	8066067	pancreas	carcinoma	27967793	c.338-249G>T	p.?	Unknown	NEUTRAL	.04574	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	27968514	c.186C>A	p.N62K	Substitution - Missense	PATHOGENIC	.9706	Confirmed somatic variant	PMID: 23856246	primary	62
SYNGR1	ENST00000328933	RK054_C01	liver	carcinoma	27967268	c.484-2498A>T	p.?	Unknown	NEUTRAL	.03131	Variant of unknown origin	PMID: N/A	primary	0
SYNGR1	ENST00000328933	RK107_C01	liver	carcinoma	27968927	c.484-450C>G	p.?	Unknown	NEUTRAL	.03339	Variant of unknown origin	PMID: N/A	primary	0
SYNGR1	ENST00000328933	LICA-CN-HCC_WGS_016T	liver	other	27967914	c.100-8061C>T	p.?	Unknown	NEUTRAL	.0027	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	LICA-CN-HCC_WGS_016T	liver	other	27967910	c.99+8371A>T	p.?	Unknown	NEUTRAL	.00279	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	8066067	pancreas	carcinoma	27967786	c.100-4589G>A	p.?	Unknown	NEUTRAL	.00895	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	PD13625a	breast	carcinoma	27967824	c.100-11281T>C	p.?	Unknown	NEUTRAL	.01696	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	CAL33	upper_aerodigestive_tract	carcinoma	27967189	c.607_608insACA	p.P202_T203insN	Insertion - In frame			Reported in another cancer sample as somatic	PMID: 25275298	NS	202
SYNGR1	ENST00000328933	PD14468a	breast	carcinoma	27967213	c.484-2051_484-2050dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	2014_Lung_sq_102_T	lung	carcinoma	27968559	c.*89C>T	p.?	Unknown	NEUTRAL	.03478	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1	ENST00000328933	8052570	pancreas	carcinoma	27967860	c.99+4903G>A	p.?	Unknown	NEUTRAL	.00673	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	1653408	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	27967355	c.100-10554C>T	p.?	Unknown	NEUTRAL	.03157	Confirmed somatic variant	PMID: 22158538	NS	0
SYNGR1	ENST00000328933	tumor_4177376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	27967744	c.99+680C>G	p.?	Unknown	NEUTRAL	.00283	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1	ENST00000328933	PCSI_0099_Pa_P	pancreas	carcinoma	27968059	c.100-11554G>A	p.?	Unknown	NEUTRAL	.01475	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 160 entries

Previous1 2 3 4 5…8Next

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF01284	MARVEL	Membrane-associating domain	20-167	CL0396	Marvel-like	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Bipolar Disorder	Mental Disorders ;	0.743	0.241
Leukemia, Myelocytic, Acute	Neoplasms ;	0.743	0.241
Lupus Erythematosus, Systemic	Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.743	0.241
Acute Myeloid Leukemia, M1	Neoplasms ;	0.743	0.241
Schizophrenia	Mental Disorders ;	0.743	0.241
Libman-Sacks Disease	Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.743	0.241
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.743	0.241
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data