ConVarT

SYNGR1 (GeneID: 100427479) | Macaca mulatta

Description:	synaptogyrin 1 [Source:NCBI gene;Acc:100427479]
Synonyms:
Other ID(s):	ENSMMUG00000012101
Protein Accession Numbers:	XP_015005790, XP_015005789, NP_001253483
Statistics:	COSMIC(64) 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 ENST00000381535 You are here now! ENST00000406293 ENST00000415332 NP_004702 NP_663783 NP_663791 You are here now!

ClinVar Data

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

gnomAD

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

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

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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

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Unknown

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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_ENST00000381535	ENST00000381535	TCGA-EE-A3AG-06	skin	malignant_melanoma	42161868	c.341-91C>T	p.?	Unknown	NEUTRAL	.00312	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1_ENST00000381535	ENST00000381535	BD54T	biliary_tract	carcinoma	42161225	c.486+27C>A	p.?	Unknown	NEUTRAL	.08283	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1_ENST00000381535	ENST00000381535	8066067	pancreas	carcinoma	42161661	c.341-249G>T	p.?	Unknown	NEUTRAL	.04574	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1_ENST00000381535	ENST00000381535	MOLT-4	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	42162607	c.189C>A	p.N63K	Substitution - Missense	PATHOGENIC	.9706	Confirmed somatic variant	PMID: 23856246	primary	63
SYNGR1_ENST00000381535	ENST00000381535	8066067	pancreas	carcinoma	42161653	c.103-4589G>A	p.?	Unknown	NEUTRAL	.00895	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1_ENST00000381535	ENST00000381535	LICA-CN-HCC_WGS_016T	liver	other	42161900	c.102+1959C>T	p.?	Unknown	NEUTRAL	.0027	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1_ENST00000381535	ENST00000381535	07-P075	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	42162718	c.187A>C	p.N63H	Substitution - Missense	PATHOGENIC	.97715	Variant of unknown origin	PMID: 25186949	NS	63
SYNGR1_ENST00000381535	ENST00000381535	CHG-89T	liver	other	42162701	c.103-22G>T	p.?	Unknown	NEUTRAL	.02786	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1_ENST00000381535	ENST00000381535	T112	large_intestine	carcinoma	42161445	c.439G>A	p.A147T	Substitution - Missense	PATHOGENIC	.97589	Confirmed somatic variant	PMID: 27149842	NS	147
SYNGR1_ENST00000381535	ENST00000381535	I2L-P24Ta-Tumor-Organoid	large_intestine	carcinoma	42161848	c.340+39A>G	p.?	Unknown	NEUTRAL	.00009	Confirmed somatic variant	PMID: 25957691	NS	0
SYNGR1_ENST00000381535	ENST00000381535	TCGA-AP-A1E0-01	endometrium	carcinoma	42162776	c.191G>A	p.R64H	Substitution - Missense	PATHOGENIC	.93176	Confirmed somatic variant	PMID: N/A	NS	64
SYNGR1_ENST00000381535	ENST00000381535	T3417	large_intestine	carcinoma	42162367	c.464C>T	p.S155F	Substitution - Missense	PATHOGENIC	.96429	Confirmed somatic variant	PMID: 27149842	NS	155
SYNGR1_ENST00000381535	ENST00000381535	T497	large_intestine	carcinoma	42162801	c.507C>T	p.A169=	Substitution - coding silent	PATHOGENIC	.82132	Confirmed somatic variant	PMID: 27149842	NS	169
SYNGR1_ENST00000381535	ENST00000381535	2014_Lung_sq_10_T	lung	carcinoma	42161498	c.487-604C>G	p.?	Unknown	NEUTRAL	.00918	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1_ENST00000381535	ENST00000381535	TCGA-GN-A263-01	skin	malignant_melanoma	42161415	c.279C>T	p.F93=	Substitution - coding silent	PATHOGENIC	.85803	Confirmed somatic variant	PMID: N/A	NS	93
SYNGR1_ENST00000381535	ENST00000381535	LICA-CN-HCC_WGS_012T	liver	other	42161197	c.102+3936A>G	p.?	Unknown	NEUTRAL	.00077	Confirmed somatic variant	PMID: N/A	primary	0
SYNGR1_ENST00000381535	ENST00000381535	MSU1-a	large_intestine	adenoma	42162621	c.575C>T	p.P192L	Substitution - Missense		.62123	Confirmed somatic variant	PMID: 26336987	primary	192
SYNGR1_ENST00000381535	ENST00000381535	TCGA-AD-6895-01	large_intestine	carcinoma	42162728	c.-13C>T	p.?	Unknown	NEUTRAL	.01215	Confirmed somatic variant	PMID: N/A	NS	0
SYNGR1_ENST00000381535	ENST00000381535	TCGA-CG-4442-01	stomach	carcinoma	42163069	c.446G>A	p.R149Q	Substitution - Missense	PATHOGENIC	.99119	Confirmed somatic variant	PMID: N/A	NS	149
SYNGR1_ENST00000381535	ENST00000381535	TCGA-EB-A5UM-01	skin	malignant_melanoma	42161481	c.132C>T	p.I44=	Substitution - coding silent	NEUTRAL	.09534	Confirmed somatic variant	PMID: N/A	NS	44

Showing 1 to 20 of 64 entries

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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