ConVarT

VSIG4 (GeneID: 11326) | Homo sapiens

Description:	V-set and immunoglobulin domain containing 4 [Source:HGNC Symbol;Acc:HGNC:17032]
Synonyms:	CRIg, Z39IG
Other ID(s):	HGNC:17032, ENSG00000155659
Protein Accession Numbers:	ENST00000427538, NP_001244332, NP_001093901, ENST00000412866, NP_001171760, ENST00000455586, ENST00000374737, NP_009199, NP_001171759
Statistics:	ClinVar(3) PTM(9)

ClinVar Pathogenicity of Variations

Benign

VUS

∙ 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.
ENST00000374737 ENST00000412866 ENST00000427538 ENST00000455586 NP_001093901 NP_001171759 NP_001171760 NP_001244332 You are here now! NP_009199

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

Showing 0 to 0 of 0 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
VSIG4	Q9Y279	Phosphorylation	219	S219-p	TAKGQVGsEQHSDIV	43.99	36277223
VSIG4	Q9Y279	Acetylation	235	K235-ac	FVVKDSSkLLKTKTE	43.99	12234885
VSIG4	Q9Y279	Phosphorylation	245	T245-p	KTKTEAPtTMTYPLk	43.99	23072728
VSIG4	Q9Y279	Acetylation	252	K252-ac	tTMTYPLkATSTVKQ	43.99	12234888
VSIG4	Q9Y279	Phosphorylation	317	Y317-p	TSQQEHVyEAARAHA	43.99	9256449
VSIG4	Q9Y279	Phosphorylation	333	T333-p	EANDSGEtMRVAIFA	43.99	23072730
VSIG4	Q9Y279	Phosphorylation	388	Y388-p	LDTVPLDyEFLATEG	43.99	976018
VSIG4	Q9Y279	Phosphorylation	82	Y82-p	DHIQQAKyQGRLHVs	43.99	23072732
VSIG4	Q9Y279	Phosphorylation	89	S89-p	yQGRLHVsHKVPGDV	43.99	23072726

Showing 1 to 9 of 9 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
PF07686	V-set	Immunoglobulin V-set domain	24-136	CL0011	Ig	Homo sapiens
PF13927	Ig_3	Immunoglobulin domain	142-214	CL0011	Ig	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
IGA Glomerulonephritis	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Immune System Diseases ;	0.727	0.345
Leukemia, Myelocytic, Acute	Neoplasms ;	0.727	0.345
Acute Myeloid Leukemia, M1	Neoplasms ;	0.727	0.345
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.727	0.345
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data