ConVarT

Trio (GeneID: 223435) | Mus musculus

Description:	triple functional domain (PTPRF interacting) [Source:MGI Symbol;Acc:MGI:1927230]
Synonyms:	6720464I07Rik, Solo, AA408740
Other ID(s):	ENSMUSG00000022263, MGI:1927230
Protein Accession Numbers:	XP_006520113, XP_030104327, XP_006520115, NP_001074771, XP_036015216, XP_006520117, XP_006520114, XP_036015215, XP_006520116
Statistics:

∙ 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.
ENST00000344135 ENST00000344204 ENST00000509967 ENST00000512070 ENST00000513206 ENST00000537187 NP_009049

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
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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

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
PF00621	RhoGEF	RhoGEF domain	1813-1985			Caenorhabditis elegans
PF00621	RhoGEF	RhoGEF domain	1210-1383			Caenorhabditis elegans
PF07679	I-set	Immunoglobulin I-set domain	2305-2391	CL0011	Ig	Caenorhabditis elegans

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.636	0.517
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.636	0.517
Acute Myeloid Leukemia, M1	Neoplasms ;	0.636	0.517
Precancerous Conditions	Neoplasms ;	0.636	0.517
Metastatic melanoma	N/A	0.636	0.517
Condition, Preneoplastic	Neoplasms ;	0.636	0.517
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.636	0.517
Neurodevelopmental Disorders	Mental Disorders ;	0.636	0.517
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.636	0.517
MENTAL RETARDATION, AUTOSOMAL DOMINANT 44	N/A	0.636	0.517
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data