ConVarT

Runx1t1 (GeneID: 12395) | Mus musculus

Description:	RUNX1 translocation partner 1 [Source:MGI Symbol;Acc:MGI:104793]
Synonyms:	Cbfa2t1h, MTG8, ETO
Other ID(s):	ENSMUSG00000006586, MGI:104793
Protein Accession Numbers:	XP_030108976, NP_001104497, XP_006537635, XP_006537631, XP_030108979, XP_011248214, NP_001104496, XP_006537634, XP_030108981, NP_033952, XP_030108978, XP_011248213, XP_006537632, XP_030108980
Statistics:	ClinVar(14) COSMIC(3373)

ClinVar Pathogenicity of Variations

Benign

Pathogenic

∙ 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.
ENST00000360348 ENST00000396218 ENST00000422361 ENST00000436581 ENST00000517493 ENST00000517792 ENST00000517919 ENST00000518317 ENST00000518361 ENST00000518449 ENST00000518823 ENST00000518832 ENST00000518844 ENST00000518954 ENST00000518992 ENST00000519061 ENST00000519422 ENST00000519577 ENST00000519847 ENST00000520428 ENST00000520556 ENST00000520583 ">ENST00000265814 You are here now! 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)

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

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

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
RUNX1T1_ENST00000360348	ENST00000360348	RK234_C01	liver	carcinoma	34989246	c.357+1659C>G	p.?	Unknown	NEUTRAL	.01823	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	TCGA-51-4079-01	lung	carcinoma	34992459	c.844A>T	p.S282C	Substitution - Missense	PATHOGENIC	.97225	Variant of unknown origin	PMID: N/A	primary	282
RUNX1T1_ENST00000360348	ENST00000360348	HCC87T	liver	carcinoma	34994510	c.630-146C>A	p.?	Unknown	NEUTRAL	.122	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	HCC87T	liver	carcinoma	34994497	c.630-145C>A	p.?	Unknown	NEUTRAL	.12327	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	TCGA-CR-7398-01	upper_aerodigestive_tract	carcinoma	35001402	c.861G>A	p.R287=	Substitution - coding silent	PATHOGENIC	.8686	Confirmed somatic variant	PMID: N/A	NS	287
RUNX1T1_ENST00000360348	ENST00000360348	PD13760a	breast	carcinoma	34992598	c.630-5036G>C	p.?	Unknown	NEUTRAL	.00428	Confirmed somatic variant	PMID: N/A	NS	0
RUNX1T1_ENST00000360348	ENST00000360348	HCC72T	liver	carcinoma	34987789	c.447+67C>A	p.?	Unknown	PATHOGENIC	.7029	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	LUAD-B02216	lung	carcinoma	35005895	c.959T>A	p.L320H	Substitution - Missense	PATHOGENIC	.98993	Variant of unknown origin	PMID: 22980975	primary	320
RUNX1T1_ENST00000360348	ENST00000360348	CPCG0240-F1	prostate	carcinoma	34982853	c.447+2614A>T	p.?	Unknown	NEUTRAL	.00417	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	J32_T	lung	carcinoma	35004271	c.1428+4227G>C	p.?	Unknown	NEUTRAL	.00892	Confirmed somatic variant	PMID: N/A	NS	0
RUNX1T1_ENST00000360348	ENST00000360348	PD8735a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	35007602	c.357+1G>A	p.?	Unknown	PATHOGENIC	.99784	Confirmed somatic variant	PMID: 24030381	NS	0
RUNX1T1_ENST00000360348	ENST00000360348	T_CCA_TH_12	biliary_tract	carcinoma	34985889	c.1237+419del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	CPCG0240-F1	prostate	carcinoma	34986091	c.629+6219del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	LP6008280-DNA_A02	oesophagus	carcinoma	35012223	c.-24+24308G>A	p.?	Unknown	NEUTRAL	.01657	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	34994554	c.1429-4414T>A	p.?	Unknown	NEUTRAL	.07318	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	PCSI_0468_Pa_P_526	pancreas	carcinoma	34994544	c.-23-4005C>G	p.?	Unknown	NEUTRAL	.02005	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000360348	ENST00000360348	YUDIALE	skin	malignant_melanoma	34984620	c.1048G>A	p.E350K	Substitution - Missense	PATHOGENIC	.99237	Confirmed somatic variant	PMID: 22842228	NS	350
RUNX1T1_ENST00000360348	ENST00000360348	8058336	pancreas	carcinoma	34991774	c.630-4332T>G	p.?	Unknown	NEUTRAL	.01571	Confirmed somatic variant	PMID: N/A	NS	0
RUNX1T1_ENST00000360348	ENST00000360348	TCGA-D9-A3Z1-06	skin	malignant_melanoma	34989360	c.338C>T	p.T113I	Substitution - Missense	PATHOGENIC	.97649	Confirmed somatic variant	PMID: N/A	NS	113
RUNX1T1_ENST00000360348	ENST00000360348	TCGA-D9-A3Z1-06	skin	malignant_melanoma	34989379	c.203C>T	p.S68F	Substitution - Missense	PATHOGENIC	.9894	Confirmed somatic variant	PMID: N/A	NS	68

Showing 1 to 20 of 3,373 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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.567	0.759
Acute Myeloid Leukemia, M1	Neoplasms ;	0.567	0.759
Small cell carcinoma of lung	Neoplasms ; Respiratory Tract Diseases ;	0.567	0.759
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.567	0.759
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.567	0.759
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data