ConVarT

Runx1t1 (GeneID: 362489) | Rattus norvegicus

Description:	RUNX1 translocation partner 1 [Source:RGD Symbol;Acc:1305490]
Synonyms:	Cbfa2t1
Other ID(s):	ENSRNOG00000005673
Protein Accession Numbers:	XP_008761770, XP_006237963, XP_008761772, XP_006237966, NP_001102127, XP_008761771, XP_006237965, XP_017448958
Statistics:	ClinVar(49) COSMIC(2580) PTM(13)

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.
ENST00000265814 ENST00000360348 ENST00000396218 ENST00000422361 ENST00000436581 ENST00000517493 ENST00000517792 ENST00000517919 ENST00000518317 ENST00000518361 ENST00000518449 ENST00000518823 ENST00000518832 ENST00000518844 ENST00000518954 ENST00000518992 ENST00000519061 ENST00000519422 ENST00000519577 ENST00000519847 ENST00000520428 ENST00000520556 ENST00000520583 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

Showing 0 to 0 of 0 entries

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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
RUNX1T1	Q06455	Phosphorylation	277	S277-p	ISPGQRYsPNNGLSY	67.57	56657030
RUNX1T1	Q06455	Phosphorylation	41	S41-p	KHSTMPDsPVDVKtQ	67.57	18913384
RUNX1T1	Q06455	Phosphorylation	417	S417-p	SSHSRQQsPVNPDPV	67.57	11537529
RUNX1T1	Q06455	Ubiquitination	448	K448-ub	VPEEIWKkAEEAVNE	67.57	603486016
RUNX1T1	Q06455	Ubiquitination	457	K457-ub	EEAVNEVkRQAMtEL	67.57	573767072
RUNX1T1	Q06455	Phosphorylation	462	T462-p	EVkRQAMtELQKAVS	67.57	31083802
RUNX1T1	Q06455	Phosphorylation	47	T47-p	DsPVDVKtQSRLtPP	67.57	15722523
RUNX1T1	Q06455	Phosphorylation	52	T52-p	VKtQSRLtPPtMPPP	67.57	23141092
RUNX1T1	Q06455	Phosphorylation	55	T55-p	QSRLtPPtMPPPPTT	67.57	23141095
RUNX1T1	Q06455	Phosphorylation	590	S590-p	PPAATPRsttPGtPS	67.57	11537526
RUNX1T1	Q06455	Phosphorylation	591	T591-p	PAATPRsttPGtPST	67.57	11537532
RUNX1T1	Q06455	Phosphorylation	592	T592-p	AATPRsttPGtPSTI	67.57	4730830
RUNX1T1	Q06455	Phosphorylation	595	T595-p	PRsttPGtPSTIETT	67.57	4730835

Showing 1 to 13 of 13 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

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
RUNX1T1_ENST00000265814	ENST00000265814	LP6008280-DNA_A02	oesophagus	carcinoma	22052478	c.89-29252G>T	p.?	Unknown	NEUTRAL	.00423	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	LUAD-B02216	lung	carcinoma	22046272	c.1070T>A	p.L357H	Substitution - Missense	PATHOGENIC	.98993	Variant of unknown origin	PMID: 22980975	primary	357
RUNX1T1_ENST00000265814	ENST00000265814	TCGA-51-4079-01	lung	carcinoma	22034348	c.955A>T	p.S319C	Substitution - Missense	PATHOGENIC	.97225	Variant of unknown origin	PMID: N/A	primary	319
RUNX1T1_ENST00000265814	ENST00000265814	HCC87T	liver	carcinoma	22035993	c.741-146C>A	p.?	Unknown	NEUTRAL	.122	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	TCGA-EE-A3AG-06	skin	malignant_melanoma	22038404	c.130G>A	p.D44N	Substitution - Missense	PATHOGENIC	.94095	Confirmed somatic variant	PMID: N/A	NS	44
RUNX1T1_ENST00000265814	ENST00000265814	PD13760a	breast	carcinoma	22034490	c.741-5036G>C	p.?	Unknown	NEUTRAL	.00428	Confirmed somatic variant	PMID: N/A	NS	0
RUNX1T1_ENST00000265814	ENST00000265814	TCGA-CR-7398-01	upper_aerodigestive_tract	carcinoma	22042119	c.972G>A	p.R324=	Substitution - coding silent	PATHOGENIC	.8686	Confirmed somatic variant	PMID: N/A	NS	324
RUNX1T1_ENST00000265814	ENST00000265814	HCC87T	liver	carcinoma	22035985	c.741-145C>A	p.?	Unknown	NEUTRAL	.12327	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	CPCG0240-F1	prostate	carcinoma	22027448	c.558+2614A>T	p.?	Unknown	NEUTRAL	.00417	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	PCSI_0468_Pa_P_526	pancreas	carcinoma	22036021	c.89-4005C>G	p.?	Unknown	NEUTRAL	.02005	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	HCC72T	liver	carcinoma	22030560	c.558+67C>A	p.?	Unknown	PATHOGENIC	.7029	Reported in another cancer sample as somatic	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	RK234_C01	liver	carcinoma	22031818	c.468+1659C>G	p.?	Unknown	NEUTRAL	.01823	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	T_CCA_TH_12	biliary_tract	carcinoma	22029252	c.*1286del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	PD8735a	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	22047916	c.468+1G>A	p.?	Unknown	PATHOGENIC	.99784	Confirmed somatic variant	PMID: 24030381	NS	0
RUNX1T1_ENST00000265814	ENST00000265814	CPCG0240-F1	prostate	carcinoma	22029392	c.740+6219del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	CPCG0240-F1	prostate	carcinoma	22027457	c.*752T>C	p.?	Unknown	NEUTRAL	.00488	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	442-02-5TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	22036031	c.1540-4414T>A	p.?	Unknown	NEUTRAL	.07318	Confirmed somatic variant	PMID: N/A	primary	0
RUNX1T1_ENST00000265814	ENST00000265814	TCGA-D9-A3Z1-06	skin	malignant_melanoma	22031899	c.314C>T	p.S105F	Substitution - Missense	PATHOGENIC	.9894	Confirmed somatic variant	PMID: N/A	NS	105
RUNX1T1_ENST00000265814	ENST00000265814	TCGA-D9-A3Z1-06	skin	malignant_melanoma	22031887	c.449C>T	p.T150I	Substitution - Missense	PATHOGENIC	.97649	Confirmed somatic variant	PMID: N/A	NS	150
RUNX1T1_ENST00000265814	ENST00000265814	T_CCA_TH_12	biliary_tract	carcinoma	22029261	c.1348+419del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 2,580 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
PF01753	zf-MYND	MYND finger	515-551	CL0175	TRASH	Homo sapiens
PF07531	TAFH	NHR1 homology to TAF	122-211			Homo sapiens
PF08788	NHR2	NHR2 domain like	337-403			Homo sapiens

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