ConVarT

RUNX1T1 (GeneID: 862) | Homo sapiens

Description:	RUNX1 translocation partner 1 [Source:HGNC Symbol;Acc:HGNC:1535]
Synonyms:	MYND2, CDR, AML1-MTG8, MTG8, CBFA2T1, ETO, AML1T1
Other ID(s):	HGNC:1535, ENSG00000079102
Protein Accession Numbers:	ENST00000518844, ENST00000520556, ENST00000521553, ENST00000524215, NP_001185561, ENST00000517493, ENST00000519577, ENST00000521054, ENST00000522467, NP_001185558, NP_783552, ENST00000396218, ENST00000518449, ENST00000518992, ENST00000520724, ENST00000521751, NP_001185555, NP_001185563, ENST00000517919, ENST00000518832, ENST00000520428, ENST00000521375, ENST00000523629, NP_001185560, NP_783554, ENST00000436581, ENST00000519422, ENST00000520978, ENST00000521902, NP_001185557, NP_004340, ENST00000360348, ENST00000518361, ENST00000518954, ENST00000520583, ENST00000521733, NP_001185554, NP_001185562, ENST00000517792, ENST00000519847, ENST00000521319, ENST00000523168, NP_001185559, NP_783553, ENST00000422361, ENST00000518823, ENST00000519061, ENST00000520974, ENST00000521897, NP_001185556, NP_001185608, ENST00000265814, ENST00000518317
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.
ENST00000265814 ENST00000360348 ENST00000396218 ENST00000422361 ENST00000436581 ENST00000517493 ENST00000517792 ENST00000517919 ENST00000518317 ENST00000518361 ENST00000518449 ENST00000518823 ENST00000518832 ENST00000518844 ENST00000518954 ENST00000518992 ENST00000519061 ENST00000519422 ENST00000519577 ENST00000519847 ENST00000520428 ENST00000520556 ENST00000520583

import_contactsClinVar Data

                            Variation ID filter_list
                            Allele ID filter_list
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healinggnomAD
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Show  entries

                    Variant ID filter_listTranscript ID filter_listAlteration filter_listAnnotation filter_listAllele C. filter_listAllele N. filter_listAllele F. filter_listrsNumber filter_listFlagsfilter_listFilter filter_list

                    No data available in table

                Showing 0 to 0 of 0 entries
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placePost-translational Modifications (PTMs)

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                            Site +/-7 Aa filter_list
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blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)

                            Gene Name filter_list
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chrome_reader_modedbSNP

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format_align_centerProtein Domains (PFAM)

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                            NO RESULT FOUND
                        
                                NO DOMAINS EXIST
                            
view_listList of the diseases from DisGeNET

                            Disease Name filter_list
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                            DSI* filter_list
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                                    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