Description
runt-related transcription factor 1 [Source:HGNC Symbol;Acc:10471]
Gene Synonyms
AML1, AML1-EVI-1, AMLCR1, CBFA2, EVI-1, PEBP2A2, PEBP2aB
Location
Chromosome 21: 36,160,098-37,376,965 reverse strand.
GRCh37:CM000683.1
About this gene
This gene has 19 transcripts (splice variants), 2 paralogues and is associated with 90 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000300305.3 | RUNX1-002 | 6222 | 480aa | ENSP00000300305.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13639 | Q01196 | - | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000344691.4 | RUNX1-001 | 7274 | 453aa | ENSP00000340690.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS42922 | Q01196 | NM_001001890.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000437180.1 | RUNX1-202 | 5967 | 480aa | ENSP00000409227.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS13639 | Q01196 | NM_001754.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000325074.5 | RUNX1-201 | 5741 | 468aa | ENSP00000319459.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MZI9 Q01196 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000358356.5 | RUNX1-005 | 2720 | 250aa | ENSP00000351123.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46646 | Q01196 | NM_001122607.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000399240.1 | RUNX1-009 | 1590 | 389aa | ENSP00000382184.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H9KVB1 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000475045.2 | RUNX1-013 | 1582 | 49aa | ENSP00000477072.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000399237.2 | RUNX1-012 | 822 | 256aa | ENSP00000382182.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | A8MZI9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000486278.2 | RUNX1-203 | 792 | 191aa | ENSP00000438019.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H139 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000455571.1 | RUNX1-010 | 610 | 140aa | ENSP00000388189.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9JWM1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000416754.1 | RUNX1-004 | 346 | 32aa | ENSP00000405158.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q01196 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000482318.1 | RUNX1-003 | 1710 | 38aa | ENSP00000477067.1 | Nonsense mediated decay | - | - | - | |
| ENST00000494829.1 | RUNX1-015 | 3622 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460207.1 | RUNX1-017 | 603 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000479325.1 | RUNX1-006 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467692.1 | RUNX1-016 | 453 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000467577.1 | RUNX1-008 | 264 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468726.1 | RUNX1-014 | 251 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000469087.1 | RUNX1-007 | 1790 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
