Description
diaphanous-related formin 1 [Source:HGNC Symbol;Acc:2876]
Gene Synonyms
DFNA1, DIA1, DIAP1, DRF1, LFHL1, hDIA1
Location
Chromosome 5: 140,894,583-140,998,622 reverse strand.
GRCh37:CM000667.1
About this gene
This gene has 18 transcripts (splice variants), 12 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000398557.4 | DIAPH1-203 | 5789 | 1272aa | ENSP00000381565.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43374 | A0RZB7 B4DVR3 E5RJ79 O60610 Q6UUU0 Q7KZJ7 Q96IL1 | NM_005219.4 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000253811.6 | DIAPH1-201 | 5792 | 1273aa | ENSP00000253811.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 H9KV28 Q6UUU0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000389054.3 | DIAPH1-001 | 5786 | 1269aa | ENSP00000373706.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 E7ERW8 E9PEZ3 Q6UUU0 Q7KZJ7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000398566.3 | DIAPH1-205 | 5765 | 1264aa | ENSP00000381572.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 E7ET75 Q6UUU0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000389057.5 | DIAPH1-202 | 5762 | 1263aa | ENSP00000373709.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43373 | A0RZB7 B4DVR3 E5RJ79 O60610 Q6UUU0 Q7KZJ7 Q96IL1 | NM_001079812.2 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000398562.2 | DIAPH1-204 | 5717 | 1248aa | ENSP00000381570.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B9ZVX0 E5RJ79 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000520569.1 | DIAPH1-003 | 5495 | 1215aa | ENSP00000429282.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 E7ERW8 Q6UUU0 Q7KZJ7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000518047.1 | DIAPH1-012 | 4659 | 1260aa | ENSP00000428268.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 E7ERW8 E9PHQ0 Q6UUU0 Q7KZJ7 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000448451.1 | DIAPH1-004 | 2102 | 96aa | ENSP00000408159.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000524301.1 | DIAPH1-011 | 561 | 112aa | ENSP00000430587.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ79 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000521457.1 | DIAPH1-002 | 3857 | 863aa | ENSP00000427880.1 | Nonsense mediated decay | E5RJ79 E7EMV0 Q6UUU0 | - | - | |
| ENST00000523100.1 | DIAPH1-010 | 1180 | 201aa | ENSP00000428208.1 | Nonsense mediated decay | B4E2I7 E5RJ79 | - | - | |
| ENST00000494967.1 | DIAPH1-007 | 629 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468119.1 | DIAPH1-009 | 619 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000491754.1 | DIAPH1-008 | 557 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000518484.1 | DIAPH1-013 | 546 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000476339.1 | DIAPH1-005 | 2606 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000472516.1 | DIAPH1-006 | 508 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
