Description
EGF containing fibulin-like extracellular matrix protein 1 [Source:HGNC Symbol;Acc:3218]
Gene Synonyms
DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5
Location
Chromosome 2: 56,093,102-56,151,274 reverse strand.
GRCh37:CM000664.1
About this gene
This gene has 14 transcripts (splice variants), 14 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000394555.2 | EFEMP1-001 | 3024 | 493aa | ENSP00000378058.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1857 | C9J4H7 C9J4J8 C9J8S9 C9JPZ9 C9JQX7 C9JUM4 Q12805 Q53TA7 Q580Q6 | NM_001039349.2 | 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, |
| ENST00000394554.1 | EFEMP1-201 | 2917 | 493aa | ENSP00000378057.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1857 | C9J4H7 C9J4J8 C9J8S9 C9JPZ9 C9JQX7 C9JUM4 Q12805 Q53TA7 Q580Q6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000355426.3 | EFEMP1-003 | 1820 | 493aa | ENSP00000347596.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1857 | C9J4H7 C9J4J8 C9J8S9 C9JPZ9 C9JQX7 C9JUM4 Q12805 Q53TA7 Q580Q6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000424836.2 | EFEMP1-202 | 1809 | 355aa | ENSP00000399145.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DW75 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000438672.1 | EFEMP1-008 | 733 | 172aa | ENSP00000392055.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J4J8 C9J8S9 C9JPZ9 C9JQX7 C9JUM4 Q580Q6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000439193.1 | EFEMP1-004 | 572 | 119aa | ENSP00000408195.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J4J8 C9J8S9 C9JPZ9 C9JQX7 C9JUM4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000440439.1 | EFEMP1-006 | 559 | 106aa | ENSP00000398345.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J4J8 C9J8S9 C9JQX7 C9JUM4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000429909.1 | EFEMP1-005 | 558 | 87aa | ENSP00000389319.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J8S9 C9JQX7 C9JUM4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000452337.1 | EFEMP1-011 | 552 | 61aa | ENSP00000399480.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J8S9 C9JUM4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000421664.1 | EFEMP1-009 | 547 | 51aa | ENSP00000405686.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 C9J8S9 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000424207.1 | EFEMP1-007 | 339 | 27aa | ENSP00000398387.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4H7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000497698.1 | EFEMP1-010 | 604 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000452161.1 | EFEMP1-013 | 563 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480016.1 | EFEMP1-012 | 588 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
