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 | 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 | - | - | - |
