Human (GRCh38.p14)
Description

EGF containing fibulin extracellular matrix protein 1 [Source:HGNC Symbol;Acc:HGNC:3218]

Gene Synonyms

DHRD, FBLN3, FBNL, MTLV, S1-5

Location

Chromosome 2: 55,865,967-55,924,139 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 14 transcripts (splice variants), 221 orthologues, 6 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355426.8EFEMP1-2012708493aaENSP00000347596.3
 
Protein coding
CCDS1857Q12805-1 NM_001039348.3MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P1TSL:1
ENST00000394555.6EFEMP1-2023024493aaENSP00000378058.2
 
Protein coding
CCDS1857Q12805-1 -GENCODE basicAPPRIS P1TSL:1
ENST00000634374.1EFEMP1-2131007280aaENSP00000489183.1
 
Protein coding
A0A0U1RQV3 -TSL:5CDS 5' incomplete
ENST00000438672.5EFEMP1-206733172aaENSP00000392055.1
 
Protein coding
Q580Q6 -TSL:4CDS 3' incomplete
ENST00000439193.5EFEMP1-207572119aaENSP00000408195.1
 
Protein coding
C9JPZ9 -TSL:4CDS 3' incomplete
ENST00000440439.5EFEMP1-208559106aaENSP00000398345.1
 
Protein coding
C9J4J8 -TSL:4CDS 3' incomplete
ENST00000429909.5EFEMP1-20555887aaENSP00000389319.1
 
Protein coding
C9JQX7 -TSL:4CDS 3' incomplete
ENST00000452337.5EFEMP1-21055261aaENSP00000399480.1
 
Protein coding
C9JUM4 -TSL:3CDS 3' incomplete
ENST00000421664.1EFEMP1-20354751aaENSP00000405686.1
 
Protein coding
C9J8S9 -TSL:4CDS 3' incomplete
ENST00000424207.5EFEMP1-20433927aaENSP00000398387.1
 
Protein coding
C9J4H7 -TSL:5CDS 3' incomplete
ENST00000635671.1EFEMP1-214180946aaENSP00000489578.1
 
Nonsense mediated decay
A0A0U1RRL0 -TSL:2
ENST00000497698.1EFEMP1-212604No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000452161.5EFEMP1-209563No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000480016.1EFEMP1-211588No protein-
 
Retained intron
--TSL:2