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: 55,865,962-55,924,271 reverse strand.

GRCh38:CM000664.2

About this gene

This gene has 54 transcripts (splice variants), 220 orthologues, 6 paralogues and is associated with 6 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355426.8EFEMP1-2012708493aaENSP00000347596.3
 
Protein coding
CCDS1857Q12805-1 NM_001039348.3MANE SelectEnsembl CanonicalGENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000951480.1EFEMP1-2323833453aaENSP00000621539.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000881453.1EFEMP1-2183479493aaENSP00000551512.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881459.1EFEMP1-2243302493aaENSP00000551518.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951487.1EFEMP1-2393072453aaENSP00000621546.1
 
Protein coding
--GENCODE Basic
ENST00000881452.1EFEMP1-2173028493aaENSP00000551511.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000394555.6EFEMP1-2023024493aaENSP00000378058.2
 
Protein coding
CCDS1857Q12805-1 -GENCODE PrimaryGENCODE BasicAPPRIS P3TSL:1
ENST00000951478.1EFEMP1-2302875493aaENSP00000621537.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951483.1EFEMP1-2352844493aaENSP00000621542.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951477.1EFEMP1-2292727493aaENSP00000621536.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951482.1EFEMP1-2342720493aaENSP00000621541.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951481.1EFEMP1-2332719491aaENSP00000621540.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951479.1EFEMP1-2312688491aaENSP00000621538.1
 
Protein coding
--GENCODE PrimaryGENCODE BasicAPPRIS ALT2
ENST00000951485.1EFEMP1-2372648493aaENSP00000621544.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881463.1EFEMP1-2282646493aaENSP00000551522.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881451.1EFEMP1-2162619453aaENSP00000551510.1
 
Protein coding
--GENCODE Basic
ENST00000881450.1EFEMP1-2152580453aaENSP00000551509.1
 
Protein coding
--GENCODE Basic
ENST00000951484.1EFEMP1-2362542452aaENSP00000621543.1
 
Protein coding
--GENCODE Basic
ENST00000951501.1EFEMP1-2532533453aaENSP00000621560.1
 
Protein coding
--GENCODE Basic
ENST00000951486.1EFEMP1-2382383493aaENSP00000621545.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951491.1EFEMP1-2432275493aaENSP00000621550.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951497.1EFEMP1-2492266493aaENSP00000621556.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951489.1EFEMP1-2412260518aaENSP00000621548.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951494.1EFEMP1-2462241493aaENSP00000621553.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951488.1EFEMP1-2402218493aaENSP00000621547.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881458.1EFEMP1-2232201543aaENSP00000551517.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951492.1EFEMP1-2442187493aaENSP00000621551.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951496.1EFEMP1-2482186493aaENSP00000621555.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881461.1EFEMP1-2262175493aaENSP00000551520.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951502.1EFEMP1-2542172493aaENSP00000621561.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881454.1EFEMP1-2192158484aaENSP00000551513.1
 
Protein coding
--GENCODE Basic
ENST00000951495.1EFEMP1-2472155493aaENSP00000621554.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881456.1EFEMP1-2212147518aaENSP00000551515.1
 
Protein coding
--GENCODE BasicAPPRIS ALT2
ENST00000951499.1EFEMP1-2512136493aaENSP00000621558.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951498.1EFEMP1-2502102493aaENSP00000621557.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881462.1EFEMP1-2272080493aaENSP00000551521.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000951493.1EFEMP1-2452071493aaENSP00000621552.1
 
Protein coding
CCDS1857A0A0S2Z4F1 -GENCODE BasicAPPRIS P3
ENST00000881455.1EFEMP1-2202055453aaENSP00000551514.1
 
Protein coding
--GENCODE Basic
ENST00000881460.1EFEMP1-2252010484aaENSP00000551519.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000881457.1EFEMP1-2221949453aaENSP00000551516.1
 
Protein coding
--GENCODE Basic
ENST00000951500.1EFEMP1-2521919449aaENSP00000621559.1
 
Protein coding
--GENCODE PrimaryGENCODE Basic
ENST00000951490.1EFEMP1-2421715372aaENSP00000621549.1
 
Protein coding
--GENCODE Basic
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