Loading…

Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

Configure this page

Share this page

Bookmark this page

.

Gene: MEFV ENSG00000103313

.

Description

Mediterranean fever [Source:HGNC Symbol;Acc:6998]

Gene Synonyms

FMF, MEF, TRIM20

Location

Chromosome 16: 3,292,028-3,306,627 reverse strand.

GRCh37:CM000678.1

About this gene

This gene has 14 transcripts (splice variants), 7 paralogues and is associated with 6 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000219596.1	MEFV-001	3499	781aa	ENSP00000219596.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS10498	O15553	NM_000243.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000339854.4	MEFV-010	2959	601aa	ENSP00000339639.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding		F8W6Z2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000541159.1	MEFV-002	1888	445aa	ENSP00000438711.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS55981	I4DSV7 O15553	NM_001198536.1	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000536379.1	MEFV-004	1713	570aa	ENSP00000445079.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		I4DSV7 O15553	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000542898.1	MEFV-008	3710	644aa	ENSP00000444615.1	Nonsense mediated decay		F5H595	-	-
ENST00000537682.1	MEFV-006	3617	613aa	ENSP00000438611.1	Nonsense mediated decay		F5H2E5	-	-
ENST00000538326.1	MEFV-007	3597	490aa	ENSP00000437486.1	Nonsense mediated decay		F5H6N9	-	-
ENST00000536980.1	MEFV-009	2984	402aa	ENSP00000444178.1	Nonsense mediated decay		F5GZV9 I4DSV7	-	-
ENST00000570511.1	MEFV-015	1751	306aa	ENSP00000458312.1	Nonsense mediated decay		I3L0S7	-	-
ENST00000539145.1	MEFV-003	1267	95aa	ENSP00000444471.1	Nonsense mediated decay		D2DTW1	-	-
ENST00000576315.1	MEFV-013	1151	95aa	ENSP00000460551.1	Nonsense mediated decay		D2DTW1	-	-
ENST00000574583.1	MEFV-014	1118	95aa	ENSP00000460269.1	Nonsense mediated decay		D2DTW1	-	-
ENST00000572244.1	MEFV-012	1036	101aa	ENSP00000461186.1	Nonsense mediated decay		E3P8H6	-	-
ENST00000539154.1	MEFV-005	1090	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

.

Summary

.

.