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 7 phenotypes.
Transcripts
| 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 | 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, |
| 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 | - | - | - |
