Mediterranean fever [Source:HGNC Symbol;Acc:6998]
FMF, MEF, TRIM20
Chromosome 16: 3,292,028-3,306,627 reverse strand.
GRCh37:CM000678.1
This gene has 14 transcripts (splice variants), 7 paralogues and is associated with 7 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000219596.1 | MEFV-001 | 3499 | 781aa | ENSP00000219596.1 | Protein coding | CCDS10498 | O15553 | NM_000243.2 | Ensembl Canonical, GENCODE basic, |
ENST00000339854.4 | MEFV-010 | 2959 | 601aa | ENSP00000339639.4 | Protein coding | F8W6Z2 | - | GENCODE basic, | |
ENST00000541159.1 | MEFV-002 | 1888 | 445aa | ENSP00000438711.1 | Protein coding | CCDS55981 | I4DSV7 O15553 | NM_001198536.1 | GENCODE basic, |
ENST00000536379.1 | MEFV-004 | 1713 | 570aa | ENSP00000445079.1 | Protein coding | I4DSV7 O15553 | - | 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 | - | Retained intron | - | - | - |