FA complementation group E [Source:HGNC Symbol;Acc:HGNC:3586]
FACE, FAE
Chromosome 6: 35,452,338-35,467,104 forward strand.
GRCh38:CM000668.2
This gene has 8 transcripts (splice variants), 189 orthologues and is associated with 40 phenotypes.
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000229769.3 | FANCE-201 | 2576 | 536aa | ENSP00000229769.2 | Protein coding | CCDS4805 | Q9HB96 | NM_021922.3 | MANE Select, Ensembl Canonical, GENCODE basic, APPRIS P1, TSL:1, |
ENST00000696264.1 | FANCE-203 | 2137 | 451aa | ENSP00000512511.1 | Protein coding | CCDS93899 | A0A8Q3WL50 | - | GENCODE basic, |
ENST00000648059.1 | FANCE-202 | 2550 | 503aa | ENSP00000497902.1 | Nonsense mediated decay | A0A3B3ITU7 | - | - | |
ENST00000696265.1 | FANCE-204 | 2280 | 441aa | ENSP00000512512.1 | Nonsense mediated decay | A0A8Q3WMB8 | - | - | |
ENST00000696266.1 | FANCE-205 | 1874 | 339aa | ENSP00000512513.1 | Nonsense mediated decay | A0A8Q3SIL2 | - | CDS 5' incomplete, | |
ENST00000696267.1 | FANCE-206 | 2608 | No protein | - | Retained intron | - | - | - | |
ENST00000696269.1 | FANCE-208 | 1986 | No protein | - | Retained intron | - | - | - | |
ENST00000696268.1 | FANCE-207 | 571 | No protein | - | Retained intron | - | - | - |