Description

fragile X mental retardation 1 [Source:HGNC Symbol;Acc:HGNC:3775]

Synonyms

FMRP, FRAXA, MGC87458, POF, POF1

Location

Chromosome X: 147,911,951-147,951,125 forward strand.

GRCh38:CM000685.2

About this gene

This gene has 20 transcripts (splice variants), 65 orthologues, 2 paralogues, is a member of 3 Ensembl protein families and is associated with 9 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
FMR1-201ENST000002182004333611aaENSP00000218200
 
Protein coding
CCDS55519Q06787 NM_001185076
NP_001172005
TSL:1GENCODE basicAPPRIS ALT2
FMR1-001ENST000003704754308632aaENSP00000359506
 
Protein coding
CCDS14682Q06787 NM_002024
NP_002015
TSL:1GENCODE basicAPPRIS P3
FMR1-012ENST000004402354271586aaENSP00000413764
 
Protein coding
CCDS76039Q06787 NM_001185082
NP_001172011
TSL:1GENCODE basic
FMR1-202ENST000003704714125537aaENSP00000359502
 
Protein coding
CCDS55518G8JLE9 NM_001185075
NM_001185081
NP_001172004
NP_001172010
TSL:5GENCODE basic
FMR1-003ENST000004395263699592aaENSP00000395923
 
Protein coding
-G3V0J0 -TSL:1GENCODE basic
FMR1-005ENST000003704773437582aaENSP00000359508
 
Protein coding
-A8MQB8 -TSL:5GENCODE basic
FMR1-204ENST000006214531864544aaENSP00000479528
 
Protein coding
-R9WNI0 -TSL:1GENCODE basicAPPRIS ALT2
FMR1-011ENST00000621447183231aaENSP00000484324
 
Protein coding
-A0A087X1M7 -TSL:3GENCODE basic
FMR1-004ENST000003704701774590aaENSP00000359501
 
Protein coding
-Q06787 -TSL:5GENCODE basic
FMR1-203ENST000006163821648419aaENSP00000481058
 
Protein coding
-A0A087WXI3 -TSL:5GENCODE basic
FMR1-205ENST000006219871352297aaENSP00000477839
 
Protein coding
-Q8IXW7 -TSL:5GENCODE basic
FMR1-002ENST000003345571295297aaENSP00000355115
 
Protein coding
-Q8IXW7 -TSL:1GENCODE basic
FMR1-006ENST00000495717776252aaENSP00000481474
 
Protein coding
-A0A087WY29 -CDS 3' incompleteTSL:5
FMR1-007ENST00000463120470119aaENSP00000480886
 
Protein coding
-A0A087WXC0 -CDS 5' incompleteTSL:2
FMR1-016ENST00000616614140976aaENSP00000480513
 
Nonsense mediated decay
-A0A087WWU4 -TSL:5
FMR1-015ENST00000475038571102aaENSP00000480450
 
Nonsense mediated decay
-A0A087WWR6 -CDS 5' incompleteTSL:5
FMR1-013ENST000006208284830No protein-
 
Retained intron
---TSL:1
FMR1-010ENST00000492846815No protein-
 
Retained intron
---TSL:2
FMR1-014ENST00000611273564No protein-
 
Retained intron
---TSL:2
FMR1-008ENST00000478848541No protein-
 
Retained intron
---TSL:2

Gene-based displays