Description
fukutin related protein [Source:HGNC Symbol;Acc:17997]
Gene Synonyms
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Location
Chromosome 19: 47,249,303-47,280,245 forward strand.
GRCh37:CM000681.1
About this gene
This gene has 27 transcripts (splice variants), 171 orthologues and is associated with 11 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000318584.5 | FKRP-001 | 3332 | 495aa | ENSP00000326570.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12691 | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QYV8 M0QZ46 M0QZ68 M0R005 M0R016 M0R092 M0R0G0 M0R112 M0R1M1 M0R274 M0R2U3 M0R342 Q9H9S5 | NM_024301.4 | 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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000391909.3 | FKRP-002 | 2801 | 495aa | ENSP00000375776.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS12691 | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QYV8 M0QZ46 M0QZ68 M0R005 M0R016 M0R092 M0R0G0 M0R112 M0R1M1 M0R274 M0R2U3 M0R342 Q9H9S5 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000601299.1 | FKRP-016 | 633 | 162aa | ENSP00000470103.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QYV8 M0QZ46 M0QZ68 M0R005 M0R016 M0R092 M0R0G0 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000593877.1 | FKRP-013 | 633 | 4aa | ENSP00000472850.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600629.1 | FKRP-005 | 597 | 80aa | ENSP00000470096.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0QYR2 M0QYV4 M0R016 M0R092 M0R112 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000593875.1 | FKRP-025 | 593 | 86aa | ENSP00000470297.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0R016 M0R092 M0R112 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000598271.1 | FKRP-019 | 592 | 29aa | ENSP00000471088.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R092 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000593800.1 | FKRP-011 | 591 | 101aa | ENSP00000471209.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0R016 M0R092 M0R0G0 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000597313.1 | FKRP-021 | 584 | 59aa | ENSP00000472370.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R092 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000595570.1 | FKRP-026 | 583 | 61aa | ENSP00000470929.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R016 M0R092 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000593902.1 | FKRP-027 | 577 | 137aa | ENSP00000470901.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0QZ68 M0R005 M0R016 M0R092 M0R0G0 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000602250.1 | FKRP-008 | 569 | 53aa | ENSP00000472807.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R092 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000596460.1 | FKRP-020 | 569 | 68aa | ENSP00000469373.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0R016 M0R092 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600227.1 | FKRP-024 | 559 | 106aa | ENSP00000468825.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0R016 M0R092 M0R0G0 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000595868.1 | FKRP-009 | 556 | 70aa | ENSP00000471573.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0R016 M0R092 M0R112 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600834.1 | FKRP-003 | 551 | 72aa | ENSP00000470024.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0QYR2 M0R016 M0R092 M0R112 M0R274 M0R2U3 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600005.1 | FKRP-004 | 548 | 114aa | ENSP00000470335.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QX03 M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0QZ68 M0R016 M0R092 M0R0G0 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000594467.1 | FKRP-017 | 545 | 35aa | ENSP00000471971.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0R1M1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000602181.1 | FKRP-010 | 482 | 95aa | ENSP00000472981.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | M0QXT8 M0QYR2 M0QYV4 M0QZ46 M0R016 M0R092 M0R112 M0R274 M0R2U3 M0R342 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000600646.1 | FKRP-015 | 584 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000600977.1 | FKRP-006 | 576 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000596974.1 | FKRP-023 | 568 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000600872.1 | FKRP-007 | 560 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000597339.1 | FKRP-022 | 420 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000600681.1 | FKRP-014 | 383 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000597403.1 | FKRP-012 | 322 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000593995.1 | FKRP-018 | 545 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
