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) and is associated with 10 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 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).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 | - | - | - |
