Description
dysferlin [Source:HGNC Symbol;Acc:3097]
Gene Synonyms
FER1L1, LGMD2B, MMD1
Location
Chromosome 2: 71,680,852-71,913,898 forward strand.
GRCh37:CM000664.1
About this gene
This gene has 19 transcripts (splice variants), 3 paralogues and is associated with 7 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000410020.3 | DYSF-007 | 6657 | 2119aa | ENSP00000386881.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46328 | A0FK00 O75923 | NM_001130987.1 | 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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000258104.3 | DYSF-001 | 6796 | 2080aa | ENSP00000258104.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS1918 | B7Z2R1 O75923 Q7Z6P1 | NM_003494.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409582.3 | DYSF-011 | 6790 | 2118aa | ENSP00000386547.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46324 | A0FK00 O75923 Q7Z6P1 | NM_001130981.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000413539.2 | DYSF-021 | 6769 | 2111aa | ENSP00000407046.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46323 | B7Z2R1 O75923 Q7Z6P1 | NM_001130979.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000429174.2 | DYSF-020 | 6739 | 2101aa | ENSP00000398305.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46326 | A0FK00 O75923 Q7Z6P1 | NM_001130978.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409762.1 | DYSF-004 | 6727 | 2097aa | ENSP00000387137.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46325 | B7Z2R1 O75923 Q7Z6P1 | NM_001130980.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409651.1 | DYSF-002 | 6636 | 2112aa | ENSP00000386683.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46327 | B7Z2R1 O75923 | NM_001130982.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409366.1 | DYSF-006 | 6606 | 2102aa | ENSP00000386512.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46330 | A0FK00 O75923 | NM_001130983.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000410041.1 | DYSF-009 | 6594 | 2098aa | ENSP00000386617.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46329 | B7Z2R1 O75923 | NM_001130985.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000409744.1 | DYSF-005 | 6564 | 2088aa | ENSP00000386285.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46332 | A0FK00 O75923 | NM_001130984.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000394120.2 | DYSF-003 | 6543 | 2081aa | ENSP00000377678.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS46331 | B7Z2R1 O75923 | NM_001130986.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000479049.2 | DYSF-016 | 3399 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468173.1 | DYSF-014 | 778 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000475076.1 | DYSF-019 | 669 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472873.1 | DYSF-012 | 600 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000487180.1 | DYSF-013 | 595 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000493767.1 | DYSF-017 | 564 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000494501.1 | DYSF-015 | 538 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000461565.1 | DYSF-018 | 515 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - |
