Description
dystrophin [Source:HGNC Symbol;Acc:2928]
Gene Synonyms
BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272
Location
Chromosome X: 31,115,794-33,357,558 reverse strand.
GRCh37:CM000685.1
About this gene
This gene has 28 transcripts (splice variants), 5 paralogues and is associated with 10 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000357033.4 | DMD-001 | 13956 | 3685aa | ENSP00000354923.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14233 | E7EQS5 F2WSI7 Q14205 Q548X2 Q7KYP7 Q7KZ40 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 Q8WYC4 Q8WYC5 Q8WYC6 Q8WYC7 Q8WYC8 Q8WYC9 Q8WYD0 Q8WYD1 Q8WYD2 Q8WYD3 Q8WYD4 Q8WYD5 Q8WYD6 Q8WYD7 Q8WYD8 Q8WYD9 Q8WYE1 Q8WYE2 Q8WYE3 Q8WYE4 Q8WYE5 Q8WYE6 Q8WYE7 Q8WYE8 Q8WYE9 Q8WYF0 Q8WYF1 Q8WYF2 Q8WYF3 Q8WYF4 Q8WYF5 Q8WYF6 Q9UEH4 Q9UME2 Q9UMG1 Q9UMK7 Q9UMK8 Q9UPB4 Q9UPB5 | NM_004014.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378677.2 | DMD-006 | 13932 | 3681aa | ENSP00000367948.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55395 | E7EQS5 E9PDN5 F2WSI7 Q14205 Q548X2 Q7KYP7 Q7KZ40 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 Q8WYC4 Q8WYC5 Q8WYC6 Q8WYC7 Q8WYC8 Q8WYC9 Q8WYD0 Q8WYD1 Q8WYD2 Q8WYD3 Q8WYD4 Q8WYD5 Q8WYD6 Q8WYD7 Q8WYD8 Q8WYD9 Q8WYE1 Q8WYE2 Q8WYE3 Q8WYE4 Q8WYE5 Q8WYE6 Q8WYE7 Q8WYE8 Q8WYE9 Q8WYF0 Q8WYF1 Q8WYF2 Q8WYF3 Q8WYF4 Q8WYF5 Q8WYF6 Q9UEH4 Q9UME2 Q9UMG1 Q9UMK7 Q9UMK8 Q9UPB4 Q9UPB5 | NM_004014.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378707.3 | DMD-203 | 7410 | 1225aa | ENSP00000367979.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS48091 | E7EQS5 F2WSI7 Q14205 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 | NM_004014.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000359836.1 | DMD-202 | 7339 | 1230aa | ENSP00000352894.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F2WSI7 F8VX32 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 | NM_004022.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000541735.1 | DMD-204 | 7080 | 1115aa | ENSP00000444119.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55394 | F2WSI7 F5GZY3 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 | NM_004020.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000343523.2 | DMD-201 | 7048 | 1133aa | ENSP00000340057.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7EQR9 F2WSI7 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 | NM_004023.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000358062.2 | DMD-017 | 6773 | 1386aa | ENSP00000350765.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F2WSI7 F8VX32 H0Y304 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 Q8WYC4 Q8WYC5 Q8WYC6 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000474231.1 | DMD-016 | 5209 | 1243aa | ENSP00000417123.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E7ESB2 F2WSI7 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 Q8WYC0 Q8WYC1 Q8WYC2 Q8WYC3 | NM_004021.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000378723.3 | DMD-013 | 4645 | 635aa | ENSP00000367997.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14231 | P11532 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 | NM_004016.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000288447.4 | DMD-002 | 3856 | 772aa | ENSP00000288447.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q4G0X0 Q548X2 Q7KZ40 Q8WYE2 Q8WYE3 Q8WYE4 Q8WYE5 Q8WYE6 Q8WYE7 Q8WYE8 Q8WYE9 Q8WYF0 Q8WYF1 Q8WYF2 Q8WYF3 Q8WYF4 Q8WYF5 Q8WYF6 Q9UMG1 Q9UPB5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000378702.4 | DMD-015 | 2617 | 617aa | ENSP00000367974.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14234 | P11532 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 | NM_004015.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000361471.4 | DMD-014 | 2224 | 622aa | ENSP00000354464.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14232 | P11532 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 | NM_004018.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000378680.2 | DMD-019 | 1858 | 525aa | ENSP00000367951.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DSV7 P11532 Q7KYP7 Q8WTQ2 Q8WYB8 Q8WYB9 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000378705.3 | DMD-020 | 714 | 238aa | ENSP00000367977.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y3E8 Q7KYP7 Q8WTQ2 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000493412.1 | DMD-024 | 616 | 134aa | ENSP00000417725.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0Y864 Q8WYD1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000447523.1 | DMD-009 | 375 | 125aa | ENSP00000395904.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q14174 Q8WYF3 Q8WYF4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000420596.1 | DMD-004 | 303 | 101aa | ENSP00000399897.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q14172 Q8WYD4 Q8WYF6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000448370.1 | DMD-005 | 123 | 41aa | ENSP00000388559.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q8WYF6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000471779.1 | DMD-012 | 362 | 30aa | ENSP00000417075.1 | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000445312.1 | DMD-011 | 781 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000488902.1 | DMD-003 | 771 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481143.2 | DMD-025 | 621 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000469142.1 | DMD-022 | 555 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000463609.1 | DMD-023 | 554 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472266.1 | DMD-008 | 380 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000472681.1 | DMD-007 | 371 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000480751.1 | DMD-010 | 234 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000475732.1 | DMD-018 | 669 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
