Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Gene Synonyms
EXP, EXP35, EXP40, EXP42, KIAA0428, MBNL
Location
Chromosome 3: 151,961,617-152,183,569 forward strand.
GRCh37:CM000665.1
About this gene
This gene has 24 transcripts (splice variants), 2 paralogues and is associated with 1 phenotype.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000282486.6 | MBNL1-201 | 6422 | 388aa | ENSP00000282486.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3165 | C9J7P7 C9JCX1 Q9NR56 | - | 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, |
| ENST00000282488.7 | MBNL1-202 | 6164 | 302aa | ENSP00000282488.7 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54656 | B4DLS5 Q9NR56 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000355460.2 | MBNL1-001 | 5941 | 370aa | ENSP00000347637.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3164 | C9J7P7 C9JCX1 Q9NR56 | NM_207292.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000324210.5 | MBNL1-004 | 5465 | 382aa | ENSP00000319429.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3163 | C9J7P7 C9JCX1 Q68DD0 Q9NR56 | NM_021038.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000498502.1 | MBNL1-007 | 5258 | 348aa | ENSP00000420327.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J7P7 C9JCX1 C9JP00 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000357472.3 | MBNL1-204 | 5256 | 342aa | ENSP00000350064.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3168 | C9J7P7 C9JCX1 Q9NR56 | NM_207297.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000324196.5 | MBNL1-203 | 5225 | 340aa | ENSP00000319374.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3167 | C9J7P7 C9JCX1 Q9NR56 | NM_207296.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000545754.1 | MBNL1-205 | 5147 | 314aa | ENSP00000437491.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3166 | Q68DD0 Q9NR56 | NM_207295.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000463374.1 | MBNL1-006 | 5092 | 388aa | ENSP00000418108.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3165 | C9J7P7 C9JCX1 Q9NR56 | NM_207293.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000485910.1 | MBNL1-008 | 4257 | 302aa | ENSP00000418427.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS54656 | B4DLS5 Q9NR56 | NM_207294.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000493459.1 | MBNL1-003 | 4205 | 343aa | ENSP00000419347.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4E233 C9J7P7 C9JCX1 Q68DD0 Q86VM6 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000478535.1 | MBNL1-012 | 1451 | 210aa | ENSP00000418508.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H7C4Y1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000492948.1 | MBNL1-010 | 1054 | 342aa | ENSP00000420103.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3168 | C9J7P7 C9JCX1 Q9NR56 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000485509.1 | MBNL1-011 | 1023 | 340aa | ENSP00000418876.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3167 | C9J7P7 C9JCX1 Q9NR56 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000464596.1 | MBNL1-013 | 989 | 329aa | ENSP00000418109.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J7P7 C9JCX1 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000465907.2 | MBNL1-009 | 945 | 314aa | ENSP00000417630.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS3166 | Q68DD0 Q9NR56 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| ENST00000460591.1 | MBNL1-017 | 898 | 155aa | ENSP00000420680.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J7P7 C9JCX1 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000459747.1 | MBNL1-016 | 594 | 58aa | ENSP00000417169.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J4T8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000495875.2 | MBNL1-015 | 545 | 90aa | ENSP00000417741.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J7P7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000461436.1 | MBNL1-002 | 1681 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000466565.1 | MBNL1-005 | 1096 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000477171.1 | MBNL1-018 | 1039 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000460166.1 | MBNL1-019 | 552 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000497971.1 | MBNL1-014 | 5051 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
