Description
espin [Source:HGNC Symbol;Acc:13281]
Gene Synonyms
DFNB36
Location
Chromosome 1: 6,484,848-6,521,430 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 10 transcripts (splice variants), 1 paralogue and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000377828.1 | ESPN-001 | 3531 | 854aa | ENSP00000367059.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS70 | B1AK53 | NM_031475.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000461727.1 | ESPN-009 | 1869 | 288aa | ENSP00000465308.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AK53 K7EMB7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000416731.1 | ESPN-201 | 1665 | 288aa | ENSP00000399239.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1AK53 K7EMB7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000434576.1 | ESPN-007 | 750 | 188aa | ENSP00000413621.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000418286.1 | ESPN-002 | 641 | 213aa | ENSP00000401793.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JYL1 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000478323.1 | ESPN-005 | 270 | 28aa | ENSP00000466437.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | K7EMB7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000475228.1 | ESPN-004 | 813 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000468561.1 | ESPN-008 | 664 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000475479.1 | ESPN-006 | 360 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000477679.1 | ESPN-003 | 885 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
