Description
hephaestin [Source:HGNC Symbol;Acc:4866]
Gene Synonyms
CPL, KIAA0698
Location
Chromosome X: 65,382,391-65,488,709 forward strand.
GRCh37:CM000685.1
About this gene
This gene has 10 transcripts (splice variants) and 2 paralogues.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000519389.1 | HEPH-001 | 6013 | 1212aa | ENSP00000430620.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14384 | B4DFV3 Q1HE23 Q5JZ07 Q9BQS7 | - | 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, |
| ENST00000343002.2 | HEPH-002 | 4854 | 1158aa | ENSP00000343939.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DFV3 Q1HE23 Q5JZ07 Q9BQS7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000374727.3 | HEPH-201 | 4490 | 1161aa | ENSP00000363859.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B4DFV3 Q1HE23 Q5JZ07 Q9BQS7 | NM_138737.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000441993.2 | HEPH-008 | 4310 | 1160aa | ENSP00000411687.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS48133 | Q5JZ07 Q9BQS7 | NM_001130860.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000336279.5 | HEPH-003 | 4228 | 891aa | ENSP00000337418.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS14385 | B4DFV3 Q9BQS7 | NM_014799.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000419594.1 | HEPH-007 | 3694 | 969aa | ENSP00000413211.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS65277 | E7ES21 Q5JZ07 | NM_001282141.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000425114.1 | HEPH-004 | 2459 | 811aa | ENSP00000398078.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JZ07 Q5JZ08 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000458621.1 | HEPH-005 | 838 | 208aa | ENSP00000396907.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q5JZ07 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000429547.1 | HEPH-009 | 569 | 63aa | ENSP00000392319.1 | Nonsense mediated decay | F8WBZ8 | - | - | |
| ENST00000471121.1 | HEPH-010 | 802 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
