Description
hephaestin [Source:HGNC Symbol;Acc:4866]
Gene Synonyms
CPL, KIAA0698
Location
Chromosome X: 65,384,112-65,393,642 forward strand.
About this transcript
This transcript has 4 exons, is annotated with 6 domains and features, is associated with 3155 variant alleles and maps to 112 oligo probes.
Gene
This transcript is a product of gene ENSG00000089472.12 Show transcript tableHide transcript table
| 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 | - | 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 | - | - | - |