Description
hephaestin [Source:HGNC Symbol;Acc:4866]
Gene Synonyms
CPL, KIAA0698
Location
Chromosome X: 65,384,207-65,487,188 forward strand.
About this transcript
This transcript has 18 exons, is annotated with 23 domains and features, is associated with 42986 variant alleles and maps to 559 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 | - | - | - |