Description
aspartate beta-hydroxylase [Source:HGNC Symbol;Acc:757]
Gene Synonyms
AAH, BAH, CASQ2BP1, HAAH, JCTN, junctin
Location
Chromosome 8: 62,413,116-62,627,155 reverse strand.
GRCh37:CM000670.1
About this gene
This gene has 30 transcripts (splice variants), 2 paralogues and is associated with 4 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000541428.1 | ASPH-202 | 5153 | 729aa | ENSP00000437864.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55234 | Q12797 | NM_001164750.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379454.4 | ASPH-002 | 4595 | 758aa | ENSP00000368767.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34898 | Q12797 | NM_004318.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000356457.5 | ASPH-001 | 2904 | 313aa | ENSP00000348841.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43742 | Q12797 | NM_032466.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000519234.1 | ASPH-011 | 2874 | 327aa | ENSP00000427823.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RG56 | - | - | |
| ENST00000518068.1 | ASPH-008 | 2744 | 270aa | ENSP00000429286.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55237 | Q12797 | NM_001164755.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000517903.1 | ASPH-003 | 2658 | 298aa | ENSP00000430245.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55236 | B7ZM96 Q12797 | NM_032468.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000445642.3 | ASPH-201 | 2273 | 299aa | ENSP00000394013.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47866 | Q12797 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000517847.2 | ASPH-032 | 1947 | 299aa | ENSP00000429954.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47866 | Q12797 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379449.6 | ASPH-006 | 1603 | 203aa | ENSP00000368762.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55238 | Q12797 | NM_001164756.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000389204.4 | ASPH-005 | 1290 | 225aa | ENSP00000373856.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34900 | Q12797 | NM_020164.4 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000522919.1 | ASPH-023 | 1269 | 163aa | ENSP00000430516.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJL3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000522835.1 | ASPH-009 | 1258 | 256aa | ENSP00000429160.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS55235 | Q12797 | NM_001164753.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000522603.1 | ASPH-004 | 842 | 210aa | ENSP00000436188.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS34899 | Q12797 | NM_032467.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000517661.1 | ASPH-015 | 809 | 174aa | ENSP00000428060.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3XAN5 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000517856.1 | ASPH-018 | 800 | 113aa | ENSP00000429743.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHJ2 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000518306.1 | ASPH-016 | 755 | 198aa | ENSP00000427877.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RG29 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000522349.1 | ASPH-024 | 531 | 136aa | ENSP00000429718.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RHK2 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000523897.1 | ASPH-027 | 871 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000524173.1 | ASPH-028 | 587 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000523927.1 | ASPH-029 | 557 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000517928.1 | ASPH-013 | 548 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000519678.1 | ASPH-021 | 536 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000522343.1 | ASPH-012 | 329 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000521909.1 | ASPH-025 | 851 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000518441.1 | ASPH-020 | 781 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000522325.1 | ASPH-014 | 665 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000522036.1 | ASPH-017 | 663 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000520198.1 | ASPH-019 | 544 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000521499.1 | ASPH-026 | 484 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000519264.1 | ASPH-022 | 337 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
