Description
paired box 6 [Source:HGNC Symbol;Acc:8620]
Gene Synonyms
AN, AN2, D11S812E, MGDA, WAGR
Location
Chromosome 11: 31,806,340-31,839,509 reverse strand.
GRCh37:CM000673.1
About this gene
This gene has 30 transcripts (splice variants), 8 paralogues and is associated with 26 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000419022.1 | PAX6-201 | 6922 | 436aa | ENSP00000404100.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31452 | B1B1I8 B1B1I9 E5LBD7 F1T0F8 P26367 Q6VMP0 | NM_001258463.1 | 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, |
| ENST00000379129.2 | PAX6-009 | 2614 | 436aa | ENSP00000368424.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31452 | B1B1I8 B1B1I9 E5LBD7 F1T0F8 P26367 Q6VMP0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379107.2 | PAX6-011 | 2591 | 436aa | ENSP00000368401.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31452 | B1B1I8 B1B1I9 E5LBD7 F1T0F8 P26367 Q6VMP0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379132.3 | PAX6-008 | 2574 | 422aa | ENSP00000368427.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31451 | B1B1I8 D3DQZ8 E5LBD7 E9PKM0 P26367 Q66SS1 Q6VMP0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379123.5 | PAX6-003 | 2160 | 422aa | ENSP00000368418.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31451 | B1B1I8 D3DQZ8 E5LBD7 E9PKM0 P26367 Q66SS1 Q6VMP0 | NM_001258464.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379109.2 | PAX6-004 | 2157 | 422aa | ENSP00000368403.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B1I8 D3DQZ8 E5LBD7 E9PKM0 P26367 Q66SS1 Q6VMP0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000379115.4 | PAX6-001 | 1763 | 436aa | ENSP00000368410.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31452 | B1B1I8 B1B1I9 E5LBD7 F1T0F8 P26367 Q6VMP0 | NM_001604.5 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000241001.8 | PAX6-002 | 1631 | 422aa | ENSP00000241001.8 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31451 | B1B1I8 D3DQZ8 E5LBD7 E9PKM0 P26367 Q66SS1 Q6VMP0 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000379111.2 | PAX6-005 | 1627 | 422aa | ENSP00000368406.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS31451 | B1B1I8 D3DQZ8 E5LBD7 E9PKM0 P26367 Q66SS1 Q6VMP0 | NM_001258465.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000525535.1 | PAX6-020 | 677 | 2aa | ENSP00000436365.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000524853.1 | PAX6-021 | 574 | 57aa | ENSP00000431585.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B1I8 E9PKM0 Q6VMP0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000423822.2 | PAX6-012 | 567 | 61aa | ENSP00000388132.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B1I8 B1B1I9 Q6VMP0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000455099.1 | PAX6-016 | 497 | 124aa | ENSP00000397384.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B1I8 B1B1I9 B1B1J0 Q6VMP0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000438681.1 | PAX6-013 | 455 | 38aa | ENSP00000404356.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | B1B1I8 Q6VMP0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000533156.1 | PAX6-029 | 847 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000471303.1 | PAX6-014 | 782 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000531910.1 | PAX6-027 | 643 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000481563.1 | PAX6-015 | 613 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000530373.1 | PAX6-028 | 572 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000530714.1 | PAX6-025 | 567 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000534353.1 | PAX6-024 | 540 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000533333.1 | PAX6-019 | 6173 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000470027.2 | PAX6-006 | 2842 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000494377.2 | PAX6-007 | 2460 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000464174.1 | PAX6-010 | 979 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000474783.1 | PAX6-017 | 702 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000532916.1 | PAX6-030 | 627 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000534390.1 | PAX6-026 | 578 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000532175.1 | PAX6-023 | 524 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000527769.1 | PAX6-022 | 487 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
