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 24 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 | 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 | - | - | - |
