Description
cerebral cavernous malformation 2
Synonyms
MGC4607, OSM
Location
Chromosome 7: 44,999,475-45,076,467 forward strand.
VEGA68:CM000669.2
About this gene
This gene has 16 transcripts (splice variants) and 1 orthologue.
Transcripts
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
|---|---|---|---|---|---|---|---|---|
| CCM2-001 | OTTHUMT00000251348.1 | 1894 | 444aa | OTTHUMP00000159554 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS5500 | Q9BSQ5 | |
| CCM2-002 | OTTHUMT00000353675.1 | 2471 | 438aa | OTTHUMP00000214270 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
| CCM2-016 | OTTHUMT00000353689.1 | 1532 | 347aa | OTTHUMP00000214273 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | |
| CCM2-014 | OTTHUMT00000353687.2 | 406 | 135aa | OTTHUMP00000214272 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
| CCM2-010 | OTTHUMT00000353683.1 | 1719 | 271aa | OTTHUMP00000214271 | Transcript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins. Nonsense mediated decay | - | - | |
| CCM2-003 | OTTHUMT00000353676.1 | 1983 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-006 | OTTHUMT00000353679.1 | 1459 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-007 | OTTHUMT00000353680.1 | 981 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-012 | OTTHUMT00000353685.1 | 937 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-011 | OTTHUMT00000353684.1 | 542 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-013 | OTTHUMT00000353686.1 | 533 | No protein | - | <p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript | - | - | |
| CCM2-004 | OTTHUMT00000353677.1 | 5304 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| CCM2-005 | OTTHUMT00000353678.1 | 2050 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| CCM2-008 | OTTHUMT00000353681.1 | 1136 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| CCM2-009 | OTTHUMT00000353682.1 | 1061 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - | |
| CCM2-015 | OTTHUMT00000353688.1 | 549 | No protein | - | <p>Alternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.</p>Retained intron | - | - |
