Description
breast cancer 1, early onset
Synonyms
RNF53, PPP1R53, BRCC1, FANCS
Location
Chromosome 17: 43,044,295-43,170,245 reverse strand.
VEGA68:CM000679.2
About this gene
This gene has 30 transcripts (splice variants).
Transcripts
Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt | Flags |
---|---|---|---|---|---|---|---|---|
BRCA1-001 | OTTHUMT00000348798.2 | 7094 | 1863aa | OTTHUMP00000212143 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11453 | P38398 | |
BRCA1-005 | OTTHUMT00000348802.2 | 5936 | 1884aa | OTTHUMP00000212147 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11456 | - | |
BRCA1-006 | OTTHUMT00000348803.1 | 5732 | 1816aa | OTTHUMP00000212148 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11459 | - | |
BRCA1-007 | OTTHUMT00000348804.1 | 3273 | 699aa | OTTHUMP00000212149 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11455 | - | |
BRCA1-014 | OTTHUMT00000348811.3 | 2379 | 759aa | OTTHUMP00000212155 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | CCDS11454 | A0A024R1V0 | |
BRCA1-012 | OTTHUMT00000348809.2 | 4497 | 1399aa | OTTHUMP00000275457 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | Q5YLB2 | |
BRCA1-029 | OTTHUMT00000476275.1 | 3668 | 721aa | OTTHUMP00000275469 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A024R1Z8 | |
BRCA1-030 | OTTHUMT00000488553.2 | 2534 | 798aa | OTTHUMP00000281524 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | A0A0U1RRA9 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-011 | OTTHUMT00000348808.2 | 2108 | 649aa | OTTHUMP00000212153 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7EWN5 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-004 | OTTHUMT00000348801.2 | 1980 | 622aa | OTTHUMP00000212146 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E9PH68 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-009 | OTTHUMT00000348806.1 | 1972 | 623aa | OTTHUMP00000212151 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7EUM2 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-008 | OTTHUMT00000348805.2 | 1948 | 572aa | OTTHUMP00000212150 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | B7ZA85 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-013 | OTTHUMT00000348810.2 | 1612 | 473aa | OTTHUMP00000212154 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | Q3B891 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-015 | OTTHUMT00000348812.2 | 1495 | 498aa | OTTHUMP00000212156 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0Y8B8 | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
BRCA1-024 | OTTHUMT00000453114.1 | 1282 | 354aa | OTTHUMP00000265375 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7EPC7 | |
BRCA1-018 | OTTHUMT00000348815.2 | 958 | 319aa | OTTHUMP00000212159 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0Y8D8 | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
BRCA1-019 | OTTHUMT00000348816.3 | 800 | 266aa | OTTHUMP00000212160 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0Y881 | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
BRCA1-023 | OTTHUMT00000453113.1 | 781 | 173aa | OTTHUMP00000265374 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | C6YB45 | |
BRCA1-003 | OTTHUMT00000348800.3 | 779 | 177aa | OTTHUMP00000212145 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | C9IZW4 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-017 | OTTHUMT00000348814.3 | 769 | 222aa | OTTHUMP00000212158 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7EQW4 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-022 | OTTHUMT00000348819.2 | 726 | 242aa | OTTHUMP00000212162 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | H0Y850 | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete |
BRCA1-027 | OTTHUMT00000475526.2 | 718 | 23aa | OTTHUMP00000275365 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-025 | OTTHUMT00000453115.1 | 563 | 96aa | OTTHUMP00000265376 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | K7EJW3 | |
BRCA1-016 | OTTHUMT00000348813.2 | 455 | 98aa | OTTHUMP00000212157 | <p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding | - | E7ENB7 | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete |
BRCA1-026 | OTTHUMT00000453116.2 | 1312 | 437aa | OTTHUMP00000265377 | Non stop decay | - | A0A0A0MSN1 | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete |
BRCA1-010 | OTTHUMT00000348807.1 | 5693 | 63aa | OTTHUMP00000212152 | 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 | - | - | |
BRCA1-002 | OTTHUMT00000348799.1 | 1584 | 59aa | OTTHUMP00000212144 | 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 | - | E9PC22 | |
BRCA1-020 | OTTHUMT00000348817.1 | 582 | 63aa | OTTHUMP00000212161 | 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 | - | - | |
BRCA1-028 | OTTHUMT00000475525.1 | 375 | 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 | - | - | |
BRCA1-021 | OTTHUMT00000348818.1 | 561 | 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 | - | - |