Gene Detail

Gene Symbol BCOR
Synonyms ANOP2 | MAA2 | MCOPS2
Gene Description BCOR, BCL6 corepressor, functions with B-cell CLL/lymphoma 6 (BCL6) as a transcriptional silencer (PMID: 10898795, PMID: 16943429) and also suppresses MLLT3 (AF9) transcriptional activity (PMID: 12776190). BCOR mutations from internal tandem duplication (ITD; PMID: 28687574) and loss of function mutations are commonly found in hematological cancers (PMID: 28827447) and are also found in retinoblastoma and sarcomas of the bone and kidney (PMID: 28827447).
Entrez Id 54880
Chromosome X
Map Location Xp11.4
Canonical Transcript NM_001123385

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
G1588V missense unknown BCOR G1588V does not lie within any known functional domains of the Bcor protein (UniProt.org). G1588V has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R1131L missense unknown BCOR R1131L does not lie within any known functional domains of the Bcor protein (UniProt.org). R1131L has been identified in sequencing studies (PMID: 27566247), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
G154A missense unknown BCOR G154A does not lie within any known functional domains of the Bcor protein (UniProt.org). G154A has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
P654T missense unknown BCOR P654T does not lie within any known functional domains of the Bcor protein (UniProt.org). P654T has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
S116L missense unknown BCOR S116L does not lie within any known functional domains of the Bcor protein (UniProt.org). S116L has been identified in sequencing studies (PMID: 29296220), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
P921R missense unknown BCOR P921R does not lie within any known functional domains of the Bcor protein (UniProt.org). P921R has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
G549D missense unknown BCOR G549D does not lie within any known functional domains of the Bcor protein (UniProt.org). G549D has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
L325M missense unknown BCOR L325M does not lie within any known functional domains of the Bcor protein (UniProt.org). L325M has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
D438Y missense unknown BCOR D438Y does not lie within any known functional domains of the Bcor protein (UniProt.org). D438Y has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
P844S missense unknown BCOR P844S does not lie within any known functional domains of the Bcor protein (UniProt.org). P844S has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
mutant unknown unknown BCOR mutant indicates an unspecified mutation in the BCOR gene.
R1131Q missense unknown BCOR R1131Q does not lie within any known functional domains of the Bcor protein (UniProt.org). R1131Q has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
BCOR - RARA fusion gain of function BCOR-RARA results from the fusion of BCOR and RARA and has been identified in acute promyelocytic leukemia, resulting in the ability to bind the retinoic acid response element and altering RARA-driven transcription (PMID: 20807888).
S526L missense unknown BCOR S526L does not lie within any known functional domains of the Bcor protein (UniProt.org). S526L has been identified in sequencing studies (PMID: 29296220), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
G549C missense unknown BCOR G549C does not lie within any known functional domains of the Bcor protein (UniProt.org). G549C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
D1279Y missense unknown BCOR D1279Y does not lie within any known functional domains of the Bcor protein (UniProt.org). D1279Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
A1388S missense unknown BCOR A1388S does not lie within any known functional domains of the Bcor protein (UniProt.org). A1388S has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
L1456P missense unknown BCOR L1456P does not lie within any known functional domains of the Bcor protein (UniProt.org). L1456P has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R1164* nonsense unknown BCOR R1164* results in a premature truncation of the Bcor protein at amino acid 1164 of 1755 (UniProt.org). R1164* has been identified in sequencing studies (PMID: 24705251), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Mar 2019).
wild-type none no effect Wild-type BCOR indicates that no mutation has been detected within the BCOR gene.
P1451L missense unknown BCOR P1451L does not lie within any known functional domains of the Bcor protein (UniProt.org). P1451L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R810* nonsense unknown BCOR R810* results in a premature truncation of the Bcor protein at amino acid 810 of 1755 (UniProt.org). R810* has been identified in sequencing studies (PMID: 29237802, PMID: 27534895), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
A828T missense unknown BCOR A828T does not lie within any known functional domains of the Bcor protein (Uniprot.org). A828T has been identified in sequencing studies (PMID: 26314984), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
F977L missense unknown BCOR F977L does not lie within any known functional domains of the Bcor protein (UniProt.org). F977L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
S1271L missense unknown BCOR S1271L does not lie within any known functional domains of the Bcor protein (UniProt.org). S1271L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
D438N missense unknown BCOR D438N does not lie within any known functional domains of the Bcor protein (UniProt.org). D438N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
E1076K missense unknown BCOR E1076K does not lie within any known functional domains of the Bcor protein (UniProt.org). E1076K has been identified in sequencing studies (PMID: 30404791), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
D284N missense unknown BCOR D284N does not lie within any known functional domains of the Bcor protein (UniProt.org). D284N has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
N1459S missense unknown BCOR N1459S does not lie within any known functional domains of the Bcor protein (UniProt.org). N1459S has been identified in sequencing studies (PMID: 29570743, PMID: 27791010, PMID: 25231023), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
BCOR - CCNB3 fusion gain of function BCOR-CCNB3 results from the fusion of BCOR and CCNB3, resulting in a unique transcriptional signature consistent with Wnt activation and activation of S-phase in transformed cells (PMID: 22387997).
E1386Q missense unknown BCOR E1386Q does not lie within any known functional domains of the Bcor protein (UniProt.org). E1386Q has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
E1001K missense unknown BCOR E1001K does not lie within any known functional domains of the Bcor protein (UniProt.org). E1001K has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
G154E missense unknown BCOR G154E does not lie within any known functional domains of the Bcor protein (UniProt.org). G154E has not been characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
A172fs frameshift loss of function - predicted BCOR A172fs results in a change in the amino acid sequence of the Bcor protein beginning at aa 172 of 1755, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A172fs is predicted to lead to a loss of Bcor protein function.
S214* nonsense loss of function - predicted BCOR S214* results in a premature truncation of the Bcor protein at amino acid 214 of 1755 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S214* is predicted to lead to a loss of Bcor function.
V11I missense unknown BCOR V11I does not lie within any known functional domains of the Bcor protein (UniProt.org). V11I has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R266M missense unknown BCOR R266M does not lie within any known functional domains of the Bcor protein (UniProt.org). R266M has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
W509C missense unknown BCOR W509C lies within the BCL6-interacting region of the Bcor protein (UniProt.org). W509C has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
K219E missense unknown BCOR K219E does not lie within any known functional domains of the Bcor protein (UniProt.org). K219E has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
P921S missense unknown BCOR P921S does not lie within any known functional domains of the Bcor protein (UniProt.org). P921S has been identified in sequencing studies (PMID: 22622578), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R1031I missense unknown BCOR R1031I does not lie within any known functional domains of the Bcor protein (UniProt.org). R1031I has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
L1467M missense unknown BCOR L1467M lies within ANK repeat 1 of the Bcor protein (UniProt.org). L1467M has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
R1131W missense unknown BCOR R1131W does not lie within any known functional domains of the Bcor protein (UniProt.org). R1131W has been identified in sequencing studies (PMID: 27149842, PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Feb 2019).
Molecular Profile Protein Effect Treatment Approaches
BCOR G1588V unknown
BCOR R1131L unknown
BCOR G154A unknown
BCOR P654T unknown
BCOR S116L unknown
BCOR P921R unknown
BCOR G549D unknown
BCOR L325M unknown
BCOR D438Y unknown
BCOR P844S unknown
BCOR mut RUNX1 mut
BCOR mutant unknown
BCOR R1131Q unknown
BCOR-RARA gain of function
BCOR S526L unknown
BCOR G549C unknown
BCOR D1279Y unknown
BCOR A1388S unknown
BCOR L1456P unknown
BCOR R1164* unknown
BCOR wild-type no effect
BCOR P1451L unknown
BCOR R810* unknown
BCOR A828T unknown
BCOR F977L unknown
BCOR S1271L unknown
BCOR D438N unknown
BCOR E1076K unknown
BCOR D284N unknown
BCOR N1459S unknown
BCOR-CCNB3 gain of function
BCOR E1386Q unknown
BCOR E1001K unknown
BCOR G154E unknown
BCOR A172fs loss of function - predicted
BCOR S214* loss of function - predicted
BCOR V11I unknown
BCOR R266M unknown
BCOR W509C unknown
BCOR K219E unknown
BCOR P921S unknown
BCOR R1031I unknown
BCOR L1467M unknown
BCOR R1131W unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Pyridone 6 Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Pyridone 6 (CMP6) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Momelotinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Momelotinib (CYT387) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Ruxolitinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Jakafi (ruxolitinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mut RUNX1 mut acute myeloid leukemia predicted - sensitive Tofacitinib Preclinical - Patient cell culture Actionable In a preclinical study, co-occurrence of BCOR and RUNX1 mutations correlated with sensitivity to Xeljanz (tofacitinib) in patient-derived acute myeloid leukemia samples in an ex vivo assay (PMID: 30333627). 30333627
BCOR mutant kidney clear cell sarcoma not applicable N/A Clinical Study Emerging In multiple clinical analyses, internal tandem duplications of the BCOR gene were consistently found in clear cell sarcoma of the kidney (PMID: 26098867, PMID: 26516930, PMID: 26573325, PMID: 26150234), suggesting that this may serve as a future diagnostic biomarker. 26150234 26098867 26516930 26573325
BCOR mutant myelodysplastic syndrome not applicable N/A Guideline Prognostic BCOR mutations, including those at codon N1425, are associated with a poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...
BCOR-RARA acute promyelocytic leukemia sensitive Tretinoin Clinical Study Actionable In a clinical case study, a patient with acute promyelocytic leukemia harboring BCOR-RARA demonstrated sensitivity to treatment with Vesanoid (tretinoin) and achieved a complete response (PMID: 25790901). 25790901