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

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
mutant unknown unknown BCOR mutant indicates an unspecified mutation in the BCOR gene.
W509C missense unknown BCOR W509C lies within the Bcl6 interaction region of the Bcor protein (UniProt.org). W509C has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
G549D missense unknown BCOR G549D does not lie within any known functional domains of the Bcor protein (UniProt.org). G549D has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
wild-type none no effect Wild-type BCOR indicates that no mutation has been detected within the BCOR gene.
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.
P921R missense unknown BCOR P921R does not lie within any known functional domains of the Bcor protein (UniProt.org). P921R has not been characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
D1279Y missense unknown BCOR D1279Y does not lie within any known functional domains of the Bcor protein (UniProt.org). D1279Y has not been characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
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, Oct 2017).
G154E missense unknown BCOR G154E does not lie within any known functional domains of the Bcor protein (UniProt.org). G154E has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
E1076K missense unknown BCOR E1076K does not lie within any known functional domains of the Bcor protein (UniProt.org). E1076K has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
K219E missense unknown BCOR K219E does not lie within any known functional domains of the Bcor protein (UniProt.org). K219E has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
S526L missense unknown BCOR S526L does not lie within any known functional domains of the Bcor protein (UniProt.org). S526L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
R810* nonsense unknown BCOR R810* results in a premature truncation of the Bcor protein at amino acid 810 of 1755 (UniProt.org). R810* has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
R1131W missense unknown BCOR R1131W does not lie within any known functional domains of the Bcor protein (UniProt.org). R1131W has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
G549C missense unknown BCOR G549C does not lie within any known functional domains of the Bcor protein (UniProt.org). G549C has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
R1131L missense unknown BCOR R1131L does not lie within any known functional domains of the Bcor protein (UniProt.org). R1131L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
E1386Q missense unknown BCOR E1386Q does not lie within any known functional domains of the Bcor protein (UniProt.org). E1386Q has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
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, Oct 2017).
A1388S missense unknown BCOR A1388S does not lie within any known functional domains of the Bcor protein (UniProt.org). A1388S has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
D438N missense unknown BCOR D438N does not lie within any known functional domains of the Bcor protein (UniProt.org). D438N has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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 germline sequencing studies and may lead to a loss of function in the Bcor protein (PMID: 25337074).
S116L missense unknown BCOR S116L does not lie within any known functional domains of the Bcor protein (UniProt.org). S116L has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
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, Oct 2017).
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, Oct 2017).
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, Oct 2017).
L1467M missense unknown BCOR L1467M lies within the ANK 1 repeat domain 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, Oct 2017).
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).
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: 27791010), but has not been biochemically characterized and therefore, its effect on Bcro protein function is unknown (PubMed, Oct 2017).
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).
R266M missense unknown BCOR R266M does not lie within any known functional domains of the Bcor protein (UniProt.org). R266M has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
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.
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, Oct 2017).
P921S missense unknown BCOR P921S does not lie within any known functional domains of the Bcor protein (UniProt.org). P921S has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
L1456P missense unknown BCOR L1456P does not lie within any known functional domains of the Bcor protein (UniProt.org). L1456P has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
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, Oct 2017).
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, Oct 2017).
A828T missense unknown BCOR A828T does not lie within any known functional domains of the Bcor protein (Uniprot.org). A828T has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, Oct 2017).
Molecular Profile Protein Effect Treatment Approaches
BCOR mutant unknown
BCOR W509C unknown
BCOR G549D unknown
BCOR wild-type no effect
BCOR A172fs loss of function - predicted
BCOR P921R unknown
BCOR D1279Y unknown
BCOR D438Y unknown
BCOR E1001K unknown
BCOR G154E unknown
BCOR P1451L unknown
BCOR E1076K unknown
BCOR K219E unknown
BCOR S526L unknown
BCOR R810* unknown
BCOR R1131W unknown
BCOR R1131Q unknown
BCOR G549C unknown
BCOR R1131L unknown
BCOR E1386Q unknown
BCOR G154A unknown
BCOR G1588V unknown
BCOR A1388S unknown
BCOR D438N unknown
BCOR R1164* unknown
BCOR S116L unknown
BCOR P844S unknown
BCOR D284N unknown
BCOR V11I unknown
BCOR F977L unknown
BCOR L1467M unknown
BCOR-CCNB3 gain of function
BCOR N1459S unknown
BCOR-RARA gain of function
BCOR R266M unknown
BCOR P654T unknown
BCOR S214* loss of function - predicted
BCOR L325M unknown
BCOR P921S unknown
BCOR L1456P unknown
BCOR S1271L unknown
BCOR R1031I unknown
BCOR A828T unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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-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