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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).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
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, Sep 2020).
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.
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, Sep 2020).
act mut unknown gain of function BCOR act mut indicates that this variant results in a gain of function in the Bcor protein. However, the specific amino acid change has not been identified.
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).
BCOR - CREBBP fusion unknown BCOR-CREBBP results from the fusion of BCOR and CREBBP (PMID: 32493417). BCOR-CREBBP has been identified in pediatric astrocytoma (PMID: 32493417), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - L3MBTL2 fusion unknown BCOR-L3MBTL2 results from the fusion of BCOR and L3MBTL2 (PMID: 32156473). BCOR-L3MBTL2 has been identified in endometrial stromal sarcoma (PMID: 32156473) and glioma (PMID: 32493417), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - MAML3 fusion unknown BCOR-MAML3 results from the fusion of BCOR and MAML3 (PMID: 26752546). BCOR-MAML3 has been identified in undifferentiated small blue round cell sarcomas, and results in the upregulation of BCOR and MAML3 mRNA in patient samples (PMID: 26752546), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Aug 2020).
BCOR - MAP7D2 fusion unknown BCOR-MAP7D2 results from the fusion of BCOR and MAP7D2 (PMID: 32156473). BCOR-MAP7D2 has been identified in endometrial stromal sarcoma (PMID: 32156473), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - NUGGC fusion unknown BCOR-NUGGC results from the fusion of BCOR and NUGGC (PMID: 32156473). BCOR-NUGGC has been identified in endometrial stromal sarcoma (PMID: 32156473), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - NUTM2G fusion unknown BCOR-NUTM2G results from the fusion of BCOR and NUTM2G (PMID: 32156473). BCOR-NUTM2G has been identified in endometrial stromal sarcoma (PMID: 32156473), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - RALGPS1 fusion unknown BCOR-RALGPS1 results from the fusion of BCOR and RALGPS1 (PMID: 32156473). BCOR-RALGPS1 has been identified in endometrial stromal sarcoma (PMID: 32156473), but has not been biochemically characterized and therefore, the effect on protein function is unknown (PubMed, Jul 2020).
BCOR - RARA fusion gain of function BCOR-RARA results from the fusion of BCOR and RARA, resulting in the ability to bind the retinoic acid response element and alteration of RARA-driven transcription (PMID: 20807888). BCOR-RARA has been identified in acute promyelocytic leukemia (PMID: 20807888).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
E1477* nonsense loss of function - predicted BCOR E1477* results in a premature truncation of the Bcor protein at amino acid 1477 of 1755 (UniProt.org). E1477* results in a loss of interaction with Bcor complex proteins Nspc1 and Fbxl10 in cell culture (PMID: 16943429), and therefore, is predicted to lead to a loss of Bcor protein function.
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, Sep 2020).
fusion fusion unknown BCOR fusion indicates a fusion of the BCOR gene, but the fusion partner is unknown.
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Sep 2020).
inact mut unknown loss of function BCOR inact mut indicates that this variant results in a loss of function of the Bcor protein. However, the specific amino acid change has not been identified.
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, Sep 2020).
K839Qfs*5 frameshift unknown BCOR K839Qfs*5 indicates a shift in the reading frame starting at amino acid 839 and terminating 5 residues downstream causing a premature truncation of the 1755 amino acid Bcor protein (UniProt.org). K839Qfs*5 has not been characterized in the scientific literature and therefore, its effect on Bcor protein function is unknown (PubMed, May 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
mutant unknown unknown BCOR mutant indicates an unspecified mutation in the BCOR gene.
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, Sep 2020).
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, Sep 2020).
P654T missense unknown BCOR P654T does not lie within any known functional domains of the Bcor protein (UniProt.org). P654T has been identified in sequencing studies (PMID: 29681454), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Sep 2020).
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, Apr 2020).
R1217* nonsense unknown BCOR R1217* results in a premature truncation of the Bcor protein at amino acid 1217 of 1755 (UniProt.org). R1217* has been identified in sequencing studies (PMID: 24030381), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, May 2020).
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, Sep 2020).
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: 23917401), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, Apr 2020).
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, Sep 2020).
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, Sep 2020).
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.
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, Sep 2020).
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, Sep 2020).
V1701G missense unknown BCOR V1701G lies within the PCGF1-interacting region of the Bcor protein (UniProt.org). V1701G has been identified in the scientific literature (PMID: 28560052), but has not been biochemically characterized and therefore, its effect on Bcor protein function is unknown (PubMed, May 2020).
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, Sep 2020).
wild-type none no effect Wild-type BCOR indicates that no mutation has been detected within the BCOR gene.