Gene Detail

Gene Symbol BCORL1
Synonyms BCoR-L1 | CXorf10
Gene Description BCORL1, BCL6 corepressor-like 1, is a transcription corepressor and is involved in histone deacetylase activity (PMID: 17379597). BCORL1 mutations have been observed in acute myeloid leukemia while elevated expression of BCORL1 has been identified in hepatocellular carcinoma (PMID: 22210327, PMID: 26879601).
Entrez Id 63035
Chromosome X
Map Location Xq26.1
Canonical Transcript NM_021946

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
R945* nonsense loss of function - predicted BCORL1 R945* results in a premature truncation of the Bcorl1 protein at amino acid 945 of 1711 (UniProt.org). Due to the loss of all known functional domains (UnitProt.org), R945* is predicted to lead to a loss of Bcorl1 protein function.
H993Y missense unknown BCORL1 H993Y does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). H993Y has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1536C missense unknown BCORL1 R1536C lies within ANK repeat 3 of the Bcorl1 protein (UniProt.org). R1536C has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
P714T missense unknown BCORL1 P714T does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). P714T has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
E1685* nonsense unknown BCORL1 E1685* results in a premature truncation of the Bcorl1 protein at amino acid 1685 of 1711 (UniProt.org). E1685* has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
A257S missense unknown BCORL1 A257S does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). A257S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R789L missense unknown BCORL1 R789L does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R789L has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
T799I missense unknown BCORL1 T799I does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). T799I has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R789H missense unknown BCORL1 R789H does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R789H has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
BCORL1 - ELF4 fusion loss of function BCORL1-ELF4 results from the fusion of BCORL1 and ELF4 (PMID: 21499249). BCORL1-ELF4 has been identified in hepatocellular carcinoma (PMID: 21499249) and confers a loss of function, as demonstrated by decreased transcriptional repressor activity in luciferase reporter assays (PMID: 2149924, PMID: 26921333) and loss of the ability to inhibit cell growth in culture (PMID: 26921333).
V1096I missense unknown BCORL1 V1096I does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). V1096I has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
D1569V missense unknown BCORL1 D1569V does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). D1569V has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
L1538F missense unknown BCORL1 L1538F lies within ANK repeat 3 of the Bcorl1 protein (UniProt.org). L1538F has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
E1157K missense unknown BCORL1 E1157K does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). E1157K has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
K1207N missense unknown BCORL1 K1207N does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). K1207N has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
C1422F missense unknown BCORL1 C1422F does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). C1422F has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
T345M missense unknown BCORL1 T345M does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). T345M has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
W1468L missense unknown BCORL1 W1468L lies within ANK repeat 1 of the Bcorl1 protein (UniProt.org). W1468L has not been characterized and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
A157T missense unknown BCORL1 A157T does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). A157T has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
P1218S missense unknown BCORL1 P1218S does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). P1218S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1090* nonsense loss of function - predicted BCORL1 R1090* results in a premature truncation of the Bcorl1 protein at amino acid 1090 of 1711 (UniProt.org). Due to the loss of all known functional domains (UnitProt.org), R1090* is predicted to lead to a loss of Bcorl1 protein function.
D90Y missense unknown BCORL1 D90Y does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). D90Y has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
S1279I missense unknown BCORL1 S1279I does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). S1279I has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
over exp none no effect BCORL1 over exp indicates an over expression of the Bcorl1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
R1224H missense unknown BCORL1 R1224H does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R1224H has not been characterized and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
D1514Y missense unknown BCORL1 D1514Y lies within ANK repeat 2 of the Bcorl1 protein (UniProt.org). D1514Y has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
D1627N missense unknown BCORL1 D1627N does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). D1627N has not been characterized and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
S1563F missense unknown BCORL1 S1563F does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). S1563F has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1658K missense unknown BCORL1 R1658K does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R1658K has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
N1387D missense unknown BCORL1 N1387D does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). N1387D has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R639S missense unknown BCORL1 R639S does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R639S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1466W missense unknown BCORL1 R1466W lies within the ANK 1 repeat domain of the Bcorl1 protein (UniProt.org). R1466W has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
P564L missense unknown BCORL1 P564L does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). P564L has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
P968S missense unknown BCORL1 P968S does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). P968S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
D90G missense unknown BCORL1 D90G does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). D90G has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R21C missense unknown BCORL1 R21C does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R21C has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
Q1133R missense unknown BCORL1 Q1133R does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). Q1133R has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
L884fs frameshift loss of function - predicted BCORL1 L884fs results in a change in the amino acid sequence of the Bcorl1 protein beginning at aa 884 of 1711, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L884fs is predicted to result in a loss of Bcorl1 protein function.
L1605R missense unknown BCORL1 L1605R does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). L1605R has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
A1525S missense unknown BCORL1 A1525S lies within ANK repeat 3 of the Bcorl1 protein (UniProt.org). A1525S has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
L84R missense unknown BCORL1 L84R does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). L84R has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1548P missense unknown BCORL1 R1548P lies within ANK repeat 3 of the Bcorl1 protein (UniProt.org). R1548P has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
S1702F missense unknown BCORL1 S1702F does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). S1702F has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
V1430I missense unknown BCORL1 V1430I does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). V1430I has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
C1573Lfs*2 frameshift unknown BCORL1 C1573Lfs*2 indicates a shift in the reading frame starting at amino acid 1573 and terminating 2 residues downstream causing a premature truncation of the 1711 amino acid Bcorl1 protein (UniProt.org). C1573Lfs*2 has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
R1658M missense unknown BCORL1 R1658M does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). R1658M has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
E1655D missense unknown BCORL1 E1655D does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). E1655D has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
Q1191K missense unknown BCORL1 Q1191K does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). Q1191K has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
S210L missense unknown BCORL1 S210L does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). S210L has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
S803Y missense unknown BCORL1 S803Y does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). S803Y has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
D1627G missense unknown BCORL1 D1627G does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). D1627G has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
L1132I missense unknown BCORL1 L1132I does not lie within any known functional domains of the Bcorl1 protein (UniProt.org). L1132I has not been characterized in the scientific literature and therefore, its effect on Bcorl1 protein function is unknown (PubMed, Mar 2018).
E692* nonsense loss of function - predicted BCORL1 E692* results in a premature truncation of the Bcorl1 protein at amino acid 692 of 1711 (UniProt.org). Due to the loss of all known functional domains (UnitProt.org), E692* is predicted to lead to a loss of Bcorl1 protein function.
Molecular Profile Protein Effect Treatment Approaches
BCORL1 R945* loss of function - predicted
BCORL1 H993Y unknown
BCORL1 R1536C unknown
BCORL1 P714T unknown
BCORL1 E1685* unknown
BCORL1 A257S unknown
BCORL1 R789L unknown
BCORL1 T799I unknown
BCORL1 R789H unknown
BCORL1-ELF4 loss of function
BCORL1 V1096I unknown
BCORL1 D1569V unknown
BCORL1 L1538F unknown
BCORL1 E1157K unknown
BCORL1 K1207N unknown
BCORL1 C1422F unknown
BCORL1 T345M unknown
BCORL1 W1468L unknown
BCORL1 A157T unknown
BCORL1 P1218S unknown
BCORL1 R1090* loss of function - predicted
BCORL1 D90Y unknown
BCORL1 S1279I unknown
BCORL1 over exp no effect
BCORL1 R1224H unknown
BCORL1 D1514Y unknown
BCORL1 D1627N unknown
BCORL1 S1563F unknown
BCORL1 R1658K unknown
BCORL1 N1387D unknown
BCORL1 R639S unknown
BCORL1 R1466W unknown
BCORL1 P564L unknown
BCORL1 P968S unknown
BCORL1 D90G unknown
BCORL1 R21C unknown
BCORL1 Q1133R unknown
BCORL1 L884fs loss of function - predicted
BCORL1 L1605R unknown
BCORL1 A1525S unknown
BCORL1 L84R unknown
BCORL1 R1548P unknown
BCORL1 S1702F unknown
BCORL1 V1430I unknown
BCORL1 C1573Lfs*2 unknown
BCORL1 R1658M unknown
BCORL1 E1655D unknown
BCORL1 Q1191K unknown
BCORL1 S210L unknown
BCORL1 S803Y unknown
BCORL1 D1627G unknown
BCORL1 L1132I unknown
BCORL1 E692* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BCORL1 over exp hepatocellular carcinoma not applicable N/A Clinical Study Emerging In a clinical study, BCORL1 over expression was associated with decreased overall survival and recurrence-free survival in patients with hepatocellular carcinoma (PMID: 26879601), suggesting that this may serve as a future prognostic biomarker. 26879601