Gene Gene information from NCBI Gene database.
Entrez ID 63035
Gene name BCL6 corepressor like 1
Gene symbol BCORL1
Synonyms (NCBI Gene)
BCoR-L1CXorf10SHUVER
Chromosome X
Chromosome location Xq26.1
Summary The protein encoded by this gene is a transcriptional corepressor that is found tethered to promoter regions by DNA-binding proteins. The encoded protein can interact with several different class II histone deacetylases to repress transcription. Two trans
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs398123004 A>G Pathogenic Missense variant, coding sequence variant
rs1057521638 C>T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs1488781894 T>A Pathogenic Missense variant, coding sequence variant
rs1603105985 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, missense variant
rs1603113792 C>T Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
167
miRTarBase ID miRNA Experiments Reference
MIRT020688 hsa-miR-155-5p Other 20584899
MIRT026121 hsa-miR-192-5p Microarray 19074876
MIRT052199 hsa-let-7b-5p CLASH 23622248
MIRT048203 hsa-miR-196a-5p CLASH 23622248
MIRT036752 hsa-miR-760 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0003714 Function Transcription corepressor activity IBA
GO:0005515 Function Protein binding IPI 23523425, 38342987
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300688 25657 ENSG00000085185
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5H9F3
Protein name BCL-6 corepressor-like protein 1 (BCoR-L1) (BCoR-like protein 1)
Protein function Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence-specific DNA-binding proteins such as BCL6. This repression may be mediated at least in part by histone deacetylase activities w
PDB 4HPM , 5JH5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15808 BCOR 1221 1464 BCL-6 co-repressor, non-ankyrin-repeat region Family
PF12796 Ank_2 1425 1519 Ankyrin repeats (3 copies) Repeat
PF16553 PUFD 1593 1710 BCORL-PCGF1-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in testis and prostate. Detected at lower levels in peripheral blood leukocytes and spleen. Mainly expressed in the spermatogonia and primary spermatocytes (PubMed:38342987). {ECO:0000269|PubMed:17379597, ECO:0000269|PubMed:38
Sequence
MISTAPLYSGVHNWTSSDRIRMCGINEERRAPLSDEESTTGDCQHFGSQEFCVSSSFSKV
ELTAVGSGSNARGADPDGSATEKLGHKSEDKPDDPQPKMDYAGNVAEAEGFLVPLSSPGD
GLKLPASDSAEASNSRADCSWTPLNTQMSKQVDCSPAGVKALDSRQGVGEKNTFILATLG
TGVPVEGTLPLVTTNFSPLPAPICPPAPGSASVPHSVPDAFQVPLSVPAPVPHSGLVPVQ
VATSVPAPSPPLAPVPALAPAPPSVPTLISDSNPLSVSASVLVPVPASAPPSGPVPLSAP
APAPLSVPVSAPPLALIQAPVPPSAPTLVLAPVPTPVLAPMPASTPPAAPAPPSVPMPTP
TPSSGPPSTPTLIPAFAPTPVPAPTPAPIFTPAPTPMPAATPAAIPTSAPIPASFSLSRV
CFPAAQAPAMQKVPLSFQPGTVLTPSQPLVYIPPPSCGQPLSVATLPTTLGVSSTLTLPV
LPSYLQDRCLPGVLASPELRSYPYAFSVARPLTSDSKLVSLEVNRLPCTSPSGSTTTQPA
PDGVPGPLADTSLVTASAKVLPTPQPLLPAPSGSSAPPHPAKMPSGTEQQTEGTSVTFSP
LKSPPQLEREMASPPECSEMPLDLSSKSNRQKLPLPNQRKTPPMPVLTPVHTSSKALLST
VLSRSQRTTQAAGGNVTSCLGSTSSPFVIFPEIVRNGDPSTWVKNSTALISTIPGTYVGV
ANPVPASLLLNKDPNLGLNRDPRHLPKQEPISIIDQGEPKGTGATCGKKGSQAGAEGQPS
TVKRYTPARIAPGLPGCQTKELSLWKPTGPANIYPRCSVNGKPTSTQVLPVGWSPYHQAS
LLSIGISSAGQLTPSQGAPIRPTSVVSEFSGVPSLSSSEAVHGLPEGQPRPGGSFVPEQD
PVTKNKTCRIAAKPYEEQVNPVLLTLSPQTGTLALSVQPSGGDIRMNQGPEESESHLCSD
STPKMEGPQGACGLKLAGDTKPKNQVLATYMSHELVLATPQNLPKMPELPLLPHDSHPKE
LILDVVPSSRRGSSTERPQLGSQVDLGRVKMEKVDGDVVFNLATCFRADGLPVAPQRGQA
EVRAKAGQARVKQESVGVFACKNKWQPDDVTESLPPKKMKCGKEKDSEEQQLQPQAKAVV
RSSHRPKCRKLPSDPQESTKKSPRGASDSGKEHNGVRGKHKHRKPTKPESQSPGKRADSH
EEGSLEKKAKSSFRDFIPVVLSTRTRSQSGSICSSFAGMADSDMGSQEVFPTEEEEEVTP
TPAKRRKVRKTQRDTQYRSHHAQDKSLLSQGRRHLWRAREMPWRTEAARQMWDTNEEEEE
EEEEGLLKRKKRRRQKSRKYQTGEYLTEQEDEQRRKGRADLKARKQKTSSSQSLEHRLRN
RNLLLPNKVQGISDSPNGFLPNNLEEPACLENSEKPSGKRKCKT
KHMATVSEEAKDVVLY
CLQKDSEDVNHRDNAGYTALHEAC
SRGWTDILNILLEHGANVNCSAQDGTRPVHDAVVND
NLETIWLLLSYGADPTLAT
YSGQTAMKLASSDTMKRFLSDHLSDLQGRAEGDPGVSWDFY
SSSVLEEKDGFACDLLHNPPGSSDQEGDDPMEEDDFMFELSDKPLLPCYNLQVSVSRGPC
NWFLFSDVLKRLKLSSRIFQARFPHFEITTMPKAEFYRQVASSQLLTPAERPGGLDDRSP
PGSSETVELVRYEPDLLRLLGSEVEFQSCN
S
Sequence length 1711
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Polycomb repressive complex  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic rs1464137864 RCV001281108
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma Likely pathogenic rs1603113792 RCV000984114
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay Pathogenic rs2522832906 RCV003223496
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligoasthenoteratozoospermia Pathogenic rs750640150, rs199973665 RCV004595690
RCV004579615
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BCORL1-related disorder Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 28063196
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24515802
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 21989985
★☆☆☆☆
Found in Text Mining only
Agenesis of Corpus Callosum Corpus callosum agenesis Pubtator 34400773 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 26132940, 36499545 Associate
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 27121470
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 30051528 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Autistic behavior Autism HPO_DG
★☆☆☆☆
Found in Text Mining only