Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (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

167

Show/Hide all (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
MIRT640166	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT640165	hsa-miR-587	HITS-CLIP	23824327
MIRT640166	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT640165	hsa-miR-587	HITS-CLIP	23824327
MIRT636873	hsa-miR-892b	HITS-CLIP	23824327
MIRT636872	hsa-miR-3119	HITS-CLIP	23824327
MIRT543039	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT543038	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT543037	hsa-miR-3924	PAR-CLIP	20371350
MIRT543036	hsa-miR-6083	PAR-CLIP	20371350
MIRT543035	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543039	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543038	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543037	hsa-miR-3924	PAR-CLIP	21572407
MIRT543036	hsa-miR-6083	PAR-CLIP	21572407
MIRT543035	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT486256	hsa-miR-4667-3p	PAR-CLIP	23592263
MIRT486255	hsa-miR-660-3p	PAR-CLIP	23592263
MIRT486253	hsa-miR-4285	PAR-CLIP	23592263
MIRT486254	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT486252	hsa-miR-4290	PAR-CLIP	23592263
MIRT640166	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT640165	hsa-miR-587	HITS-CLIP	23824327
MIRT640166	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT640165	hsa-miR-587	HITS-CLIP	23824327
MIRT636873	hsa-miR-892b	HITS-CLIP	23824327
MIRT636872	hsa-miR-3119	HITS-CLIP	23824327
MIRT543039	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT543038	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT543037	hsa-miR-3924	PAR-CLIP	20371350
MIRT543036	hsa-miR-6083	PAR-CLIP	20371350
MIRT543035	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT543039	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543038	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT543037	hsa-miR-3924	PAR-CLIP	21572407
MIRT543036	hsa-miR-6083	PAR-CLIP	21572407
MIRT543035	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT486256	hsa-miR-4667-3p	PAR-CLIP	23592263
MIRT486255	hsa-miR-660-3p	PAR-CLIP	23592263
MIRT486253	hsa-miR-4285	PAR-CLIP	23592263
MIRT486254	hsa-miR-5008-5p	PAR-CLIP	23592263
MIRT486252	hsa-miR-4290	PAR-CLIP	23592263
MIRT820258	hsa-miR-1207-5p	CLIP-seq
MIRT820259	hsa-miR-1252	CLIP-seq
MIRT820260	hsa-miR-143	CLIP-seq
MIRT820261	hsa-miR-146a	CLIP-seq
MIRT820262	hsa-miR-146b-5p	CLIP-seq
MIRT820263	hsa-miR-1972	CLIP-seq
MIRT820264	hsa-miR-24	CLIP-seq
MIRT820265	hsa-miR-2467-5p	CLIP-seq
MIRT820266	hsa-miR-3125	CLIP-seq
MIRT820267	hsa-miR-3129-3p	CLIP-seq
MIRT820268	hsa-miR-3150b-3p	CLIP-seq
MIRT820269	hsa-miR-3154	CLIP-seq
MIRT820270	hsa-miR-3179	CLIP-seq
MIRT820271	hsa-miR-3192	CLIP-seq
MIRT820272	hsa-miR-342-5p	CLIP-seq
MIRT820273	hsa-miR-3616-3p	CLIP-seq
MIRT820274	hsa-miR-3689a-3p	CLIP-seq
MIRT820275	hsa-miR-3689c	CLIP-seq
MIRT820276	hsa-miR-3689d	CLIP-seq
MIRT820277	hsa-miR-3916	CLIP-seq
MIRT820278	hsa-miR-3918	CLIP-seq
MIRT820279	hsa-miR-3922-5p	CLIP-seq
MIRT820280	hsa-miR-3936	CLIP-seq
MIRT820281	hsa-miR-4270	CLIP-seq
MIRT820282	hsa-miR-4279	CLIP-seq
MIRT820283	hsa-miR-4330	CLIP-seq
MIRT820284	hsa-miR-4441	CLIP-seq
MIRT820285	hsa-miR-4446-3p	CLIP-seq
MIRT820286	hsa-miR-4464	CLIP-seq
MIRT820287	hsa-miR-4475	CLIP-seq
MIRT820288	hsa-miR-4476	CLIP-seq
MIRT820289	hsa-miR-4492	CLIP-seq
MIRT820290	hsa-miR-4498	CLIP-seq
MIRT820291	hsa-miR-4505	CLIP-seq
MIRT820292	hsa-miR-4529-5p	CLIP-seq
MIRT820293	hsa-miR-4533	CLIP-seq
MIRT820294	hsa-miR-455-3p	CLIP-seq
MIRT820295	hsa-miR-4651	CLIP-seq
MIRT820296	hsa-miR-4664-5p	CLIP-seq
MIRT820297	hsa-miR-4677-3p	CLIP-seq
MIRT820298	hsa-miR-4685-5p	CLIP-seq
MIRT820299	hsa-miR-4688	CLIP-seq
MIRT820300	hsa-miR-4707-5p	CLIP-seq
MIRT820301	hsa-miR-4721	CLIP-seq
MIRT820302	hsa-miR-4726-3p	CLIP-seq
MIRT820303	hsa-miR-4728-5p	CLIP-seq
MIRT820304	hsa-miR-4748	CLIP-seq
MIRT820305	hsa-miR-4753-5p	CLIP-seq
MIRT820306	hsa-miR-4763-3p	CLIP-seq
MIRT820307	hsa-miR-4770	CLIP-seq
MIRT820308	hsa-miR-4784	CLIP-seq
MIRT820309	hsa-miR-4797-3p	CLIP-seq
MIRT820310	hsa-miR-486-3p	CLIP-seq
MIRT820311	hsa-miR-589	CLIP-seq
MIRT820312	hsa-miR-608	CLIP-seq
MIRT820313	hsa-miR-627	CLIP-seq
MIRT820314	hsa-miR-762	CLIP-seq
MIRT820315	hsa-miR-765	CLIP-seq
MIRT820316	hsa-miR-924	CLIP-seq
MIRT820258	hsa-miR-1207-5p	CLIP-seq
MIRT1942404	hsa-miR-1290	CLIP-seq
MIRT1942405	hsa-miR-3133	CLIP-seq
MIRT820270	hsa-miR-3179	CLIP-seq
MIRT820271	hsa-miR-3192	CLIP-seq
MIRT1942406	hsa-miR-3612	CLIP-seq
MIRT1942407	hsa-miR-361-3p	CLIP-seq
MIRT820273	hsa-miR-3616-3p	CLIP-seq
MIRT1942408	hsa-miR-3679-3p	CLIP-seq
MIRT820281	hsa-miR-4270	CLIP-seq
MIRT820282	hsa-miR-4279	CLIP-seq
MIRT1942409	hsa-miR-4314	CLIP-seq
MIRT820284	hsa-miR-4441	CLIP-seq
MIRT1942410	hsa-miR-4443	CLIP-seq
MIRT1942411	hsa-miR-4457	CLIP-seq
MIRT1942412	hsa-miR-4640-3p	CLIP-seq
MIRT1942413	hsa-miR-4646-5p	CLIP-seq
MIRT820295	hsa-miR-4651	CLIP-seq
MIRT820299	hsa-miR-4688	CLIP-seq
MIRT820301	hsa-miR-4721	CLIP-seq
MIRT820306	hsa-miR-4763-3p	CLIP-seq
MIRT820310	hsa-miR-486-3p	CLIP-seq
MIRT1942414	hsa-miR-495	CLIP-seq
MIRT1942415	hsa-miR-513b	CLIP-seq
MIRT1942416	hsa-miR-520d-5p	CLIP-seq
MIRT1942417	hsa-miR-524-5p	CLIP-seq
MIRT820312	hsa-miR-608	CLIP-seq
MIRT1942418	hsa-miR-650	CLIP-seq
MIRT2181113	hsa-miR-128	CLIP-seq
MIRT2181114	hsa-miR-27a	CLIP-seq
MIRT2181115	hsa-miR-27b	CLIP-seq
MIRT1942405	hsa-miR-3133	CLIP-seq
MIRT2181116	hsa-miR-3173-3p	CLIP-seq
MIRT1942407	hsa-miR-361-3p	CLIP-seq
MIRT1942408	hsa-miR-3679-3p	CLIP-seq
MIRT2181117	hsa-miR-4447	CLIP-seq
MIRT2181118	hsa-miR-4472	CLIP-seq
MIRT820295	hsa-miR-4651	CLIP-seq
MIRT2181119	hsa-miR-4716-3p	CLIP-seq
MIRT2181120	hsa-miR-4723-5p	CLIP-seq
MIRT2181121	hsa-miR-499a-5p	CLIP-seq
MIRT820312	hsa-miR-608	CLIP-seq
MIRT2181122	hsa-miR-873	CLIP-seq
MIRT2484446	hsa-miR-1908	CLIP-seq
MIRT2484447	hsa-miR-3064-3p	CLIP-seq
MIRT2484448	hsa-miR-3135b	CLIP-seq
MIRT2484449	hsa-miR-3180	CLIP-seq
MIRT2484450	hsa-miR-3180-3p	CLIP-seq
MIRT2484451	hsa-miR-3183	CLIP-seq
MIRT2484452	hsa-miR-3196	CLIP-seq
MIRT1942406	hsa-miR-3612	CLIP-seq
MIRT2484453	hsa-miR-4268	CLIP-seq
MIRT1942410	hsa-miR-4443	CLIP-seq
MIRT2484454	hsa-miR-4488	CLIP-seq
MIRT2484455	hsa-miR-4697-5p	CLIP-seq
MIRT2484456	hsa-miR-4706	CLIP-seq
MIRT2484457	hsa-miR-4723-3p	CLIP-seq
MIRT2484458	hsa-miR-4738-5p	CLIP-seq
MIRT2484459	hsa-miR-4749-5p	CLIP-seq
MIRT1942418	hsa-miR-650	CLIP-seq
MIRT2484460	hsa-miR-663	CLIP-seq

Show/Hide all (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
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA

MIM	HGNC	e!Ensembl
300688	25657	ENSG00000085185

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
RNLLLPNKVQGISDSPNGFLPNNLEEPACLENSEKPSGKRKCKTKHMATVSEEAKDVVLY
CLQKDSEDVNHRDNAGYTALHEACSRGWTDILNILLEHGANVNCSAQDGTRPVHDAVVND
NLETIWLLLSYGADPTLATYSGQTAMKLASSDTMKRFLSDHLSDLQGRAEGDPGVSWDFY
SSSVLEEKDGFACDLLHNPPGSSDQEGDDPMEEDDFMFELSDKPLLPCYNLQVSVSRGPC
NWFLFSDVLKRLKLSSRIFQARFPHFEITTMPKAEFYRQVASSQLLTPAERPGGLDDRSP
PGSSETVELVRYEPDLLRLLGSEVEFQSCNS

Sequence length

1711

Interactions

View interactions

	KEGG
	Polycomb repressive complex

111

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs1464137864	RCV001281108
Multiple myeloma	Likely pathogenic	rs1603113792	RCV000984114
Neurodevelopmental delay	Pathogenic	rs2522832906	RCV003223496
Oligoasthenoteratozoospermia	Pathogenic	rs750640150, rs199973665	RCV004595690 RCV004579615
Shukla-Vernon syndrome	Likely pathogenic	rs2522663621, rs1603105985	RCV002302426 RCV000790634

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs5932715	RCV005920312
Adrenocortical carcinoma, hereditary	Benign	rs5932715	RCV005920313
BCORL1-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs138477961, rs150252607, rs7061871, rs1447366476, rs1170303027, rs201843717, rs921699067, rs1929205587, rs2522855456, rs143864671, rs1930826668, rs746063839, rs145672322, rs144120338, rs2522653199 View all (18 more)	RCV003946016 RCV004743552 RCV003975911 RCV003973349 RCV003926363 RCV003947823 RCV003399458 RCV003397577 RCV003394356 RCV003412135 RCV003391516 RCV003946625 RCV004741757 RCV003921771 RCV003901488 RCV003899300 RCV003909567 RCV003913928 RCV003944070 RCV003943811 RCV003949627 RCV003949754 RCV003934686 RCV003961912 RCV003922125 RCV003924713 RCV003942189 RCV003916214 RCV003936134 RCV003962853 RCV003977953 RCV003913091 RCV003970527
Cervical cancer	Benign; Likely benign	rs35736519	RCV005908401
Global developmental delay	Uncertain significance	rs372174837	RCV001527609
Malignant lymphoma, large B-cell, diffuse	Benign	rs5932715	RCV005920315
Neurodevelopmental disorder	Uncertain significance	rs2124451207	RCV002277640
Sarcoma	Benign	rs5932715	RCV005920316
See cases	Likely benign; Benign; Conflicting classifications of pathogenicity	rs774848773, rs376946512, rs1327701948	RCV002252880 RCV002253019 RCV002287650
Thymoma	Benign	rs5932715	RCV005920318
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign; Benign	rs1429394573, rs1293025980, rs376491937, rs190993389, rs35736519, rs199913486	RCV005930241 RCV005932284 RCV005936767 RCV005939076 RCV005908402 RCV005913641
Uterine carcinosarcoma	Benign	rs5932715	RCV005920317
Uveal melanoma	Benign	rs5932715	RCV005920314

Show/Hide Text Mining Associations (48)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute erythroleukemia	Associate	35967966
Adenosarcoma	Associate	36639698
Adenosarcoma of the uterus	Associate	36639698
Agenesis of Corpus Callosum	Associate	34400773
Anemia Aplastic	Associate	26132940, 36499545
Astrocytoma	Associate	30051528
Breast Neoplasms	Associate	17697391
Carcinoma	Associate	30051528, 34302054
Carcinoma Hepatocellular	Associate	26879601
Carcinoma Non Small Cell Lung	Associate	33629637
Carcinoma Papillary Follicular	Associate	32606114
Central Nervous System Neoplasms	Associate	38216991
Central Nervous System Vascular Malformations	Associate	34400773
Dental Caries	Associate	23470693
Developmental Disabilities	Associate	33810051, 34400773
Ear Diseases	Associate	33810051
Elbow Injuries	Associate	27537276
Ependymoma	Associate	38216991
Gastrointestinal Stromal Tumors	Associate	36639698
Heart Septal Defects	Associate	34400773
Intellectual Disability	Associate	33810051
Kidney Neoplasms	Associate	32628469
Leiomyosarcoma	Associate	34302054
Leukemia	Associate	25326804, 28982308, 35015684
Leukemia Myeloid Acute	Associate	21989985, 24047651, 27983727, 28982308, 30480765, 33433047, 36370049, 37088137
Leukemia Myeloid Chronic Phase	Associate	32782381
Lumbar Stenosis Familial	Associate	34020649
Lymphoma	Associate	25326804
MASS syndrome	Associate	27537276
Melanoma	Associate	29605720
Myelodysplastic Syndromes	Associate	24047651
Neoplasms	Inhibit	21989985, 24896186, 35015684
Neoplasms	Stimulate	26879601
Neoplasms	Associate	27537276, 28427458, 32606114, 33629637, 34232599, 34302054, 36639698, 36799265
Neoplasms Germ Cell and Embryonal	Associate	24896186
Neural Tube Defects	Associate	24047651
Perisylvian syndrome	Associate	34400773
Personality Disorders	Associate	34302054
Polycythemia Vera	Associate	28427458
Polymicrogyria	Associate	34400773
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	27470916
Prostatic Neoplasms	Associate	17697391
Sarcoma	Associate	34232599, 34302054
Sarcoma Endometrial Stromal	Associate	34302054
Supratentorial Neoplasms	Associate	30514397
Syndrome	Associate	33810051
Thyroid Cancer Papillary	Associate	32606114
Wilms Tumor	Associate	28825729

BCORL1 (BCL6 corepressor like 1)