BCORL1

BCL6 corepressor like 1, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): X:129981107-130058071

Previous symbols: [ "CXorf10" ]

Links

ENSG00000085185 ∙ NCBI:63035 ∙ OMIM:300688 ∙ HGNC:25657 ∙ Uniprot:Q5H9F3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Shukla-Vernon syndrome (Limited), mode of inheritance: XL
• syndromic intellectual disability (Supportive), mode of inheritance: AD
• Shukla-Vernon syndrome (Limited), mode of inheritance: XL
• Shukla-Vernon syndrome (Strong), mode of inheritance: XL
• Shukla-Vernon syndrome (Limited), mode of inheritance: XL
• Shukla-Vernon syndrome (Limited), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Shukla-Vernon syndrome	XL	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Musculoskeletal; Neurologic	24123876; 30941876

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BCORL1 gene.

• not_provided (246 variants)
• not_specified (105 variants)
• Shukla-Vernon_syndrome (58 variants)
• BCORL1-related_disorder (38 variants)
• See_cases (3 variants)
• Oligoasthenoteratozoospermia (2 variants)
• Multiple_myeloma (1 variants)
• Neurodevelopmental_disorder (1 variants)
• Global_developmental_delay (1 variants)
• Neurodevelopmental_delay (1 variants)
• Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCORL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001379451.1. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	41	11	53
missense	2	2	298	27	1	330
nonsense	1	1	5			7
start loss						0
frameshift		1	7			8
splice donor/acceptor (+/-2bp)			1			1
Total	3	4	312	68	12

Highest pathogenic variant AF is 0.00008525424

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCORL1	protein_coding	protein_coding	ENST00000540052	12	76976

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.00000917	125697	5	6	125708	0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	581	739	0.786	0.0000624	10997
Missense in Polyphen		124	222.97	0.55613		3368
Synonymous	1.02	302	325	0.928	0.0000297	3783
Loss of Function	5.67	2	41.4	0.0483	0.00000350	623

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000223	0.000208
Ashkenazi Jewish	0.00	0.00
East Asian	0.000579	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000130	0.00000879
Middle Eastern	0.000579	0.000217
South Asian	0.00	0.00
Other	0.000255	0.000163

dbNSFP

Source: dbNSFP

• Function: 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 which can associate with this corepressor. {ECO:0000269|PubMed:17379597}.
• Pathway: Mesodermal Commitment Pathway;Pathways Affected in Adenoid Cystic Carcinoma (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.338
• rvis_EVS: -2.12
• rvis_percentile_EVS: 1.52

Haploinsufficiency Scores

• pHI: 0.193
• hipred: Y
• hipred_score: 0.655
• ghis: 0.628

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.670

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Bcorl1

Gene ontology

• Biological process: chromatin organization
• Cellular component: nucleoplasm;plasma membrane