BCORL1 (BCL6 corepressor like 1)

2006-10-01  

Identity

HGNC
BCORL1
LOCATION
Xq26.1
LOCUSID
63035
ALIAS
BCoR-L1,CXorf10,SHUVER
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 63035
MIM: 300688
HGNC: 25657
Ensembl: ENSG00000085185

Variants:

dbSNP: 63035
ClinVar: 63035
TCGA: ENSG00000085185
COSMIC: BCORL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000085185ENST00000218147Q5H9F3
ENSG00000085185ENST00000441294H7C4B2
ENSG00000085185ENST00000456822A0A075B6Q3
ENSG00000085185ENST00000488135V9GYD4
ENSG00000085185ENST00000540052Q5H9F3
ENSG00000085185ENST00000607874A0A087X1F0

Expression (GTEx)

0
5
10
15
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
344007732022Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.0
350156842022BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes.12
354991682022Endometrial Stromal Sarcomas With BCOR Internal Tandem Duplication and Variant BCOR/BCORL1 Rearrangements Resemble High-grade Endometrial Stromal Sarcomas With Recurrent CDK4 Pathway Alterations and MDM2 Amplifications.3
344007732022Major brain malformations: corpus callosum dysgenesis, agenesis of septum pellucidum and polymicrogyria in patients with BCORL1-related disorders.0
350156842022BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes.12
354991682022Endometrial Stromal Sarcomas With BCOR Internal Tandem Duplication and Variant BCOR/BCORL1 Rearrangements Resemble High-grade Endometrial Stromal Sarcomas With Recurrent CDK4 Pathway Alterations and MDM2 Amplifications.3
323767902021Human X chromosome exome sequencing identifies BCORL1 as contributor to spermatogenesis.8
338100512021Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.3
343020542021Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas.8
323767902021Human X chromosome exome sequencing identifies BCORL1 as contributor to spermatogenesis.8
338100512021Shukla-Vernon Syndrome: A Second Family with a Novel Variant in the BCORL1 Gene.3
343020542021Clinicopathological and genomic characterization of BCORL1-driven high-grade endometrial stromal sarcomas.8
325942172020Gene mutation profile in patients with acquired pure red cell aplasia.4
327767372020Age-Related Co-Expression of BCOR and BCORL1 mRNA in Acute Myeloid Leukemia.0
332837332020[Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes].3

Citation

Dessen P

BCORL1 (BCL6 corepressor like 1)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43166/teaching-explorer/case-report-explorer/haematological-explorer/