BORCS8-MEF2B

BORCS8-MEF2B readthrough

Basic information

Region (hg38): 19:19145569-19192158

Previous symbols: [ "MEF2BNB-MEF2B" ]

Links

ENSG00000064489 ∙ NCBI:4207 ∙ ∙ HGNC:39979 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BORCS8-MEF2B gene.

• Inborn genetic diseases (28 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORCS8-MEF2B gene is commonly pathogenic or not. These statistics are base on transcript: . 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	1
missense			13			13
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	13	0	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BORCS8-MEF2B	protein_coding	protein_coding	ENST00000444486	7	46592

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00399	0.963	124567	0	205	124772	0.000822

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	161	210	0.768	0.0000137	2248
Missense in Polyphen		67	92.104	0.72744		879
Synonymous	0.869	83	93.7	0.886	0.00000638	812
Loss of Function	1.86	6	13.3	0.450	9.13e-7	136

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00267	0.00264
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000764	0.000761
Finnish	0.000653	0.000647
European (Non-Finnish)	0.00110	0.00109
Middle Eastern	0.000764	0.000761
South Asian	0.0000996	0.0000980
Other	0.000822	0.000816

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle- specific genes. Activates transcription via this element. May be involved in muscle-specific and/or growth factor-related transcription.
• Pathway: Apelin signaling pathway - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;Adipogenesis;Developmental Biology;role of erk5 in neuronal survival pathway;regulation of pgc-1a;p38 mapk signaling pathway;angiotensin ii mediated activation of jnk pathway via pyk2 dependent signaling;signal dependent regulation of myogenesis by corepressor mitr;mapkinase signaling pathway;CDO in myogenesis;Myogenesis;control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk) (Consensus)

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.374

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nuclear chromatin
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;histone deacetylase binding;protein dimerization activity