BCLAF1

BCL2 associated transcription factor 1, the group of WTAP complex

Basic information

Region (hg38): 6:136256627-136289851

Links

ENSG00000029363 ∙ NCBI:9774 ∙ OMIM:612588 ∙ HGNC:16863 ∙ Uniprot:Q9NYF8 ∙ AlphaFold ∙ 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 BCLAF1 gene.

• not_specified (111 variants)
• BCLAF1-related_disorder (7 variants)
• not_provided (5 variants)
• Pulmonary_artery_atresia (2 variants)
• Epidermolysis_bullosa_simplex_with_nail_dystrophy (1 variants)
• Fraser_syndrome_3 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCLAF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014739.3. 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				12		12
missense	2		98	3	5	108
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	2	0	101	15	5

Highest pathogenic variant AF is 0.0000034431182

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCLAF1	protein_coding	protein_coding	ENST00000531224	11	32989

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.06e-14	0.810	123059	0	2687	125746	0.0107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-4.36	667	417	1.60	0.0000219	5477
Missense in Polyphen		36	22.244	1.6184		256
Synonymous	-7.26	252	142	1.77	0.00000725	1582
Loss of Function	1.92	28	41.3	0.678	0.00000279	531

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00623	0.00623
Ashkenazi Jewish	0.0125	0.0125
East Asian	0.00606	0.00605
Finnish	0.0160	0.0159
European (Non-Finnish)	0.00784	0.00777
Middle Eastern	0.00606	0.00605
South Asian	0.0329	0.0328
Other	0.0116	0.0116

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269|PubMed:18794151}.
• Pathway: Interactome of polycomb repressive complex 2 (PRC2) (Consensus)

Recessive Scores

• pRec: 0.182

Intolerance Scores

• loftool: 0.873
• rvis_EVS: 1.99
• rvis_percentile_EVS: 97.64

Haploinsufficiency Scores

• pHI: 0.858
• ghis: 0.558

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bclaf1
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; limbs/digits/tail phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: apoptotic process;positive regulation of apoptotic process;regulation of DNA-templated transcription in response to stress;negative regulation of transcription, DNA-templated;cellular response to leukemia inhibitory factor;positive regulation of DNA-templated transcription, initiation;positive regulation of response to DNA damage stimulus;positive regulation of intrinsic apoptotic signaling pathway
• Cellular component: nucleus;nucleoplasm;cytoplasm;nuclear speck
• Molecular function: DNA binding;RNA binding;protein binding