BLTP3B

bridge-like lipid transfer protein family member 3B, the group of bridge-like lipid transfer protein family

Basic information

Region (hg38): 12:100028455-100142874

Previous symbols: [ "UHRF1BP1L" ]

Links

ENSG00000111647 ∙ NCBI:23074 ∙ OMIM:619811 ∙ HGNC:29102 ∙ Uniprot:A0JNW5 ∙ 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 BLTP3B gene.

• not_specified (147 variants)
• not_provided (16 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLTP3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015054.2. 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					7	7
missense			143	6	5	154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	143	6	12

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLTP3B	protein_coding	protein_coding	ENST00000279907	21	114394

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00425	0.996	125678	0	66	125744	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	645	729	0.885	0.0000349	9700
Missense in Polyphen		151	225.95	0.66828		3114
Synonymous	-0.887	270	252	1.07	0.0000122	2705
Loss of Function	5.29	17	61.9	0.275	0.00000299	839

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000241	0.000239
Ashkenazi Jewish	0.000303	0.000298
East Asian	0.000223	0.000217
Finnish	0.000832	0.000832
European (Non-Finnish)	0.000259	0.000255
Middle Eastern	0.000223	0.000217
South Asian	0.000166	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.640
• rvis_EVS: 1.5
• rvis_percentile_EVS: 95.38

Haploinsufficiency Scores

• pHI: 0.732
• hipred: N
• hipred_score: 0.478
• ghis: 0.468

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.187

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uhrf1bp1l

Gene ontology

• Cellular component: early endosome;cytosol
• Molecular function: protein binding;protein homodimerization activity;GARP complex binding