PRELID3B

PRELI domain containing 3B, the group of PRELI domain containing

Basic information

Region (hg38): 20:59033145-59042809

Previous symbols: [ "C20orf45", "SLMO2" ]

Links

ENSG00000101166 ∙ NCBI:51012 ∙ ∙ HGNC:15892 ∙ Uniprot:Q9Y3B1 ∙ 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 PRELID3B gene.

• not_specified (21 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRELID3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016045.3. 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						0
missense			21			21
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRELID3B	protein_coding	protein_coding	ENST00000355937	6	9765

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.136	0.846	124768	0	26	124794	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.792	81	104	0.781	0.00000493	1259
Missense in Polyphen		8	17.643	0.45343		226
Synonymous	0.530	31	35.0	0.886	0.00000191	370
Loss of Function	2.03	3	9.89	0.303	4.99e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000283	0.000273
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000484	0.000464
European (Non-Finnish)	0.0000356	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000654
Other	0.000353	0.000330

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.486
• hipred: N
• hipred_score: 0.332
• ghis: 0.625

Essentials

• essential_gene_gene_trap: E

Mouse Genome Informatics

• Gene name: Prelid3b

Gene ontology

• Biological process: phospholipid transport
• Cellular component: mitochondrial intermembrane space
• Molecular function: phosphatidic acid transporter activity