LURAP1L

leucine rich adaptor protein 1 like

Basic information

Region (hg38): 9:12775020-12823060

Previous symbols: [ "C9orf150" ]

Links

ENSG00000153714 ∙ NCBI:286343 ∙ OMIM:616130 ∙ HGNC:31452 ∙ Uniprot:Q8IV03 ∙ 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 LURAP1L gene.

• not_specified (54 variants)
• Esophageal_atresia/tracheoesophageal_fistula (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the LURAP1L gene is commonly pathogenic or not. These statistics are base on transcript: NM_000203403.2. 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						0
missense		1	53	1		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	53	1	0

Highest pathogenic variant AF is 0.0000111531

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
LURAP1L	protein_coding	protein_coding	ENST00000319264	2	47111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0250	0.795	125730	0	11	125741	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.13	163	127	1.28	0.00000671	1486
Missense in Polyphen		55	47.315	1.1624		594
Synonymous	-1.53	68	53.7	1.27	0.00000303	460
Loss of Function	0.998	3	5.53	0.542	2.42e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000540	0.0000462
European (Non-Finnish)	0.0000480	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.000133	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.31
• rvis_percentile_EVS: 72.23

Haploinsufficiency Scores

• pHI: 0.415
• hipred: N
• hipred_score: 0.231
• ghis: 0.475

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Lurap1l

Gene ontology

• Biological process: positive regulation of I-kappaB kinase/NF-kappaB signaling