ILVBL

ilvB acetolactate synthase like

Basic information

Region (hg38): 19:15114984-15125786

Links

ENSG00000105135 ∙ NCBI:10994 ∙ OMIM:605770 ∙ HGNC:6041 ∙ Uniprot:A1L0T0 ∙ 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 ILVBL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ILVBL 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				3	2	5
missense			63	7	2	72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	10	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ILVBL	protein_coding	protein_coding	ENST00000263383	15	10802

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.22e-8	0.939	125664	0	84	125748	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.823	361	408	0.885	0.0000271	4002
Missense in Polyphen		136	159.82	0.85094		1493
Synonymous	-0.0590	174	173	1.01	0.0000115	1392
Loss of Function	1.92	17	27.9	0.608	0.00000128	316

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000800	0.000799
Ashkenazi Jewish	0.00179	0.00179
East Asian	0.000544	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000179	0.000176
Middle Eastern	0.000544	0.000544
South Asian	0.000425	0.000425
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.170

Intolerance Scores

• loftool: 0.716
• rvis_EVS: 1.21
• rvis_percentile_EVS: 93.02

Haploinsufficiency Scores

• pHI: 0.226
• hipred: N
• hipred_score: 0.379
• ghis: 0.497

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.893

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ilvbl

Gene ontology

• Biological process: biological_process
• Cellular component: membrane;integral component of membrane
• Molecular function: magnesium ion binding;molecular_function;protein binding;transferase activity;thiamine pyrophosphate binding