PEX11G

peroxisomal biogenesis factor 11 gamma, the group of Peroxins

Basic information

Region (hg38): 19:7476875-7497449

Links

ENSG00000104883 ∙ NCBI:92960 ∙ OMIM:607583 ∙ HGNC:20208 ∙ Uniprot:Q96HA9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• peroxisome biogenesis disorder (No Known Disease Relationship), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PEX11G gene.

• not_specified (57 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PEX11G gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080662.4. 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				1		1
missense			57			57
nonsense						0
start loss						0
frameshift					1	1
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	1	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PEX11G	protein_coding	protein_coding	ENST00000221480	5	20575

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.40e-8	0.132	125659	0	81	125740	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.349	140	129	1.09	0.00000822	1441
Missense in Polyphen		55	44.376	1.2394		549
Synonymous	0.907	49	57.8	0.848	0.00000349	525
Loss of Function	-0.0765	11	10.7	1.03	6.23e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000307	0.000306
Ashkenazi Jewish	0.00	0.00
East Asian	0.00152	0.00152
Finnish	0.0000471	0.0000462
European (Non-Finnish)	0.000230	0.000220
Middle Eastern	0.00152	0.00152
South Asian	0.000726	0.000686
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Promotes membrane protrusion and elongation on the peroxisomal surface. {ECO:0000269|PubMed:20826455}.
• Pathway: Peroxisome - Homo sapiens (human);Beta Oxidation of Very Long Chain Fatty Acids;Adrenoleukodystrophy, X-linked;Carnitine-acylcarnitine translocase deficiency (Consensus)

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.836
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.27

Haploinsufficiency Scores

• pHI: 0.0600
• hipred: N
• hipred_score: 0.282
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.883

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pex11g

Gene ontology

• Biological process: peroxisome fission;regulation of peroxisome size
• Cellular component: peroxisome;integral component of peroxisomal membrane;intrinsic component of peroxisomal membrane;protein-containing complex
• Molecular function: protein binding