IMMP1L

inner mitochondrial membrane peptidase subunit 1

Basic information

Region (hg38): 11:31432400-31509645

Previous symbols: [ "IMMP1" ]

Links

ENSG00000148950 ∙ NCBI:196294 ∙ OMIM:612323 ∙ HGNC:26317 ∙ Uniprot:Q96LU5 ∙ 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 IMMP1L gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IMMP1L gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	0	0

Variants in IMMP1L

This is a list of pathogenic ClinVar variants found in the IMMP1L region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-31432522-C-A		not specified	Uncertain significance (Aug 08, 2022)
11-31433506-T-C		not specified	Uncertain significance (Oct 02, 2023)
11-31433546-C-G		not specified	Uncertain significance (Mar 29, 2022)
11-31456268-G-C		not specified	Uncertain significance (Dec 19, 2023)
11-31456358-T-C		not specified	Uncertain significance (Jun 17, 2022)
11-31456360-G-A		not specified	Uncertain significance (Dec 21, 2022)
11-31460638-T-C		not specified	Uncertain significance (Jan 17, 2024)
11-31460699-T-C		not specified	Uncertain significance (Jan 24, 2024)
11-31460705-G-T		not specified	Uncertain significance (Nov 17, 2023)
11-31463189-C-T		not specified	Uncertain significance (Aug 14, 2023)
11-31463201-C-G		not specified	Uncertain significance (Apr 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IMMP1L	protein_coding	protein_coding	ENST00000278200	5	77245

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000246	0.529	125676	0	49	125725	0.000195

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.275	96	88.7	1.08	0.00000438	1084
Missense in Polyphen		22	23.597	0.93234		301
Synonymous	1.60	17	27.7	0.613	0.00000129	317
Loss of Function	0.627	8	10.2	0.788	6.58e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000213	0.000212
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000143	0.000139
European (Non-Finnish)	0.000330	0.000325
Middle Eastern	0.00	0.00
South Asian	0.000133	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the removal of transit peptides required for the targeting of proteins from the mitochondrial matrix, across the inner membrane, into the inter-membrane space. Known to process the nuclear encoded protein DIABLO. {ECO:0000269|PubMed:15814844}.
• Pathway: Protein export - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• loftool: 0.626
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.260
• hipred: Y
• hipred_score: 0.517
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Immp1l

Gene ontology

• Biological process: protein processing involved in protein targeting to mitochondrion;biological_process
• Cellular component: mitochondrion;mitochondrial inner membrane peptidase complex
• Molecular function: molecular_function;serine-type peptidase activity