Hs04401049_cn

• Gene Symbol: IMMP1L
• Assay Reference Genome Location: Chr.11:31457612 on build GRCh38
• Cytoband: 11p13

Target Gene Details

• Entrez Gene ID: 196294
• Gene Name: inner mitochondrial membrane peptidase subunit 1
• Gene Aliases: IMMP1, IMP1, IMP1-LIKE
• Location: Chr.11:31432399-31509644 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMMP1L	NM_001304274.1			NP_001291203.1
	NM_144981.2			NP_659418.1
	XM_005252812.3			XP_005252869.1
	XM_011519942.1			XP_011518244.1
	XM_011519943.2			XP_011518245.1
	XM_011519944.2			XP_011518246.1
	XM_011519945.2			XP_011518247.1
	XM_011519946.2			XP_011518248.1
	XM_011519947.2			XP_011518249.1
	XM_017017305.1			XP_016872794.1
	XM_017017306.1			XP_016872795.1
	XM_017017307.1			XP_016872796.1
	AK057788.1			BAB71573.1
	AK310496.1
	AK311611.1
	BC023595.2			AAH23595.1
	DB288287.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv1740n54	Chr.11:31433428 - 31674788 on Build GRCh38	Loss	IMMP1L ELP4
nsv1046329	Chr.11:31185798 - 31502655 on Build GRCh38	Loss	IMMP1L DCDC1 DNAJC24
esv2751022	Chr.11:31041408 - 31526385 on Build GRCh38	Loss	IMMP1L DCDC1 DNAJC24 ELP4
nsv529004	Chr.11:30992197 - 31700936 on Build GRCh38	Loss	IMMP1L DCDC1 DCDC5 DNAJC24 ELP4
nsv553949	Chr.11:31296288 - 31518040 on Build GRCh38	Loss	IMMP1L DCDC1 DNAJC24 ELP4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

signal peptide processing
protein processing involved in protein targeting to mitochondrion
biological_process
mitochondrial respiratory chain complex assembly

Function(s)

molecular_function
serine-type endopeptidase activity