Hs01894472_cn

• Gene Symbol: MIPEP
• Assay Reference Genome Location: Chr.13:23730399 on build GRCh38
• Cytoband: 13q12.12

Target Gene Details

• Entrez Gene ID: 4285
• Gene Name: mitochondrial intermediate peptidase
• Gene Aliases: HMIP, MIP
• Location: Chr.13:23730189-23889448 on Build GRCh38
• Assay Gene Location: Overlaps Intron 20 - Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIPEP	NM_005932.3			NP_005923.2
	XM_011535097.2			XP_011533399.1
	AK225290.1
	AK291923.1
	BC009934.2			AAH09934.1
	U80034.1			AAC51231.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3631531	Chr.13:23718767 - 23811145 on Build GRCh38	Loss	MIPEP
nsv525965	Chr.13:22937442 - 24358507 on Build GRCh38	Gain	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
esv2659554	Chr.13:23718763 - 23811144 on Build GRCh38	Deletion	MIPEP
nsv561292	Chr.13:23025847 - 24348376 on Build GRCh38	Loss	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
dgv3084n54	Chr.13:22925582 - 24378278 on Build GRCh38	Gain	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
esv3892311	Chr.13:22674660 - 24411768 on Build GRCh38	Gain	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG LOC105370109 C1QTNF9B-AS1 SACS LINC00327 BASP1P1 SACS-AS1 TNFRSF19 MIPEP LINC00621 MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
nsv1041095	Chr.13:23645821 - 23913651 on Build GRCh38	Loss	ANKRD20A19P TNFRSF19 MIPEP C1QTNF9B C1QTNF9B-AS1
dgv1615n100	Chr.13:22930769 - 24362849 on Build GRCh38	Gain	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
esv2751136	Chr.13:22982261 - 24393377 on Build GRCh38	Loss	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
esv3631529	Chr.13:23631187 - 23807490 on Build GRCh38	Gain	TNFRSF19 MIPEP
esv3580576	Chr.13:22945778 - 24362710 on Build GRCh38	Loss	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG C1QTNF9B-AS1 SACS LINC00327 SACS-AS1 TNFRSF19 MIPEP MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1
esv2422502	Chr.13:22755560 - 24382791 on Build GRCh38	Duplication	SPATA13 ANKRD20A19P C1QTNF9 LINC00566 SGCG LOC105370109 C1QTNF9B-AS1 SACS LINC00327 BASP1P1 SACS-AS1 TNFRSF19 MIPEP LINC00621 MIR2276 C1QTNF9B NUS1P3 SPATA13-AS1

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

peptide metabolic process
protein processing involved in protein targeting to mitochondrion

Function(s)

metalloendopeptidase activity
metal ion binding