Hs00661412_cn

• Gene Symbol: AFG3L1P
• Assay Reference Genome Location: Chr.16:89992734 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 172
• Gene Name: AFG3 like matrix AAA peptidase subunit 1, pseudogene
• Gene Aliases: AFG3, AFG3L1
• Location: Chr.16:89972580-90000787 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AFG3L1P	NR_003226.1
	NR_003227.1
	NR_003228.1
	AF329691.1
	AF329692.1
	AJ001495.1			CAA04792.1
	AK056488.1
	AK091293.1
	AK097044.1			BAC04933.1
	AK126911.1
	AK128352.1
	AK128804.1
	AL832984.1			CAH56313.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv573842	Chr.16:89964848 - 90038925 on Build GRCh38	Loss	DEF8 GAS8 DBNDD1 GAS8-AS1 CENPBD1 AFG3L1P
esv3639603	Chr.16:89944533 - 90039438 on Build GRCh38	Gain	DEF8 GAS8 DBNDD1 GAS8-AS1 CENPBD1 AFG3L1P
nsv471120	Chr.16:89977620 - 90063728 on Build GRCh38	Gain	PRDM7 GAS8 DBNDD1 GAS8-AS1 URAHP AFG3L1P
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	TUBB3 GAS8 VPS9D1 DBNDD1 GAS8-AS1 LOC107984817 SPATA2L SPATA33 CDK10 CHMP1A ZNF276 VPS9D1-AS1 DEF8 DPEP1 CENPBD1 LOC105371419 SPIRE2 MC1R FANCA AFG3L1P TCF25
nsv573810	Chr.16:89857498 - 90037251 on Build GRCh38	Loss	TUBB3 DEF8 GAS8 DBNDD1 GAS8-AS1 CENPBD1 SPIRE2 MC1R AFG3L1P TCF25
nsv952080	Chr.16:89982593 - 90047992 on Build GRCh38	Deletion	GAS8 DBNDD1 GAS8-AS1 URAHP AFG3L1P
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	TUBB3 GAS8 VPS9D1 DBNDD1 SPATA2L SPATA33 CDK10 FAM157C ZNF276 ANKRD11 LOC101927817 CPNE7 LOC100287036 SPG7 MC1R FANCA TCF25 PRDM7 GAS8-AS1 LOC107984817 CHMP1A LOC105371414 VPS9D1-AS1 SNORD68 DEF8 TUBB8P7 URAHP ZNF778 DPEP1 CENPBD1 RPL13 LOC105371419 SPIRE2 AFG3L1P
nsv573799	Chr.16:89852186 - 90022379 on Build GRCh38	Gain	TUBB3 DEF8 GAS8 DBNDD1 CENPBD1 LOC105371419 SPIRE2 MC1R AFG3L1P TCF25
esv3892941	Chr.16:89941888 - 90002650 on Build GRCh38	Gain	DEF8 CENPBD1 AFG3L1P
nsv471119	Chr.16:89957794 - 90083514 on Build GRCh38	Loss	DEF8 PRDM7 GAS8 DBNDD1 GAS8-AS1 URAHP CENPBD1 AFG3L1P
nsv1066499	Chr.16:89891957 - 90028891 on Build GRCh38	Loss	TUBB3 DEF8 GAS8 DBNDD1 CENPBD1 MC1R AFG3L1P TCF25
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	SNAI3-AS1 GAS8 DBNDD1 SPATA2L SPATA33 CDK10 CTU2 ACSF3 FAM157C ZNF276 ANKRD11 LOC101927817 LOC100287036 GALNS TCF25 PRDM7 LOC107987238 PABPN1L LOC107984817 CHMP1A CDH15 LOC101927793 MIR4722 IL17C SNORD68 URAHP LOC100289580 LOC100129697 MVD LOC400558 TUBB3 VPS9D1 RNF166 LOC105371409 CPNE7 SPG7 CBFA2T3 LOC339059 MC1R FANCA APRT PIEZO1 CDT1 GAS8-AS1 LOC105371414 TRAPPC2L CYBA VPS9D1-AS1 SLC22A31 LINC00304 DEF8 TUBB8P7 ZNF778 DPEP1 CENPBD1 RPL13 LOC105371419 SPIRE2 SNAI3 AFG3L1P

More Information

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

Panther Classification:

Molecular Function -

metalloprotease