Hs02951862_cn

• Gene Symbol: AFG3L1P
• Assay Reference Genome Location: Chr.16:89984586 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 Exon 6 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AFG3L1P	NR_003226.1
	NR_003227.1
	NR_003228.1
	AF329691.1
	AF329693.1	5	506
	AF329694.1	4	437
	AK056488.1
	AK091293.1
	AK097044.1			BAC04933.1
	AK126911.1
	AK128804.1

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

More Information

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

Panther Classification:

Molecular Function -

metalloprotease