Hs01505681_cn

• Gene Symbol: AFG3L1P
• Assay Reference Genome Location: Chr.16:89980263 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 3 - Exon 4

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
	AF329694.1
	AK056488.1
	AK091293.1
	AK097044.1			BAC04933.1
	AK126911.1
	AK128804.1
	DA707802.1

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

More Information

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

Panther Classification:

Molecular Function -

metalloprotease