Hs01732278_cn

• Gene Symbol: CORO7-PAM16
• Assay Reference Genome Location: Chr.16:4343249 on build GRCh38
• Cytoband: 16p13.3

Target Gene Details

• Entrez Gene ID: 100529144
• Gene Name: CORO7-PAM16 readthrough
• Gene Aliases: -
• Location: Chr.16:4340251-4416961 on Build GRCh38
• Assay Gene Location: Overlaps Intron 28 - Exon 28

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CORO7-PAM16	NM_001201479.1			NP_001188408.1
	AL833954.1

Target Gene Details

• Entrez Gene ID: 51025
• Gene Name: presequence translocase-associated motor 16 homolog (S. cerevisiae)
• Gene Aliases: CGI-136, MAGMAS, SMDMDM, TIM16, TIMM16
• Location: Chr.16:4340251-4351372 on Build GRCh38
• Assay Gene Location: Overlaps Intron 2 - Exon 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PAM16	NM_016069.9			NP_057153.8
	AF151894.1			AAD34131.1
	AF349455.1			AAL57767.1
	AK026514.1			BAB15494.1
	BC005024.1			AAH05024.1
	BG715429.1
	CR457362.1			CAG33643.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv471075	Chr.16:4317729 - 4395326 on Build GRCh38	Loss	VASN GLIS2 PAM16 CORO7 CORO7-PAM16 GLIS2-AS1
nsv1046986	Chr.16:4049000 - 5555721 on Build GRCh38	Gain	ZNF500 SEC14L5 ADCY9 HMOX2 NAGPA UBALD1 RBFOX1 NUDT16L1 SEPT12 MGRN1 VASN NMRAL1 LOC105371063 TFAP4 NAGPA-AS1 ROGDI PAM16 CORO7-PAM16 GLIS2-AS1 C16orf89 CDIP1 MIR6769A GLIS2 GLYR1 ALG1 SMIM22 LINC01569 CORO7 DNAJA3 ANKS3 SRL C16orf96 PPL UBN1 EEF2KMT C16orf71
nsv571274	Chr.16:4309420 - 4441189 on Build GRCh38	Gain	VASN GLIS2 PAM16 CORO7 CORO7-PAM16 DNAJA3 GLIS2-AS1
nsv527866	Chr.16:4206462 - 4412618 on Build GRCh38	Loss	VASN SRL LOC105371063 GLIS2 TFAP4 PAM16 LINC01569 CORO7 CORO7-PAM16 GLIS2-AS1
esv3584924	Chr.16:4330628 - 4469258 on Build GRCh38	Gain	VASN NMRAL1 GLIS2 PAM16 CORO7 CORO7-PAM16 DNAJA3
esv23732	Chr.16:4340813 - 4476244 on Build GRCh38	Gain	VASN NMRAL1 HMOX2 PAM16 CORO7 CORO7-PAM16 DNAJA3

More Information

Additional Information:

For this assay, SNP(s) [rs72766573] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

non-motor actin binding protein, transporter

Gene Ontology Categories:

Process(es)

ossification
protein import into mitochondrial matrix
negative regulation of ATPase activity

Function(s)

protein binding