Hs00632448_cn

• Gene Symbol: TIMM13
• Assay Reference Genome Location: Chr.19:2426265 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 26517
• Gene Name: translocase of inner mitochondrial membrane 13
• Gene Aliases: TIM13, TIM13B, TIMM13A, TIMM13B, ppv1
• Location: Chr.19:2425624-2427916 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TIMM13	NM_012458.3	3	1354	NP_036590.1
	AK024764.1	3	989
	AL520160.3	1	603
	BQ015233.1	1	636

Target Gene Details

• Entrez Gene ID: 360200
• Gene Name: transmembrane protease, serine 9
• Gene Aliases: -
• Location: Chr.19:2385254-2426261 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMPRSS9	XM_011527978.2			XP_011526280.1
	XM_011527980.1			XP_011526282.1
	XM_011527982.2			XP_011526284.1
	AK131261.1			BAD18439.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160562	Chr.19:2328434 - 2460264 on Build GRCh38	Deletion	LOC101928602 TMPRSS9 MIR7108 SPPL2B LSM7 LMNB2 TIMM13
nsv1064930	Chr.19:2380093 - 2592252 on Build GRCh38	Gain	LOC101929097 LOC101928602 TMPRSS9 MIR7108 LMNB2 GNG7 TIMM13 GADD45B
nsv953944	Chr.19:2283702 - 2525802 on Build GRCh38	Deletion	LOC101929097 LOC101928602 LINGO3 TMPRSS9 MIR7108 SPPL2B LSM7 LMNB2 GNG7 TIMM13 GADD45B

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

protein targeting to mitochondrion
sensory perception of sound
chaperone-mediated protein transport
proteolysis

Function(s)

zinc ion binding
serine-type endopeptidase activity