Hs01574791_cn

• Gene Symbol: LOC550113
• Assay Reference Genome Location: Chr.4:68063200 on build GRCh38
• Cytoband: 4q13.2

Target Gene Details

• Entrez Gene ID: 550113
• Gene Name: uncharacterized LOC550113
• Gene Aliases: -
• Location: Chr.4:68053508-68073233 on Build GRCh38
• Assay Gene Location: Overlaps Exon 2 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC550113	NR_046116.1
	AI001926.1

Target Gene Details

• Entrez Gene ID: 401135
• Gene Name: synaptotagmin 14 pseudogene 1
• Gene Aliases: CHR415SYT, SYT14L, SYTDEP
• Location: Chr.4:68060610-68063297 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SYT14P1	NR_027094.1	1	98
	AY954513.2	1	98	AAX40990.1

Target Gene Details

• Entrez Gene ID: 389208
• Gene Name: transmembrane protease, serine 11F
• Gene Aliases: -
• Location: Chr.4:68053198-68129869 on Build GRCh38
• Assay Gene Location: Within Intron 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMPRSS11F	NM_207407.2			NP_997290.2
	XM_011531935.1			XP_011530237.1
	AK122625.1			BAC85495.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759257	Chr.4:67911288 - 68163195 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
nsv515010	Chr.4:68053175 - 68129695 on Build GRCh38	Loss	SYT14P1 LOC550113 TMPRSS11F
nsv818242	Chr.4:67945419 - 68132435 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
nsv10514	Chr.4:67923797 - 68150168 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
esv22957	Chr.4:67923012 - 68150383 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
nsv469718	Chr.4:67952598 - 68109856 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
esv3600857	Chr.4:67925571 - 68142494 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
nsv1007376	Chr.4:67827765 - 68142484 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A TMPRSS11D
nsv433367	Chr.4:67931662 - 68147283 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A
esv35010	Chr.4:67925116 - 68152450 on Build GRCh38	Gain	SYT14P1 TMPRSS11GP LOC550113 TMPRSS11F TMPRSS11A

More Information

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

Panther Classification:

Molecular Function -

serine protease

Gene Ontology Categories:

Process(es)

vesicle fusion
regulation of calcium ion-dependent exocytosis
positive regulation of CREB transcription factor activity
calcium ion-regulated exocytosis of neurotransmitter
positive regulation of ERK1 and ERK2 cascade
positive regulation of dendrite extension
proteolysis

Function(s)

calcium ion binding
calcium-dependent phospholipid binding
syntaxin binding
clathrin binding
serine-type endopeptidase activity