Hs03682597_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22164487 on build GRCh38
• Cytoband: 8p21.3

Target Gene Details

• Entrez Gene ID: 6440
• Gene Name: surfactant protein C
• Gene Aliases: BRICD6, PSP-C, SFTP2, SMDP2, SP-C
• Location: Chr.8:22161671-22164479 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SFTPC	NM_001172357.1			NP_001165828.1
	NM_001172410.1			NP_001165881.1
	NM_001317778.1			NP_001304707.1
	NM_001317779.1			NP_001304708.1
	NM_001317780.1			NP_001304709.1
	NM_003018.3			NP_003009.2
	XM_011544613.2			XP_011542915.1
	AK058094.1
	AK298119.1
	BC005913.1			AAH05913.1
	BF433929.1
	BI490051.1
	BM993053.1
	BQ027183.1
	DB537043.1
	J03517.1			AAA36634.1
	J03553.1			AAA36631.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv528590	Chr.8:22034428 - 22168131 on Build GRCh38	Loss	FGF17 HR DMTN SFTPC FAM160B2 NUDT18 LGI3 BMP1 NPM2 REEP4
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	FGF17 HR DMTN SFTPC FAM160B2 NUDT18 LGI3 BMP1 REEP4
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	FGF17 HR DMTN SFTPC FAM160B2 NUDT18 LGI3 BMP1 NPM2 REEP4
nsv470204	Chr.8:22094715 - 22171155 on Build GRCh38	Loss	HR SFTPC FAM160B2 NUDT18 LGI3 BMP1 REEP4
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	FGF17 HR DMTN SFTPC PHYHIP FAM160B2 MIR320A POLR3D NUDT18 LGI3 BMP1 REEP4
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	HR SFTPC PHYHIP FAM160B2 MIR320A LOC100507071 POLR3D NUDT18 LGI3 PIWIL2 BMP1 REEP4
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	PHYHIP FAM160B2 C8orf58 TNFRSF10D LOC286059 MIR320A PPP3CC PDLIM2 SORBS3 CHMP7 BMP1 NPM2 REEP4 PEBP4 DOK2 BIN3 XPO7 LOC389641 LOC102467222 LOC101929237 SLC39A14 HR DMTN SFTPC LOC100507071 GFRA2 RHOBTB2 TNFRSF10C LOC254896 LOC107984124 PIWIL2 TNFRSF10A FGF17 CCAR2 BIN3-IT1 LOC286114 LOC101929172 POLR3D EGR3 NUDT18 LGI3 LOC107986876 TNFRSF10B
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	SFTPC LGI3 BMP1

More Information

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

Panther Classification:

Molecular Function -

structural protein, surfactant

Gene Ontology Categories:

Process(es)

respiratory gaseous exchange
cellular protein metabolic process

Function(s)

protein binding