Hs00097934_cn

• Gene Symbol: SFTPC
• Assay Reference Genome Location: Chr.8:22163140 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 Intron 2 - Exon 3

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
	AK315742.1
	BC005913.1			AAH05913.1
	BF433929.1
	BG535994.1
	BG569816.1
	BI490051.1
	BI524154.1
	BM993053.1
	BQ027183.1
	DB537043.1
	DQ884411.1
	J03517.1			AAA36634.1
	J03553.1			AAA36631.1
	KU178329.1
	KU178330.1

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	LGI3 HR FAM160B2 NUDT18 SFTPC BMP1 FGF17 REEP4 DMTN NPM2
nsv465613	Chr.8:22046701 - 22197835 on Build GRCh38	Loss	LGI3 HR FAM160B2 NUDT18 SFTPC BMP1 FGF17 REEP4 DMTN
nsv527293	Chr.8:22106867 - 22163524 on Build GRCh38	Loss	LGI3 HR NUDT18 SFTPC REEP4
nsv831263	Chr.8:22031088 - 22184413 on Build GRCh38	Loss	LGI3 HR FAM160B2 NUDT18 SFTPC BMP1 FGF17 REEP4 DMTN NPM2
dgv881n27	Chr.8:22094715 - 22163524 on Build GRCh38	Loss	LGI3 HR FAM160B2 NUDT18 SFTPC REEP4
dgv12054n54	Chr.8:22045805 - 22251098 on Build GRCh38	Loss	POLR3D LGI3 HR PHYHIP FAM160B2 NUDT18 MIR320A SFTPC BMP1 FGF17 REEP4 DMTN
nsv831264	Chr.8:22093700 - 22328040 on Build GRCh38	Gain+Loss	POLR3D LGI3 HR PHYHIP FAM160B2 PIWIL2 NUDT18 MIR320A SFTPC BMP1 REEP4 LOC100507071
esv2759604	Chr.8:20675533 - 23254096 on Build GRCh38	Loss	POLR3D LOC101929172 NUDT18 MIR320A SFTPC FGF17 C8orf58 LOC254896 TNFRSF10A LOC102467222 PEBP4 LOC389641 BIN3-IT1 PIWIL2 LOC101929237 EGR3 PDLIM2 LOC107984124 DOK2 RHOBTB2 HR PHYHIP TNFRSF10B SLC39A14 LOC286059 TNFRSF10C GFRA2 LOC107986876 DMTN LOC100507071 NPM2 CCAR2 LGI3 TNFRSF10D XPO7 FAM160B2 LOC286114 BIN3 BMP1 REEP4 CHMP7 PPP3CC SORBS3
nsv610771	Chr.8:22149780 - 22200609 on Build GRCh38	Loss	LGI3 SFTPC 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