Hs00497446_cn

• Gene Symbol: FAM83G
• Assay Reference Genome Location: Chr.17:18979571 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 644815
• Gene Name: family with sequence similarity 83 member G
• Gene Aliases: PAWS1
• Location: Chr.17:18968789-19006144 on Build GRCh38
• Assay Gene Location: Overlaps Intron 5 - Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM83G	NM_001039999.2			NP_001035088.2
	XM_017024953.1			XP_016880442.1
	AK123558.1	3	532	BAC85645.1
	BX365956.2
	DN831927.1

Target Gene Details

• Entrez Gene ID: 125206
• Gene Name: solute carrier family 5 member 10
• Gene Aliases: SGLT-5, SGLT5
• Location: Chr.17:18950676-19020691 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SLC5A10	NM_001042450.2			NP_001035915.1
	NM_001270648.1			NP_001257577.1
	NM_001270649.1			NP_001257578.1
	NM_001282417.1			NP_001269346.1
	NM_152351.4			NP_689564.3
	XM_011523652.1			XP_011521954.1
	XM_011523653.2			XP_011521955.1
	XM_017024191.1			XP_016879680.1
	AK057946.1			BAB71619.1
	AK298345.1
	BC034380.1
	BC039868.1			AAH39868.1
	BC062617.1			AAH62617.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv457699	Chr.17:18926974 - 18987449 on Build GRCh38	Gain	PRPSAP2 SLC5A10 FAM83G
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	SNORD3C SLC5A10 GRAPL FAM83G SNORD3B-1 SNORD3B-2 SNORD3D PRPSAP2 LOC388436 SNORD3A EPN2 EPN2-IT1 LOC79999 LOC102724624 GRAP
nsv1057803	Chr.17:18561260 - 19019420 on Build GRCh38	Loss	PRPSAP2 LOC101929141 FBXW10 SLC5A10 CCDC144B ZNF286B TVP23B TRIM16L FAM83G TBC1D28 FOXO3B
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	SNORD3C SLC5A10 GRAPL FAM83G SNORD3B-1 SNORD3B-2 SNORD3D PRPSAP2 LOC388436 SNORD3A EPN2 EPN2-IT1 LOC79999 LOC102724624 GRAP
dgv3116n100	Chr.17:18957985 - 19190235 on Build GRCh38	Gain	SNORD3C SLC5A10 GRAPL SNORD3A FAM83G SNORD3B-1 LOC79999 LOC102724624 SNORD3B-2 SNORD3D GRAP
nsv523721	Chr.17:18659407 - 19014011 on Build GRCh38	Gain	PRPSAP2 LOC101929141 FBXW10 SLC5A10 ZNF286B TVP23B TRIM16L FAM83G FOXO3B
nsv953842	Chr.17:18947088 - 19049187 on Build GRCh38	Deletion	SLC5A10 FAM83G GRAP
nsv833391	Chr.17:18906887 - 19238887 on Build GRCh38	Loss	SNORD3C SLC5A10 GRAPL FAM83G SNORD3B-1 SNORD3B-2 SNORD3D PRPSAP2 LOC388436 SNORD3A EPN2 LOC79999 LOC102724624 GRAP
dgv565e214	Chr.17:18920166 - 19019319 on Build GRCh38	Gain	PRPSAP2 SLC5A10 FAM83G
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	SNORD3C SLC5A10 GRAPL FAM83G SNORD3B-1 SNORD3B-2 SNORD3D PRPSAP2 LOC388436 SNORD3A EPN2 EPN2-IT1 LOC79999 LOC102724624 GRAP
nsv9504	Chr.17:18389579 - 19238707 on Build GRCh38	Gain+Loss	LOC101929141 FBXW10 SLC5A10 FAM106A GRAPL KRT17P2 FLJ35934 FAM83G SNORD3B-1 LGALS9C FOXO3B LOC388436 EVPLL ZNF286B KRT16P1 LOC102724624 SNORD3C CCDC144B TVP23B TBC1D28 USP32P2 SNORD3B-2 SNORD3D PRPSAP2 SNORD3A EPN2 KRT17P5 TRIM16L LOC79999 GRAP
dgv5491n54	Chr.17:18921239 - 19014011 on Build GRCh38	Gain	PRPSAP2 SLC5A10 FAM83G
nsv470581	Chr.17:18947699 - 19014011 on Build GRCh38	Gain	SLC5A10 FAM83G
esv3572465	Chr.17:18971291 - 19019193 on Build GRCh38	Gain	SLC5A10 FAM83G

More Information

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

Panther Classification:

Molecular Function -

secondary carrier transporter

Gene Ontology Categories:

Process(es)

BMP signaling pathway
sodium ion transport
transmembrane transport

Function(s)

protein binding
symporter activity