Hs00198143_cn

• Gene Symbol: FAM83G
• Assay Reference Genome Location: Chr.17:18978434 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: Within Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM83G	NM_001039999.2	5	1399	NP_001035088.2
	XM_017024953.1	5	1483	XP_016880442.1
	AK123558.1	3	1669	BAC85645.1
	BX365956.2	2	488
	BX402942.2	1	113

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
nsv574552	Chr.17:18926974 - 18987449 on Build GRCh38	Gain	FAM83G PRPSAP2 SLC5A10
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	SNORD3C FAM83G LOC79999 EPN2 SNORD3D GRAPL PRPSAP2 SNORD3B-2 SNORD3B-1 LOC388436 GRAP LOC102724624 SNORD3A EPN2-IT1 SLC5A10
dgv3116n100	Chr.17:18957985 - 19190235 on Build GRCh38	Gain	SNORD3D SNORD3C GRAPL FAM83G LOC79999 SNORD3B-2 SNORD3B-1 GRAP LOC102724624 SNORD3A SLC5A10
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	SNORD3C FAM83G LOC79999 EPN2 SNORD3D GRAPL PRPSAP2 SNORD3B-2 SNORD3B-1 LOC388436 GRAP LOC102724624 SNORD3A EPN2-IT1 SLC5A10
nsv1057803	Chr.17:18561260 - 19019420 on Build GRCh38	Loss	TRIM16L FAM83G CCDC144B TBC1D28 FOXO3B PRPSAP2 FBXW10 LOC101929141 ZNF286B TVP23B SLC5A10
nsv953842	Chr.17:18947088 - 19049187 on Build GRCh38	Deletion	FAM83G GRAP SLC5A10
nsv523721	Chr.17:18659407 - 19014011 on Build GRCh38	Gain	TRIM16L FAM83G FOXO3B PRPSAP2 FBXW10 LOC101929141 ZNF286B TVP23B SLC5A10
nsv833391	Chr.17:18906887 - 19238887 on Build GRCh38	Loss	SNORD3C FAM83G LOC79999 EPN2 SNORD3D GRAPL PRPSAP2 SNORD3B-2 SNORD3B-1 LOC388436 GRAP LOC102724624 SNORD3A SLC5A10
dgv565e214	Chr.17:18920166 - 19019319 on Build GRCh38	Gain	FAM83G PRPSAP2 SLC5A10
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	SNORD3C FAM83G LOC79999 EPN2 SNORD3D GRAPL PRPSAP2 SNORD3B-2 SNORD3B-1 LOC388436 GRAP LOC102724624 SNORD3A EPN2-IT1 SLC5A10
nsv9504	Chr.17:18389579 - 19238707 on Build GRCh38	Gain+Loss	CCDC144B FOXO3B USP32P2 FBXW10 LGALS9C KRT16P1 LOC101929141 EVPLL LOC388436 LOC102724624 SLC5A10 KRT17P2 SNORD3C FAM83G LOC79999 KRT17P5 TBC1D28 EPN2 SNORD3D TRIM16L GRAPL FAM106A FLJ35934 PRPSAP2 SNORD3B-2 SNORD3B-1 GRAP SNORD3A ZNF286B TVP23B
dgv5491n54	Chr.17:18921239 - 19014011 on Build GRCh38	Gain	FAM83G PRPSAP2 SLC5A10
nsv470581	Chr.17:18947699 - 19014011 on Build GRCh38	Gain	FAM83G SLC5A10
esv3572465	Chr.17:18971291 - 19019193 on Build GRCh38	Gain	FAM83G SLC5A10

More Information

• Set Membership: Intragenic, Exonic, 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