Hs00254913_cn

• Gene Symbol: FAM83G
• Assay Reference Genome Location: Chr.17:18977800 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	2033	NP_001035088.2
	XM_017024953.1	5	2117	XP_016880442.1
	AK123558.1	3	2303	BAC85645.1
	BC105988.1			AAI05989.1
	BX402942.2	1	747
	DY655105.1	1	103

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