Hs00978588_cn

• Gene Symbol: FAM83G
• Assay Reference Genome Location: Chr.17:19003538 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 3 - Exon 3

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			BAC85645.1
	CN370352.1
	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
esv33572	Chr.17:18919047 - 19291177 on Build GRCh38	Gain	SNORD3B-2 LOC388436 FAM83G EPN2-IT1 GRAP SLC5A10 SNORD3C LOC102724624 SNORD3B-1 LOC79999 SNORD3D SNORD3A EPN2 PRPSAP2 GRAPL
nsv1057803	Chr.17:18561260 - 19019420 on Build GRCh38	Loss	TVP23B CCDC144B LOC101929141 FAM83G PRPSAP2 TRIM16L ZNF286B FOXO3B SLC5A10 FBXW10 TBC1D28
esv2758678	Chr.17:18927303 - 19288734 on Build GRCh38	Gain+Loss	SNORD3B-2 LOC388436 FAM83G EPN2-IT1 GRAP SLC5A10 SNORD3C LOC102724624 SNORD3B-1 LOC79999 SNORD3D SNORD3A EPN2 PRPSAP2 GRAPL
dgv3116n100	Chr.17:18957985 - 19190235 on Build GRCh38	Gain	SNORD3B-2 SNORD3D FAM83G SNORD3A GRAP SLC5A10 GRAPL SNORD3C LOC102724624 SNORD3B-1 LOC79999
nsv523721	Chr.17:18659407 - 19014011 on Build GRCh38	Gain	TVP23B LOC101929141 FAM83G PRPSAP2 TRIM16L ZNF286B FOXO3B SLC5A10 FBXW10
nsv953842	Chr.17:18947088 - 19049187 on Build GRCh38	Deletion	FAM83G GRAP SLC5A10
nsv833391	Chr.17:18906887 - 19238887 on Build GRCh38	Loss	SNORD3B-2 LOC388436 FAM83G GRAP SLC5A10 SNORD3C LOC102724624 SNORD3B-1 LOC79999 SNORD3D SNORD3A EPN2 PRPSAP2 GRAPL
dgv565e214	Chr.17:18920166 - 19019319 on Build GRCh38	Gain	FAM83G PRPSAP2 SLC5A10
nsv428336	Chr.17:18927239 - 19288734 on Build GRCh38	Gain+Loss	SNORD3B-2 LOC388436 FAM83G EPN2-IT1 GRAP SLC5A10 SNORD3C LOC102724624 SNORD3B-1 LOC79999 SNORD3D SNORD3A EPN2 PRPSAP2 GRAPL
nsv9504	Chr.17:18389579 - 19238707 on Build GRCh38	Gain+Loss	GRAP SLC5A10 SNORD3C LOC102724624 SNORD3B-1 TBC1D28 LOC79999 LOC101929141 SNORD3A EPN2 FOXO3B FBXW10 CCDC144B SNORD3B-2 LOC388436 EVPLL FAM83G TRIM16L ZNF286B LGALS9C KRT16P1 TVP23B KRT17P5 SNORD3D FLJ35934 USP32P2 FAM106A PRPSAP2 KRT17P2 GRAPL
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, 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