Hs01439443_cn

• Gene Symbol: FAM118B
• Assay Reference Genome Location: Chr.11:126211541 on build GRCh38
• Cytoband: 11q24.2

Target Gene Details

• Entrez Gene ID: 79607
• Gene Name: family with sequence similarity 118 member B
• Gene Aliases: -
• Location: Chr.11:126211414-126264540 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
FAM118B	XM_005271665.3	1	128	XP_005271722.1
	XM_011542978.2	1	128	XP_011541280.1
	XM_017018286.1	1	128	XP_016873775.1

Target Gene Details

• Entrez Gene ID: 84881
• Gene Name: RNA pseudouridylate synthase domain containing 4
• Gene Aliases: -
• Location: Chr.11:126202094-126211692 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RPUSD4	NM_001144827.1	1	152	NP_001138299.1
	NM_032795.2	1	152	NP_116184.2
	XM_011543039.2	1	122	XP_011541341.1
	AK027400.1	1	106	BAB55086.1
	AK225320.1	1	112
	AK308059.1	1	106
	BC014131.2	1	113	AAH14131.1
	DB051034.1	1	152

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv556529	Chr.11:126204297 - 126264724 on Build GRCh38	Loss	SRPRA FAM118B RPUSD4
nsv556527	Chr.11:126172311 - 126211508 on Build GRCh38	Loss	FAM118B RPUSD4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Process(es)

Cajal body organization
tRNA pseudouridine synthesis

Function(s)

protein binding
pseudouridine synthase activity
deaminase activity
poly(A) RNA binding