Hs00684522_cn

• Gene Symbol: MIA-RAB4B
• Assay Reference Genome Location: Chr.19:40786857 on build GRCh38
• Cytoband: 19q13.2

Target Gene Details

• Entrez Gene ID: 100529262
• Gene Name: MIA-RAB4B readthrough (NMD candidate)
• Gene Aliases: -
• Location: Chr.19:40775537-40796944 on Build GRCh38
• Assay Gene Location: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIA-RAB4B	NR_037775.1
	AF087861.1			AAP97171.1

Target Gene Details

• Entrez Gene ID: 53916
• Gene Name: RAB4B, member RAS oncogene family
• Gene Aliases: -
• Location: Chr.19:40778219-40796944 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB4B	NM_016154.4			NP_057238.3
	AF165522.1			AAD45923.1
	AF217985.1			AAG17228.1
	AF498935.1			AAM21083.1
	AK024845.1
	BC033081.1			AAH33081.1
	BC046927.1			AAH46927.1
	BG706803.1

Target Gene Details

• Entrez Gene ID: 100529264
• Gene Name: RAB4B-EGLN2 readthrough (NMD candidate)
• Gene Aliases: RERT-lncRNA
• Location: Chr.19:40778219-40808441 on Build GRCh38
• Assay Gene Location: Overlaps Intron 6 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAB4B-EGLN2	NR_037791.1
	AK291385.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833832	Chr.19:40754458 - 40828692 on Build GRCh38	Loss	CYP2T1P SNRPA MIA-RAB4B EGLN2 RAB4B-EGLN2 RAB4B MIA
esv2758762	Chr.19:40785722 - 41040163 on Build GRCh38	Gain+Loss	CYP2T1P CYP2B6 CYP2G1P MIA-RAB4B EGLN2 RAB4B-EGLN2 CYP2B7P RAB4B CYP2A7P1 CYP2A7 CYP2A6

More Information

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

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
protein transport
regulation of endocytosis
glucose import

Function(s)

molecular_function
protein binding
GTP binding