Hs03958191_cn

• Gene Symbol: B9D1
• Assay Reference Genome Location: Chr.17:19340905 on build GRCh38
• Cytoband: 17p11.2

Target Gene Details

• Entrez Gene ID: 27077
• Gene Name: B9 domain containing 1
• Gene Aliases: B9, EPPB9, MKS9, MKSR1
• Location: Chr.17:19335372-19378193 on Build GRCh38
• Assay Gene Location: Overlaps Intron 11 - Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
B9D1	NM_001243475.2			NP_001230404.1
	NM_001321217.1			NP_001308146.1
	NM_001321218.1			NP_001308147.1
	NM_001321219.1			NP_001308148.1
	AK309320.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833393	Chr.17:19146950 - 19361795 on Build GRCh38	Gain+Loss	EPN2-IT1 LOC388436 EPN2 LOC79999 SNORD3C EPN2-AS1 SNORD3A MIR1180 B9D1 GRAPL
esv3582561	Chr.17:19240831 - 19585268 on Build GRCh38	Loss	EPN2-IT1 EPN2 MAPK7 RPS2P46 SLC47A1 EPN2-AS1 RNF112 MIR1180 SNORA59B MFAP4 B9D1
nsv1061317	Chr.17:19047542 - 20322438 on Build GRCh38	Gain	EPN2 LOC79999 LOC100131943 RPS2P46 SLC47A1 SNORD3A RNF112 B9D1 CCDC144CP EPN2-IT1 MAPK7 MIR1180 LOC102724624 SNORD3B-2 SPECC1 GRAPL SNORD3D SNORD3B-1 SNORA59B MFAP4 LOC388436 SLC47A2 SNORD3C ALDH3A2 GRAP EPN2-AS1 ULK2 ALDH3A1 AKAP10

More Information

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

Panther Classification:

Molecular Function -

structural protein

Gene Ontology Categories:

Process(es)

in utero embryonic development
vasculature development
smoothened signaling pathway
regulation of protein localization
cilium assembly
embryonic digit morphogenesis
camera-type eye development
cilium morphogenesis
neuroepithelial cell differentiation

Function(s)

hedgehog receptor activity