Hs00172754_cn

• Gene Symbol: WHRN
• Assay Reference Genome Location: Chr.9:114402929 on build GRCh38
• Cytoband: 9q32

Target Gene Details

• Entrez Gene ID: 25861
• Gene Name: whirlin
• Gene Aliases: CIP98, DFNB31, PDZD7B, USH2D, WI
• Location: Chr.9:114402078-114505509 on Build GRCh38
• Assay Gene Location: Overlaps Intron 16 - Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WHRN	NM_001083885.2			NP_001077354.2
	NM_001173425.1			NP_001166896.1
	NM_015404.3			NP_056219.3
	XM_011518484.1			XP_011516786.1
	XM_011518485.1			XP_011516787.1
	XM_011518486.1			XP_011516788.1
	XM_011518487.1			XP_011516789.1
	XM_011518488.1			XP_011516790.1
	XM_011518495.1			XP_011516797.1
	AB040959.1
	AK022854.1			BAB14275.1
	AL110228.1			CAB53685.2
	BC136416.1
	BC142614.1
	BC142684.1
	BX329269.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv948n27	Chr.9:114193988 - 114693895 on Build GRCh38	Gain	MIR455 LOC100505478 AKNA WHRN ATP6V1G1 TMEM268 ORM2 COL27A1 ORM1
dgv7706n100	Chr.9:114182745 - 114697870 on Build GRCh38	Gain	MIR455 LOC100505478 AKNA WHRN ATP6V1G1 TMEM268 ORM2 COL27A1 ORM1
nsv831693	Chr.9:114354170 - 114519615 on Build GRCh38	Gain	AKNA WHRN
dgv33e196	Chr.9:114030664 - 114604363 on Build GRCh38	Duplication	KIF12 MIR455 ZNF618 AKNA WHRN ATP6V1G1 AMBP TMEM268 ORM2 COL27A1 ORM1
nsv615233	Chr.9:114167820 - 114486199 on Build GRCh38	Gain	MIR455 AKNA WHRN ORM2 COL27A1 ORM1

More Information

Additional Information:

For this assay, SNP(s) [rs117592152] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

cytoskeletal protein

Gene Ontology Categories:

Process(es)

retina homeostasis
sensory perception of sound
sensory perception of light stimulus
inner ear receptor stereocilium organization

Function(s)

protein binding