Hs01349253_cn

• Gene Symbol: WHRN
• Assay Reference Genome Location: Chr.9:114402393 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: Within Exon 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
WHRN	NM_001083885.2	12	2576	NP_001077354.2
	NM_001173425.1	12	3737	NP_001166896.1
	NM_015404.3	12	3740	NP_056219.3
	XM_011518484.1	13	3826	XP_011516786.1
	XM_011518485.1	14	3674	XP_011516787.1
	XM_011518486.1	13	3823	XP_011516788.1
	XM_011518487.1	12	3700	XP_011516789.1
	XM_011518488.1	11	3583	XP_011516790.1
	XM_011518495.1	10	2078	XP_011516797.1
	AB040959.1	12	3254
	AK022854.1	8	2454	BAB14275.1
	AL110228.1	12	2534	CAB53685.2
	BC142614.1	12	3740
	BC142684.1	12	3715

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	ORM1 MIR455 TMEM268 ATP6V1G1 COL27A1 WHRN AKNA LOC100505478 ORM2
dgv7706n100	Chr.9:114182745 - 114697870 on Build GRCh38	Gain	ORM1 MIR455 TMEM268 ATP6V1G1 COL27A1 WHRN AKNA LOC100505478 ORM2
nsv831693	Chr.9:114354170 - 114519615 on Build GRCh38	Gain	WHRN AKNA
dgv33e196	Chr.9:114030664 - 114604363 on Build GRCh38	Duplication	ORM1 MIR455 TMEM268 ATP6V1G1 KIF12 COL27A1 WHRN ZNF618 AKNA ORM2 AMBP
nsv615233	Chr.9:114167820 - 114486199 on Build GRCh38	Gain	ORM1 MIR455 COL27A1 WHRN AKNA ORM2

More Information

• Set Membership: Intragenic, 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