Hs03713254_cn

• Gene Symbol: AKNA
• Assay Reference Genome Location: Chr.9:114344507 on build GRCh38
• Cytoband: 9q32

Target Gene Details

• Entrez Gene ID: 80709
• Gene Name: AT-hook transcription factor
• Gene Aliases: -
• Location: Chr.9:114334149-114398498 on Build GRCh38
• Assay Gene Location: Within Exon 24

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AKNA	NM_001317950.1			NP_001304879.1
	NM_001317952.1			NP_001304881.1
	NM_030767.5			NP_110394.3
	XM_005252244.2			XP_005252301.1
	XM_005252245.1			XP_005252302.1
	XM_005252247.4			XP_005252304.1
	XM_005252248.2			XP_005252305.1
	XM_006717294.1			XP_006717357.1
	XM_011519063.2			XP_011517365.1
	XM_011519064.2	19	4457	XP_011517366.1
	XM_011519065.2			XP_011517367.2
	XM_017015172.1			XP_016870661.1
	AF286341.1			AAK83024.1
	AK024431.1			BAB15721.1
	AK074040.1			BAB84866.1
	AK131082.2			BAC85132.1
	AK160382.1			BAD18725.1
	AL713755.1	2	1609
	AL833220.1
	AY703039.1			AAU34186.1
	AY703040.1			AAU34187.1
	AY703043.1			AAU34190.1
	AY703044.1			AAU34191.1
	AY703045.1			AAU34192.1
	AY703046.1			AAU34193.1
	BC042202.1
	BC055285.1			AAH55285.1

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	TMEM268 ATP6V1G1 ORM2 ORM1 LOC100505478 WHRN MIR455 COL27A1 AKNA
nsv1161903	Chr.9:114340988 - 114388671 on Build GRCh38	Deletion	AKNA
nsv509319	Chr.9:114297186 - 114380605 on Build GRCh38	Insertion	ORM2 ORM1 COL27A1 AKNA
dgv7706n100	Chr.9:114182745 - 114697870 on Build GRCh38	Gain	TMEM268 ATP6V1G1 ORM2 ORM1 LOC100505478 WHRN MIR455 COL27A1 AKNA
dgv33e196	Chr.9:114030664 - 114604363 on Build GRCh38	Duplication	TMEM268 ZNF618 ATP6V1G1 ORM2 ORM1 AMBP KIF12 WHRN MIR455 COL27A1 AKNA
nsv471320	Chr.9:114284841 - 114346385 on Build GRCh38	Gain	ORM2 ORM1 COL27A1 AKNA
nsv615233	Chr.9:114167820 - 114486199 on Build GRCh38	Gain	ORM2 ORM1 WHRN MIR455 COL27A1 AKNA

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

transcription from RNA polymerase II promoter
positive regulation of transcription from RNA polymerase II promoter

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding