Hs00705202_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130345583 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 92856
• Gene Name: IMP4 homolog, U3 small nucleolar ribonucleoprotein
• Gene Aliases: BXDC4
• Location: Chr.2:130342225-130347961 on Build GRCh38
• Assay Gene Location: Overlaps Intron 3 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMP4	NM_001320304.1			NP_001307233.1
	NM_001320305.1			NP_001307234.1
	NM_001320306.1			NP_001307235.1
	NM_001320307.1			NP_001307236.1
	NM_001320309.1			NP_001307238.1
	NM_001320310.1			NP_001307239.1
	NM_001320311.1			NP_001307240.1
	NM_033416.2			NP_219484.1
	AF054996.1
	AK289878.1
	AK292345.1
	AK312808.1
	AY364245.1			AAQ76804.1
	BC010042.1			AAH10042.1
	DA154765.1
	DA352603.1
	DA598011.1
	DA893334.1
	DA949366.1
	DB200539.1
	DB211328.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv998333	Chr.2:130059754 - 130454126 on Build GRCh38	Gain+Loss	CYP4F62P MED15P9 FAR2P2 SMPD4 POTEF NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	FAR2P1 MED15P9 SMPD4 POTEF NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	SMPD4 NOC2LP1 TUBA3E IMP4 MZT2B CCDC115 PTPN18
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	MED15P9 SMPD4 NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	FAR2P1 MED15P9 SMPD4 POTEF NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	MED15P9 SMPD4 NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	CYP4F62P CFC1 NOC2LP1 IMP4 CFC1B LOC107985778 POTEI LOC646743 PTPN18 FAR2P2 TISP43 POTEJ SMPD4 TUBA3E MZT2B CCDC115
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	FAR2P1 MED15P9 SMPD4 POTEF NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	NOC2LP1 TUBA3E IMP4 MZT2B CCDC115
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	CYP4F62P FAR2P2 IMP4 CCDC115 PTPN18
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	MED15P9 LOC101927924 NOC2LP1 IMP4 LOC389033 RAB6C LOC101927881 RAB6C-AS1 PTPN18 FAR2P1 SMPD4 POTEF TUBA3E LOC151121 MZT2B CCDC74B CCDC115
esv3592450	Chr.2:130282861 - 130401532 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
nsv583132	Chr.2:130255764 - 130390535 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
nsv1001073	Chr.2:130290533 - 130400286 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	MED15P9 LOC101927924 NOC2LP1 IMP4 LOC389033 RAB6C RAB6C-AS1 PTPN18 FAR2P1 SMPD4 POTEF TUBA3E MZT2B CCDC74B CCDC115
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	GPR148 CCDC74A CFC1 LOC150776 LOC389033 RAB6C RAB6C-AS1 PLEKHB2 MIR4784 SMPD4 CYP4F30P TUBA3D MZT2B LINC01087 CFC1B LOC107985778 FAM201B TISP43 POTEE CYP4F62P MED15P9 MIR663B NOC2LP1 IMP4 AMER3 MZT2A ZNF806 LOC440910 LOC646743 POTEKP FAR2P2 POTEF ARHGEF4 LINC01120 ANKRD30BL LOC101927924 GPR39 C2orf27A FAM168B LOC100507460 POTEI PTPN18 NOC2LP2 FAR2P1 WTH3DI POTEJ TUBA3E C2orf27B CCDC74B CCDC115
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	MED15P9 SMPD4 POTEF NOC2LP1 TUBA3E IMP4 MZT2B CCDC74B CCDC115 PTPN18
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	CYP4F62P MED15P9 NOC2LP1 IMP4 POTEI PTPN18 FAR2P2 SMPD4 POTEF TUBA3E MZT2B CCDC74B CCDC115
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	GPR148 CYP4F62P MED15P9 CFC1 NOC2LP1 IMP4 AMER3 LOC389033 RAB6C LOC646743 RAB6C-AS1 FAR2P2 SMPD4 POTEF CYP4F30P ARHGEF4 MZT2B LOC101927924 CFC1B LOC107985778 POTEI PTPN18 FAR2P1 TISP43 POTEJ TUBA3E CCDC74B CCDC115

More Information

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

Panther Classification:

Molecular Function -

RNA splicing factor

Gene Ontology Categories:

Process(es)

rRNA processing

Function(s)

protein binding
snoRNA binding
rRNA primary transcript binding