Hs03425479_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130343339 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: Within Intron 1

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
	BX363351.2
	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	POTEF IMP4 NOC2LP1 SMPD4 CCDC74B FAR2P2 CYP4F62P TUBA3E MED15P9 MZT2B PTPN18 CCDC115
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 PTPN18 CCDC115
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	POTEF IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 FAR2P1 MZT2B PTPN18 CCDC115
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	IMP4 NOC2LP1 SMPD4 TUBA3E MZT2B PTPN18 CCDC115
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 MZT2B PTPN18 CCDC115
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	POTEF IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 FAR2P1 MZT2B PTPN18 CCDC115
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 MZT2B PTPN18 CCDC115
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	SMPD4 TISP43 LOC646743 FAR2P2 CFC1B TUBA3E MZT2B PTPN18 CFC1 POTEJ IMP4 NOC2LP1 POTEI LOC107985778 CYP4F62P CCDC115
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	POTEF IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 FAR2P1 MZT2B PTPN18 CCDC115
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	IMP4 NOC2LP1 TUBA3E MZT2B CCDC115
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	IMP4 FAR2P2 CYP4F62P PTPN18 CCDC115
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	LOC151121 SMPD4 TUBA3E MZT2B PTPN18 LOC389033 RAB6C LOC101927881 POTEF IMP4 LOC101927924 NOC2LP1 RAB6C-AS1 CCDC74B MED15P9 FAR2P1 CCDC115
esv3592450	Chr.2:130282861 - 130401532 on Build GRCh38	Loss	IMP4 PTPN18 CCDC115
nsv583132	Chr.2:130255764 - 130390535 on Build GRCh38	Gain	IMP4 PTPN18 CCDC115
nsv1001073	Chr.2:130290533 - 130400286 on Build GRCh38	Gain	IMP4 PTPN18 CCDC115
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	SMPD4 TUBA3E MZT2B PTPN18 LOC389033 RAB6C POTEF IMP4 LOC101927924 NOC2LP1 RAB6C-AS1 CCDC74B MED15P9 FAR2P1 CCDC115
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	POTEKP MIR4784 FAR2P2 TUBA3E LINC01087 LOC440910 CFC1 LOC389033 FAM201B POTEF LOC101927924 RAB6C-AS1 FAR2P1 PLEKHB2 C2orf27B CYP4F30P LOC100507460 CFC1B LOC150776 LINC01120 MZT2B PTPN18 IMP4 MIR663B NOC2LP1 POTEE POTEI CCDC74B LOC107985778 ARHGEF4 MED15P9 NOC2LP2 MZT2A CCDC74A GPR39 ANKRD30BL WTH3DI POTEJ C2orf27A GPR148 CCDC115 TUBA3D SMPD4 TISP43 LOC646743 FAM168B RAB6C AMER3 ZNF806 CYP4F62P
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	POTEF IMP4 NOC2LP1 SMPD4 CCDC74B TUBA3E MED15P9 MZT2B PTPN18 CCDC115
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	SMPD4 FAR2P2 TUBA3E MZT2B PTPN18 POTEF IMP4 NOC2LP1 POTEI CCDC74B CYP4F62P MED15P9 CCDC115
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	FAR2P2 TUBA3E CFC1 LOC389033 POTEJ POTEF LOC101927924 GPR148 RAB6C-AS1 FAR2P1 CCDC115 SMPD4 CYP4F30P TISP43 LOC646743 CFC1B MZT2B PTPN18 RAB6C AMER3 IMP4 NOC2LP1 POTEI CCDC74B LOC107985778 ARHGEF4 CYP4F62P MED15P9

More Information

• Set Membership: Intragenic, Intronic, 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