Hs02068473_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130345877 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 Exon 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMP4	NM_001320304.1	6	1240	NP_001307233.1
	NM_001320305.1	6	1192	NP_001307234.1
	NM_001320306.1	6	1259	NP_001307235.1
	NM_001320307.1	6	1286	NP_001307236.1
	NM_001320309.1	5	1396	NP_001307238.1
	NM_001320310.1	6	1273	NP_001307239.1
	NM_001320311.1	6	1264	NP_001307240.1
	NM_033416.2	6	1246	NP_219484.1
	AF054996.1	6	1061
	AK289878.1	6	574
	AK292345.1	6	574
	AK312808.1	6	574
	AY364245.1	5	538	AAQ76804.1
	BC010042.1	6	555	AAH10042.1
	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 CCDC74B MZT2B FAR2P2 CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18 CYP4F62P
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	POTEF IMP4 CCDC74B FAR2P1 MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	IMP4 MZT2B CCDC115 SMPD4 NOC2LP1 TUBA3E PTPN18
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	IMP4 CCDC74B MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	POTEF IMP4 CCDC74B FAR2P1 MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	IMP4 CCDC74B MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	TISP43 CFC1B POTEJ POTEI CFC1 FAR2P2 CCDC115 LOC646743 SMPD4 NOC2LP1 PTPN18 IMP4 MZT2B LOC107985778 TUBA3E CYP4F62P
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	POTEF IMP4 CCDC74B FAR2P1 MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	IMP4 MZT2B CCDC115 NOC2LP1 TUBA3E
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	IMP4 FAR2P2 CCDC115 PTPN18 CYP4F62P
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	POTEF RAB6C FAR2P1 LOC389033 RAB6C-AS1 CCDC115 MED15P9 SMPD4 NOC2LP1 LOC101927924 PTPN18 LOC151121 IMP4 CCDC74B MZT2B LOC101927881 TUBA3E
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	POTEF RAB6C FAR2P1 LOC389033 RAB6C-AS1 CCDC115 MED15P9 SMPD4 NOC2LP1 LOC101927924 PTPN18 IMP4 CCDC74B MZT2B TUBA3E
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	RAB6C FAR2P1 LOC389033 LINC01087 POTEJ FAR2P2 NOC2LP1 C2orf27A CCDC74B MZT2A CYP4F30P LOC107985778 TUBA3E FAM168B CCDC74A RAB6C-AS1 CFC1B GPR148 GPR39 LOC101927924 IMP4 PLEKHB2 ANKRD30BL TUBA3D POTEF LOC100507460 POTEI CCDC115 MIR663B NOC2LP2 ZNF806 MZT2B ARHGEF4 POTEKP LINC01120 TISP43 C2orf27B MIR4784 CFC1 FAM201B MED15P9 LOC646743 SMPD4 PTPN18 POTEE AMER3 LOC440910 LOC150776 WTH3DI CYP4F62P
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	POTEF IMP4 CCDC74B MZT2B CCDC115 MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	POTEF POTEI FAR2P2 CCDC115 MED15P9 SMPD4 NOC2LP1 PTPN18 IMP4 CCDC74B MZT2B TUBA3E CYP4F62P
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEF RAB6C FAR2P1 LOC389033 POTEJ POTEI FAR2P2 CCDC115 NOC2LP1 CCDC74B MZT2B ARHGEF4 CYP4F30P LOC107985778 TUBA3E RAB6C-AS1 TISP43 CFC1B GPR148 CFC1 MED15P9 LOC646743 SMPD4 LOC101927924 PTPN18 IMP4 AMER3 CYP4F62P

More Information

• Set Membership: Intragenic, 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