Hs03421361_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130342880 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMP4	NM_001320304.1	1	656	NP_001307233.1
	NM_001320305.1	1	656	NP_001307234.1
	NM_001320306.1	1	656	NP_001307235.1
	NM_001320307.1	1	656	NP_001307236.1
	NM_001320309.1	1	656	NP_001307238.1
	NM_001320310.1	1	656	NP_001307239.1
	NM_001320311.1	1	656	NP_001307240.1
	NM_033416.2	1	656	NP_219484.1
	AF054996.1	1	471
	AK289878.1
	AK292345.1
	AK312808.1
	BU191740.1	1	666
	BX363351.2	1	623
	DA154765.1
	DA352603.1
	DA598011.1
	DA893334.1
	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	IMP4 CCDC74B MED15P9 FAR2P2 POTEF SMPD4 CYP4F62P NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 PTPN18 CCDC115
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	IMP4 CCDC74B MED15P9 POTEF SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B FAR2P1
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	IMP4 SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	IMP4 CCDC74B MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	IMP4 CCDC74B MED15P9 POTEF SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B FAR2P1
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	IMP4 CCDC74B MED15P9 SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	CFC1B NOC2LP1 PTPN18 CCDC115 MZT2B CFC1 IMP4 FAR2P2 POTEI TISP43 SMPD4 LOC107985778 CYP4F62P TUBA3E POTEJ LOC646743
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	IMP4 CCDC74B MED15P9 POTEF SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B FAR2P1
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	IMP4 NOC2LP1 TUBA3E CCDC115 MZT2B
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	IMP4 FAR2P2 CYP4F62P PTPN18 CCDC115
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	CCDC74B LOC389033 MED15P9 LOC101927881 POTEF NOC2LP1 RAB6C-AS1 PTPN18 CCDC115 MZT2B IMP4 SMPD4 LOC151121 TUBA3E LOC101927924 RAB6C FAR2P1
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	CCDC74B LOC389033 MED15P9 POTEF NOC2LP1 RAB6C-AS1 PTPN18 CCDC115 MZT2B IMP4 SMPD4 TUBA3E LOC101927924 RAB6C FAR2P1
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	NOC2LP2 LOC389033 MED15P9 CYP4F30P PTPN18 AMER3 GPR148 MIR4784 FAR2P2 LOC107985778 TUBA3E RAB6C CCDC74A FAM201B FAR2P1 POTEE MZT2A MZT2B LOC101927924 POTEJ POTEKP CCDC74B CFC1B NOC2LP1 LOC100507460 CFC1 LINC01120 POTEI TISP43 LOC440910 SMPD4 ARHGEF4 CYP4F62P C2orf27B ZNF806 ANKRD30BL LOC150776 PLEKHB2 LINC01087 POTEF WTH3DI C2orf27A RAB6C-AS1 GPR39 CCDC115 TUBA3D FAM168B IMP4 MIR663B LOC646743
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	IMP4 CCDC74B MED15P9 POTEF SMPD4 NOC2LP1 TUBA3E PTPN18 CCDC115 MZT2B
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	CCDC74B MED15P9 POTEF NOC2LP1 PTPN18 CCDC115 MZT2B IMP4 FAR2P2 POTEI SMPD4 CYP4F62P TUBA3E
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	CCDC74B LOC389033 MED15P9 CFC1B NOC2LP1 CYP4F30P PTPN18 AMER3 CFC1 GPR148 FAR2P2 POTEI TISP43 SMPD4 ARHGEF4 LOC107985778 CYP4F62P TUBA3E RAB6C FAR2P1 POTEF RAB6C-AS1 CCDC115 MZT2B IMP4 LOC101927924 POTEJ LOC646743

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