Hs03407498_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130343955 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	NOC2LP1 SMPD4 MZT2B CYP4F62P IMP4 TUBA3E PTPN18 CCDC74B POTEF CCDC115 MED15P9 FAR2P2
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 PTPN18 CCDC115
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E FAR2P1 PTPN18 CCDC74B POTEF CCDC115 MED15P9
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E PTPN18 CCDC115
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E PTPN18 CCDC74B CCDC115 MED15P9
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E FAR2P1 PTPN18 CCDC74B POTEF CCDC115 MED15P9
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E PTPN18 CCDC74B CCDC115 MED15P9
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	POTEJ NOC2LP1 SMPD4 LOC107985778 PTPN18 CCDC115 CFC1B MZT2B CYP4F62P IMP4 POTEI TUBA3E CFC1 FAR2P2 LOC646743 TISP43
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E FAR2P1 PTPN18 CCDC74B POTEF CCDC115 MED15P9
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	NOC2LP1 MZT2B IMP4 TUBA3E CCDC115
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	CYP4F62P IMP4 PTPN18 CCDC115 FAR2P2
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	NOC2LP1 SMPD4 RAB6C PTPN18 CCDC74B LOC101927924 POTEF CCDC115 RAB6C-AS1 MED15P9 LOC101927881 LOC151121 MZT2B IMP4 TUBA3E FAR2P1 LOC389033
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	NOC2LP1 SMPD4 RAB6C PTPN18 CCDC74B LOC101927924 POTEF CCDC115 RAB6C-AS1 MED15P9 MZT2B IMP4 TUBA3E FAR2P1 LOC389033
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC107985778 ANKRD30BL C2orf27B PTPN18 CCDC74B POTEF CCDC115 MIR663B RAB6C-AS1 AMER3 CYP4F62P FAR2P1 LOC100507460 PLEKHB2 LOC150776 GPR39 CYP4F30P MED15P9 ARHGEF4 CFC1B FAM168B LINC01120 CCDC74A CFC1 TISP43 POTEKP POTEJ SMPD4 RAB6C ZNF806 LOC101927924 MIR4784 POTEE GPR148 IMP4 LOC389033 C2orf27A NOC2LP1 LINC01087 MZT2A TUBA3D LOC440910 MZT2B NOC2LP2 POTEI TUBA3E WTH3DI FAM201B FAR2P2 LOC646743
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	NOC2LP1 SMPD4 MZT2B IMP4 TUBA3E PTPN18 CCDC74B POTEF CCDC115 MED15P9
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	NOC2LP1 SMPD4 PTPN18 CCDC74B POTEF CCDC115 MED15P9 MZT2B CYP4F62P IMP4 POTEI TUBA3E FAR2P2
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	POTEJ SMPD4 LOC107985778 RAB6C PTPN18 CCDC74B LOC101927924 POTEF CCDC115 RAB6C-AS1 GPR148 AMER3 CYP4F62P IMP4 FAR2P1 LOC389033 NOC2LP1 CYP4F30P MED15P9 ARHGEF4 CFC1B MZT2B POTEI TUBA3E CFC1 FAR2P2 LOC646743 TISP43

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