Hs00838765_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130346580 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 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMP4	NM_001320304.1	9	1690	NP_001307233.1
	NM_001320305.1	9	1642	NP_001307234.1
	NM_001320306.1	9	1709	NP_001307235.1
	NM_001320307.1	9	1736	NP_001307236.1
	NM_001320309.1	8	1846	NP_001307238.1
	NM_001320310.1	9	1723	NP_001307239.1
	NM_001320311.1	9	1714	NP_001307240.1
	NM_033416.2	9	1696	NP_219484.1
	AF054996.1
	AK289878.1	9	1024
	AK292345.1
	AY364245.1			AAQ76804.1
	BC010042.1			AAH10042.1

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

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