Hs01808766_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130346439 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	1549	NP_001307233.1
	NM_001320305.1	9	1501	NP_001307234.1
	NM_001320306.1	9	1568	NP_001307235.1
	NM_001320307.1	9	1595	NP_001307236.1
	NM_001320309.1	8	1705	NP_001307238.1
	NM_001320310.1	9	1582	NP_001307239.1
	NM_001320311.1	9	1573	NP_001307240.1
	NM_033416.2	9	1555	NP_219484.1
	AF054996.1	9	1370
	AK289878.1	9	883
	AK292345.1	9	883
	AK312808.1
	AY364245.1	8	847	AAQ76804.1
	BC010042.1	9	864	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 CCDC115 MED15P9 PTPN18 CYP4F62P NOC2LP1 FAR2P2 CCDC74B MZT2B IMP4 TUBA3E SMPD4
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	CCDC115 PTPN18 IMP4
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	FAR2P1 POTEF CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	CCDC115 PTPN18 NOC2LP1 MZT2B IMP4 TUBA3E SMPD4
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	FAR2P1 POTEF CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	CYP4F62P LOC646743 CFC1 CCDC115 CFC1B PTPN18 NOC2LP1 FAR2P2 POTEJ LOC107985778 TISP43 MZT2B IMP4 POTEI TUBA3E SMPD4
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	FAR2P1 POTEF CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	CCDC115 NOC2LP1 MZT2B IMP4 TUBA3E
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	CCDC115 PTPN18 CYP4F62P FAR2P2 IMP4
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	FAR2P1 POTEF LOC101927924 LOC389033 RAB6C-AS1 RAB6C CCDC115 MED15P9 PTPN18 NOC2LP1 LOC101927881 CCDC74B MZT2B IMP4 LOC151121 TUBA3E SMPD4
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	FAR2P1 POTEF LOC101927924 LOC389033 RAB6C-AS1 RAB6C CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	FAR2P1 POTEF LOC101927924 CFC1B AMER3 LOC440910 ZNF806 IMP4 POTEKP TUBA3E FAM201B GPR148 WTH3DI POTEE ARHGEF4 ANKRD30BL MED15P9 C2orf27A TISP43 NOC2LP2 FAM168B CYP4F62P LOC646743 MZT2A LINC01120 MIR663B CFC1 GPR39 LOC150776 RAB6C-AS1 RAB6C PTPN18 CYP4F30P NOC2LP1 LINC01087 LOC100507460 FAR2P2 LOC107985778 MZT2B CCDC74A MIR4784 C2orf27B PLEKHB2 LOC389033 CCDC115 TUBA3D POTEJ CCDC74B POTEI SMPD4
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	POTEF CCDC115 MED15P9 PTPN18 NOC2LP1 CCDC74B MZT2B IMP4 TUBA3E SMPD4
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	POTEF CYP4F62P CCDC115 MED15P9 PTPN18 NOC2LP1 FAR2P2 CCDC74B MZT2B IMP4 POTEI TUBA3E SMPD4
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	FAR2P1 POTEF CYP4F62P LOC646743 LOC101927924 CFC1 RAB6C-AS1 RAB6C CFC1B PTPN18 CYP4F30P AMER3 NOC2LP1 FAR2P2 LOC107985778 MZT2B IMP4 TUBA3E GPR148 LOC389033 ARHGEF4 CCDC115 MED15P9 POTEJ TISP43 CCDC74B POTEI SMPD4

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