Hs01234181_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130346038 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: Overlaps Intron 5 - Exon 6

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

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

More Information

• Set Membership: Intragenic, 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