Hs02650278_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130345458 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 Exon 3 - Intron 3

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

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