Hs00667409_cn

• Gene Symbol: IMP4
• Assay Reference Genome Location: Chr.2:130344702 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 2 - Intron 2

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