Hs02348517_cn

• Gene Symbol: CCDC115
• Assay Reference Genome Location: Chr.2:130342270 on build GRCh38
• Cytoband: 2q21.1

Target Gene Details

• Entrez Gene ID: 84317
• Gene Name: coiled-coil domain containing 115
• Gene Aliases: CDG2O, ccp1
• Location: Chr.2:130337933-130342681 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CCDC115	NM_001321118.1	1	412	NP_001308047.1
	NM_032357.3	1	114	NP_115733.2
	NR_104471.1	1	412
	NR_135548.1	1	114
	AK054693.1	1	80	BAB70794.1
	AK295922.1	1	69
	DB025106.1	1	115
	DC340780.1	1	412

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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
IMP4	NM_001320304.1	1	46	NP_001307233.1
	NM_001320305.1	1	46	NP_001307234.1
	NM_001320306.1	1	46	NP_001307235.1
	NM_001320307.1	1	46	NP_001307236.1
	NM_001320309.1	1	46	NP_001307238.1
	NM_001320310.1	1	46	NP_001307239.1
	NM_001320311.1	1	46	NP_001307240.1
	NM_033416.2	1	46	NP_219484.1
	BU191740.1	1	56
	BX363351.2

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	NOC2LP1 FAR2P2 TUBA3E IMP4 CCDC74B CCDC115 PTPN18 POTEF MED15P9 CYP4F62P SMPD4 MZT2B
nsv459341	Chr.2:130281566 - 130390535 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
esv2760631	Chr.2:130005319 - 130400286 on Build GRCh38	Gain+Loss	NOC2LP1 TUBA3E FAR2P1 IMP4 CCDC74B CCDC115 PTPN18 POTEF MED15P9 SMPD4 MZT2B
dgv7079n54	Chr.2:130181715 - 130391244 on Build GRCh38	Loss	NOC2LP1 TUBA3E IMP4 CCDC115 PTPN18 SMPD4 MZT2B
nsv583113	Chr.2:130132813 - 130369588 on Build GRCh38	Gain	NOC2LP1 TUBA3E IMP4 CCDC74B CCDC115 PTPN18 MED15P9 SMPD4 MZT2B
esv3584065	Chr.2:130046530 - 130400286 on Build GRCh38	Loss	NOC2LP1 TUBA3E FAR2P1 IMP4 CCDC74B CCDC115 PTPN18 POTEF MED15P9 SMPD4 MZT2B
esv3592452	Chr.2:130316828 - 130342652 on Build GRCh38	Loss	IMP4 CCDC115
nsv520559	Chr.2:130133334 - 130390535 on Build GRCh38	Gain+Loss	NOC2LP1 TUBA3E IMP4 CCDC74B CCDC115 PTPN18 MED15P9 SMPD4 MZT2B
nsv1005664	Chr.2:130159287 - 130649604 on Build GRCh38	Loss	LOC646743 FAR2P2 TUBA3E IMP4 LOC107985778 PTPN18 TISP43 POTEI CYP4F62P MZT2B NOC2LP1 POTEJ CFC1 CFC1B CCDC115 SMPD4
esv2763387	Chr.2:130026123 - 130400286 on Build GRCh38	Loss	NOC2LP1 TUBA3E FAR2P1 IMP4 CCDC74B CCDC115 PTPN18 POTEF MED15P9 SMPD4 MZT2B
nsv818080	Chr.2:130185940 - 130352524 on Build GRCh38	Gain	NOC2LP1 TUBA3E IMP4 CCDC115 MZT2B
dgv7083n54	Chr.2:130236250 - 130440530 on Build GRCh38	Loss	FAR2P2 IMP4 CCDC115 PTPN18 CYP4F62P
nsv583046	Chr.2:128746961 - 130390535 on Build GRCh38	Loss	RAB6C-AS1 TUBA3E LOC151121 RAB6C IMP4 PTPN18 POTEF MED15P9 MZT2B NOC2LP1 LOC101927881 LOC101927924 FAR2P1 CCDC74B CCDC115 LOC389033 SMPD4
esv3592450	Chr.2:130282861 - 130401532 on Build GRCh38	Loss	IMP4 CCDC115 PTPN18
nsv583132	Chr.2:130255764 - 130390535 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
nsv1001073	Chr.2:130290533 - 130400286 on Build GRCh38	Gain	IMP4 CCDC115 PTPN18
esv2751826	Chr.2:129606158 - 130385563 on Build GRCh38	Gain	RAB6C-AS1 TUBA3E RAB6C IMP4 PTPN18 POTEF MED15P9 MZT2B NOC2LP1 LOC101927924 FAR2P1 CCDC74B CCDC115 LOC389033 SMPD4
esv2759092	Chr.2:129589265 - 132440430 on Build GRCh38	Gain+Loss	LOC646743 AMER3 PLEKHB2 GPR39 POTEF POTEI MZT2B C2orf27B LOC440910 LOC389033 MIR4784 FAR2P2 IMP4 LOC107985778 TISP43 NOC2LP2 CYP4F30P MED15P9 WTH3DI FAM201B LOC100507460 GPR148 FAM168B ZNF806 CCDC74A LINC01087 PTPN18 POTEKP TUBA3D NOC2LP1 LINC01120 POTEJ CFC1B CCDC74B CCDC115 MIR663B POTEE RAB6C-AS1 TUBA3E C2orf27A LOC150776 RAB6C CYP4F62P ANKRD30BL LOC101927924 FAR2P1 CFC1 ARHGEF4 MZT2A SMPD4
dgv4073n100	Chr.2:130091652 - 130400286 on Build GRCh38	Gain	NOC2LP1 TUBA3E IMP4 CCDC74B CCDC115 PTPN18 POTEF MED15P9 SMPD4 MZT2B
esv3893326	Chr.2:130080351 - 130492798 on Build GRCh38	Gain	FAR2P2 TUBA3E IMP4 PTPN18 POTEF POTEI MED15P9 CYP4F62P MZT2B NOC2LP1 CCDC74B CCDC115 SMPD4
nsv428403	Chr.2:129818076 - 130882067 on Build GRCh38	Loss	LOC646743 AMER3 GPR148 PTPN18 POTEF POTEI MZT2B NOC2LP1 POTEJ CFC1B CCDC74B CCDC115 LOC389033 FAR2P2 RAB6C-AS1 TUBA3E RAB6C IMP4 LOC107985778 TISP43 CYP4F30P MED15P9 CYP4F62P LOC101927924 FAR2P1 CFC1 ARHGEF4 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