Hs03346646_cn

• Gene Symbol: CPSF3L
• Assay Reference Genome Location: Chr.1:1315935 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 54973
• Gene Name: cleavage and polyadenylation specific factor 3-like
• Gene Aliases: CPSF73L, INT11, INTS11, RC-68, RC68
• Location: Chr.1:1311585-1324687 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CPSF3L	NM_001256456.1			NP_001243385.1
	NM_001256460.1			NP_001243389.1
	NM_001256462.1			NP_001243391.1
	NM_001256463.1			NP_001243392.1
	NM_017871.5			NP_060341.2
	XM_011541647.1			XP_011539949.1
	XM_011541648.1			XP_011539950.1
	XM_011541650.1			XP_011539952.1
	XM_017001557.1			XP_016857046.1
	XM_017001558.1			XP_016857047.1
	AK021939.1			BAB13943.1
	AK023356.1			BAB14541.1
	AK056652.1
	AK058018.1
	AK092190.1
	AK291387.1
	AK297350.1
	AL136813.1			CAB66747.1
	BC000675.2			AAH00675.2
	BC007978.2			AAH07978.1
	BC008041.2			AAH08041.1
	BC020199.1			AAH20199.1
	CR533557.1			CAG38588.1
	DC295791.1
	DC299237.1
	DC299993.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3366182	Chr.1:1315609 - 1315907 on Build GRCh38	Duplication	CPSF3L
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	FAM138A OR4F5 MIR6859-2 LOC100132287 PLEKHN1 FAM87B SLC35E2 ATAD3B OR4F16 UBE2J2 LOC107985728 LOC107985729 TAS1R3 LOC102725121 MTND1P23 LOC100287934 CDK11A NADK MMP23A LOC105378592 MIR6727 FAAP20 GNB1 LINC01342 AGRN LOC102724312 ATAD3A MORN1 PUSL1 LOC107984841 PERM1 FAM132A MIR200A ANKRD65 TMEM88B LOC100288069 MIR429 CPTP LOC100130417 SAMD11 ISG15 PRKCZ TMEM52 SDF4 LOC284600 TMEM240 GABRD LINC01128 AURKAIP1 LINC00115 TNFRSF18 RNF223 OR4F29 SKI TNFRSF4 MIR1302-2 LOC105378591 DDX11L1 LOC100134822 FAM41C SSU72 CALML6 LOC105378947 LOC101928626 CPSF3L MIR6808 CFAP74 HES4 KLHL17 LOC105378589 LOC100288175 CDK11B MIB2 MRPL20 ACAP3 TTLL10 TTLL10-AS1 MIR6723 LOC729737 FNDC10 WASH7P C1orf159 LOC105378949 CCNL2 LOC105378948 MTND2P28 DVL1 LOC100129534 MIR200B MIR6726 LOC100506504 SCNN1D LOC100133331 NOC2L LOC148413 MXRA8 VWA1 ATAD3C B3GALT6 MIR6859-1 MMP23B SLC35E2B
nsv544971	Chr.1:1294063 - 1351426 on Build GRCh38	Loss	CPTP MIR6808 DVL1 MIR6727 TAS1R3 MIR6726 PUSL1 ACAP3 CPSF3L
nsv544969	Chr.1:1290683 - 1374597 on Build GRCh38	Loss	CPTP SCNN1D MIR6808 DVL1 MIR6727 TAS1R3 MIR6726 PUSL1 ACAP3 CPSF3L MXRA8 AURKAIP1
nsv997291	Chr.1:1306835 - 1376336 on Build GRCh38	Gain	CPTP MIR6808 DVL1 MIR6727 TAS1R3 PUSL1 ACAP3 CPSF3L MXRA8 AURKAIP1
nsv470680	Chr.1:1070426 - 1378635 on Build GRCh38	Loss	TNFRSF18 RNF223 TNFRSF4 PUSL1 C1orf159 FAM132A MIR200A DVL1 MIR200B MIR6726 UBE2J2 MIR429 CPSF3L CPTP SCNN1D MIR6808 TAS1R3 ACAP3 MXRA8 SDF4 TTLL10 TTLL10-AS1 MIR6727 B3GALT6 LINC01342 AURKAIP1
dgv6n100	Chr.1:1301750 - 1362354 on Build GRCh38	Gain+Loss	CPTP MIR6808 DVL1 MIR6727 TAS1R3 PUSL1 ACAP3 CPSF3L MXRA8
esv3584992	Chr.1:1314419 - 1330342 on Build GRCh38	Gain	CPTP CPSF3L
nsv1160788	Chr.1:1282706 - 1376336 on Build GRCh38	Deletion	CPTP SCNN1D MIR6808 DVL1 MIR6727 TAS1R3 MIR6726 PUSL1 ACAP3 CPSF3L MXRA8 AURKAIP1
nsv1160772	Chr.1:1027585 - 1333467 on Build GRCh38	Duplication	TNFRSF18 RNF223 TNFRSF4 PUSL1 C1orf159 FAM132A LOC105378948 MIR200A MIR200B MIR6726 UBE2J2 MIR429 CPSF3L CPTP SCNN1D LOC100288175 TAS1R3 ACAP3 SDF4 TTLL10 TTLL10-AS1 MIR6727 B3GALT6 LINC01342 AGRN
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	LINC00115 TNFRSF18 RNF223 TNFRSF4 PLEKHN1 FAM87B FAM41C SLC35E2 SSU72 ATAD3B UBE2J2 CPSF3L LOC107985728 MIR6808 HES4 KLHL17 LOC100288175 CDK11B LOC107985729 TAS1R3 MIB2 LOC100287934 CDK11A NADK MRPL20 MMP23A ACAP3 TTLL10 TTLL10-AS1 MIR6727 FNDC10 LINC01342 AGRN LOC102724312 ATAD3A PUSL1 C1orf159 PERM1 CCNL2 FAM132A LOC105378948 MIR200A DVL1 ANKRD65 TMEM88B MIR200B MIR6726 LOC100288069 MIR429 CPTP SCNN1D LOC100130417 SAMD11 ISG15 NOC2L LOC148413 MXRA8 VWA1 SDF4 LOC284600 ATAD3C B3GALT6 TMEM240 MMP23B SLC35E2B LINC01128 AURKAIP1
esv3890636	Chr.1:1304555 - 1353203 on Build GRCh38	Loss	CPTP MIR6808 DVL1 MIR6727 TAS1R3 PUSL1 ACAP3 CPSF3L MXRA8
nsv1000169	Chr.1:1281678 - 1362354 on Build GRCh38	Gain	CPTP SCNN1D MIR6808 DVL1 MIR6727 TAS1R3 MIR6726 PUSL1 ACAP3 CPSF3L MXRA8
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	TNFRSF18 TNFRSF4 PUSL1 C1orf159 CCNL2 FAM132A MIR200A DVL1 ANKRD65 TMEM88B MIR200B MIR6726 SSU72 ATAD3B UBE2J2 MIR429 CPSF3L CPTP SCNN1D MIR6808 CDK11B LOC107985729 TAS1R3 MIB2 MRPL20 LOC148413 ACAP3 MXRA8 VWA1 SDF4 TTLL10 TTLL10-AS1 MIR6727 ATAD3C B3GALT6 FNDC10 TMEM240 MMP23B LINC01342 LOC102724312 ATAD3A AURKAIP1
esv2758912	Chr.1:1263940 - 1384492 on Build GRCh38	Loss	CPTP SCNN1D MIR6808 TAS1R3 PUSL1 ACAP3 MXRA8 DVL1 MIR6727 MIR6726 UBE2J2 CPSF3L AURKAIP1
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	TNFRSF18 RNF223 TNFRSF4 PUSL1 C1orf159 PERM1 CCNL2 FAM132A LOC105378948 MIR200A DVL1 PLEKHN1 ANKRD65 TMEM88B MIR200B MIR6726 UBE2J2 MIR429 CPSF3L LOC107985728 CPTP SCNN1D MIR6808 LOC100130417 HES4 KLHL17 LOC100288175 SAMD11 ISG15 TAS1R3 MRPL20 NOC2L LOC148413 ACAP3 MXRA8 SDF4 TTLL10 LOC284600 TTLL10-AS1 MIR6727 B3GALT6 LINC01342 AGRN AURKAIP1
nsv469848	Chr.1:1146082 - 1322235 on Build GRCh38	Gain	SCNN1D TNFRSF18 TNFRSF4 PUSL1 ACAP3 FAM132A SDF4 TTLL10 TTLL10-AS1 MIR200A MIR6727 B3GALT6 MIR200B MIR6726 UBE2J2 MIR429 CPSF3L

More Information

Additional Information:

For this assay, SNP(s) [rs112466538] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA processing factor

Gene Ontology Categories:

Process(es)

snRNA processing
snRNA transcription from RNA polymerase II promoter

Function(s)

protein binding
hydrolase activity