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	LOC100506504 AGRN LOC100134822 LOC105378589 B3GALT6 TTLL10 FAM138A MTND2P28 AURKAIP1 MMP23B LOC107984841 MIR200A WASH7P MIR6723 TMEM88B KLHL17 LOC148413 MIB2 TAS1R3 LOC100132287 MIR1302-2 LOC729737 ATAD3B SKI LOC105378591 TNFRSF18 TNFRSF4 MXRA8 LINC01342 MMP23A PLEKHN1 OR4F16 FAM87B CCNL2 C1orf159 DDX11L1 LOC100287934 CPTP FAAP20 GNB1 FAM41C ISG15 ANKRD65 LOC105378948 NADK ACAP3 LOC101928626 RNF223 LOC105378592 LOC105378947 FNDC10 SLC35E2B PERM1 ATAD3C SDF4 SCNN1D FAM132A PRKCZ LOC100288175 MIR200B LOC107985729 OR4F29 LOC284600 MTND1P23 MIR6808 TMEM240 MIR6859-2 TTLL10-AS1 CFAP74 LINC00115 DVL1 HES4 MRPL20 NOC2L MIR429 CALML6 OR4F5 LOC102725121 ATAD3A PUSL1 SAMD11 LOC100130417 LOC107985728 MORN1 LOC100129534 CDK11B CDK11A LOC102724312 GABRD UBE2J2 LINC01128 CPSF3L VWA1 MIR6726 LOC100288069 MIR6859-1 LOC105378949 SLC35E2 TMEM52 MIR6727 SSU72 LOC100133331
nsv544971	Chr.1:1294063 - 1351426 on Build GRCh38	Loss	TAS1R3 CPSF3L ACAP3 MIR6726 PUSL1 DVL1 MIR6727 CPTP MIR6808
nsv544969	Chr.1:1290683 - 1374597 on Build GRCh38	Loss	AURKAIP1 TAS1R3 CPSF3L ACAP3 MIR6726 MXRA8 PUSL1 DVL1 MIR6727 SCNN1D CPTP MIR6808
dgv7n100	Chr.1:1306835 - 1379057 on Build GRCh38	Loss	AURKAIP1 TAS1R3 CPSF3L ACAP3 MXRA8 PUSL1 DVL1 MIR6727 CPTP MIR6808
nsv470680	Chr.1:1070426 - 1378635 on Build GRCh38	Loss	TAS1R3 DVL1 MIR429 B3GALT6 ACAP3 PUSL1 RNF223 TTLL10 TNFRSF18 AURKAIP1 UBE2J2 CPSF3L MIR6726 TNFRSF4 MXRA8 LINC01342 SDF4 MIR200A SCNN1D FAM132A MIR200B C1orf159 MIR6727 CPTP MIR6808 TTLL10-AS1
dgv6n100	Chr.1:1301750 - 1362354 on Build GRCh38	Gain+Loss	TAS1R3 CPSF3L ACAP3 MXRA8 PUSL1 DVL1 MIR6727 CPTP MIR6808
esv3584992	Chr.1:1314419 - 1330342 on Build GRCh38	Gain	CPSF3L CPTP
nsv1160772	Chr.1:1027585 - 1333467 on Build GRCh38	Duplication	TAS1R3 MIR429 AGRN B3GALT6 LOC105378948 ACAP3 PUSL1 RNF223 TTLL10 TNFRSF18 UBE2J2 CPSF3L MIR6726 TNFRSF4 LINC01342 SDF4 MIR200A SCNN1D FAM132A LOC100288175 MIR200B C1orf159 MIR6727 CPTP TTLL10-AS1
nsv1160788	Chr.1:1282706 - 1376336 on Build GRCh38	Deletion	AURKAIP1 TAS1R3 CPSF3L ACAP3 MIR6726 MXRA8 PUSL1 DVL1 MIR6727 SCNN1D CPTP MIR6808
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	FAM41C AGRN ISG15 ANKRD65 B3GALT6 LOC105378948 NADK ACAP3 RNF223 TTLL10 FNDC10 AURKAIP1 MMP23B SLC35E2B PERM1 ATAD3C SDF4 MIR200A SCNN1D FAM132A TMEM88B LOC100288175 KLHL17 MIR200B LOC107985729 LOC148413 LOC284600 MIB2 MIR6808 TMEM240 TTLL10-AS1 TAS1R3 LINC00115 DVL1 HES4 MRPL20 NOC2L MIR429 ATAD3A ATAD3B PUSL1 SAMD11 LOC100130417 LOC107985728 CDK11B CDK11A TNFRSF18 LOC102724312 UBE2J2 LINC01128 CPSF3L VWA1 MIR6726 TNFRSF4 MXRA8 LOC100288069 LINC01342 MMP23A PLEKHN1 SLC35E2 FAM87B CCNL2 C1orf159 MIR6727 LOC100287934 SSU72 CPTP
esv3890636	Chr.1:1304555 - 1353203 on Build GRCh38	Loss	TAS1R3 CPSF3L ACAP3 MXRA8 PUSL1 DVL1 MIR6727 CPTP MIR6808
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	TAS1R3 DVL1 MRPL20 MIR429 ATAD3A ATAD3B ANKRD65 B3GALT6 ACAP3 PUSL1 TTLL10 CDK11B TNFRSF18 LOC102724312 FNDC10 AURKAIP1 UBE2J2 MMP23B CPSF3L VWA1 MIR6726 TNFRSF4 MXRA8 LINC01342 ATAD3C SDF4 MIR200A SCNN1D FAM132A TMEM88B MIR200B CCNL2 LOC107985729 LOC148413 C1orf159 MIR6727 MIB2 SSU72 CPTP MIR6808 TMEM240 TTLL10-AS1
nsv1000169	Chr.1:1281678 - 1362354 on Build GRCh38	Gain	TAS1R3 CPSF3L ACAP3 MIR6726 MXRA8 PUSL1 DVL1 MIR6727 SCNN1D CPTP MIR6808
esv2758912	Chr.1:1263940 - 1384492 on Build GRCh38	Loss	AURKAIP1 TAS1R3 UBE2J2 CPSF3L MIR6726 MXRA8 DVL1 SCNN1D ACAP3 PUSL1 MIR6727 CPTP MIR6808
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	TAS1R3 DVL1 HES4 MRPL20 NOC2L MIR429 AGRN ISG15 ANKRD65 B3GALT6 LOC105378948 ACAP3 PUSL1 SAMD11 LOC100130417 LOC107985728 RNF223 TTLL10 TNFRSF18 AURKAIP1 UBE2J2 CPSF3L PERM1 MIR6726 TNFRSF4 MXRA8 LINC01342 SDF4 MIR200A PLEKHN1 SCNN1D FAM132A TMEM88B LOC100288175 KLHL17 MIR200B CCNL2 LOC148413 C1orf159 LOC284600 MIR6727 CPTP MIR6808 TTLL10-AS1
nsv469848	Chr.1:1146082 - 1322235 on Build GRCh38	Gain	UBE2J2 CPSF3L MIR6726 TNFRSF4 SDF4 MIR200A MIR429 SCNN1D FAM132A MIR200B B3GALT6 ACAP3 PUSL1 MIR6727 TTLL10 TNFRSF18 TTLL10-AS1

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