Hs03381700_cn

• Gene Symbol: CPSF3L
• Assay Reference Genome Location: Chr.1:1318810 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
	AK022675.1	2	2315
	AK023356.1			BAB14541.1
	AK027767.1	3	1444
	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
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	LOC105378948 PLEKHN1 LOC102724312 MIR200B LOC105378947 MRPL20 LOC101928626 TTLL10 OR4F29 FAM41C FNDC10 SCNN1D OR4F16 LOC100130417 MIR6723 LINC01128 WASH7P LOC107984841 FAM138A MIR6859-1 CCNL2 LOC148413 PRKCZ GNB1 TMEM88B LOC107985728 LOC100288069 LOC102725121 MMP23B MIR6727 MTND1P23 LOC284600 DDX11L1 LOC100134822 LOC105378589 CDK11B LOC100506504 MIR1302-2 TTLL10-AS1 C1orf159 MIR6859-2 PERM1 B3GALT6 LOC100133331 SDF4 LOC105378592 AGRN VWA1 OR4F5 ATAD3A GABRD LOC107985729 MIR6726 NADK TNFRSF18 ATAD3B LOC100287934 SSU72 AURKAIP1 ACAP3 FAAP20 MTND2P28 CALML6 MIB2 LOC100288175 ANKRD65 TMEM52 SKI FAM87B SLC35E2B SLC35E2 TNFRSF4 LOC100129534 CPSF3L LOC100132287 UBE2J2 HES4 LOC729737 TAS1R3 PUSL1 SAMD11 LINC00115 ISG15 TMEM240 LOC105378949 DVL1 MORN1 MIR200A MIR429 LINC01342 CPTP LOC105378591 NOC2L KLHL17 MXRA8 ATAD3C FAM132A RNF223 CFAP74 MMP23A CDK11A MIR6808
nsv544971	Chr.1:1294063 - 1351426 on Build GRCh38	Loss	CPTP PUSL1 MIR6727 DVL1 CPSF3L MIR6808 TAS1R3 ACAP3 MIR6726
nsv544969	Chr.1:1290683 - 1374597 on Build GRCh38	Loss	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 SCNN1D AURKAIP1 TAS1R3 ACAP3 MIR6726
dgv7n100	Chr.1:1306835 - 1379057 on Build GRCh38	Loss	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 AURKAIP1 TAS1R3 ACAP3
nsv470680	Chr.1:1070426 - 1378635 on Build GRCh38	Loss	PUSL1 TNFRSF18 MIR6727 MIR200B AURKAIP1 ACAP3 TTLL10 DVL1 MIR200A MIR429 LINC01342 SCNN1D CPTP TTLL10-AS1 C1orf159 TNFRSF4 B3GALT6 CPSF3L MXRA8 UBE2J2 SDF4 FAM132A RNF223 MIR6808 TAS1R3 MIR6726
dgv6n100	Chr.1:1301750 - 1362354 on Build GRCh38	Gain+Loss	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 TAS1R3 ACAP3
esv3584992	Chr.1:1314419 - 1330342 on Build GRCh38	Gain	CPTP CPSF3L
nsv1160772	Chr.1:1027585 - 1333467 on Build GRCh38	Duplication	PUSL1 LOC105378948 TNFRSF18 MIR6727 MIR200B ACAP3 TTLL10 LOC100288175 MIR200A MIR429 LINC01342 SCNN1D CPTP TTLL10-AS1 C1orf159 TNFRSF4 B3GALT6 CPSF3L UBE2J2 SDF4 FAM132A RNF223 AGRN TAS1R3 MIR6726
nsv1160788	Chr.1:1282706 - 1376336 on Build GRCh38	Deletion	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 SCNN1D AURKAIP1 TAS1R3 ACAP3 MIR6726
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	NADK LOC105378948 TNFRSF18 PLEKHN1 LOC102724312 ATAD3B LOC100287934 MIR200B SSU72 MRPL20 AURKAIP1 ACAP3 MIB2 TTLL10 LOC100288175 FAM41C ANKRD65 FNDC10 SCNN1D LOC100130417 FAM87B SLC35E2B SLC35E2 TNFRSF4 LINC01128 CPSF3L UBE2J2 HES4 CCNL2 LOC148413 TMEM88B LOC107985728 LOC100288069 MMP23B TAS1R3 PUSL1 SAMD11 LINC00115 MIR6727 ISG15 LOC284600 TMEM240 CDK11B DVL1 MIR200A MIR429 LINC01342 CPTP TTLL10-AS1 NOC2L C1orf159 PERM1 B3GALT6 KLHL17 MXRA8 SDF4 ATAD3C FAM132A RNF223 AGRN VWA1 MMP23A CDK11A MIR6808 ATAD3A LOC107985729 MIR6726
esv3890636	Chr.1:1304555 - 1353203 on Build GRCh38	Loss	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 TAS1R3 ACAP3
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	PUSL1 TNFRSF18 LOC102724312 MIR6727 ATAD3B MIR200B SSU72 MRPL20 TMEM240 AURKAIP1 ACAP3 MIB2 CDK11B TTLL10 DVL1 MIR200A ANKRD65 MIR429 LINC01342 FNDC10 SCNN1D CPTP TTLL10-AS1 C1orf159 TNFRSF4 B3GALT6 CPSF3L MXRA8 UBE2J2 SDF4 ATAD3C FAM132A CCNL2 LOC148413 VWA1 TMEM88B MIR6808 ATAD3A MMP23B TAS1R3 LOC107985729 MIR6726
nsv1000169	Chr.1:1281678 - 1362354 on Build GRCh38	Gain	CPTP PUSL1 MIR6727 DVL1 CPSF3L MXRA8 MIR6808 SCNN1D TAS1R3 ACAP3 MIR6726
esv2758912	Chr.1:1263940 - 1384492 on Build GRCh38	Loss	CPTP PUSL1 MIR6727 CPSF3L MXRA8 UBE2J2 AURKAIP1 ACAP3 DVL1 MIR6808 SCNN1D TAS1R3 MIR6726
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	PUSL1 LOC105378948 TNFRSF18 PLEKHN1 SAMD11 MIR6727 ISG15 LOC284600 MIR200B MRPL20 AURKAIP1 ACAP3 TTLL10 DVL1 LOC100288175 MIR200A ANKRD65 MIR429 LINC01342 SCNN1D LOC100130417 CPTP TTLL10-AS1 NOC2L C1orf159 TNFRSF4 PERM1 B3GALT6 CPSF3L KLHL17 MXRA8 UBE2J2 SDF4 HES4 FAM132A RNF223 CCNL2 LOC148413 AGRN TMEM88B LOC107985728 MIR6808 TAS1R3 MIR6726
nsv469848	Chr.1:1146082 - 1322235 on Build GRCh38	Gain	PUSL1 TTLL10-AS1 TNFRSF18 MIR6727 TNFRSF4 B3GALT6 CPSF3L MIR200B UBE2J2 SDF4 FAM132A ACAP3 TTLL10 MIR200A MIR429 SCNN1D MIR6726

More Information

Additional Information:

For this assay, SNP(s) [rs76855900] 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