Hs03041224_cn

• Gene Symbol: PUSL1
• Assay Reference Genome Location: Chr.1:1308713 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 126789
• Gene Name: pseudouridylate synthase-like 1
• Gene Aliases: -
• Location: Chr.1:1308562-1311677 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUSL1	NM_153339.1			NP_699170.1
	XM_005244720.3			XP_005244777.1
	AK075292.1			BAC11527.1
	AK298218.1
	BC034304.1			AAH34304.1

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

More Information

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

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

pseudouridine synthesis
tRNA processing

Function(s)

RNA binding
pseudouridine synthase activity