Hs02263042_cn

• Gene Symbol: PUSL1
• Assay Reference Genome Location: Chr.1:1310662 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 Intron 5 - Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUSL1	NM_153339.1			NP_699170.1
	XM_005244720.3			XP_005244777.1
	AK027721.1	3	1328
	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	WASH7P SLC35E2 MIR429 NOC2L LINC00115 CDK11B FAM132A AURKAIP1 ISG15 MIR200B LOC100288175 ATAD3A TMEM88B LOC100132287 LOC105378589 CPSF3L ACAP3 SDF4 PRKCZ RNF223 OR4F5 LOC284600 LOC100134822 VWA1 MIR6723 LOC100130417 LOC105378948 DVL1 TMEM52 TNFRSF18 LOC105378591 MIR6859-2 MIR200A TAS1R3 LOC107984841 FAM138A B3GALT6 TTLL10-AS1 ATAD3C MIB2 MIR6808 MIR6726 SSU72 MIR6859-1 ANKRD65 PUSL1 HES4 LOC148413 LOC102724312 CDK11A FAM87B TMEM240 LOC100288069 CPTP TNFRSF4 LOC107985728 LOC102725121 UBE2J2 LOC101928626 C1orf159 PLEKHN1 LOC105378947 OR4F16 DDX11L1 SLC35E2B LOC100129534 NADK CFAP74 CALML6 GNB1 LOC105378592 MIR1302-2 PERM1 MORN1 LINC01342 MTND2P28 TTLL10 MRPL20 MMP23B SKI KLHL17 FNDC10 ATAD3B LOC107985729 LINC01128 GABRD LOC729737 SAMD11 SCNN1D LOC100506504 MXRA8 LOC100133331 LOC100287934 CCNL2 FAM41C AGRN MMP23A MTND1P23 LOC105378949 MIR6727 OR4F29 FAAP20
nsv544971	Chr.1:1294063 - 1351426 on Build GRCh38	Loss	DVL1 CPTP PUSL1 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808 MIR6726
nsv544969	Chr.1:1290683 - 1374597 on Build GRCh38	Loss	DVL1 AURKAIP1 CPTP SCNN1D PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808 MIR6726
nsv997291	Chr.1:1306835 - 1376336 on Build GRCh38	Gain	DVL1 AURKAIP1 CPTP PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808
nsv470680	Chr.1:1070426 - 1378635 on Build GRCh38	Loss	DVL1 CPTP TNFRSF4 UBE2J2 MIR429 TNFRSF18 MIR200A TAS1R3 FAM132A C1orf159 B3GALT6 AURKAIP1 TTLL10-AS1 MIR200B MIR6808 MIR6726 SCNN1D PUSL1 MXRA8 CPSF3L ACAP3 SDF4 RNF223 LINC01342 MIR6727 TTLL10
dgv6n100	Chr.1:1301750 - 1362354 on Build GRCh38	Gain+Loss	DVL1 CPTP PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808
nsv1160788	Chr.1:1282706 - 1376336 on Build GRCh38	Deletion	DVL1 AURKAIP1 CPTP SCNN1D PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808 MIR6726
nsv1160772	Chr.1:1027585 - 1333467 on Build GRCh38	Duplication	LOC105378948 CPTP TNFRSF4 UBE2J2 MIR429 TNFRSF18 MIR200A TAS1R3 FAM132A C1orf159 B3GALT6 TTLL10-AS1 MIR200B LOC100288175 MIR6726 SCNN1D PUSL1 CPSF3L ACAP3 SDF4 RNF223 AGRN LINC01342 MIR6727 TTLL10
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	CPTP TNFRSF4 LOC107985728 UBE2J2 SLC35E2 MIR429 NOC2L LINC00115 CDK11B FAM132A C1orf159 PLEKHN1 AURKAIP1 ISG15 MIR200B SLC35E2B LOC100288175 ATAD3A NADK TMEM88B CPSF3L ACAP3 SDF4 RNF223 PERM1 LOC284600 LINC01342 VWA1 TTLL10 LOC100130417 MRPL20 MMP23B LOC105378948 DVL1 KLHL17 TNFRSF18 FNDC10 MIR200A TAS1R3 ATAD3B B3GALT6 LOC107985729 TTLL10-AS1 LINC01128 ATAD3C MIB2 MIR6808 MIR6726 SAMD11 SSU72 SCNN1D ANKRD65 PUSL1 HES4 MXRA8 LOC148413 LOC102724312 CDK11A LOC100287934 CCNL2 FAM87B FAM41C AGRN MMP23A TMEM240 MIR6727 LOC100288069
esv3890636	Chr.1:1304555 - 1353203 on Build GRCh38	Loss	DVL1 CPTP PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808
nsv1000169	Chr.1:1281678 - 1362354 on Build GRCh38	Gain	DVL1 CPTP SCNN1D PUSL1 MXRA8 MIR6727 CPSF3L ACAP3 TAS1R3 MIR6808 MIR6726
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	DVL1 CPTP TNFRSF4 UBE2J2 MIR429 TNFRSF18 CDK11B FNDC10 MIR200A TAS1R3 FAM132A C1orf159 ATAD3B B3GALT6 AURKAIP1 LOC107985729 TTLL10-AS1 MIR200B ATAD3C MIB2 MIR6808 ATAD3A MIR6726 SSU72 SCNN1D TMEM88B ANKRD65 PUSL1 MXRA8 LOC148413 CPSF3L ACAP3 SDF4 LOC102724312 CCNL2 LINC01342 VWA1 TMEM240 MIR6727 TTLL10 MRPL20 MMP23B
esv2758912	Chr.1:1263940 - 1384492 on Build GRCh38	Loss	DVL1 CPTP SCNN1D UBE2J2 PUSL1 MXRA8 CPSF3L ACAP3 TAS1R3 AURKAIP1 MIR6727 MIR6808 MIR6726
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	LOC105378948 DVL1 CPTP TNFRSF4 LOC107985728 UBE2J2 MIR429 NOC2L KLHL17 TNFRSF18 MIR200A TAS1R3 FAM132A C1orf159 PLEKHN1 B3GALT6 AURKAIP1 ISG15 TTLL10-AS1 MIR200B LOC100288175 MIR6808 MIR6726 SAMD11 SCNN1D TMEM88B ANKRD65 PUSL1 HES4 MXRA8 LOC148413 CPSF3L ACAP3 SDF4 CCNL2 RNF223 AGRN PERM1 LOC284600 LINC01342 MIR6727 TTLL10 LOC100130417 MRPL20
nsv469848	Chr.1:1146082 - 1322235 on Build GRCh38	Gain	TNFRSF4 SCNN1D UBE2J2 MIR429 PUSL1 TNFRSF18 MIR200A CPSF3L ACAP3 SDF4 FAM132A B3GALT6 TTLL10-AS1 MIR200B MIR6727 TTLL10 MIR6726

More Information

• Set Membership: Intragenic, Intronic, 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