Hs00652844_cn

• Gene Symbol: PUSL1
• Assay Reference Genome Location: Chr.1:1309473 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 3 - Exon 4

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