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

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