Hs00229578_cn

• Gene Symbol: PUSL1
• Assay Reference Genome Location: Chr.1:1311420 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: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PUSL1	NM_153339.1	8	983	NP_699170.1
	AK027721.1	4	1828
	AK075292.1	8	1000	BAC11527.1
	AK298218.1	7	893
	BC034304.1	8	983	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	LOC284600 DVL1 CDK11A CCNL2 CPSF3L TTLL10 RNF223 MIB2 LOC100129534 LOC100134822 WASH7P SLC35E2 SLC35E2B PUSL1 LOC102725121 LOC105378592 LOC105378948 FAM41C LINC01128 GNB1 C1orf159 ATAD3B OR4F16 CPTP LOC105378949 MIR6808 FAM132A FAM87B LOC107984841 ACAP3 LOC105378591 MRPL20 LOC105378589 SSU72 MTND1P23 HES4 OR4F29 TNFRSF18 MIR6726 SKI LINC00115 TMEM52 ATAD3A MIR200A MIR1302-2 TAS1R3 TTLL10-AS1 MMP23A PERM1 TNFRSF4 MIR6859-1 LOC102724312 LOC100506504 MTND2P28 NOC2L TMEM88B MIR200B LINC01342 OR4F5 AURKAIP1 MMP23B PRKCZ MIR6859-2 LOC729737 FAAP20 MIR6727 MIR429 LOC105378947 B3GALT6 CALML6 SAMD11 UBE2J2 NADK LOC100130417 FNDC10 LOC101928626 FAM138A PLEKHN1 LOC148413 SDF4 MIR6723 LOC100132287 AGRN VWA1 SCNN1D DDX11L1 LOC100288175 TMEM240 KLHL17 ISG15 LOC100287934 ATAD3C CDK11B MXRA8 LOC107985729 LOC100133331 MORN1 GABRD LOC107985728 CFAP74 ANKRD65 LOC100288069
nsv544971	Chr.1:1294063 - 1351426 on Build GRCh38	Loss	MIR6727 CPTP MIR6808 ACAP3 DVL1 TAS1R3 PUSL1 CPSF3L MIR6726
nsv544969	Chr.1:1290683 - 1374597 on Build GRCh38	Loss	MIR6727 CPTP MIR6808 ACAP3 AURKAIP1 SCNN1D DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L MIR6726
nsv997291	Chr.1:1306835 - 1376336 on Build GRCh38	Gain	MIR6727 CPTP MIR6808 ACAP3 AURKAIP1 DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L
nsv470680	Chr.1:1070426 - 1378635 on Build GRCh38	Loss	UBE2J2 C1orf159 CPTP MIR6808 DVL1 TNFRSF4 FAM132A SDF4 CPSF3L TTLL10 ACAP3 SCNN1D RNF223 MIR200B LINC01342 AURKAIP1 PUSL1 MXRA8 TNFRSF18 MIR6726 MIR6727 MIR429 MIR200A TAS1R3 B3GALT6 TTLL10-AS1
dgv6n100	Chr.1:1301750 - 1362354 on Build GRCh38	Gain+Loss	MIR6727 CPTP MIR6808 ACAP3 DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L
nsv1160788	Chr.1:1282706 - 1376336 on Build GRCh38	Deletion	MIR6727 CPTP MIR6808 ACAP3 AURKAIP1 SCNN1D DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L MIR6726
nsv1160772	Chr.1:1027585 - 1333467 on Build GRCh38	Duplication	UBE2J2 C1orf159 CPTP TNFRSF4 FAM132A SDF4 CPSF3L TTLL10 AGRN ACAP3 SCNN1D LOC100288175 RNF223 MIR200B LINC01342 PUSL1 TNFRSF18 MIR6726 MIR6727 MIR429 MIR200A LOC105378948 TAS1R3 B3GALT6 TTLL10-AS1
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	MMP23A LOC284600 DVL1 CDK11A PERM1 CCNL2 TNFRSF4 LOC102724312 CPSF3L TTLL10 NOC2L TMEM88B RNF223 MIR200B LINC01342 MIB2 AURKAIP1 MMP23B SLC35E2 SLC35E2B PUSL1 MIR6727 MIR429 LOC105378948 FAM41C B3GALT6 LINC01128 SAMD11 UBE2J2 NADK C1orf159 LOC100130417 ATAD3B FNDC10 CPTP MIR6808 PLEKHN1 LOC148413 FAM132A SDF4 FAM87B AGRN ACAP3 VWA1 SCNN1D MRPL20 LOC100288175 TMEM240 KLHL17 SSU72 ISG15 LOC100287934 HES4 ATAD3C CDK11B MXRA8 TNFRSF18 LOC107985729 MIR6726 LINC00115 ATAD3A MIR200A LOC107985728 TAS1R3 ANKRD65 TTLL10-AS1 LOC100288069
esv3890636	Chr.1:1304555 - 1353203 on Build GRCh38	Loss	MIR6727 CPTP MIR6808 ACAP3 DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L
nsv1000169	Chr.1:1281678 - 1362354 on Build GRCh38	Gain	MIR6727 CPTP MIR6808 ACAP3 SCNN1D DVL1 TAS1R3 PUSL1 MXRA8 CPSF3L MIR6726
nsv950452	Chr.1:1106921 - 1637538 on Build GRCh38	Deletion	UBE2J2 C1orf159 ATAD3B FNDC10 CPTP MIR6808 DVL1 CCNL2 TNFRSF4 LOC148413 FAM132A SDF4 LOC102724312 CPSF3L TTLL10 ACAP3 VWA1 SCNN1D MRPL20 TMEM88B TMEM240 MIR200B LINC01342 MIB2 SSU72 AURKAIP1 MMP23B ATAD3C CDK11B PUSL1 MXRA8 TNFRSF18 LOC107985729 MIR6726 MIR6727 MIR429 ATAD3A MIR200A TAS1R3 B3GALT6 ANKRD65 TTLL10-AS1
esv2758912	Chr.1:1263940 - 1384492 on Build GRCh38	Loss	UBE2J2 CPTP MIR6808 AURKAIP1 DVL1 PUSL1 MXRA8 CPSF3L MIR6726 MIR6727 ACAP3 SCNN1D TAS1R3
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	SAMD11 UBE2J2 LOC284600 C1orf159 LOC100130417 CPTP MIR6808 DVL1 PERM1 PLEKHN1 CCNL2 TNFRSF4 LOC148413 FAM132A SDF4 CPSF3L TTLL10 AGRN ACAP3 SCNN1D MRPL20 NOC2L LOC100288175 TMEM88B KLHL17 RNF223 MIR200B LINC01342 ISG15 HES4 AURKAIP1 PUSL1 MXRA8 TNFRSF18 MIR6726 MIR6727 MIR429 MIR200A LOC107985728 LOC105378948 TAS1R3 B3GALT6 ANKRD65 TTLL10-AS1
nsv469848	Chr.1:1146082 - 1322235 on Build GRCh38	Gain	UBE2J2 TNFRSF4 PUSL1 FAM132A SDF4 TNFRSF18 CPSF3L MIR6726 MIR6727 MIR429 TTLL10 MIR200A ACAP3 SCNN1D B3GALT6 TTLL10-AS1 MIR200B

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Process(es)

pseudouridine synthesis
tRNA processing

Function(s)

RNA binding
pseudouridine synthase activity