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Gene Symbol
PUSL1
Assay Reference Genome
Location

Chr.1:1311061 on build GRCh38
Cytoband
1p36.33
Assay ID Hs01420732_cn
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Catalog # 4400291
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Assay Details

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

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More Information


Additional Information:

For this assay, SNP(s) [rs115163464] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Function(s) Process(es)


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