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Gene Symbol
PUSL1
Assay Reference Genome
Location

Chr.1:1309127 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03369061_cn
Size
Availability Made To Order
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:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PUSL1 NM_153339.1 3 207 NP_699170.1
XM_005244720.3 3 259 XP_005244777.1
AK075292.1 3 224 BAC11527.1
AK298218.1 2 117
BC034304.1 3 207 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 UBE2J2 LOC100288069 CPTP SAMD11 TAS1R3 MTND1P23 TMEM240 SKI SDF4 LINC00115 TMEM88B LOC100129534 TNFRSF4 PLEKHN1 C1orf159 GNB1 CCNL2 CPSF3L B3GALT6 ISG15 LOC100506504 PRKCZ LOC100130417 LOC101928626 MIR6808 SSU72 FAM132A AGRN CALML6 FAM87B RNF223 ATAD3B LOC107985728 SLC35E2B FAM41C LOC107985729 LINC01128 NOC2L VWA1 CDK11A DDX11L1 SCNN1D MIR6727 LOC105378948 WASH7P MIR200A MXRA8 LOC100134822 LOC100133331 OR4F29 LINC01342 PUSL1 MRPL20 NADK PERM1 FNDC10 MIR429 KLHL17 LOC105378592 ATAD3C FAAP20 LOC100288175 GABRD TNFRSF18 MIR6726 TTLL10 ANKRD65 LOC105378591 MTND2P28 TMEM52 LOC100132287 MMP23B MIB2 OR4F5 MIR6859-1 MIR1302-2 MIR200B MORN1 LOC105378589 LOC105378947 AURKAIP1 ACAP3 LOC102724312 TTLL10-AS1 MIR6859-2 MIR6723 MMP23A HES4 LOC105378949 LOC102725121 SLC35E2 FAM138A CDK11B LOC729737 ATAD3A CFAP74 DVL1 LOC284600 LOC100287934 LOC148413 OR4F16 LOC107984841
nsv544971 Chr.1:1294063 - 1351426 on Build GRCh38 Loss CPSF3L CPTP TAS1R3 PUSL1 MIR6727 MIR6726 DVL1 ACAP3 MIR6808
nsv544969 Chr.1:1290683 - 1374597 on Build GRCh38 Loss SCNN1D MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 MIR6726 AURKAIP1 DVL1 ACAP3 MIR6808
dgv7n100 Chr.1:1306835 - 1379057 on Build GRCh38 Loss MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 AURKAIP1 DVL1 ACAP3 MIR6808
nsv470680 Chr.1:1070426 - 1378635 on Build GRCh38 Loss UBE2J2 CPTP TAS1R3 AURKAIP1 MIR429 ACAP3 TTLL10-AS1 SDF4 TNFRSF4 SCNN1D C1orf159 MIR6727 TNFRSF18 MIR6726 TTLL10 MIR200A MXRA8 CPSF3L B3GALT6 DVL1 MIR6808 FAM132A LINC01342 RNF223 MIR200B PUSL1
dgv6n100 Chr.1:1301750 - 1362354 on Build GRCh38 Gain+Loss MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 DVL1 ACAP3 MIR6808
nsv1160772 Chr.1:1027585 - 1333467 on Build GRCh38 Duplication UBE2J2 CPTP TAS1R3 MIR429 ACAP3 TTLL10-AS1 SDF4 TNFRSF4 SCNN1D LOC100288175 C1orf159 MIR6727 LOC105378948 TNFRSF18 MIR6726 TTLL10 MIR200A CPSF3L B3GALT6 FAM132A AGRN LINC01342 RNF223 MIR200B PUSL1
nsv1160788 Chr.1:1282706 - 1376336 on Build GRCh38 Deletion SCNN1D MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 MIR6726 AURKAIP1 DVL1 ACAP3 MIR6808
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss NADK UBE2J2 LOC100288069 PERM1 CPTP SAMD11 TAS1R3 FNDC10 MIR429 TMEM240 KLHL17 SDF4 LINC00115 TMEM88B ATAD3C TNFRSF4 LOC100288175 PLEKHN1 C1orf159 TNFRSF18 MIR6726 TTLL10 ANKRD65 CCNL2 CPSF3L B3GALT6 ISG15 MMP23B LOC100130417 MIB2 MIR6808 SSU72 FAM132A AGRN FAM87B RNF223 MIR200B ATAD3B LOC107985728 SLC35E2B FAM41C LOC107985729 LINC01128 NOC2L AURKAIP1 ACAP3 LOC102724312 TTLL10-AS1 VWA1 CDK11A SCNN1D MIR6727 LOC105378948 MMP23A HES4 MIR200A SLC35E2 CDK11B MXRA8 ATAD3A DVL1 LOC284600 LINC01342 LOC100287934 LOC148413 PUSL1 MRPL20
esv3890636 Chr.1:1304555 - 1353203 on Build GRCh38 Loss MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 DVL1 ACAP3 MIR6808
nsv950452 Chr.1:1106921 - 1637538 on Build GRCh38 Deletion UBE2J2 CPTP TAS1R3 FNDC10 AURKAIP1 MIR429 ACAP3 TMEM240 LOC102724312 TTLL10-AS1 SDF4 TMEM88B VWA1 ATAD3C TNFRSF4 SCNN1D C1orf159 MIR6727 TNFRSF18 MIR6726 TTLL10 ANKRD65 MIR200A CDK11B CCNL2 MXRA8 CPSF3L B3GALT6 ATAD3A DVL1 MMP23B MIB2 MIR6808 SSU72 FAM132A LINC01342 MIR200B ATAD3B LOC148413 PUSL1 MRPL20 LOC107985729
nsv1000169 Chr.1:1281678 - 1362354 on Build GRCh38 Gain SCNN1D MXRA8 CPSF3L CPTP TAS1R3 PUSL1 MIR6727 MIR6726 DVL1 ACAP3 MIR6808
esv2758912 Chr.1:1263940 - 1384492 on Build GRCh38 Loss UBE2J2 MXRA8 CPSF3L CPTP TAS1R3 AURKAIP1 DVL1 ACAP3 MIR6808 SCNN1D PUSL1 MIR6727 MIR6726
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain UBE2J2 PERM1 CPTP SAMD11 TAS1R3 NOC2L AURKAIP1 MIR429 ACAP3 KLHL17 TTLL10-AS1 SDF4 TMEM88B TNFRSF4 SCNN1D LOC100288175 PLEKHN1 C1orf159 MIR6727 LOC105378948 TNFRSF18 MIR6726 TTLL10 HES4 ANKRD65 MIR200A CCNL2 MXRA8 CPSF3L B3GALT6 ISG15 DVL1 LOC100130417 MIR6808 LOC284600 FAM132A AGRN LINC01342 RNF223 MIR200B LOC148413 PUSL1 LOC107985728 MRPL20
nsv469848 Chr.1:1146082 - 1322235 on Build GRCh38 Gain UBE2J2 CPSF3L B3GALT6 MIR429 ACAP3 FAM132A TTLL10-AS1 SDF4 TNFRSF4 SCNN1D MIR200B PUSL1 MIR6727 TNFRSF18 MIR6726 TTLL10 MIR200A

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Molecular Function -

lyase

Gene Ontology Categories:

Function(s) Process(es)


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