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See other PERM1 CNV Assays ›
Gene Symbol
PERM1
Assay Reference Genome
Location

Chr.1:979773 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03371096_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 84808

Gene Name:

 PPARGC1 and ESRR induced regulator, muscle 1

Gene Aliases:

 C1orf170

Location:

 Chr.1:975198-982117 on Build GRCh38

Assay Gene Location:

 Within Exon 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PERM1 NM_001291366.1 2 1328 NP_001278295.1
NM_001291367.1 3 975 NP_001278296.1
XM_017002583.1 2 1430 XP_016858072.1
XM_017002584.1 2 1453 XP_016858073.1
XM_017002585.1 1 1885 XP_016858074.1
AK123855.1 3 951 BAC85711.1
KF150175.1 2 1328

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2762302 Chr.1:914637 - 1106320 on Build GRCh38 Gain LOC100288175 LOC107985728 AGRN SAMD11 KLHL17 NOC2L PLEKHN1 HES4 RNF223 LOC284600 PERM1 ISG15 LOC105378948 LOC100130417 C1orf159
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss LOC102725121 MTND1P23 MMP23B MIR200A CCNL2 B3GALT6 MIR6726 MORN1 UBE2J2 LOC105378948 LOC100133331 FAM87B KLHL17 HES4 LOC284600 SLC35E2 TMEM88B CFAP74 MMP23A CDK11A MIR1302-2 TTLL10-AS1 LOC102724312 LOC107985729 LOC100506504 ATAD3C PLEKHN1 MIR6859-2 GABRD MIR6723 LOC100130417 PRKCZ OR4F29 AURKAIP1 LOC100134822 SDF4 TNFRSF18 MIR6859-1 LOC107985728 DVL1 LOC105378949 RNF223 DDX11L1 CPSF3L LINC01342 LOC100288069 PERM1 LOC105378947 LOC100132287 MIR200B C1orf159 TMEM52 FAM41C LOC100129534 PUSL1 FAAP20 FAM138A MRPL20 LOC100287934 SSU72 ATAD3A CALML6 LOC107984841 MIR6727 CDK11B AGRN LINC00115 LOC101928626 OR4F5 NADK MXRA8 VWA1 SCNN1D CPTP SLC35E2B LOC100288175 MIR6808 ANKRD65 LOC148413 LOC105378591 SKI SAMD11 MTND2P28 MIB2 LOC105378589 ATAD3B LOC105378592 FAM132A WASH7P ACAP3 GNB1 MIR429 FNDC10 NOC2L LINC01128 TNFRSF4 TAS1R3 TTLL10 OR4F16 TMEM240 ISG15 LOC729737
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion LOC100288175 LOC107985728 AGRN SAMD11 KLHL17 NOC2L PLEKHN1 HES4 RNF223 LOC284600 PERM1 ISG15 LOC105378948 LOC100130417 C1orf159
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion PERM1 LOC107985728 SAMD11 KLHL17 NOC2L PLEKHN1 LOC100130417 LOC284600
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain LOC100288175 TTLL10-AS1 FAM41C MIR200A SAMD11 PLEKHN1 LOC105378948 LOC100130417 SDF4 TNFRSF18 LOC107985728 AGRN MIR429 KLHL17 NOC2L HES4 RNF223 LOC284600 TNFRSF4 LINC01342 TTLL10 PERM1 ISG15 MIR200B C1orf159
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss FAM41C MMP23B PUSL1 MIR200A CCNL2 MRPL20 LOC100287934 B3GALT6 MIR6726 SSU72 ATAD3A UBE2J2 LOC105378948 MIR6727 CDK11B AGRN FAM87B LINC00115 KLHL17 HES4 LOC284600 SLC35E2 NADK MXRA8 VWA1 TMEM88B MMP23A SCNN1D CPTP SLC35E2B CDK11A LOC100288175 MIR6808 TTLL10-AS1 ANKRD65 LOC148413 LOC102724312 LOC107985729 ATAD3C SAMD11 PLEKHN1 MIB2 ATAD3B FAM132A LOC100130417 ACAP3 AURKAIP1 SDF4 TNFRSF18 LOC107985728 MIR429 DVL1 FNDC10 NOC2L RNF223 LINC01128 TNFRSF4 TAS1R3 CPSF3L LINC01342 TTLL10 TMEM240 LOC100288069 PERM1 ISG15 MIR200B C1orf159
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain MTND1P23 LOC100288175 FAM41C SAMD11 PLEKHN1 MTND2P28 LOC100287934 LOC105378948 MIR6723 LOC100130417 LOC100133331 LOC107984841 LOC107985728 AGRN FAM87B LINC00115 KLHL17 NOC2L HES4 RNF223 LINC01128 LOC284600 OR4F16 LOC101928626 LOC100288069 PERM1 LOC105378947 ISG15 C1orf159
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss LOC100288175 TTLL10-AS1 FAM41C MIR200A SAMD11 PLEKHN1 B3GALT6 FAM132A UBE2J2 LOC105378948 LOC100130417 SDF4 TNFRSF18 LOC107985728 AGRN FAM87B LINC00115 MIR429 KLHL17 NOC2L HES4 RNF223 LINC01128 LOC284600 TNFRSF4 LINC01342 TTLL10 PERM1 ISG15 MIR200B C1orf159
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain LOC100288175 AGRN SAMD11 KLHL17 NOC2L PLEKHN1 HES4 RNF223 LINC01342 PERM1 ISG15 LOC105378948 C1orf159
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion LOC100288175 TTLL10-AS1 SDF4 TNFRSF18 AGRN MIR429 MIR200A SAMD11 KLHL17 NOC2L PLEKHN1 HES4 RNF223 TNFRSF4 LINC01342 TTLL10 PERM1 ISG15 LOC105378948 MIR200B C1orf159
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss PERM1 LOC107985728 AGRN ISG15 SAMD11 KLHL17 NOC2L PLEKHN1 HES4 LOC100130417 LOC284600
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain LOC100288175 MIR6808 TTLL10-AS1 ANKRD65 LOC148413 PUSL1 MIR200A SAMD11 PLEKHN1 CCNL2 MRPL20 B3GALT6 MIR6726 FAM132A UBE2J2 LOC105378948 LOC100130417 ACAP3 AURKAIP1 SDF4 TNFRSF18 MIR6727 LOC107985728 AGRN MIR429 DVL1 KLHL17 NOC2L HES4 RNF223 LOC284600 TNFRSF4 TAS1R3 CPSF3L LINC01342 TTLL10 PERM1 MXRA8 ISG15 TMEM88B SCNN1D MIR200B CPTP C1orf159
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain FAM41C PERM1 LOC107985728 SAMD11 KLHL17 NOC2L PLEKHN1 HES4 LOC100130417 LINC01128 LOC284600

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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