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

Chr.1:980198 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03385118_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 2 903 NP_001278295.1
NM_001291367.1 3 550 NP_001278296.1
XM_017002583.1 2 1005 XP_016858072.1
XM_017002584.1 2 1028 XP_016858073.1
XM_017002585.1 1 1460 XP_016858074.1
AK123855.1 3 526 BAC85711.1
KF150175.1 2 903

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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