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

Chr.1:978249 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03375771_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 Intron 3
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PERM1 NM_001291366.1 NP_001278295.1
NM_001291367.1 NP_001278296.1
XM_017002583.1 XP_016858072.1
XM_017002584.1 XP_016858073.1
XM_017002585.1 XP_016858074.1
AK123855.1 BAC85711.1
KF150175.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1073996 Chr.1:976519 - 978220 on Build GRCh38 Deletion PERM1
esv2762302 Chr.1:914637 - 1106320 on Build GRCh38 Gain ISG15 NOC2L C1orf159 AGRN LOC107985728 LOC100130417 PLEKHN1 LOC105378948 SAMD11 RNF223 LOC284600 LOC100288175 KLHL17 HES4 PERM1
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss MMP23A DDX11L1 MIR6726 LOC107984841 LOC107985729 RNF223 LINC01128 FNDC10 OR4F16 ISG15 CALML6 LINC00115 PLEKHN1 LOC284600 LOC105378947 GNB1 LOC102725121 MIR6808 TNFRSF4 CCNL2 SKI CFAP74 AURKAIP1 MMP23B ACAP3 WASH7P C1orf159 TTLL10-AS1 LOC105378592 SDF4 FAM138A CDK11A PERM1 MXRA8 NADK AGRN TMEM88B MTND1P23 LOC107985728 SLC35E2 LOC105378948 LOC100129534 MIR6723 MIB2 MRPL20 TMEM52 LOC102724312 OR4F29 LOC100288069 LOC100506504 SLC35E2B SSU72 MIR6727 MIR6859-1 FAM132A GABRD FAAP20 DVL1 CPTP MIR200B ATAD3B LOC100288175 KLHL17 MIR200A SCNN1D UBE2J2 NOC2L B3GALT6 TTLL10 TAS1R3 SAMD11 LOC101928626 PRKCZ ATAD3A LOC148413 CPSF3L ANKRD65 TNFRSF18 FAM41C FAM87B LOC105378589 MORN1 LOC100132287 LOC105378591 MTND2P28 LOC100130417 VWA1 ATAD3C LOC729737 TMEM240 CDK11B LINC01342 LOC105378949 MIR429 LOC100134822 MIR1302-2 OR4F5 LOC100133331 PUSL1 HES4 LOC100287934 MIR6859-2
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion ISG15 NOC2L C1orf159 AGRN LOC107985728 LOC100130417 PLEKHN1 LOC105378948 SAMD11 RNF223 LOC284600 LOC100288175 KLHL17 HES4 PERM1
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion LOC284600 NOC2L LOC107985728 LOC100130417 PLEKHN1 SAMD11 KLHL17 PERM1
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain TNFRSF4 NOC2L AGRN LOC107985728 TTLL10 LOC105378948 SAMD11 RNF223 TNFRSF18 FAM41C ISG15 C1orf159 LOC100130417 PLEKHN1 TTLL10-AS1 LOC284600 LINC01342 MIR200B SDF4 MIR429 LOC100288175 KLHL17 MIR200A HES4 PERM1
esv1001028 Chr.1:975675 - 978354 on Build GRCh38 Insertion PERM1
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain NOC2L AGRN MTND1P23 LOC107985728 LOC105378948 SAMD11 LOC101928626 MIR6723 LOC107984841 RNF223 LINC01128 LOC100288069 FAM41C FAM87B OR4F16 ISG15 C1orf159 MTND2P28 LOC100130417 LINC00115 PLEKHN1 LOC284600 LOC105378947 LOC100288175 KLHL17 LOC100133331 HES4 PERM1 LOC100287934
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss MXRA8 NADK AGRN TMEM88B LOC107985728 SLC35E2 MMP23A MIR6726 LOC105378948 LOC107985729 MIB2 MRPL20 RNF223 LOC102724312 LINC01128 LOC100288069 FNDC10 SLC35E2B ISG15 SSU72 MIR6727 LINC00115 FAM132A PLEKHN1 LOC284600 DVL1 CPTP MIR200B ATAD3B LOC100288175 KLHL17 MIR200A SCNN1D UBE2J2 MIR6808 TNFRSF4 NOC2L B3GALT6 TTLL10 TAS1R3 SAMD11 ATAD3A CCNL2 LOC148413 CPSF3L AURKAIP1 ANKRD65 MMP23B TNFRSF18 FAM41C FAM87B ACAP3 C1orf159 LOC100130417 VWA1 ATAD3C TMEM240 TTLL10-AS1 CDK11B LINC01342 SDF4 MIR429 PUSL1 CDK11A HES4 PERM1 LOC100287934
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss TNFRSF4 NOC2L AGRN B3GALT6 LOC107985728 TTLL10 LOC105378948 SAMD11 RNF223 LINC01128 TNFRSF18 FAM41C FAM87B ISG15 C1orf159 LOC100130417 LINC00115 FAM132A PLEKHN1 TTLL10-AS1 LOC284600 LINC01342 MIR200B SDF4 MIR429 LOC100288175 KLHL17 MIR200A HES4 PERM1 UBE2J2
dgv7n106 Chr.1:976520 - 978320 on Build GRCh38 Deletion PERM1
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain ISG15 NOC2L C1orf159 AGRN PLEKHN1 LOC105378948 SAMD11 RNF223 LINC01342 LOC100288175 KLHL17 HES4 PERM1
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain TNFRSF4 MXRA8 NOC2L AGRN B3GALT6 TMEM88B LOC107985728 TTLL10 MIR6726 LOC105378948 TAS1R3 SAMD11 MRPL20 RNF223 CCNL2 LOC148413 CPSF3L AURKAIP1 ANKRD65 TNFRSF18 ACAP3 ISG15 MIR6727 C1orf159 LOC100130417 FAM132A PLEKHN1 TTLL10-AS1 LOC284600 LINC01342 DVL1 CPTP MIR200B SDF4 MIR429 LOC100288175 KLHL17 MIR200A SCNN1D PUSL1 HES4 PERM1 UBE2J2 MIR6808
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss LOC284600 ISG15 NOC2L AGRN LOC107985728 LOC100130417 PLEKHN1 SAMD11 KLHL17 HES4 PERM1
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion TNFRSF4 ISG15 NOC2L C1orf159 AGRN TTLL10 PLEKHN1 LOC105378948 SAMD11 TTLL10-AS1 RNF223 LINC01342 MIR200B SDF4 MIR429 LOC100288175 KLHL17 MIR200A TNFRSF18 HES4 PERM1
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LOC284600 LINC01128 NOC2L LOC107985728 LOC100130417 PLEKHN1 SAMD11 KLHL17 FAM41C HES4 PERM1

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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