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

Chr.1:976590 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03385974_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:

 Overlaps Intron 3 - Exon 4
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
AK312221.1
BC006300.2 AAH06300.1
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 SAMD11 LOC284600 PLEKHN1 RNF223 C1orf159 LOC107985728 AGRN LOC100288175 HES4 NOC2L ISG15 KLHL17 LOC100130417 LOC105378948 PERM1
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss ATAD3C SDF4 LOC100506504 FAM132A LOC148413 DVL1 LOC107984841 CCNL2 PUSL1 AURKAIP1 WASH7P FAM87B LOC284600 MIB2 OR4F16 RNF223 SSU72 MIR429 LOC100129534 LOC729737 FAM138A TTLL10-AS1 PRKCZ LOC100132287 CPSF3L LOC100287934 FNDC10 FAM41C LOC107985728 MIR6859-2 HES4 NOC2L NADK KLHL17 TNFRSF4 OR4F29 SKI LOC105378948 MIR6727 LOC100288069 SAMD11 LOC105378592 GNB1 DDX11L1 CFAP74 LOC105378947 MIR6723 SLC35E2 TMEM240 CDK11B MIR200A MXRA8 ATAD3A LINC00115 MIR200B LOC100288175 LOC102725121 LOC105378949 CPTP MIR1302-2 PLEKHN1 MMP23B TTLL10 LINC01342 LOC105378589 OR4F5 VWA1 TNFRSF18 MIR6859-1 LOC101928626 LOC107985729 LOC105378591 MTND2P28 ACAP3 TAS1R3 SCNN1D CDK11A MRPL20 SLC35E2B ATAD3B TMEM52 MIR6808 MMP23A GABRD MIR6726 LOC100134822 MTND1P23 FAAP20 LOC100133331 LOC100130417 LINC01128 UBE2J2 TMEM88B LOC102724312 ANKRD65 CALML6 B3GALT6 C1orf159 AGRN MORN1 ISG15 PERM1
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion SAMD11 LOC284600 PLEKHN1 RNF223 C1orf159 LOC107985728 AGRN LOC100288175 HES4 NOC2L ISG15 KLHL17 LOC100130417 LOC105378948 PERM1
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion LOC107985728 SAMD11 LOC284600 NOC2L PLEKHN1 KLHL17 LOC100130417 PERM1
esv1001028 Chr.1:975675 - 978354 on Build GRCh38 Insertion PERM1
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain SDF4 FAM41C LOC107985728 LOC100288175 HES4 NOC2L KLHL17 TNFRSF4 LOC100130417 LOC105378948 SAMD11 LOC284600 PLEKHN1 RNF223 MIR429 TTLL10 C1orf159 LINC01342 AGRN TNFRSF18 ISG15 TTLL10-AS1 MIR200A PERM1 MIR200B
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss ATAD3C SDF4 FAM132A LOC148413 LOC100288175 DVL1 CCNL2 PUSL1 AURKAIP1 FAM87B LOC284600 MIB2 CPTP PLEKHN1 MMP23B RNF223 SSU72 MIR429 TTLL10 LINC01342 VWA1 TNFRSF18 LOC107985729 TTLL10-AS1 ACAP3 TAS1R3 CPSF3L LOC100287934 FNDC10 FAM41C SCNN1D CDK11A MRPL20 SLC35E2B ATAD3B MIR6808 MMP23A LOC107985728 MIR6726 HES4 NOC2L NADK KLHL17 TNFRSF4 LOC100130417 LOC105378948 MIR6727 LINC01128 LOC100288069 UBE2J2 TMEM88B SAMD11 LOC102724312 ANKRD65 B3GALT6 C1orf159 AGRN SLC35E2 ISG15 TMEM240 CDK11B MIR200A MXRA8 ATAD3A LINC00115 PERM1 MIR200B
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC100287934 FAM41C LOC107985728 LOC100288175 HES4 NOC2L LOC107984841 KLHL17 MTND1P23 LOC100133331 LOC100130417 LOC105378948 LINC01128 LOC100288069 SAMD11 FAM87B LOC284600 OR4F16 PLEKHN1 RNF223 LOC105378947 C1orf159 AGRN MIR6723 LOC101928626 ISG15 MTND2P28 LINC00115 PERM1
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss SDF4 FAM41C FAM132A LOC107985728 LOC100288175 HES4 NOC2L KLHL17 TNFRSF4 LOC100130417 LOC105378948 LINC01128 UBE2J2 SAMD11 FAM87B LOC284600 PLEKHN1 RNF223 MIR429 B3GALT6 TTLL10 C1orf159 LINC01342 AGRN TNFRSF18 ISG15 TTLL10-AS1 MIR200A LINC00115 PERM1 MIR200B
dgv7n106 Chr.1:976520 - 978320 on Build GRCh38 Deletion PERM1
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain SAMD11 PLEKHN1 RNF223 C1orf159 LINC01342 AGRN LOC100288175 HES4 NOC2L ISG15 KLHL17 LOC105378948 PERM1
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion SAMD11 SDF4 PLEKHN1 RNF223 MIR429 TTLL10 C1orf159 LINC01342 AGRN LOC100288175 TNFRSF18 HES4 NOC2L ISG15 TTLL10-AS1 KLHL17 TNFRSF4 MIR200A LOC105378948 PERM1 MIR200B
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss LOC107985728 AGRN SAMD11 HES4 LOC284600 NOC2L PLEKHN1 ISG15 KLHL17 LOC100130417 PERM1
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain CPSF3L SDF4 SCNN1D MRPL20 FAM132A MIR6808 LOC107985728 LOC148413 MIR6726 LOC100288175 HES4 NOC2L DVL1 KLHL17 TNFRSF4 CCNL2 LOC100130417 PUSL1 LOC105378948 MIR6727 AURKAIP1 UBE2J2 TMEM88B SAMD11 LOC284600 CPTP PLEKHN1 RNF223 MIR429 ANKRD65 B3GALT6 TTLL10 C1orf159 LINC01342 AGRN TNFRSF18 ISG15 TTLL10-AS1 MIR200A MXRA8 ACAP3 PERM1 TAS1R3 MIR200B
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LOC107985728 SAMD11 HES4 LOC284600 NOC2L PLEKHN1 FAM41C KLHL17 LOC100130417 LINC01128 PERM1

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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