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

Chr.1:981377 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03374286_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 NP_001278295.1
NM_001291367.1 NP_001278296.1
XM_017002583.1 XP_016858072.1
XM_017002584.1 XP_016858073.1
XM_017002585.1 1 281 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
esv2762302 Chr.1:914637 - 1106320 on Build GRCh38 Gain C1orf159 HES4 LOC107985728 LOC100130417 NOC2L RNF223 LOC284600 AGRN SAMD11 LOC100288175 PERM1 LOC105378948 ISG15 KLHL17 PLEKHN1
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss ATAD3C CPTP LOC105378592 LOC105378947 MIR429 ATAD3A DVL1 NADK OR4F16 PLEKHN1 LOC107985729 C1orf159 MORN1 LINC01128 FAM138A LOC107985728 LOC100133331 MIR6859-2 FNDC10 TTLL10 LOC284600 TMEM240 FAM132A B3GALT6 LOC102725121 AURKAIP1 OR4F5 HES4 LOC148413 MIR6859-1 SKI LOC107984841 PUSL1 MTND2P28 LOC100129534 MIR6723 SDF4 LOC105378591 ANKRD65 LOC100132287 MTND1P23 LOC105378948 CDK11A CALML6 SSU72 LOC100506504 LOC100287934 ISG15 KLHL17 TNFRSF18 CDK11B MMP23B MIR6726 LOC102724312 SAMD11 LOC100288175 VWA1 MIR1302-2 ATAD3B DDX11L1 MIR6808 MRPL20 LOC101928626 SLC35E2 CCNL2 LOC100130417 TMEM52 RNF223 SLC35E2B ACAP3 LOC105378589 FAM87B UBE2J2 MIR6727 LOC100134822 WASH7P MIR200B CPSF3L SCNN1D MMP23A MXRA8 LINC00115 CFAP74 FAAP20 PERM1 LOC105378949 GABRD LOC100288069 MIR200A TAS1R3 LINC01342 PRKCZ OR4F29 NOC2L TMEM88B MIB2 TTLL10-AS1 AGRN LOC729737 TNFRSF4 FAM41C GNB1
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion C1orf159 HES4 LOC107985728 LOC100130417 NOC2L RNF223 LOC284600 AGRN SAMD11 LOC100288175 PERM1 LOC105378948 ISG15 KLHL17 PLEKHN1
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion SAMD11 LOC107985728 LOC100130417 NOC2L PERM1 LOC284600 KLHL17 PLEKHN1
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain HES4 TNFRSF18 SAMD11 LOC100288175 MIR429 PERM1 MIR200A LINC01342 PLEKHN1 C1orf159 LOC107985728 LOC100130417 NOC2L SDF4 RNF223 TTLL10 TTLL10-AS1 LOC284600 AGRN LOC105378948 TNFRSF4 FAM41C MIR200B ISG15 KLHL17
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain HES4 SAMD11 LOC100288175 LINC00115 LOC105378947 PERM1 LOC100288069 LOC107984841 LOC101928626 OR4F16 PLEKHN1 C1orf159 LINC01128 MTND2P28 LOC107985728 LOC100130417 MIR6723 NOC2L RNF223 LOC100133331 FAM87B LOC284600 MTND1P23 AGRN LOC105378948 FAM41C LOC100287934 ISG15 KLHL17
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss ATAD3C CPTP TNFRSF18 CDK11B MMP23B MIR6726 LOC102724312 SAMD11 LOC100288175 VWA1 MIR429 ATAD3B ATAD3A MIR6808 MRPL20 DVL1 SLC35E2 NADK PLEKHN1 LOC107985729 C1orf159 LINC01128 CCNL2 LOC107985728 LOC100130417 RNF223 SLC35E2B ACAP3 FAM87B FNDC10 TTLL10 LOC284600 UBE2J2 MIR6727 TMEM240 FAM132A B3GALT6 MIR200B CPSF3L AURKAIP1 SCNN1D HES4 LOC148413 MMP23A MXRA8 LINC00115 PERM1 LOC100288069 MIR200A TAS1R3 PUSL1 LINC01342 NOC2L SDF4 TMEM88B MIB2 TTLL10-AS1 ANKRD65 AGRN LOC105378948 TNFRSF4 CDK11A FAM41C SSU72 LOC100287934 ISG15 KLHL17
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss HES4 TNFRSF18 SAMD11 LOC100288175 LINC00115 MIR429 PERM1 MIR200A LINC01342 PLEKHN1 C1orf159 LINC01128 LOC107985728 LOC100130417 NOC2L SDF4 RNF223 FAM87B TTLL10 TTLL10-AS1 LOC284600 UBE2J2 AGRN FAM132A LOC105378948 TNFRSF4 FAM41C B3GALT6 MIR200B ISG15 KLHL17
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain C1orf159 HES4 NOC2L RNF223 AGRN SAMD11 LOC100288175 PERM1 LOC105378948 ISG15 LINC01342 KLHL17 PLEKHN1
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain HES4 CPTP LOC148413 TNFRSF18 MIR6726 MXRA8 SAMD11 LOC100288175 MIR429 PERM1 MIR6808 MIR200A MRPL20 TAS1R3 PUSL1 DVL1 LINC01342 PLEKHN1 C1orf159 CCNL2 LOC107985728 LOC100130417 NOC2L SDF4 RNF223 ACAP3 TMEM88B TTLL10 TTLL10-AS1 LOC284600 ANKRD65 UBE2J2 MIR6727 AGRN FAM132A LOC105378948 TNFRSF4 B3GALT6 MIR200B ISG15 CPSF3L AURKAIP1 KLHL17 SCNN1D
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss HES4 AGRN SAMD11 LOC107985728 LOC100130417 NOC2L PERM1 ISG15 LOC284600 KLHL17 PLEKHN1
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion C1orf159 HES4 NOC2L SDF4 RNF223 TNFRSF18 TTLL10 TTLL10-AS1 AGRN SAMD11 LOC100288175 MIR429 PERM1 LOC105378948 TNFRSF4 MIR200A MIR200B ISG15 LINC01342 KLHL17 PLEKHN1
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LINC01128 HES4 SAMD11 LOC107985728 LOC100130417 NOC2L PERM1 FAM41C LOC284600 KLHL17 PLEKHN1

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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