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

Chr.1:979244 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03374669_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 1857 NP_001278295.1
NM_001291367.1 3 1504 NP_001278296.1
XM_017002583.1 2 1959 XP_016858072.1
XM_017002584.1 2 1982 XP_016858073.1
XM_017002585.1 1 2414 XP_016858074.1
AK123855.1 3 1480 BAC85711.1
KF150175.1 2 1857

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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