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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
Price 4,496.00
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4496.0
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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 LOC105378948 C1orf159 PLEKHN1 SAMD11 HES4 RNF223 LOC107985728 ISG15 KLHL17 LOC100288175 PERM1 LOC100130417 AGRN LOC284600 NOC2L
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss GABRD ATAD3A MRPL20 MORN1 MIR6808 CALML6 MIB2 TAS1R3 ACAP3 MIR6726 DDX11L1 LOC100288069 FNDC10 MIR200A CPSF3L LOC101928626 RNF223 FAM138A LOC107985728 LOC105378591 LOC100130417 LOC100129534 MIR200B NOC2L LOC105378948 CDK11A GNB1 FAAP20 OR4F16 LOC148413 LOC105378592 LOC729737 TTLL10-AS1 LOC100132287 SDF4 LOC102725121 LOC105378947 MIR429 CPTP AGRN LOC284600 ATAD3B MXRA8 TNFRSF4 DVL1 TMEM240 OR4F5 CFAP74 VWA1 HES4 NADK AURKAIP1 MMP23B SLC35E2 LOC100288175 TTLL10 MTND1P23 PLEKHN1 SAMD11 SLC35E2B ATAD3C PRKCZ LOC105378589 MIR6723 CCNL2 LINC00115 KLHL17 SCNN1D LOC100133331 PUSL1 WASH7P MIR6859-1 PERM1 MIR6859-2 ANKRD65 UBE2J2 C1orf159 LOC102724312 MIR1302-2 ISG15 SKI SSU72 LOC105378949 FAM41C B3GALT6 TMEM52 MTND2P28 FAM132A LOC107985729 CDK11B LINC01128 LOC100506504 OR4F29 LOC100287934 LOC100134822 TNFRSF18 MIR6727 MMP23A TMEM88B LINC01342 FAM87B LOC107984841
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion LOC105378948 C1orf159 PLEKHN1 SAMD11 HES4 RNF223 LOC107985728 ISG15 KLHL17 LOC100288175 PERM1 LOC100130417 AGRN LOC284600 NOC2L
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion LOC107985728 KLHL17 PERM1 PLEKHN1 SAMD11 LOC100130417 LOC284600 NOC2L
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain LOC105378948 PLEKHN1 SAMD11 TTLL10-AS1 KLHL17 SDF4 TNFRSF18 PERM1 MIR429 AGRN LOC284600 MIR200A TNFRSF4 C1orf159 LINC01342 HES4 RNF223 LOC107985728 ISG15 LOC100288175 TTLL10 FAM41C LOC100130417 MIR200B NOC2L
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss ATAD3A MRPL20 MIR6808 MIB2 PLEKHN1 TAS1R3 SAMD11 SLC35E2B ATAD3C ACAP3 MIR6726 CCNL2 LINC00115 KLHL17 SCNN1D PUSL1 PERM1 ANKRD65 LOC100288069 FNDC10 MIR200A UBE2J2 CPSF3L C1orf159 LOC102724312 RNF223 LOC107985728 ISG15 SSU72 FAM41C B3GALT6 LOC100130417 MIR200B FAM132A NOC2L LOC105378948 CDK11A LOC107985729 CDK11B LOC148413 LINC01128 LOC100287934 TTLL10-AS1 SDF4 TNFRSF18 MIR6727 MIR429 CPTP AGRN LOC284600 ATAD3B MXRA8 TNFRSF4 DVL1 TMEM240 VWA1 MMP23A TMEM88B LINC01342 HES4 NADK FAM87B AURKAIP1 MMP23B SLC35E2 LOC100288175 TTLL10
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC105378948 MTND1P23 OR4F16 LINC01128 PLEKHN1 SAMD11 MIR6723 LOC100287934 LINC00115 KLHL17 LOC100133331 PERM1 LOC105378947 LOC100288069 AGRN LOC284600 C1orf159 LOC101928626 HES4 RNF223 FAM87B LOC107985728 ISG15 LOC100288175 FAM41C LOC107984841 LOC100130417 MTND2P28 NOC2L
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss LOC105378948 LINC01128 PLEKHN1 SAMD11 TTLL10-AS1 LINC00115 KLHL17 SDF4 TNFRSF18 PERM1 MIR429 AGRN LOC284600 MIR200A TNFRSF4 UBE2J2 C1orf159 LINC01342 HES4 RNF223 FAM87B LOC107985728 ISG15 LOC100288175 TTLL10 FAM41C B3GALT6 LOC100130417 MIR200B FAM132A NOC2L
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain LOC105378948 C1orf159 LINC01342 PLEKHN1 SAMD11 HES4 RNF223 ISG15 KLHL17 LOC100288175 PERM1 AGRN NOC2L
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion LOC105378948 TNFRSF4 C1orf159 LINC01342 PLEKHN1 SAMD11 HES4 RNF223 ISG15 TTLL10-AS1 KLHL17 SDF4 TNFRSF18 LOC100288175 TTLL10 PERM1 MIR429 AGRN MIR200B MIR200A NOC2L
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss LOC107985728 ISG15 KLHL17 PERM1 PLEKHN1 SAMD11 LOC100130417 AGRN HES4 LOC284600 NOC2L
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain LOC105378948 LOC148413 MRPL20 MIR6808 PLEKHN1 TAS1R3 SAMD11 ACAP3 MIR6726 TTLL10-AS1 CCNL2 KLHL17 SCNN1D SDF4 TNFRSF18 PUSL1 MIR6727 PERM1 ANKRD65 MIR429 CPTP AGRN LOC284600 MIR200A MXRA8 TNFRSF4 DVL1 UBE2J2 CPSF3L C1orf159 TMEM88B LINC01342 HES4 RNF223 AURKAIP1 LOC107985728 ISG15 LOC100288175 TTLL10 B3GALT6 LOC100130417 MIR200B FAM132A NOC2L
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LOC107985728 KLHL17 LINC01128 PERM1 FAM41C PLEKHN1 SAMD11 LOC100130417 HES4 LOC284600 NOC2L

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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