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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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