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Gene Symbol
PERM1
Assay Reference Genome
Location

Chr.1:978555 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03372898_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
esv2762302 Chr.1:914637 - 1106320 on Build GRCh38 Gain LOC105378948 LOC100288175 SAMD11 ISG15 KLHL17 LOC107985728 HES4 AGRN RNF223 NOC2L PERM1 C1orf159 LOC100130417 PLEKHN1 LOC284600
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss FAM138A CFAP74 OR4F5 MIR6726 TNFRSF18 KLHL17 ACAP3 LOC100287934 CCNL2 DDX11L1 SKI AURKAIP1 VWA1 MTND1P23 DVL1 NOC2L LOC102724312 MIR200A SCNN1D CPSF3L SAMD11 MORN1 LOC148413 HES4 LOC102725121 TTLL10 PUSL1 PERM1 MIR1302-2 LOC100130417 MIR6859-1 MMP23A LOC105378948 LOC101928626 OR4F16 PRKCZ GABRD LOC100288069 CDK11A MIR429 LOC105378949 WASH7P PLEKHN1 LOC729737 LOC100288175 SLC35E2B ISG15 SLC35E2 MXRA8 LOC100133331 TMEM88B TNFRSF4 MIR200B MIR6727 LOC284600 FNDC10 LOC105378947 MIB2 MTND2P28 ATAD3C LOC107984841 MIR6723 RNF223 LOC107985729 LOC100129534 ANKRD65 CALML6 MIR6808 SSU72 CDK11B LOC100134822 LINC00115 ATAD3A LOC105378589 CPTP LINC01342 TMEM52 UBE2J2 FAM87B C1orf159 MIR6859-2 B3GALT6 LINC01128 LOC105378592 FAAP20 LOC107985728 GNB1 AGRN LOC105378591 ATAD3B LOC100506504 TMEM240 SDF4 TTLL10-AS1 FAM132A OR4F29 FAM41C LOC100132287 MRPL20 MMP23B TAS1R3 NADK
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion LOC105378948 LOC100288175 SAMD11 ISG15 KLHL17 LOC107985728 HES4 AGRN RNF223 NOC2L PERM1 C1orf159 LOC100130417 PLEKHN1 LOC284600
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion PERM1 SAMD11 LOC100130417 PLEKHN1 KLHL17 LOC284600 LOC107985728 NOC2L
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain LOC100288175 SAMD11 ISG15 TNFRSF18 KLHL17 LINC01342 HES4 TTLL10 PERM1 C1orf159 LOC100130417 TNFRSF4 MIR200B LOC284600 LOC105378948 MIR429 LOC107985728 AGRN RNF223 NOC2L MIR200A SDF4 TTLL10-AS1 PLEKHN1 FAM41C
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss LOC100288175 MIR6726 SLC35E2B ISG15 SLC35E2 MXRA8 TNFRSF18 KLHL17 ACAP3 TMEM88B TNFRSF4 LOC100287934 MIR200B MIR6727 LOC284600 FNDC10 CCNL2 MIB2 ATAD3C AURKAIP1 VWA1 DVL1 RNF223 NOC2L LOC107985729 LOC102724312 MIR200A ANKRD65 SCNN1D CPSF3L MIR6808 SSU72 CDK11B SAMD11 LINC00115 ATAD3A LOC148413 CPTP LINC01342 HES4 TTLL10 PUSL1 UBE2J2 PERM1 FAM87B C1orf159 LOC100130417 B3GALT6 LINC01128 MMP23A LOC105378948 LOC100288069 CDK11A MIR429 LOC107985728 AGRN ATAD3B TMEM240 SDF4 TTLL10-AS1 PLEKHN1 FAM132A FAM41C MRPL20 MMP23B TAS1R3 NADK
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC100288175 SAMD11 LINC00115 ISG15 KLHL17 LOC100133331 HES4 PERM1 FAM87B C1orf159 LOC100130417 LOC100287934 LOC284600 LINC01128 LOC105378947 LOC105378948 MTND2P28 LOC101928626 OR4F16 LOC107984841 MTND1P23 LOC100288069 LOC107985728 MIR6723 AGRN RNF223 NOC2L PLEKHN1 FAM41C
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss LOC100288175 SAMD11 LINC00115 ISG15 TNFRSF18 KLHL17 LINC01342 HES4 TTLL10 UBE2J2 PERM1 FAM87B C1orf159 LOC100130417 TNFRSF4 MIR200B B3GALT6 LOC284600 LINC01128 LOC105378948 MIR429 LOC107985728 AGRN RNF223 NOC2L MIR200A SDF4 TTLL10-AS1 PLEKHN1 FAM132A FAM41C
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain LOC105378948 LOC100288175 SAMD11 ISG15 KLHL17 LINC01342 HES4 AGRN RNF223 NOC2L PERM1 C1orf159 PLEKHN1
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion LOC105378948 LOC100288175 SAMD11 ISG15 TNFRSF18 KLHL17 LINC01342 MIR429 HES4 AGRN TTLL10 RNF223 NOC2L PERM1 MIR200A SDF4 TTLL10-AS1 C1orf159 PLEKHN1 TNFRSF4 MIR200B
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss PERM1 SAMD11 ISG15 LOC100130417 PLEKHN1 KLHL17 LOC284600 LOC107985728 HES4 AGRN NOC2L
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain LOC100288175 SAMD11 MIR6726 ISG15 LOC148413 CPTP MXRA8 TNFRSF18 KLHL17 LINC01342 ACAP3 HES4 TTLL10 PUSL1 UBE2J2 PERM1 TMEM88B C1orf159 LOC100130417 TNFRSF4 MIR200B MIR6727 B3GALT6 LOC284600 CCNL2 LOC105378948 AURKAIP1 MIR429 LOC107985728 AGRN DVL1 RNF223 NOC2L MIR200A ANKRD65 SDF4 TTLL10-AS1 PLEKHN1 FAM132A SCNN1D MRPL20 CPSF3L MIR6808 TAS1R3
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain PERM1 SAMD11 LOC100130417 PLEKHN1 KLHL17 FAM41C LOC284600 LOC107985728 LINC01128 HES4 NOC2L

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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