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Gene Symbol
PERM1
Assay Reference Genome
Location

Chr.1:980198 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03385118_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 2 903 NP_001278295.1
NM_001291367.1 3 550 NP_001278296.1
XM_017002583.1 2 1005 XP_016858072.1
XM_017002584.1 2 1028 XP_016858073.1
XM_017002585.1 1 1460 XP_016858074.1
AK123855.1 3 526 BAC85711.1
KF150175.1 2 903

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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