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

Chr.1:979773 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03371096_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 1328 NP_001278295.1
NM_001291367.1 3 975 NP_001278296.1
XM_017002583.1 2 1430 XP_016858072.1
XM_017002584.1 2 1453 XP_016858073.1
XM_017002585.1 1 1885 XP_016858074.1
AK123855.1 3 951 BAC85711.1
KF150175.1 2 1328

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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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