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

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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