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

Chr.1:978887 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03375515_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:

 Overlaps Intron 3 - Exon 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 SAMD11 LOC105378948 ISG15 LOC284600 PLEKHN1 KLHL17 AGRN LOC100288175 C1orf159 RNF223 PERM1 LOC100130417 NOC2L HES4 LOC107985728
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss ATAD3C MIR6727 CCNL2 ACAP3 GNB1 TTLL10 KLHL17 MIR429 MIR6726 LOC107985729 LOC100133331 B3GALT6 MIR1302-2 MXRA8 OR4F16 TNFRSF18 OR4F5 CFAP74 ISG15 MIR200B CALML6 LOC100134822 TNFRSF4 LOC107984841 ANKRD65 MTND1P23 MTND2P28 MIR6859-1 LOC148413 AURKAIP1 SAMD11 LOC105378591 LOC105378948 GABRD LOC284600 LOC100288069 VWA1 LOC102725121 FAM41C CPSF3L LOC100506504 SLC35E2 PUSL1 DVL1 FAM132A MIR6808 LOC105378589 AGRN SDF4 WASH7P RNF223 PERM1 LOC729737 FAM138A HES4 LOC101928626 LINC01128 LOC105378947 MRPL20 DDX11L1 LINC00115 LOC105378949 LOC100288175 NADK CDK11A MIB2 FAAP20 LOC100132287 LOC105378592 ATAD3A LINC01342 TMEM88B LOC100129534 SSU72 TMEM240 TMEM52 FAM87B SCNN1D NOC2L MMP23B MIR6859-2 CPTP TAS1R3 UBE2J2 FNDC10 C1orf159 LOC100287934 ATAD3B OR4F29 LOC107985728 SLC35E2B TTLL10-AS1 PRKCZ SKI CDK11B MORN1 PLEKHN1 MMP23A MIR6723 LOC100130417 MIR200A LOC102724312
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion SAMD11 LOC105378948 ISG15 LOC284600 PLEKHN1 KLHL17 AGRN LOC100288175 C1orf159 RNF223 PERM1 LOC100130417 NOC2L HES4 LOC107985728
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion SAMD11 PERM1 LOC284600 LOC100130417 NOC2L LOC107985728 PLEKHN1 KLHL17
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain SAMD11 LOC105378948 LOC284600 TTLL10 KLHL17 MIR429 FAM41C LOC100288175 C1orf159 LOC107985728 TTLL10-AS1 TNFRSF18 ISG15 LINC01342 MIR200B PLEKHN1 AGRN SDF4 RNF223 PERM1 TNFRSF4 LOC100130417 NOC2L HES4 MIR200A
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC101928626 SAMD11 LINC01128 LOC105378948 LOC105378947 LOC284600 LOC100288069 LINC00115 KLHL17 FAM41C LOC100288175 C1orf159 LOC100287934 LOC100133331 LOC107985728 OR4F16 ISG15 PLEKHN1 AGRN RNF223 PERM1 MIR6723 LOC107984841 MTND1P23 FAM87B LOC100130417 MTND2P28 NOC2L HES4
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss ATAD3C LINC01128 MIR6727 CCNL2 ACAP3 MRPL20 TTLL10 LINC00115 KLHL17 MIR429 MIR6726 LOC100288175 LOC107985729 B3GALT6 NADK CDK11A MIB2 MXRA8 TNFRSF18 ISG15 ATAD3A LINC01342 MIR200B TMEM88B SSU72 TMEM240 TNFRSF4 ANKRD65 FAM87B SCNN1D NOC2L LOC148413 MMP23B AURKAIP1 CPTP SAMD11 LOC105378948 TAS1R3 UBE2J2 LOC284600 LOC100288069 VWA1 FNDC10 FAM41C CPSF3L C1orf159 LOC100287934 ATAD3B LOC107985728 SLC35E2 PUSL1 SLC35E2B TTLL10-AS1 DVL1 FAM132A CDK11B MIR6808 PLEKHN1 AGRN SDF4 MMP23A RNF223 PERM1 LOC100130417 HES4 MIR200A LOC102724312
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss SAMD11 LINC01128 LOC105378948 UBE2J2 LOC284600 TTLL10 LINC00115 KLHL17 MIR429 FAM41C LOC100288175 C1orf159 B3GALT6 LOC107985728 TTLL10-AS1 FAM132A TNFRSF18 ISG15 LINC01342 MIR200B PLEKHN1 AGRN SDF4 RNF223 PERM1 TNFRSF4 FAM87B LOC100130417 NOC2L HES4 MIR200A
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain SAMD11 LOC105378948 ISG15 LINC01342 PLEKHN1 KLHL17 AGRN LOC100288175 C1orf159 RNF223 PERM1 NOC2L HES4
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain CPTP SAMD11 MIR6727 LOC105378948 CCNL2 TAS1R3 UBE2J2 ACAP3 MRPL20 LOC284600 TTLL10 KLHL17 MIR429 MIR6726 LOC100288175 CPSF3L C1orf159 B3GALT6 LOC107985728 MXRA8 PUSL1 TTLL10-AS1 DVL1 FAM132A TNFRSF18 ISG15 MIR6808 LINC01342 MIR200B PLEKHN1 TMEM88B AGRN SDF4 RNF223 PERM1 TNFRSF4 ANKRD65 SCNN1D LOC100130417 NOC2L HES4 LOC148413 AURKAIP1 MIR200A
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss SAMD11 PERM1 ISG15 LOC284600 LOC100130417 NOC2L HES4 LOC107985728 PLEKHN1 KLHL17 AGRN
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion SAMD11 TTLL10-AS1 LOC105378948 TNFRSF18 ISG15 LINC01342 TTLL10 MIR200B PLEKHN1 KLHL17 AGRN MIR429 SDF4 LOC100288175 C1orf159 RNF223 PERM1 TNFRSF4 NOC2L HES4 MIR200A
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain FAM41C SAMD11 LINC01128 PERM1 LOC284600 LOC100130417 NOC2L HES4 LOC107985728 PLEKHN1 KLHL17

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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