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Gene Symbol
PERM1
Assay Reference Genome
Location

Chr.1:981377 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03374286_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 NP_001278295.1
NM_001291367.1 NP_001278296.1
XM_017002583.1 XP_016858072.1
XM_017002584.1 XP_016858073.1
XM_017002585.1 1 281 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 PLEKHN1 KLHL17 LOC100130417 C1orf159 SAMD11 NOC2L LOC284600 PERM1 LOC107985728 ISG15 HES4 LOC105378948 AGRN LOC100288175 RNF223
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss LOC100132287 LOC100287934 LINC01128 LOC100130417 DVL1 CPTP NOC2L TTLL10 LOC105378591 SLC35E2B MIR200B MIR429 MIR1302-2 CDK11A C1orf159 SAMD11 GABRD LOC105378589 DDX11L1 LOC107984841 B3GALT6 LOC100288175 UBE2J2 RNF223 TNFRSF18 SSU72 MIR6726 CPSF3L LINC01342 LOC105378949 ANKRD65 PERM1 ATAD3A MIB2 CDK11B TMEM88B MMP23A MTND1P23 PLEKHN1 NADK VWA1 LINC00115 LOC284600 GNB1 LOC105378947 LOC100288069 LOC100506504 LOC105378948 MIR6723 TAS1R3 LOC107985729 LOC101928626 MIR6859-1 PUSL1 MIR6859-2 TMEM52 CALML6 TMEM240 LOC105378592 CCNL2 FAM138A LOC100129534 WASH7P MTND2P28 ACAP3 FAM41C FNDC10 SKI FAAP20 LOC107985728 OR4F29 TTLL10-AS1 ATAD3C AGRN LOC100134822 MIR200A SCNN1D AURKAIP1 KLHL17 ATAD3B OR4F5 PRKCZ FAM132A MRPL20 ISG15 LOC729737 OR4F16 MXRA8 FAM87B CFAP74 MIR6808 LOC148413 SDF4 LOC102724312 LOC100133331 MORN1 SLC35E2 TNFRSF4 MMP23B HES4 MIR6727 LOC102725121
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion PLEKHN1 KLHL17 LOC100130417 C1orf159 SAMD11 NOC2L LOC284600 PERM1 LOC107985728 ISG15 HES4 LOC105378948 AGRN LOC100288175 RNF223
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion NOC2L LOC284600 PERM1 PLEKHN1 KLHL17 LOC107985728 LOC100130417 SAMD11
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain MIR200A KLHL17 LOC100130417 LINC01342 NOC2L PERM1 TTLL10 ISG15 MIR200B MIR429 PLEKHN1 C1orf159 SAMD11 SDF4 FAM41C LOC284600 LOC107985728 TNFRSF4 TTLL10-AS1 HES4 LOC105378948 AGRN LOC100288175 RNF223 TNFRSF18
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss LOC107985729 LOC100287934 PUSL1 LINC01128 LOC100130417 DVL1 CPTP NOC2L TTLL10 SLC35E2B MIR200B TMEM240 MIR429 CDK11A CCNL2 C1orf159 SAMD11 ACAP3 FAM41C FNDC10 LOC107985728 B3GALT6 TTLL10-AS1 ATAD3C AGRN LOC100288175 UBE2J2 RNF223 TNFRSF18 MIR200A SCNN1D AURKAIP1 KLHL17 SSU72 MIR6726 ATAD3B CPSF3L LINC01342 ANKRD65 PERM1 ATAD3A FAM132A MRPL20 ISG15 MIB2 CDK11B MXRA8 TMEM88B FAM87B MMP23A PLEKHN1 MIR6808 LOC148413 SDF4 LOC102724312 NADK VWA1 SLC35E2 LINC00115 LOC284600 TNFRSF4 LOC100288069 MMP23B HES4 LOC105378948 TAS1R3 MIR6727
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC100287934 LOC101928626 KLHL17 LINC01128 LOC100130417 NOC2L PERM1 ISG15 OR4F16 FAM87B MTND1P23 PLEKHN1 C1orf159 SAMD11 MTND2P28 LOC100133331 FAM41C LINC00115 LOC284600 LOC107984841 LOC107985728 LOC105378947 LOC100288069 HES4 LOC105378948 MIR6723 AGRN LOC100288175 RNF223
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss MIR200A KLHL17 LINC01128 LOC100130417 LINC01342 NOC2L PERM1 TTLL10 FAM132A ISG15 MIR200B MIR429 FAM87B PLEKHN1 C1orf159 SAMD11 SDF4 FAM41C LINC00115 LOC284600 LOC107985728 B3GALT6 TNFRSF4 TTLL10-AS1 HES4 LOC105378948 AGRN LOC100288175 UBE2J2 RNF223 TNFRSF18
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain PLEKHN1 KLHL17 C1orf159 SAMD11 LINC01342 NOC2L PERM1 ISG15 HES4 LOC105378948 AGRN LOC100288175 RNF223
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion MIR200A PLEKHN1 KLHL17 C1orf159 SAMD11 SDF4 LINC01342 NOC2L PERM1 TTLL10 TNFRSF4 TTLL10-AS1 ISG15 MIR200B HES4 LOC105378948 AGRN LOC100288175 MIR429 RNF223 TNFRSF18
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss NOC2L LOC284600 PERM1 PLEKHN1 KLHL17 LOC107985728 LOC100130417 SAMD11 ISG15 HES4 AGRN
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain MIR200A SCNN1D AURKAIP1 PUSL1 KLHL17 LOC100130417 DVL1 MIR6726 CPSF3L CPTP LINC01342 ANKRD65 NOC2L PERM1 TTLL10 FAM132A MRPL20 ISG15 MIR200B MIR429 MXRA8 TMEM88B PLEKHN1 CCNL2 C1orf159 SAMD11 MIR6808 LOC148413 SDF4 ACAP3 LOC284600 LOC107985728 B3GALT6 TNFRSF4 TTLL10-AS1 HES4 LOC105378948 TAS1R3 AGRN MIR6727 LOC100288175 UBE2J2 RNF223 TNFRSF18
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain FAM41C NOC2L LOC284600 PERM1 PLEKHN1 KLHL17 LINC01128 LOC107985728 LOC100130417 SAMD11 HES4

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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