accessibility menu, dialog, popup

UserName
Viewing profile as user:

Please enter the information below and press OK to send your cart to Core Services for purchase.

    

System Message

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

Chr.1:976590 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03385974_cn
Size
Availability Made To Order
Catalog # 4400291
Price
Your Price
Online offer:
Check your price ›

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 4
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
AK312221.1
BC006300.2 AAH06300.1
KF150175.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1073996 Chr.1:976519 - 978220 on Build GRCh38 Deletion PERM1
esv2762302 Chr.1:914637 - 1106320 on Build GRCh38 Gain LOC105378948 LOC107985728 C1orf159 SAMD11 HES4 PLEKHN1 LOC100130417 RNF223 LOC284600 AGRN NOC2L KLHL17 PERM1 ISG15 LOC100288175
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss ANKRD65 LOC100133331 ATAD3A MIR200A CCNL2 PLEKHN1 CPTP AGRN LINC01342 B3GALT6 OR4F29 OR4F5 LOC107985729 C1orf159 MIR429 MIR6727 RNF223 FNDC10 LOC101928626 UBE2J2 CDK11A ACAP3 LOC105378949 TAS1R3 GABRD LOC100132287 LOC105378591 MTND1P23 LOC105378592 KLHL17 MIR6808 CDK11B SKI TTLL10 LOC105378948 VWA1 FAM132A OR4F16 MORN1 TMEM88B LOC107984841 SSU72 NADK MIR6723 PERM1 LOC100288175 FAM41C SCNN1D PUSL1 FAM138A MMP23A LOC100506504 TMEM52 CALML6 ATAD3C MIR1302-2 LOC100129534 LOC100134822 TMEM240 LINC00115 LOC102724312 MRPL20 LOC102725121 LOC107985728 SDF4 CFAP74 MIR6859-2 TTLL10-AS1 NOC2L AURKAIP1 MMP23B MIR6859-1 WASH7P MTND2P28 ISG15 LINC01128 FAM87B CPSF3L TNFRSF4 LOC148413 ATAD3B HES4 PRKCZ DVL1 MXRA8 LOC284600 MIR6726 SLC35E2 SLC35E2B LOC105378947 MIR200B SAMD11 DDX11L1 TNFRSF18 LOC100287934 LOC729737 LOC100130417 LOC105378589 GNB1 MIB2 LOC100288069 FAAP20
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion LOC105378948 LOC107985728 C1orf159 SAMD11 HES4 PLEKHN1 LOC100130417 RNF223 LOC284600 AGRN NOC2L KLHL17 PERM1 ISG15 LOC100288175
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion LOC284600 NOC2L KLHL17 LOC107985728 SAMD11 PERM1 PLEKHN1 LOC100130417
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain FAM41C TNFRSF4 MIR200A HES4 PLEKHN1 LOC284600 AGRN KLHL17 LINC01342 TTLL10 MIR200B LOC105378948 LOC107985728 SDF4 C1orf159 SAMD11 MIR429 TNFRSF18 TTLL10-AS1 LOC100130417 RNF223 NOC2L PERM1 ISG15 LOC100288175
esv1001028 Chr.1:975675 - 978354 on Build GRCh38 Insertion PERM1
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LINC01128 FAM41C FAM87B LOC100133331 MTND1P23 HES4 PLEKHN1 LOC284600 AGRN KLHL17 LOC105378947 LINC00115 LOC105378948 OR4F16 LOC107985728 C1orf159 SAMD11 LOC100287934 LOC100130417 RNF223 LOC107984841 LOC101928626 NOC2L LOC100288069 MIR6723 PERM1 MTND2P28 ISG15 LOC100288175
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss FAM41C ANKRD65 SCNN1D PUSL1 ATAD3A MMP23A MIR200A CCNL2 PLEKHN1 CPTP ATAD3C AGRN LINC01342 TMEM240 B3GALT6 LINC00115 LOC102724312 LOC107985729 MRPL20 LOC107985728 SDF4 C1orf159 MIR429 MIR6727 TTLL10-AS1 RNF223 FNDC10 NOC2L AURKAIP1 UBE2J2 MMP23B CDK11A ISG15 ACAP3 LINC01128 TAS1R3 FAM87B CPSF3L TNFRSF4 LOC148413 ATAD3B HES4 DVL1 MXRA8 LOC284600 MIR6726 SLC35E2 KLHL17 MIR6808 SLC35E2B CDK11B TTLL10 MIR200B LOC105378948 VWA1 FAM132A SAMD11 TNFRSF18 LOC100287934 TMEM88B LOC100130417 MIB2 SSU72 NADK LOC100288069 PERM1 LOC100288175
esv2670613 Chr.1:976265 - 979812 on Build GRCh38 Deletion PERM1
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss LINC01128 FAM41C FAM87B TNFRSF4 MIR200A HES4 PLEKHN1 LOC284600 AGRN KLHL17 LINC01342 B3GALT6 LINC00115 TTLL10 MIR200B LOC105378948 FAM132A LOC107985728 SDF4 C1orf159 SAMD11 MIR429 TNFRSF18 TTLL10-AS1 LOC100130417 RNF223 NOC2L UBE2J2 PERM1 ISG15 LOC100288175
dgv7n106 Chr.1:976520 - 978320 on Build GRCh38 Deletion PERM1
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain LOC105378948 C1orf159 SAMD11 HES4 PLEKHN1 RNF223 AGRN NOC2L KLHL17 LINC01342 PERM1 ISG15 LOC100288175
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain TAS1R3 ANKRD65 SCNN1D CPSF3L TNFRSF4 PUSL1 LOC148413 MIR200A HES4 CCNL2 PLEKHN1 CPTP DVL1 MXRA8 LOC284600 MIR6726 AGRN KLHL17 MIR6808 LINC01342 B3GALT6 TTLL10 MIR200B LOC105378948 MRPL20 FAM132A LOC107985728 SDF4 C1orf159 SAMD11 MIR429 TNFRSF18 MIR6727 TMEM88B TTLL10-AS1 LOC100130417 RNF223 NOC2L AURKAIP1 UBE2J2 PERM1 ISG15 ACAP3 LOC100288175
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss LOC284600 AGRN NOC2L KLHL17 LOC107985728 SAMD11 HES4 PERM1 ISG15 PLEKHN1 LOC100130417
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion TTLL10 MIR200B LOC105378948 TNFRSF4 SDF4 C1orf159 SAMD11 MIR429 TNFRSF18 MIR200A HES4 PLEKHN1 TTLL10-AS1 RNF223 AGRN NOC2L KLHL17 LINC01342 PERM1 ISG15 LOC100288175
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LINC01128 FAM41C LOC284600 NOC2L KLHL17 LOC107985728 SAMD11 HES4 PERM1 PLEKHN1 LOC100130417

Back To Top

More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


Back To Top

Related Products