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.1:976136 on build GRCh38
Cytoband
1p36.33
Assay ID Hs03329322_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:

 Within Exon 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PERM1 NM_001291366.1 4 2480 NP_001278295.1
NM_001291367.1 5 2127 NP_001278296.1
XM_017002583.1 4 2582 XP_016858072.1
XM_017002584.1 4 2605 XP_016858073.1
XM_017002585.1 3 2971 XP_016858074.1
AK123855.1 5 2103 BAC85711.1
BC006300.2 2 277 AAH06300.1
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 ISG15 PERM1 LOC284600 AGRN PLEKHN1 C1orf159 RNF223 KLHL17 HES4 NOC2L LOC100130417 LOC105378948 LOC100288175 SAMD11 LOC107985728
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss ISG15 LOC100287934 LOC100134822 SDF4 MORN1 TNFRSF4 MIR6859-1 MMP23A OR4F5 NOC2L LINC01342 LOC102725121 LOC100129534 LOC107984841 TTLL10-AS1 LOC100506504 LOC105378592 ATAD3A CPTP DVL1 SSU72 LOC100133331 MTND2P28 NADK LOC107985728 TMEM240 LOC101928626 MIB2 AURKAIP1 MTND1P23 SKI MIR6859-2 MIR6723 CCNL2 CFAP74 LOC105378948 PRKCZ FNDC10 LOC284600 MIR200A FAM87B FAM132A KLHL17 MIR200B ACAP3 PUSL1 MIR6808 FAAP20 CDK11B MRPL20 CDK11A B3GALT6 FAM138A ATAD3B SAMD11 DDX11L1 LOC107985729 LOC105378591 FAM41C SLC35E2 TTLL10 LINC01128 CALML6 MXRA8 TMEM88B LOC105378947 UBE2J2 GNB1 VWA1 GABRD CPSF3L OR4F16 MIR6727 LOC105378589 WASH7P MIR1302-2 ANKRD65 LOC148413 LOC102724312 LOC100288069 LINC00115 TNFRSF18 SCNN1D AGRN PLEKHN1 C1orf159 RNF223 ATAD3C LOC100130417 LOC105378949 PERM1 MIR429 TAS1R3 OR4F29 LOC729737 MIR6726 SLC35E2B HES4 LOC100132287 TMEM52 MMP23B LOC100288175
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion ISG15 PERM1 LOC284600 AGRN PLEKHN1 C1orf159 RNF223 KLHL17 HES4 NOC2L LOC100130417 LOC105378948 LOC100288175 SAMD11 LOC107985728
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion KLHL17 PERM1 LOC284600 NOC2L LOC100130417 PLEKHN1 SAMD11 LOC107985728
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain ISG15 FAM41C AGRN SDF4 PLEKHN1 C1orf159 RNF223 TNFRSF4 TTLL10 NOC2L LOC100130417 LOC105378948 LINC01342 PERM1 LOC284600 MIR429 MIR200A TTLL10-AS1 KLHL17 HES4 MIR200B TNFRSF18 LOC100288175 SAMD11 LOC107985728
esv1001028 Chr.1:975675 - 978354 on Build GRCh38 Insertion PERM1
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain ISG15 LOC101928626 LOC100287934 MTND1P23 FAM41C AGRN PLEKHN1 C1orf159 RNF223 LINC01128 MIR6723 NOC2L LOC100130417 LOC105378948 LOC105378947 PERM1 LOC284600 OR4F16 FAM87B LOC107984841 KLHL17 HES4 LOC100288069 LINC00115 LOC100288175 SAMD11 LOC100133331 MTND2P28 LOC107985728
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss ISG15 LOC100287934 LOC107985729 FAM41C SDF4 SLC35E2 TNFRSF4 MMP23A TTLL10 LINC01128 NOC2L MXRA8 TMEM88B UBE2J2 VWA1 LINC01342 CPSF3L MIR6727 TTLL10-AS1 ANKRD65 LOC148413 ATAD3A LOC102724312 CPTP LOC100288069 LINC00115 DVL1 TNFRSF18 SSU72 NADK LOC107985728 TMEM240 SCNN1D MIB2 AURKAIP1 AGRN PLEKHN1 C1orf159 RNF223 ATAD3C CCNL2 LOC100130417 LOC105378948 FNDC10 PERM1 LOC284600 MIR429 TAS1R3 MIR200A FAM87B MIR6726 FAM132A SLC35E2B KLHL17 HES4 MIR200B ACAP3 PUSL1 MIR6808 CDK11B MRPL20 CDK11A MMP23B LOC100288175 B3GALT6 ATAD3B SAMD11
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss ISG15 FAM41C AGRN SDF4 PLEKHN1 C1orf159 RNF223 TNFRSF4 TTLL10 LINC01128 NOC2L LOC100130417 LOC105378948 UBE2J2 LINC01342 PERM1 LOC284600 MIR429 MIR200A FAM87B TTLL10-AS1 FAM132A KLHL17 HES4 MIR200B LINC00115 TNFRSF18 LOC100288175 B3GALT6 SAMD11 LOC107985728
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain ISG15 PERM1 AGRN PLEKHN1 C1orf159 RNF223 KLHL17 HES4 NOC2L LOC105378948 LOC100288175 SAMD11 LINC01342
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain ISG15 SCNN1D AURKAIP1 AGRN SDF4 PLEKHN1 C1orf159 RNF223 TNFRSF4 TTLL10 NOC2L CCNL2 LOC100130417 LOC105378948 MXRA8 TMEM88B UBE2J2 LINC01342 CPSF3L PERM1 LOC284600 MIR429 TAS1R3 MIR6727 MIR200A TTLL10-AS1 ANKRD65 MIR6726 LOC148413 FAM132A KLHL17 HES4 MIR200B ACAP3 PUSL1 CPTP MIR6808 DVL1 TNFRSF18 MRPL20 LOC100288175 B3GALT6 SAMD11 LOC107985728
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss ISG15 KLHL17 HES4 PERM1 LOC284600 NOC2L LOC100130417 AGRN PLEKHN1 SAMD11 LOC107985728
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion ISG15 PERM1 MIR429 MIR200A AGRN SDF4 PLEKHN1 C1orf159 TTLL10-AS1 RNF223 TNFRSF4 TTLL10 KLHL17 HES4 MIR200B NOC2L TNFRSF18 LOC105378948 LOC100288175 SAMD11 LINC01342
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain KLHL17 HES4 PERM1 LOC284600 LINC01128 NOC2L LOC100130417 FAM41C PLEKHN1 SAMD11 LOC107985728

Back To Top

More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


Back To Top

Related Products