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

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More Information


Set Membership:

 Intragenic Exonic DGV Variation

Gene Ontology Categories:

Function(s)


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