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

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s)


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