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See other PLEKHN1 CNV Assays ›
Gene Symbol
PLEKHN1
Assay Reference Genome
Location

Chr.1:969266 on build GRCh38
Cytoband
1p36.33
Assay ID Hs04191956_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 84069

Gene Name:

 pleckstrin homology domain containing N1

Gene Aliases:

 -

Location:

 Chr.1:965820-975108 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PLEKHN1 NM_001160184.1 NP_001153656.1
NM_032129.2 NP_115505.2
XM_006710944.3 XP_006711007.2
XM_011542248.2 XP_011540550.2
XM_017002474.1 XP_016857963.1
XM_017002475.1 XP_016857964.1
XM_017002476.1 XP_016857965.1
XM_017002477.1 XP_016857966.1
XM_017002478.1 XP_016857967.1
XM_017002479.1 XP_016857968.1
AL136730.1 CAB66664.1
BC101386.2 AAI01387.1
BC101387.2 AAI01388.1

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 LOC100288175 SAMD11 C1orf159 LOC284600 RNF223 PERM1 LOC105378948 KLHL17 HES4 PLEKHN1 LOC100130417 ISG15 LOC107985728 NOC2L AGRN
nsv482937 Chr.1:10001 - 2368561 on Build GRCh38 Loss FAM41C DDX11L1 LOC100287934 MMP23B MIR6723 KLHL17 MRPL20 TAS1R3 GNB1 MTND2P28 MMP23A TNFRSF4 CALML6 LOC729737 LOC102725121 VWA1 LOC101928626 SDF4 ISG15 SSU72 MIR6727 NOC2L TMEM52 SCNN1D AGRN OR4F29 LOC107985729 SLC35E2 AURKAIP1 TTLL10 ATAD3B WASH7P PRKCZ LOC105378589 LOC100288069 LOC105378591 CFAP74 UBE2J2 SKI ANKRD65 LOC102724312 LINC01128 MIR1302-2 PERM1 MXRA8 ATAD3C TMEM88B CDK11A SAMD11 C1orf159 LOC100129534 ATAD3A LINC01342 FAM138A MIR6808 MIR6859-2 LOC100134822 DVL1 MIR200A CCNL2 LOC105378947 GABRD MORN1 SLC35E2B B3GALT6 CDK11B OR4F16 LOC100506504 FNDC10 LOC148413 MIR6859-1 NADK CPTP MIR6726 FAAP20 LOC284600 RNF223 PLEKHN1 LOC100132287 CPSF3L ACAP3 LOC100288175 LOC105378592 LOC107984841 MIR429 MIB2 TTLL10-AS1 MTND1P23 MIR200B FAM132A LOC105378948 HES4 LOC107985728 LOC100133331 TMEM240 FAM87B TNFRSF18 PUSL1 OR4F5 LOC100130417 LINC00115 LOC105378949
nsv950451 Chr.1:899421 - 1094520 on Build GRCh38 Deletion LOC100288175 SAMD11 C1orf159 LOC284600 RNF223 PERM1 LOC105378948 KLHL17 HES4 PLEKHN1 LOC100130417 ISG15 LOC107985728 NOC2L AGRN
nsv509035 Chr.1:891406 - 985724 on Build GRCh38 Insertion LOC284600 PERM1 SAMD11 KLHL17 PLEKHN1 LOC100130417 LOC107985728 NOC2L
esv3451859 Chr.1:969109 - 970007 on Build GRCh38 Duplication PLEKHN1
nsv428334 Chr.1:874371 - 1220569 on Build GRCh38 Gain TTLL10 LOC100288175 SAMD11 FAM41C MIR429 C1orf159 TTLL10-AS1 MIR200B LINC01342 LOC105378948 KLHL17 HES4 LOC107985728 MIR200A TNFRSF4 SDF4 TNFRSF18 LOC284600 RNF223 PERM1 PLEKHN1 LOC100130417 ISG15 NOC2L AGRN
dgv5n100 Chr.1:585989 - 1114424 on Build GRCh38 Gain LOC100288175 SAMD11 LOC107984841 FAM41C C1orf159 MTND1P23 LOC100287934 MIR6723 LOC105378948 KLHL17 HES4 LOC100288069 LOC107985728 MTND2P28 LOC100133331 LOC105378947 FAM87B OR4F16 LOC101928626 LINC01128 LOC284600 RNF223 PERM1 PLEKHN1 LOC100130417 ISG15 NOC2L LINC00115 AGRN
nsv10161 Chr.1:776731 - 1777210 on Build GRCh38 Gain+Loss TMEM88B CDK11A SAMD11 FAM41C C1orf159 ATAD3A LINC01342 LOC100287934 MMP23B MIR6808 KLHL17 MRPL20 TAS1R3 DVL1 MMP23A MIR200A CCNL2 TNFRSF4 SLC35E2B B3GALT6 CDK11B VWA1 FNDC10 SDF4 LOC148413 NADK CPTP MIR6726 LOC284600 RNF223 PLEKHN1 ISG15 SSU72 MIR6727 NOC2L SCNN1D AGRN CPSF3L ACAP3 LOC107985729 SLC35E2 AURKAIP1 TTLL10 LOC100288175 ATAD3B MIR429 MIB2 TTLL10-AS1 MIR200B FAM132A LOC105378948 HES4 LOC100288069 LOC107985728 UBE2J2 TMEM240 FAM87B ANKRD65 LOC102724312 LINC01128 TNFRSF18 PUSL1 PERM1 MXRA8 LOC100130417 LINC00115 ATAD3C
nsv517709 Chr.1:817186 - 1275912 on Build GRCh38 Gain+Loss TTLL10 LOC100288175 SAMD11 FAM41C MIR429 C1orf159 TTLL10-AS1 MIR200B LINC01342 FAM132A LOC105378948 KLHL17 HES4 LOC107985728 MIR200A TNFRSF4 UBE2J2 FAM87B B3GALT6 SDF4 LINC01128 TNFRSF18 LOC284600 RNF223 PERM1 PLEKHN1 LOC100130417 ISG15 NOC2L LINC00115 AGRN
nsv1013524 Chr.1:939510 - 1161955 on Build GRCh38 Gain LOC100288175 SAMD11 C1orf159 LINC01342 RNF223 PERM1 LOC105378948 KLHL17 HES4 PLEKHN1 ISG15 NOC2L AGRN
dgv2n67 Chr.1:877618 - 1426500 on Build GRCh38 Gain AURKAIP1 TTLL10 TMEM88B LOC100288175 SAMD11 MIR429 C1orf159 TTLL10-AS1 MIR200B LINC01342 FAM132A MIR6808 LOC105378948 KLHL17 HES4 MRPL20 LOC107985728 TAS1R3 DVL1 MIR200A CCNL2 TNFRSF4 UBE2J2 B3GALT6 ANKRD65 SDF4 LOC148413 CPTP MIR6726 TNFRSF18 PUSL1 LOC284600 RNF223 PERM1 MXRA8 PLEKHN1 LOC100130417 ISG15 MIR6727 NOC2L SCNN1D AGRN CPSF3L ACAP3
nsv544895 Chr.1:917392 - 1054900 on Build GRCh38 Loss LOC284600 PERM1 SAMD11 KLHL17 HES4 PLEKHN1 LOC100130417 ISG15 LOC107985728 NOC2L AGRN
nsv1160644 Chr.1:939652 - 1220663 on Build GRCh38 Deletion MIR200A TTLL10 TNFRSF4 LOC100288175 SAMD11 MIR429 C1orf159 TTLL10-AS1 MIR200B SDF4 LINC01342 TNFRSF18 RNF223 PERM1 LOC105378948 KLHL17 HES4 PLEKHN1 ISG15 NOC2L AGRN
nsv832980 Chr.1:848279 - 1007037 on Build GRCh38 Gain LINC01128 LOC284600 PERM1 SAMD11 FAM41C KLHL17 HES4 PLEKHN1 LOC100130417 LOC107985728 NOC2L

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Process(es)


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