Hs03366442_cn

• Gene Symbol: SAMD11
• Assay Reference Genome Location: Chr.1:933685 on build GRCh38
• Cytoband: 1p36.33

Target Gene Details

• Entrez Gene ID: 148398
• Gene Name: sterile alpha motif domain containing 11
• Gene Aliases: MRS
• Location: Chr.1:925741-944581 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SAMD11	NM_152486.2			NP_689699.2
	CN293867.1
	CN342795.1
	JX093066.1
	JX093067.1
	JX093068.1
	JX093069.1
	JX093070.1
	JX093071.1
	JX093072.1
	JX093073.1
	JX093074.1
	JX093075.1
	JX093076.1
	JX093077.1
	JX093078.1
	JX093079.1
	JX093080.1
	JX093081.1
	JX093082.1
	JX093083.1
	JX093084.1
	JX093085.1
	JX093086.1
	JX093087.1
	JX093088.1
	JX093089.1
	JX093090.1
	JX093091.1
	JX093092.1
	JX093093.1
	JX093094.1
	JX093095.1
	JX093096.1
	JX093097.1
	JX093098.1
	JX093099.1
	JX093100.1
	JX093101.1
	JX093102.1
	JX093103.1
	JX093104.1
	JX093105.1
	JX093106.1
	JX093107.1
	JX093108.1
	JX093109.1
	JX093110.1

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	LOC107985728 LOC284600 ISG15 PERM1 RNF223 SAMD11 C1orf159 LOC100130417 LOC105378948 PLEKHN1 HES4 AGRN LOC100288175 NOC2L KLHL17
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	SKI LINC00115 LOC100133331 ATAD3A OR4F29 ANKRD65 SAMD11 LOC729737 LOC105378947 MIB2 LOC105378948 MIR1302-2 CALML6 LOC100287934 MTND1P23 MMP23A MXRA8 FAM87B LOC105378591 MORN1 HES4 LOC100288069 LOC100129534 KLHL17 B3GALT6 MRPL20 LOC102724312 CDK11B FAM132A C1orf159 MIR6808 LOC148413 SLC35E2B GABRD CPTP TMEM240 MIR6859-1 FAAP20 DDX11L1 UBE2J2 LOC100506504 GNB1 SCNN1D CPSF3L TMEM52 LOC107985729 WASH7P TNFRSF18 AURKAIP1 DVL1 LOC107985728 MTND2P28 LOC105378592 ISG15 NADK MIR6859-2 PUSL1 RNF223 LOC100130417 FNDC10 LOC105378949 LOC105378589 LOC284600 OR4F5 TTLL10 TAS1R3 PRKCZ OR4F16 PLEKHN1 LOC100132287 CFAP74 MIR429 MMP23B SLC35E2 SSU72 FAM138A LOC101928626 MIR6723 LINC01128 CCNL2 LINC01342 MIR6726 PERM1 TMEM88B SDF4 AGRN ATAD3C LOC100134822 ACAP3 MIR200A TTLL10-AS1 MIR6727 MIR200B CDK11A LOC107984841 VWA1 LOC102725121 LOC100288175 TNFRSF4 NOC2L FAM41C ATAD3B
nsv1142736	Chr.1:933720 - 934720 on Build GRCh38	Deletion	SAMD11
dgv10n54	Chr.1:929558 - 935265 on Build GRCh38	Gain+Loss	SAMD11
nsv950451	Chr.1:899421 - 1094520 on Build GRCh38	Deletion	LOC107985728 LOC284600 ISG15 PERM1 RNF223 SAMD11 C1orf159 LOC100130417 LOC105378948 PLEKHN1 HES4 AGRN LOC100288175 NOC2L KLHL17
nsv509035	Chr.1:891406 - 985724 on Build GRCh38	Insertion	PERM1 SAMD11 LOC107985728 LOC100130417 PLEKHN1 LOC284600 NOC2L KLHL17
dgv8n54	Chr.1:925754 - 943937 on Build GRCh38	Loss	SAMD11
nsv428334	Chr.1:874371 - 1220569 on Build GRCh38	Gain	TNFRSF18 LOC107985728 ISG15 LINC01342 PERM1 RNF223 SAMD11 C1orf159 SDF4 LOC100130417 LOC105378948 AGRN MIR200A TTLL10-AS1 LOC284600 MIR200B TTLL10 PLEKHN1 MIR429 HES4 LOC100288175 TNFRSF4 NOC2L FAM41C KLHL17
dgv5n100	Chr.1:585989 - 1114424 on Build GRCh38	Gain	LINC00115 LOC100133331 LOC107985728 LOC101928626 MIR6723 MTND2P28 LINC01128 ISG15 PERM1 RNF223 SAMD11 C1orf159 LOC105378947 LOC100130417 LOC105378948 AGRN LOC100287934 LOC284600 MTND1P23 LOC107984841 FAM87B OR4F16 PLEKHN1 HES4 LOC100288069 LOC100288175 NOC2L FAM41C KLHL17
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	TNFRSF18 LINC00115 AURKAIP1 DVL1 ATAD3A LOC107985728 ISG15 NADK ANKRD65 PUSL1 RNF223 SAMD11 MIB2 LOC100130417 LOC105378948 FNDC10 LOC100287934 LOC284600 MMP23A MXRA8 TTLL10 TAS1R3 FAM87B PLEKHN1 MIR429 HES4 LOC100288069 KLHL17 MMP23B B3GALT6 SLC35E2 SSU72 MRPL20 LINC01128 LOC102724312 CCNL2 CDK11B LINC01342 MIR6726 FAM132A PERM1 TMEM88B C1orf159 SDF4 MIR6808 AGRN LOC148413 ATAD3C SLC35E2B ACAP3 CPTP MIR200A TTLL10-AS1 MIR6727 TMEM240 MIR200B CDK11A VWA1 UBE2J2 SCNN1D CPSF3L LOC100288175 TNFRSF4 NOC2L FAM41C ATAD3B LOC107985729
dgv1n111	Chr.1:690090 - 939522 on Build GRCh38	Duplication	LINC00115 LOC100133331 LOC100287934 LOC107985728 LINC01128 LOC284600 LOC107984841 SAMD11 FAM87B OR4F16 LOC100130417 LOC100288069 FAM41C
nsv517709	Chr.1:817186 - 1275912 on Build GRCh38	Gain+Loss	TNFRSF18 LINC00115 LOC107985728 LINC01128 ISG15 LINC01342 FAM132A PERM1 RNF223 SAMD11 C1orf159 SDF4 LOC100130417 LOC105378948 AGRN MIR200A TTLL10-AS1 LOC284600 MIR200B TTLL10 UBE2J2 FAM87B PLEKHN1 MIR429 HES4 LOC100288175 TNFRSF4 NOC2L FAM41C KLHL17 B3GALT6
nsv1074938	Chr.1:933719 - 935120 on Build GRCh38	Deletion	SAMD11
dgv3n111	Chr.1:783283 - 939522 on Build GRCh38	Duplication	LINC00115 SAMD11 FAM87B LOC100287934 LOC107985728 LOC100130417 LINC01128 LOC284600 FAM41C
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	TNFRSF18 AURKAIP1 DVL1 LOC107985728 MRPL20 CCNL2 ISG15 LINC01342 ANKRD65 PUSL1 MIR6726 FAM132A PERM1 TMEM88B RNF223 SAMD11 C1orf159 SDF4 LOC100130417 MIR6808 LOC105378948 AGRN LOC148413 ACAP3 CPTP MIR200A TTLL10-AS1 MIR6727 LOC284600 MIR200B MXRA8 TTLL10 TAS1R3 UBE2J2 PLEKHN1 SCNN1D CPSF3L MIR429 HES4 LOC100288175 TNFRSF4 NOC2L KLHL17 B3GALT6
nsv544895	Chr.1:917392 - 1054900 on Build GRCh38	Loss	PERM1 SAMD11 LOC107985728 LOC100130417 PLEKHN1 HES4 LOC284600 AGRN ISG15 NOC2L KLHL17
nsv832980	Chr.1:848279 - 1007037 on Build GRCh38	Gain	PERM1 SAMD11 LOC107985728 LOC100130417 PLEKHN1 HES4 LINC01128 LOC284600 NOC2L FAM41C KLHL17
nsv544897	Chr.1:924665 - 934930 on Build GRCh38	Gain+Loss	SAMD11 LOC107985728

More Information

Additional Information:

For this assay, SNP(s) [rs115552829,rs116296342] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

chromatin/chromatin-binding, or -regulatory protein