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	LOC284600 AGRN RNF223 PLEKHN1 PERM1 SAMD11 HES4 LOC105378948 ISG15 KLHL17 LOC100288175 LOC100130417 NOC2L LOC107985728 C1orf159
nsv1142736	Chr.1:933720 - 934720 on Build GRCh38	Deletion	SAMD11
nsv482937	Chr.1:10001 - 2368561 on Build GRCh38	Loss	TMEM88B DVL1 VWA1 TNFRSF4 SLC35E2B MIR6859-2 ATAD3A NOC2L WASH7P TMEM52 FNDC10 LOC105378592 LINC00115 MXRA8 MIR1302-2 FAM87B LOC105378947 KLHL17 MIR429 TNFRSF18 LOC100288069 CPSF3L FAM41C ATAD3B LOC105378948 B3GALT6 MIR6727 MMP23A ACAP3 CCNL2 LOC100129534 LOC107984841 LOC100132287 SCNN1D PRKCZ RNF223 LOC101928626 PLEKHN1 GNB1 LOC105378589 NADK FAAP20 TMEM240 FAM132A MORN1 CDK11A SSU72 LOC100134822 LOC148413 TTLL10-AS1 LOC105378591 LOC729737 ISG15 AURKAIP1 LOC100288175 DDX11L1 LOC102724312 UBE2J2 MRPL20 GABRD LINC01128 MIB2 CALML6 OR4F5 PERM1 SLC35E2 C1orf159 CFAP74 MMP23B LOC100133331 TAS1R3 MIR200A MIR6808 SDF4 ATAD3C PUSL1 HES4 MIR200B LOC107985729 MTND1P23 LOC100130417 MIR6723 LOC107985728 LOC105378949 LOC284600 AGRN TTLL10 SKI CPTP LOC100287934 MIR6859-1 MIR6726 LOC100506504 SAMD11 OR4F29 MTND2P28 CDK11B LOC102725121 FAM138A OR4F16 ANKRD65 LINC01342
nsv544904	Chr.1:929558 - 934877 on Build GRCh38	Gain	SAMD11
nsv950451	Chr.1:899421 - 1094520 on Build GRCh38	Deletion	LOC284600 AGRN RNF223 PLEKHN1 PERM1 SAMD11 HES4 LOC105378948 ISG15 KLHL17 LOC100288175 LOC100130417 NOC2L LOC107985728 C1orf159
nsv509035	Chr.1:891406 - 985724 on Build GRCh38	Insertion	PERM1 LOC284600 SAMD11 KLHL17 LOC100130417 NOC2L LOC107985728 PLEKHN1
dgv9n54	Chr.1:925754 - 952840 on Build GRCh38	Loss	SAMD11 NOC2L
nsv428334	Chr.1:874371 - 1220569 on Build GRCh38	Gain	MIR429 TNFRSF18 MIR200A TNFRSF4 SDF4 TTLL10-AS1 FAM41C HES4 LOC105378948 ISG15 MIR200B LOC100288175 LOC100130417 NOC2L LOC107985728 LOC284600 AGRN TTLL10 RNF223 PLEKHN1 PERM1 SAMD11 KLHL17 C1orf159 LINC01342
nsv10161	Chr.1:776731 - 1777210 on Build GRCh38	Gain+Loss	TMEM88B TMEM240 DVL1 VWA1 TNFRSF4 FAM132A CDK11A SSU72 LOC148413 TTLL10-AS1 SLC35E2B ISG15 AURKAIP1 LOC100288175 LOC102724312 ATAD3A NOC2L UBE2J2 MRPL20 FNDC10 LINC01128 MIB2 LINC00115 MXRA8 PERM1 SLC35E2 FAM87B KLHL17 C1orf159 MMP23B MIR429 TAS1R3 TNFRSF18 MIR200A MIR6808 SDF4 LOC100288069 CPSF3L FAM41C ATAD3C ATAD3B PUSL1 HES4 LOC105378948 B3GALT6 MIR6727 MMP23A MIR200B LOC107985729 LOC100130417 LOC107985728 ACAP3 CCNL2 LOC284600 AGRN TTLL10 SCNN1D CPTP RNF223 LOC100287934 MIR6726 PLEKHN1 SAMD11 NADK CDK11B ANKRD65 LINC01342
dgv5n100	Chr.1:585989 - 1114424 on Build GRCh38	Gain	LOC100288069 FAM41C HES4 LOC105378948 ISG15 MTND1P23 LOC100288175 LOC100130417 MIR6723 NOC2L LOC107985728 LOC284600 LOC107984841 LINC01128 AGRN LINC00115 RNF223 LOC100287934 LOC101928626 PLEKHN1 PERM1 SAMD11 FAM87B LOC105378947 MTND2P28 KLHL17 OR4F16 C1orf159 LOC100133331
nsv517709	Chr.1:817186 - 1275912 on Build GRCh38	Gain+Loss	MIR429 TNFRSF18 MIR200A TNFRSF4 FAM132A SDF4 TTLL10-AS1 FAM41C HES4 LOC105378948 B3GALT6 ISG15 MIR200B LOC100288175 LOC100130417 NOC2L LOC107985728 UBE2J2 LOC284600 LINC01128 AGRN TTLL10 LINC00115 RNF223 PLEKHN1 PERM1 SAMD11 FAM87B KLHL17 C1orf159 LINC01342
dgv1n111	Chr.1:690090 - 939522 on Build GRCh38	Duplication	LOC284600 LOC107984841 LINC01128 LINC00115 LOC100287934 LOC100288069 FAM41C SAMD11 FAM87B OR4F16 LOC100130417 LOC107985728 LOC100133331
nsv1074938	Chr.1:933719 - 935120 on Build GRCh38	Deletion	SAMD11
dgv3n111	Chr.1:783283 - 939522 on Build GRCh38	Duplication	LOC284600 SAMD11 FAM87B LINC01128 LINC00115 LOC100130417 LOC100287934 LOC107985728 FAM41C
dgv6n54	Chr.1:917392 - 934930 on Build GRCh38	Loss	LOC284600 SAMD11 LOC100130417 LOC107985728
dgv2n67	Chr.1:877618 - 1426500 on Build GRCh38	Gain	MIR429 TAS1R3 TMEM88B TNFRSF18 DVL1 MIR200A MIR6808 TNFRSF4 FAM132A SDF4 LOC148413 CPSF3L TTLL10-AS1 PUSL1 HES4 LOC105378948 B3GALT6 MIR6727 ISG15 AURKAIP1 MIR200B LOC100288175 LOC100130417 NOC2L LOC107985728 ACAP3 CCNL2 UBE2J2 MRPL20 LOC284600 AGRN TTLL10 SCNN1D CPTP RNF223 MXRA8 MIR6726 PLEKHN1 PERM1 SAMD11 KLHL17 ANKRD65 C1orf159 LINC01342
nsv544898	Chr.1:924665 - 943937 on Build GRCh38	Gain	SAMD11 LOC107985728
nsv832980	Chr.1:848279 - 1007037 on Build GRCh38	Gain	PERM1 LOC284600 SAMD11 HES4 LINC01128 KLHL17 LOC100130417 NOC2L LOC107985728 PLEKHN1 FAM41C

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