Hs00998042_cn

• Gene Symbol: TRMT2A
• Assay Reference Genome Location: Chr.22:20112474 on build GRCh38
• Cytoband: 22q11.21

Target Gene Details

• Entrez Gene ID: 27037
• Gene Name: tRNA methyltransferase 2 homolog A
• Gene Aliases: HTF9C
• Location: Chr.22:20111866-20117305 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TRMT2A	NM_001257994.1	12	2378	NP_001244923.1
	NM_022727.5	12	2356	NP_073564.3
	NM_182984.4	13	2232	NP_892029.2
	XM_011530139.2	13	2217	XP_011528441.1
	XM_011530141.1	11	1592	XP_011528443.1
	XM_011530142.2	9	1250	XP_011528444.1
	XM_017028770.1	12	2420	XP_016884259.1
	AK025106.1	11	1752	BAB15067.1
	AK057029.1	12	2328	BAB71349.1
	BC013352.2	12	2001	AAH13352.2
	BC017184.2	13	2118	AAH17184.2
	BC108251.1	12	2036	AAI08252.1
	BX349507.2	1	571
	CA440188.1	1	626
	CR456354.1			CAG30240.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv726n67	Chr.22:20070444 - 20324465 on Build GRCh38	Gain	MIR6816 DGCR8 RANBP1 RTN4R MIR1306 LINC00896 CCDC188 LOC440792 TRMT2A ZDHHC8 MIR3618 MIR1286 LOC284865 DGCR6L
esv3647284	Chr.22:19985583 - 20137122 on Build GRCh38	Gain	MIR6816 DGCR8 RANBP1 TRMT2A MIR185 ZDHHC8 MIR3618 MIR1306 TANGO2 ARVCF
esv3893434	Chr.22:19470889 - 20343372 on Build GRCh38	Gain	LINC00895 LOC101927859 MIR1306 GNB1L LOC440792 SEPT5-GP1BB C22orf29 TRMT2A TBX1 TXNRD2 DGCR6L TANGO2 COMT GP1BB MIR6816 DGCR8 RANBP1 RTN4R MIR185 LINC00896 CCDC188 ARVCF CLDN5 CDC45 ZDHHC8 MIR4761 MIR3618 MIR1286 LOC284865 UFD1L SEPT5
esv2758825	Chr.22:20038970 - 20321924 on Build GRCh38	Loss	MIR6816 DGCR8 RANBP1 RTN4R MIR1306 LINC00896 CCDC188 LOC440792 TRMT2A ZDHHC8 MIR3618 MIR1286 LOC284865 DGCR6L TANGO2
nsv828939	Chr.22:19696032 - 20324465 on Build GRCh38	Loss	MIR1306 GNB1L LOC440792 SEPT5-GP1BB C22orf29 TRMT2A TBX1 TXNRD2 DGCR6L TANGO2 COMT GP1BB MIR6816 DGCR8 RANBP1 RTN4R MIR185 LINC00896 CCDC188 ARVCF ZDHHC8 MIR4761 MIR3618 MIR1286 LOC284865 SEPT5
nsv828938	Chr.22:19691069 - 20324465 on Build GRCh38	Gain	MIR1306 GNB1L LOC440792 SEPT5-GP1BB C22orf29 TRMT2A TBX1 TXNRD2 DGCR6L TANGO2 COMT GP1BB MIR6816 DGCR8 RANBP1 RTN4R MIR185 LINC00896 CCDC188 ARVCF ZDHHC8 MIR4761 MIR3618 MIR1286 LOC284865 SEPT5
dgv4480n100	Chr.22:20069620 - 20262667 on Build GRCh38	Gain	MIR6816 DGCR8 RANBP1 RTN4R TRMT2A ZDHHC8 MIR3618 MIR1286 LOC284865 MIR1306 LINC00896 CCDC188
nsv471183	Chr.22:20018517 - 20319470 on Build GRCh38	Loss	MIR6816 DGCR8 RANBP1 RTN4R MIR185 MIR1306 LINC00896 CCDC188 LOC440792 TRMT2A ZDHHC8 MIR3618 MIR1286 LOC284865 DGCR6L TANGO2
esv3647287	Chr.22:20112473 - 20112776 on Build GRCh38	Insertion	TRMT2A
nsv953027	Chr.22:20085378 - 20303977 on Build GRCh38	Deletion	MIR6816 DGCR8 RANBP1 RTN4R MIR1306 LINC00896 CCDC188 LOC440792 TRMT2A ZDHHC8 MIR3618 MIR1286 LOC284865
nsv834133	Chr.22:20029363 - 20176708 on Build GRCh38	Loss	MIR6816 DGCR8 RANBP1 TRMT2A MIR185 ZDHHC8 MIR3618 MIR1306 CCDC188 TANGO2
dgv7983n54	Chr.22:19762002 - 20321870 on Build GRCh38	Gain	MIR6816 DGCR8 RANBP1 RTN4R MIR185 MIR1306 LINC00896 CCDC188 GNB1L LOC440792 ARVCF C22orf29 TRMT2A TBX1 ZDHHC8 MIR4761 MIR3618 MIR1286 TXNRD2 LOC284865 DGCR6L TANGO2 COMT

More Information

Additional Information:

For this assay, SNP(s) [rs113958995] 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, Exonic, DGV Variation

Panther Classification:

Molecular Function -

RNA methyltransferase

Gene Ontology Categories:

Process(es)

RNA methylation
RNA processing

Function(s)

nucleotide binding
RNA methyltransferase activity
poly(A) RNA binding