Hs00350478_cn

• Gene Symbol: TUFM
• Assay Reference Genome Location: Chr.16:28844424 on build GRCh38
• Cytoband: 16p11.2

Target Gene Details

• Entrez Gene ID: 7284
• Gene Name: Tu translation elongation factor, mitochondrial
• Gene Aliases: COXPD4, EF-TuMT, EFTU, P43
• Location: Chr.16:28842411-28859562 on Build GRCh38
• Assay Gene Location: Overlaps Intron 7 - Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TUFM	NM_003321.4			NP_003312.3
	XM_011545928.2			XP_011544230.1
	XM_017023619.1			XP_016879108.1
	BC001633.1			AAH01633.2
	BC010041.2			AAH10041.2
	L38995.1			AAB00499.1
	S75463.1			AAC60647.1
	X84694.1			CAA59169.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv4987n54	Chr.16:28824884 - 29032129 on Build GRCh38	Gain	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
esv3638348	Chr.16:28841706 - 28861977 on Build GRCh38	Gain	MIR4721 SH2B1 TUFM
esv3892826	Chr.16:28814728 - 29032129 on Build GRCh38	Gain+Loss	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
esv2758640	Chr.16:28163817 - 29139232 on Build GRCh38	Gain+Loss	NPIPB9 APOBR MIR6862-1 NUPR1 CLN3 RRN3P2 NPIPB8 CD19 TUFM LOC101928215 EIF3C NPIPB6 SGF29 SULT1A2 MIR4721 RABEP2 SH2B1 MIR6862-2 MIR4517 EIF3CL NFATC2IP ATP2A1 SBK1 ATP2A1-AS1 ATXN2L LAT IL27 XPO6 SULT1A1 SPNS1 NPIP
nsv518648	Chr.16:28826194 - 29032129 on Build GRCh38	Loss	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
nsv1059555	Chr.16:28373144 - 29195838 on Build GRCh38	Gain	LOC107984832 NPIPB9 APOBR MIR6862-1 NUPR1 CLN3 RRN3P2 NPIPB8 CD19 TUFM LOC101928215 EIF3C SGF29 SULT1A2 MIR4721 RABEP2 SH2B1 MIR6862-2 MIR4517 EIF3CL NFATC2IP ATP2A1 ATP2A1-AS1 ATXN2L LAT IL27 SULT1A1 SPNS1 NPIP
dgv502e214	Chr.16:28841240 - 28861977 on Build GRCh38	Loss	MIR4721 SH2B1 TUFM
dgv2831n100	Chr.16:28812594 - 29032542 on Build GRCh38	Gain	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
esv3570454	Chr.16:28799004 - 29032129 on Build GRCh38	Gain	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
nsv571805	Chr.16:28824174 - 29032129 on Build GRCh38	Loss	ATP2A1-AS1 ATXN2L LAT MIR4721 RABEP2 SH2B1 CD19 MIR4517 NFATC2IP SPNS1 TUFM ATP2A1
nsv1064483	Chr.16:28620264 - 28857362 on Build GRCh38	Loss	ATXN2L NPIPB9 MIR4721 SH2B1 NPIPB8 SULT1A1 MIR6862-2 TUFM EIF3C

More Information

Additional Information:

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

Panther Classification:

Molecular Function -

translation elongation factor

Gene Ontology Categories:

Process(es)

translational elongation
mitochondrial translational elongation

Function(s)

translation elongation factor activity
GTPase activity
protein binding
GTP binding
poly(A) RNA binding