Assay Details
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 6 - Exon 6 |
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 | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
esv3638348 | Chr.16:28841706 - 28861977 on Build GRCh38 | Gain | SH2B1 TUFM MIR4721 |
esv3892826 | Chr.16:28814728 - 29032129 on Build GRCh38 | Gain+Loss | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | SH2B1 CLN3 ATP2A1 NFATC2IP LOC101928215 EIF3C SULT1A2 NPIPB9 APOBR LAT NPIPB8 SULT1A1 MIR6862-2 XPO6 TUFM NPIPB6 NUPR1 ATXN2L MIR6862-1 ATP2A1-AS1 SPNS1 EIF3CL SGF29 MIR4517 RABEP2 CD19 IL27 NPIP RRN3P2 MIR4721 SBK1 |
nsv518648 | Chr.16:28826194 - 29032129 on Build GRCh38 | Loss | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
dgv502e214 | Chr.16:28841240 - 28861977 on Build GRCh38 | Loss | SH2B1 TUFM MIR4721 |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | SH2B1 CLN3 ATP2A1 NFATC2IP LOC101928215 EIF3C SULT1A2 NPIPB9 APOBR LAT NPIPB8 SULT1A1 MIR6862-2 TUFM NUPR1 ATXN2L MIR6862-1 ATP2A1-AS1 SPNS1 LOC107984832 EIF3CL SGF29 MIR4517 RABEP2 CD19 IL27 NPIP RRN3P2 MIR4721 |
dgv2831n100 | Chr.16:28812594 - 29032542 on Build GRCh38 | Gain | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
esv3570454 | Chr.16:28799004 - 29032129 on Build GRCh38 | Gain | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
nsv571805 | Chr.16:28824174 - 29032129 on Build GRCh38 | Loss | MIR4517 SH2B1 TUFM ATP2A1 NFATC2IP RABEP2 LAT CD19 ATXN2L ATP2A1-AS1 SPNS1 MIR4721 |
nsv1064483 | Chr.16:28620264 - 28857362 on Build GRCh38 | Loss | SH2B1 MIR6862-2 TUFM NPIPB9 NPIPB8 ATXN2L EIF3C SULT1A1 MIR4721 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |