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 4 - Exon 4 |
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 | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
esv3638348 | Chr.16:28841706 - 28861977 on Build GRCh38 | Gain | TUFM SH2B1 MIR4721 |
esv3892826 | Chr.16:28814728 - 29032129 on Build GRCh38 | Gain+Loss | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | IL27 ATXN2L EIF3C APOBR SBK1 ATP2A1 NPIP SH2B1 MIR4721 SGF29 RABEP2 LOC101928215 NPIPB6 NFATC2IP SPNS1 MIR6862-1 ATP2A1-AS1 SULT1A2 MIR4517 XPO6 NUPR1 TUFM CD19 NPIPB9 CLN3 LAT SULT1A1 MIR6862-2 EIF3CL NPIPB8 RRN3P2 |
nsv518648 | Chr.16:28826194 - 29032129 on Build GRCh38 | Loss | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
dgv502e214 | Chr.16:28841240 - 28861977 on Build GRCh38 | Loss | TUFM SH2B1 MIR4721 |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | IL27 ATXN2L EIF3C APOBR ATP2A1 NPIP SH2B1 MIR4721 SGF29 RABEP2 LOC101928215 LOC107984832 NFATC2IP SPNS1 MIR6862-1 ATP2A1-AS1 SULT1A2 MIR4517 NUPR1 TUFM CD19 NPIPB9 CLN3 LAT SULT1A1 MIR6862-2 EIF3CL NPIPB8 RRN3P2 |
dgv2831n100 | Chr.16:28812594 - 29032542 on Build GRCh38 | Gain | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
esv3570454 | Chr.16:28799004 - 29032129 on Build GRCh38 | Gain | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
nsv571805 | Chr.16:28824174 - 29032129 on Build GRCh38 | Loss | TUFM CD19 MIR4517 LAT NFATC2IP SPNS1 ATXN2L ATP2A1 SH2B1 MIR4721 ATP2A1-AS1 RABEP2 |
nsv1064483 | Chr.16:28620264 - 28857362 on Build GRCh38 | Loss | TUFM NPIPB9 SULT1A1 MIR6862-2 ATXN2L EIF3C SH2B1 NPIPB8 MIR4721 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |