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 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 |