Assay Details
Target Gene Details
Entrez Gene ID: | 25970 |
Gene Name: | SH2B adaptor protein 1 |
Gene Aliases: |
PSM, SH2B |
Location: |
Chr.16:28846600-28874213 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SH2B1 | NM_001308293.1 | NP_001295222.1 | ||
XM_017023115.1 | XP_016878604.1 | |||
AK055104.1 | ||||
DA338190.1 |
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: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TUFM | XM_017023619.1 | XP_016879108.1 |
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 | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
esv3638348 | Chr.16:28841706 - 28861977 on Build GRCh38 | Gain | SH2B1 TUFM MIR4721 |
esv3892826 | Chr.16:28814728 - 29032129 on Build GRCh38 | Gain+Loss | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
esv2758640 | Chr.16:28163817 - 29139232 on Build GRCh38 | Gain+Loss | SBK1 SPNS1 NPIPB9 SULT1A1 EIF3CL XPO6 IL27 NFATC2IP CD19 LAT MIR4517 MIR6862-1 CLN3 NPIPB6 EIF3C SULT1A2 TUFM MIR4721 ATP2A1 ATXN2L RABEP2 NUPR1 SH2B1 RRN3P2 NPIP MIR6862-2 NPIPB8 APOBR SGF29 LOC101928215 ATP2A1-AS1 |
nsv518648 | Chr.16:28826194 - 29032129 on Build GRCh38 | Loss | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
dgv502e214 | Chr.16:28841240 - 28861977 on Build GRCh38 | Loss | SH2B1 TUFM MIR4721 |
nsv1059555 | Chr.16:28373144 - 29195838 on Build GRCh38 | Gain | SPNS1 NPIPB9 SULT1A1 EIF3CL IL27 NFATC2IP CD19 LAT MIR4517 MIR6862-1 CLN3 EIF3C SULT1A2 TUFM MIR4721 ATP2A1 ATXN2L RABEP2 NUPR1 SH2B1 RRN3P2 LOC107984832 NPIP MIR6862-2 NPIPB8 APOBR SGF29 LOC101928215 ATP2A1-AS1 |
dgv2831n100 | Chr.16:28812594 - 29032542 on Build GRCh38 | Gain | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
esv3570454 | Chr.16:28799004 - 29032129 on Build GRCh38 | Gain | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
nsv571805 | Chr.16:28824174 - 29032129 on Build GRCh38 | Loss | SPNS1 SH2B1 TUFM MIR4721 NFATC2IP CD19 ATP2A1 LAT MIR4517 ATP2A1-AS1 ATXN2L RABEP2 |
nsv1064483 | Chr.16:28620264 - 28857362 on Build GRCh38 | Loss | NPIPB8 EIF3C SH2B1 NPIPB9 TUFM SULT1A1 MIR4721 MIR6862-2 ATXN2L |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |