Assay Details
Target Gene Details
Entrez Gene ID: | 7536 |
Gene Name: | splicing factor 1 |
Gene Aliases: |
BBP, D11S636, MBBP, ZCCHC25, ZFM1, ZNF162 |
Location: |
Chr.11:64764604-64779043 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SF1 | NM_004630.3 | 1 | 191 | NP_004621.2 |
NM_201995.2 | 1 | 191 | NP_973724.1 | |
NM_201997.2 | 1 | 191 | NP_973726.2 | |
NM_201998.2 | 1 | 191 | NP_973727.1 | |
NR_033649.1 | 1 | 191 | ||
NR_033650.1 | 1 | 191 | ||
XM_017018249.1 | 1 | 390 | XP_016873738.1 | |
XM_017018250.1 | 1 | 116 | XP_016873739.1 | |
AK301803.1 | 1 | 116 | ||
BC020217.1 | 1 | 90 | AAH20217.1 | |
D26120.1 | 1 | 121 | BAA05116.1 | |
D26121.1 | 1 | 121 | BAA05118.1 | |
DC368015.1 | 1 | 147 | ||
DC370979.1 | 1 | 191 | ||
L49345.1 | 1 | 77 | AAB03514.1 | |
L49380.1 | 1 | 77 | AAB04033.1 | |
Y08766.1 | CAA70019.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv528506 | Chr.11:64577976 - 64933558 on Build GRCh38 | Loss | MIR6750 RASGRP2 NRXN2 MIR194-2 MEN1 PPP2R5B MIR194-2HG CDC42BPG EHD1 SF1 MIR192 ATG2A SLC22A12 MAP4K2 PYGM MIR6749 |
nsv469962 | Chr.11:64759608 - 64854101 on Build GRCh38 | Loss | CDC42BPG EHD1 SF1 MAP4K2 PYGM MEN1 |
dgv225n67 | Chr.11:64770620 - 64783455 on Build GRCh38 | Gain | SF1 |
dgv1965n54 | Chr.11:64566642 - 64806117 on Build GRCh38 | Loss | RASGRP2 NRXN2 SF1 SLC22A11 SLC22A12 MAP4K2 PYGM MEN1 |
nsv951013 | Chr.11:64777329 - 64847128 on Build GRCh38 | Deletion | CDC42BPG SF1 MAP4K2 MEN1 |
dgv153n27 | Chr.11:64709578 - 64817487 on Build GRCh38 | Loss | RASGRP2 NRXN2 SF1 MAP4K2 PYGM MEN1 |
nsv832189 | Chr.11:64719711 - 64852727 on Build GRCh38 | Loss | CDC42BPG EHD1 RASGRP2 NRXN2 SF1 MAP4K2 PYGM MEN1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |