Assay Details
Target Gene Details
Entrez Gene ID: | 101927824 |
Gene Name: | translation initiation factor IF-2-like |
Gene Aliases: |
- |
Location: |
Chr.10:3052510-3069273 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LOC101927824 | XM_011519779.1 | 1 | 641 | XP_011518081.1 |
XM_011519781.1 | 1 | 641 | XP_011518083.1 | |
XM_017017013.1 | 1 | 641 | XP_016872502.1 |
Target Gene Details
Entrez Gene ID: | 5214 |
Gene Name: | phosphofructokinase, platelet |
Gene Aliases: |
ATP-PFK, PFK-C, PFK-P, PFKF |
Location: |
Chr.10:3067475-3136805 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 2 - Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PFKP | NM_001242339.1 | NP_001229268.1 | ||
NM_001323067.1 | NP_001309996.1 | |||
NM_001323068.1 | NP_001309997.1 | |||
NM_001323069.1 | NP_001309998.1 | |||
NM_001323071.1 | NP_001310000.1 | |||
NM_001323072.1 | NP_001310001.1 | |||
NM_002627.4 | NP_002618.1 | |||
XM_005252465.4 | XP_005252522.1 | |||
XM_005252466.4 | XP_005252523.1 | |||
AK092597.1 | ||||
AK291841.1 | ||||
BC002536.1 | AAH02536.1 | |||
BC029138.1 | AAH29138.1 | |||
D25328.1 | BAA04998.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv549814 | Chr.10:3055020 - 3170233 on Build GRCh38 | Loss | PFKP PITRM1-AS1 LOC101927824 PITRM1 SNORD142 |
nsv8595 | Chr.10:3066770 - 3070337 on Build GRCh38 | Gain | PFKP LOC101927824 |
dgv932n54 | Chr.10:2382612 - 3253481 on Build GRCh38 | Gain | LOC105376351 LOC107983989 PFKP PITRM1-AS1 LOC101927824 PITRM1 SNORD142 LOC105376353 |
esv2730995 | Chr.10:2770220 - 3706473 on Build GRCh38 | Deletion | PFKP PITRM1-AS1 LOC105376501 LOC101927824 LOC105376360 PITRM1 SNORD142 LOC105376353 |
nsv428229 | Chr.10:2618610 - 3156581 on Build GRCh38 | Gain | PFKP PITRM1-AS1 LOC101927824 PITRM1 SNORD142 |
nsv951237 | Chr.10:3063409 - 3069608 on Build GRCh38 | Deletion | PFKP LOC101927824 |
esv2760124 | Chr.10:2641047 - 3094525 on Build GRCh38 | Gain | PFKP LOC101927824 |
nsv517630 | Chr.10:2632486 - 3097509 on Build GRCh38 | Gain+Loss | PFKP LOC101927824 |
nsv470913 | Chr.10:3052993 - 3125271 on Build GRCh38 | Loss | PFKP LOC101927824 |
nsv549810 | Chr.10:3035272 - 3691194 on Build GRCh38 | Gain | PFKP PITRM1-AS1 LOC105376501 LOC101927824 LOC105376360 PITRM1 SNORD142 LOC105376353 |
esv34832 | Chr.10:2638872 - 3091456 on Build GRCh38 | Gain | PFKP LOC101927824 |
dgv933n54 | Chr.10:2644284 - 3091456 on Build GRCh38 | Gain | PFKP LOC101927824 |
nsv470912 | Chr.10:2650464 - 3091456 on Build GRCh38 | Gain | PFKP LOC101927824 |
esv26266 | Chr.10:2646665 - 3092022 on Build GRCh38 | Gain+Loss | PFKP LOC101927824 |
dgv660n100 | Chr.10:2641472 - 3092489 on Build GRCh38 | Gain | PFKP LOC101927824 |
dgv935n54 | Chr.10:3044294 - 3125271 on Build GRCh38 | Loss | PFKP LOC101927824 |
esv3622141 | Chr.10:2646620 - 3092104 on Build GRCh38 | Gain | PFKP LOC101927824 |
nsv825215 | Chr.10:3058658 - 3099236 on Build GRCh38 | Gain | PFKP LOC101927824 |
More Information
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |