Assay Details
Target Gene Details
Entrez Gene ID: | 114548 |
Gene Name: | NLR family pyrin domain containing 3 |
Gene Aliases: |
AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1 |
Location: |
Chr.1:247416156-247449108 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NLRP3 | NM_001079821.2 | 5 | 1953 | NP_001073289.1 |
NM_001127461.2 | 4 | 2595 | NP_001120933.1 | |
NM_001127462.2 | 3 | 2561 | NP_001120934.1 | |
NM_001243133.1 | 3 | 2561 | NP_001230062.1 | |
NM_004895.4 | 3 | 2561 | NP_004886.3 | |
NM_183395.2 | 3 | 2561 | NP_899632.1 | |
XM_011544048.2 | 4 | 2700 | XP_011542350.1 | |
XM_011544053.2 | 4 | 2588 | XP_011542355.1 | |
XM_011544055.2 | 4 | 2588 | XP_011542357.1 | |
XM_017000181.1 | 5 | 2177 | XP_016855670.1 | |
XM_017000182.1 | 5 | 2122 | XP_016855671.1 | |
XM_017000183.1 | 4 | 2588 | XP_016855672.1 | |
XM_017000184.1 | 4 | 2588 | XP_016855673.1 | |
AB208891.1 | 3 | 2570 | BAD92128.1 | |
AF054176.1 | 1 | 640 | AAC39910.1 | |
AF410477.1 | 3 | 2561 | AAL33908.1 | |
AF418985.2 | 3 | 1977 | AAL14640.2 | |
AF420469.1 | 4 | 1947 | AAL65136.1 | |
AF427617.1 | 3 | 2561 | AAL33911.1 | |
AF468522.1 | 3 | 1977 | AAL78632.1 | |
AK027194.1 | 3 | 1990 | ||
AK314998.1 | 5 | 1953 | ||
AY092033.1 | 3 | 1977 | AAM14669.1 | |
AY422168.1 | 3 | 1809 | AAQ98889.1 | |
BC117211.1 | 3 | 1880 | ||
BC143359.1 | 3 | 1880 | ||
BC143362.1 | 3 | 1880 | ||
BC143363.1 | 3 | 1880 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833137 | Chr.1:247274015 - 247444126 on Build GRCh38 | Gain | ZNF496 LOC107985115 NLRP3 |
esv33129 | Chr.1:246911128 - 248165533 on Build GRCh38 | Gain+Loss | OR2M1P ZNF670-ZNF695 OR14A16 OR9H1P OR11L1 VN1R5 OR2M5 OR2B11 ZNF695 MIR3916 NLRP3 C1orf229 TRIM58 ZNF124 GCSAML-AS1 OR13G1 AHCTF1 OR2L5 OR2L13 OR2L8 OR2L3 ZNF496 GCSAML OR2W5 ZNF669 OR2G3 OR2AK2 OR6F1 OR2L1P LOC107985115 OR2T8 OR1C1 OR2W3 OR2L2 ZNF670 OR2G2 OR2C3 |
nsv1011097 | Chr.1:247402897 - 247503209 on Build GRCh38 | Gain | OR2W5 OR2B11 NLRP3 |
nsv509790 | Chr.1:247311000 - 247445876 on Build GRCh38 | Insertion | ZNF496 LOC107985115 NLRP3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |