NLRP4 (NLR family pyrin domain containing 4) - Rat Genome Database

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Gene: NLRP4 (NLR family pyrin domain containing 4) Homo sapiens
Analyze
Symbol: NLRP4
Name: NLR family pyrin domain containing 4
RGD ID: 1323147
HGNC Page HGNC:22943
Description: Enables molecular adaptor activity. Involved in negative regulation of innate immune response. Is active in cytoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cancer/testis antigen 58; CLR19.5; CT58; FLJ32126; NACHT, leucine rich repeat and PYD containing 4; NACHT, LRR and PYD containing protein 4; NACHT, LRR and PYD domains-containing protein 4; NALP4; NLR family, pyrin domain containing 4; nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4; PAAD and NACHT-containing protein 2; PAN2; PYPAF4; PYRIN and NACHT-containing protein 2; PYRIN-containing APAF1-like protein 4; ribonuclease inhibitor 2; RNH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,836,540 - 55,881,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,836,540 - 55,881,855 (+)EnsemblGRCh38hg38GRCh38
GRCh371956,347,906 - 56,393,221 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,055,199 - 61,085,033 (+)NCBINCBI36Build 36hg18NCBI36
Build 341961,055,198 - 61,085,030NCBI
Celera1953,393,092 - 53,437,580 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1952,660,110 - 52,703,873 (+)NCBIHuRef
CHM1_11956,341,517 - 56,386,632 (+)NCBICHM1_1
T2T-CHM13v2.01958,935,886 - 58,981,193 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12019269   PMID:12093792   PMID:12182447   PMID:12387869   PMID:12477932   PMID:12563287   PMID:14702039   PMID:15107016   PMID:15489334   PMID:17420470   PMID:17435760   PMID:19074885  
PMID:20403135   PMID:21209283   PMID:21873635   PMID:22388039   PMID:22928810   PMID:23376485   PMID:24871464   PMID:25403012   PMID:26344197   PMID:26407194   PMID:27692986   PMID:28486191  
PMID:29099277   PMID:30526007   PMID:34257569   PMID:34927309   PMID:35467709  


Genomics

Comparative Map Data
NLRP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381955,836,540 - 55,881,855 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1955,836,540 - 55,881,855 (+)EnsemblGRCh38hg38GRCh38
GRCh371956,347,906 - 56,393,221 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361961,055,199 - 61,085,033 (+)NCBINCBI36Build 36hg18NCBI36
Build 341961,055,198 - 61,085,030NCBI
Celera1953,393,092 - 53,437,580 (+)NCBICelera
Cytogenetic Map19q13.43NCBI
HuRef1952,660,110 - 52,703,873 (+)NCBIHuRef
CHM1_11956,341,517 - 56,386,632 (+)NCBICHM1_1
T2T-CHM13v2.01958,935,886 - 58,981,193 (+)NCBIT2T-CHM13v2.0
Nlrp4c
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3976,048,160 - 6,108,148 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl76,048,160 - 6,108,149 (+)EnsemblGRCm39 Ensembl
GRCm3876,045,161 - 6,105,149 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl76,045,161 - 6,105,150 (+)EnsemblGRCm38mm10GRCm38
MGSCv3775,996,763 - 6,056,751 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3675,668,802 - 5,708,237 (+)NCBIMGSCv36mm8
Celera75,785,993 - 5,842,151 (+)NCBICelera
Cytogenetic Map7A1NCBI
cM Map73.5NCBI
Nlrp4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8177,118,192 - 77,162,688 (-)NCBIGRCr8
mRatBN7.2168,089,321 - 68,132,429 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl168,089,321 - 68,127,521 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx173,449,039 - 73,487,237 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0181,998,792 - 82,036,990 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0175,184,310 - 75,222,512 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0171,671,575 - 71,715,241 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl171,671,575 - 71,710,420 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0173,062,798 - 73,105,491 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4166,797,942 - 66,825,101 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera168,956,212 - 68,994,400 (+)NCBICelera
Cytogenetic Map1q12NCBI
Nlrp4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955567566,454 - 592,747 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955567566,101 - 592,747 (-)NCBIChiLan1.0ChiLan1.0
NLRP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22062,120,989 - 62,167,851 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11963,910,908 - 63,957,990 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01952,873,999 - 52,904,099 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11961,672,811 - 61,702,295 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1961,672,877 - 61,702,140 (+)Ensemblpanpan1.1panPan2
LOC106145490
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244093491,582,932 - 1,671,327 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936981226,296 - 319,213 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NLRP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl660,233,255 - 60,272,047 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1660,233,209 - 60,272,247 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2655,356,741 - 55,378,842 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NLRP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1648,429,190 - 48,470,880 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl648,441,029 - 48,470,616 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660451,101,397 - 1,143,570 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in NLRP4
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 19q13.42-13.43(chr19:56212463-57191708)x3 copy number gain See cases [RCV000510179] Chr19:56212463..57191708 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 copy number gain See cases [RCV000050883] Chr19:50191219..58535818 [GRCh38]
Chr19:50694476..59047185 [GRCh37]
Chr19:55386288..63738997 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 copy number gain See cases [RCV000052925] Chr19:49907832..58557889 [GRCh38]
Chr19:50411089..59069256 [GRCh37]
Chr19:55102901..63761068 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 copy number gain See cases [RCV000052926] Chr19:51141518..58539965 [GRCh38]
Chr19:51644775..59051332 [GRCh37]
Chr19:56336587..63743144 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 copy number gain See cases [RCV000052914] Chr19:47908540..58539965 [GRCh38]
Chr19:48411797..59051332 [GRCh37]
Chr19:53103609..63743144 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 copy number gain See cases [RCV000052915] Chr19:47929575..58572206 [GRCh38]
Chr19:48432832..59083573 [GRCh37]
Chr19:53124644..63775385 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
NM_134444.4(NLRP4):c.373G>A (p.Glu125Lys) single nucleotide variant Malignant melanoma [RCV000072377] Chr19:55857766 [GRCh38]
Chr19:56369132 [GRCh37]
Chr19:61060944 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.856G>A (p.Glu286Lys) single nucleotide variant Malignant melanoma [RCV000072378] Chr19:55858249 [GRCh38]
Chr19:56369615 [GRCh37]
Chr19:61061427 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.963C>T (p.Ala321=) single nucleotide variant Malignant melanoma [RCV000072379] Chr19:55858356 [GRCh38]
Chr19:56369722 [GRCh37]
Chr19:61061534 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.2407C>T (p.Leu803Phe) single nucleotide variant Malignant melanoma [RCV000072380] Chr19:55870879 [GRCh38]
Chr19:56382245 [GRCh37]
Chr19:61074057 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.2658G>A (p.Arg886=) single nucleotide variant Malignant melanoma [RCV000072381] Chr19:55877128 [GRCh38]
Chr19:56388494 [GRCh37]
Chr19:61080306 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.1072G>A (p.Gly358Arg) single nucleotide variant Malignant melanoma [RCV000063642] Chr19:55858465 [GRCh38]
Chr19:56369831 [GRCh37]
Chr19:61061643 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.1444G>A (p.Glu482Lys) single nucleotide variant Malignant melanoma [RCV000063643] Chr19:55858837 [GRCh38]
Chr19:56370203 [GRCh37]
Chr19:61062015 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.2734G>A (p.Asp912Asn) single nucleotide variant Malignant melanoma [RCV000063644] Chr19:55878831 [GRCh38]
Chr19:56390197 [GRCh37]
Chr19:61082009 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.2908C>T (p.Leu970=) single nucleotide variant Malignant melanoma [RCV000063645] Chr19:55881510 [GRCh38]
Chr19:56392876 [GRCh37]
Chr19:61084688 [NCBI36]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.*164T>A single nucleotide variant not provided [RCV000089473] Chr19:55881751 [GRCh38]
Chr19:56393117 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.-175G>A single nucleotide variant not provided [RCV000089474] Chr19:55836825 [GRCh38]
Chr19:56348191 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.-275T>G single nucleotide variant not provided [RCV000089475] Chr19:55836725 [GRCh38]
Chr19:56348091 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.-66+6G>T single nucleotide variant not provided [RCV000089476] Chr19:55836940 [GRCh38]
Chr19:56348306 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.-66+7G>T single nucleotide variant not provided [RCV000089477] Chr19:55836941 [GRCh38]
Chr19:56348307 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.1856+50C>T single nucleotide variant not provided [RCV000089478] Chr19:55859299 [GRCh38]
Chr19:56370665 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.1857-68G>A single nucleotide variant not provided [RCV000089479] Chr19:55861318 [GRCh38]
Chr19:56372684 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2019-215T>C single nucleotide variant not provided [RCV000089480] Chr19:55861777 [GRCh38]
Chr19:56373143 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2143T>G (p.Cys715Gly) single nucleotide variant not provided [RCV000089481] Chr19:55862116 [GRCh38]
Chr19:56373482 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2178A>G (p.Lys726=) single nucleotide variant not provided [RCV000089482] Chr19:55862151 [GRCh38]
Chr19:56373517 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2187-56G>C single nucleotide variant not provided [RCV000089483] Chr19:55867653 [GRCh38]
Chr19:56379019 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2697-169A>G single nucleotide variant not provided [RCV000089484] Chr19:55878625 [GRCh38]
Chr19:56389991 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.2697-194C>G single nucleotide variant not provided [RCV000089485] Chr19:55878600 [GRCh38]
Chr19:56389966 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.446_447insA (p.Thr150fs) insertion not provided [RCV000089486] Chr19:55857839..55857840 [GRCh38]
Chr19:56369205..56369206 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.457_466del (p.Ile153fs) deletion not provided [RCV000089487] Chr19:55857849..55857858 [GRCh38]
Chr19:56369215..56369224 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.5(NLRP4):c.583G>C (p.Glu195Gln) single nucleotide variant not provided [RCV000089488] Chr19:55857976 [GRCh38]
Chr19:56369342 [GRCh37]
Chr19:19q13.43		 not provided
NM_134444.4(NLRP4):c.*283T>C single nucleotide variant not provided [RCV000089243] Chr19:55881870 [GRCh38]
Chr19:56393236 [GRCh37]
Chr19:19q13.43		 not provided
GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3 copy number gain See cases [RCV000134174] Chr19:52612432..58581203 [GRCh38]
Chr19:53115685..59092570 [GRCh37]
Chr19:57807497..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3 copy number gain See cases [RCV000134139] Chr19:52955056..58581203 [GRCh38]
Chr19:53458309..59092570 [GRCh37]
Chr19:58150121..63784382 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1 copy number loss See cases [RCV000135287] Chr19:55550939..57031576 [GRCh38]
Chr19:56062305..57542944 [GRCh37]
Chr19:60754117..62234756 [NCBI36]
Chr19:19q13.42-13.43		 likely pathogenic
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 copy number gain See cases [RCV000135843] Chr19:50152520..58581203 [GRCh38]
Chr19:50655777..59092570 [GRCh37]
Chr19:55347589..63784382 [NCBI36]
Chr19:19q13.33-13.43		 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3 copy number gain See cases [RCV000138139] Chr19:55048514..56972458 [GRCh38]
Chr19:55595687..57483826 [GRCh37]
Chr19:60251694..62175638 [NCBI36]
Chr19:19q13.42-13.43		 likely pathogenic
GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3 copy number gain See cases [RCV000142008] Chr19:52143873..58445521 [GRCh38]
Chr19:52647126..58956888 [GRCh37]
Chr19:57338938..63648700 [NCBI36]
Chr19:19q13.41-13.43		 pathogenic
GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3 copy number gain See cases [RCV000142245] Chr19:55037146..56982033 [GRCh38]
Chr19:55548514..57493401 [GRCh37]
Chr19:60240326..62185213 [NCBI36]
Chr19:19q13.42-13.43		 uncertain significance
NM_134444.5(NLRP4):c.-458G>A single nucleotide variant not provided [RCV000089242] Chr19:55836542 [GRCh38]
Chr19:56347908 [GRCh37]
Chr19:19q13.43		 not provided
GRCh37/hg19 19q13.42-13.43(chr19:56200298-57654005)x1 copy number loss Breast ductal adenocarcinoma [RCV000207313] Chr19:56200298..57654005 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
chr19:56133299..57648277 complex variant complex Breast ductal adenocarcinoma [RCV000207023] Chr19:56133299..57648277 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56286299-56368427)x3 copy number gain not provided [RCV000752788] Chr19:56286299..56368427 [GRCh37]
Chr19:19q13.42-13.43		 benign
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 copy number gain See cases [RCV000445925] Chr19:50489390..59095359 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:54344821-58956888)x3 copy number gain See cases [RCV000448186] Chr19:54344821..58956888 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
NM_134444.5(NLRP4):c.1098G>C (p.Gln366His) single nucleotide variant Inborn genetic diseases [RCV003257207] Chr19:55858491 [GRCh38]
Chr19:56369857 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
NM_134444.5(NLRP4):c.2039C>T (p.Ser680Phe) single nucleotide variant Inborn genetic diseases [RCV003286982] Chr19:55862012 [GRCh38]
Chr19:56373378 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3 copy number gain See cases [RCV000511123] Chr19:55844155..57408007 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3 copy number gain See cases [RCV000510290] Chr19:55549385..57489784 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
Single allele deletion not provided [RCV000678017] Chr19:55583239..55929986 [GRCh38]
Chr19:56094605..56441352 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1 copy number loss not provided [RCV000684089] Chr19:55779884..56896574 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3 copy number gain not provided [RCV000684095] Chr19:54196216..58759679 [GRCh37]
Chr19:19q13.42-13.43		 pathogenic
GRCh37/hg19 19q13.43(chr19:56376574-56477587)x3 copy number gain not provided [RCV000752789] Chr19:56376574..56477587 [GRCh37]
Chr19:19q13.43		 benign
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 copy number gain not provided [RCV000740208] Chr19:50740074..59097160 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
NM_134444.5(NLRP4):c.1279G>A (p.Ala427Thr) single nucleotide variant not provided [RCV000970804] Chr19:55858672 [GRCh38]
Chr19:56370038 [GRCh37]
Chr19:19q13.43		 likely benign
NM_134444.5(NLRP4):c.2575G>A (p.Ala859Thr) single nucleotide variant not provided [RCV000897693] Chr19:55877045 [GRCh38]
Chr19:56388411 [GRCh37]
Chr19:19q13.43		 benign
NM_134444.5(NLRP4):c.748G>A (p.Asp250Asn) single nucleotide variant Inborn genetic diseases [RCV003311338] Chr19:55858141 [GRCh38]
Chr19:56369507 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1057C>G (p.Gln353Glu) single nucleotide variant Inborn genetic diseases [RCV003271335] Chr19:55858450 [GRCh38]
Chr19:56369816 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.43(chr19:56309732-56393350)x1 copy number loss not provided [RCV000849228] Chr19:56309732..56393350 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2524T>G (p.Cys842Gly) single nucleotide variant Inborn genetic diseases [RCV003271390] Chr19:55870996 [GRCh38]
Chr19:56382362 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2337G>A (p.Thr779=) single nucleotide variant not provided [RCV000889286] Chr19:55867859 [GRCh38]
Chr19:56379225 [GRCh37]
Chr19:19q13.43		 benign
GRCh37/hg19 19q13.43(chr19:56375683-56985884)x3 copy number gain not provided [RCV001007061] Chr19:56375683..56985884 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3 copy number gain not provided [RCV001259948] Chr19:54334195..56434037 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56273044-56374621)x1 copy number loss not provided [RCV001259949] Chr19:56273044..56374621 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.43(chr19:56358060-57007128)x3 copy number gain not provided [RCV001259952] Chr19:56358060..57007128 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 copy number gain not provided [RCV001259944] Chr19:48463931..57095254 [GRCh37]
Chr19:19q13.33-13.43		 pathogenic
GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1 copy number loss not provided [RCV001834407] Chr19:55247893..56503347 [GRCh37]
Chr19:19q13.42-13.43		 likely pathogenic
NM_134444.5(NLRP4):c.535C>T (p.Arg179Trp) single nucleotide variant Inborn genetic diseases [RCV003295612] Chr19:55857928 [GRCh38]
Chr19:56369294 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.43(chr19:56332200-57126728) copy number gain not specified [RCV002052691] Chr19:56332200..57126728 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1 copy number loss not provided [RCV002279751] Chr19:55434660..56463734 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.42-13.43(chr19:56286281-56395259)x1 copy number loss not provided [RCV002472684] Chr19:56286281..56395259 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
GRCh37/hg19 19q13.43(chr19:56332374-56796637)x3 copy number gain not provided [RCV002472859] Chr19:56332374..56796637 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1258C>T (p.Arg420Trp) single nucleotide variant Inborn genetic diseases [RCV002968572] Chr19:55858651 [GRCh38]
Chr19:56370017 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2305C>T (p.Leu769Phe) single nucleotide variant Inborn genetic diseases [RCV002749841] Chr19:55867827 [GRCh38]
Chr19:56379193 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2003G>A (p.Arg668His) single nucleotide variant Inborn genetic diseases [RCV002968892] Chr19:55861532 [GRCh38]
Chr19:56372898 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.211A>G (p.Ile71Val) single nucleotide variant Inborn genetic diseases [RCV002749048] Chr19:55852291 [GRCh38]
Chr19:56363657 [GRCh37]
Chr19:19q13.43		 likely benign
NM_134444.5(NLRP4):c.2809G>A (p.Gly937Arg) single nucleotide variant Inborn genetic diseases [RCV002793865] Chr19:55878906 [GRCh38]
Chr19:56390272 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.987A>C (p.Arg329Ser) single nucleotide variant Inborn genetic diseases [RCV002707080] Chr19:55858380 [GRCh38]
Chr19:56369746 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.743G>A (p.Cys248Tyr) single nucleotide variant Inborn genetic diseases [RCV002798095] Chr19:55858136 [GRCh38]
Chr19:56369502 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1976G>A (p.Cys659Tyr) single nucleotide variant Inborn genetic diseases [RCV002884394] Chr19:55861505 [GRCh38]
Chr19:56372871 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1125C>G (p.Phe375Leu) single nucleotide variant Inborn genetic diseases [RCV002845062] Chr19:55858518 [GRCh38]
Chr19:56369884 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1868G>C (p.Ser623Thr) single nucleotide variant Inborn genetic diseases [RCV002737872] Chr19:55861397 [GRCh38]
Chr19:56372763 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2467G>A (p.Gly823Arg) single nucleotide variant Inborn genetic diseases [RCV002911196] Chr19:55870939 [GRCh38]
Chr19:56382305 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2414G>A (p.Arg805His) single nucleotide variant Inborn genetic diseases [RCV002782356] Chr19:55870886 [GRCh38]
Chr19:56382252 [GRCh37]
Chr19:19q13.43		 likely benign
NM_134444.5(NLRP4):c.2876A>C (p.Lys959Thr) single nucleotide variant Inborn genetic diseases [RCV002782405] Chr19:55881478 [GRCh38]
Chr19:56392844 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1489A>G (p.Ile497Val) single nucleotide variant Inborn genetic diseases [RCV002645378] Chr19:55858882 [GRCh38]
Chr19:56370248 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1357G>A (p.Val453Met) single nucleotide variant Inborn genetic diseases [RCV002983773] Chr19:55858750 [GRCh38]
Chr19:56370116 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.69C>G (p.Phe23Leu) single nucleotide variant Inborn genetic diseases [RCV002916662] Chr19:55852149 [GRCh38]
Chr19:56363515 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2428C>T (p.Arg810Cys) single nucleotide variant Inborn genetic diseases [RCV002764583] Chr19:55870900 [GRCh38]
Chr19:56382266 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.721A>C (p.Asn241His) single nucleotide variant Inborn genetic diseases [RCV002742103] Chr19:55858114 [GRCh38]
Chr19:56369480 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.70A>G (p.Arg24Gly) single nucleotide variant Inborn genetic diseases [RCV002743424] Chr19:55852150 [GRCh38]
Chr19:56363516 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2253G>C (p.Lys751Asn) single nucleotide variant Inborn genetic diseases [RCV002954650] Chr19:55867775 [GRCh38]
Chr19:56379141 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.131G>T (p.Trp44Leu) single nucleotide variant Inborn genetic diseases [RCV002892410] Chr19:55852211 [GRCh38]
Chr19:56363577 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.898C>T (p.Arg300Trp) single nucleotide variant Inborn genetic diseases [RCV002803253] Chr19:55858291 [GRCh38]
Chr19:56369657 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2659G>T (p.Ala887Ser) single nucleotide variant Inborn genetic diseases [RCV002875285] Chr19:55877129 [GRCh38]
Chr19:56388495 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.991A>C (p.Ser331Arg) single nucleotide variant Inborn genetic diseases [RCV002673701] Chr19:55858384 [GRCh38]
Chr19:56369750 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.812C>T (p.Pro271Leu) single nucleotide variant Inborn genetic diseases [RCV002769000] Chr19:55858205 [GRCh38]
Chr19:56369571 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2740G>T (p.Ala914Ser) single nucleotide variant Inborn genetic diseases [RCV002703075] Chr19:55878837 [GRCh38]
Chr19:56390203 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1261A>G (p.Arg421Gly) single nucleotide variant Inborn genetic diseases [RCV002769687] Chr19:55858654 [GRCh38]
Chr19:56370020 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1819C>G (p.Gln607Glu) single nucleotide variant Inborn genetic diseases [RCV002719923] Chr19:55859212 [GRCh38]
Chr19:56370578 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.384G>T (p.Lys128Asn) single nucleotide variant Inborn genetic diseases [RCV002648499] Chr19:55857777 [GRCh38]
Chr19:56369143 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1841A>G (p.Asp614Gly) single nucleotide variant Inborn genetic diseases [RCV002675049] Chr19:55859234 [GRCh38]
Chr19:56370600 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.730G>A (p.Asp244Asn) single nucleotide variant Inborn genetic diseases [RCV002655827] Chr19:55858123 [GRCh38]
Chr19:56369489 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.786C>G (p.Ser262Arg) single nucleotide variant Inborn genetic diseases [RCV003205225] Chr19:55858179 [GRCh38]
Chr19:56369545 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.754A>G (p.Met252Val) single nucleotide variant Inborn genetic diseases [RCV003200541] Chr19:55858147 [GRCh38]
Chr19:56369513 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.761A>C (p.Lys254Thr) single nucleotide variant Inborn genetic diseases [RCV003181192] Chr19:55858154 [GRCh38]
Chr19:56369520 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2852C>T (p.Ala951Val) single nucleotide variant Inborn genetic diseases [RCV003219744] Chr19:55878949 [GRCh38]
Chr19:56390315 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.179T>A (p.Ile60Asn) single nucleotide variant Inborn genetic diseases [RCV003173011] Chr19:55852259 [GRCh38]
Chr19:56363625 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2116C>T (p.Leu706Phe) single nucleotide variant Inborn genetic diseases [RCV003204614] Chr19:55862089 [GRCh38]
Chr19:56373455 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.137A>T (p.Glu46Val) single nucleotide variant Inborn genetic diseases [RCV003211558] Chr19:55852217 [GRCh38]
Chr19:56363583 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.525C>G (p.Asn175Lys) single nucleotide variant Inborn genetic diseases [RCV003212398] Chr19:55857918 [GRCh38]
Chr19:56369284 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2429G>A (p.Arg810His) single nucleotide variant Inborn genetic diseases [RCV003189995] Chr19:55870901 [GRCh38]
Chr19:56382267 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.2449A>C (p.Asn817His) single nucleotide variant Inborn genetic diseases [RCV003308581] Chr19:55870921 [GRCh38]
Chr19:56382287 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1160G>A (p.Gly387Asp) single nucleotide variant Inborn genetic diseases [RCV003341002] Chr19:55858553 [GRCh38]
Chr19:56369919 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.1063A>T (p.Met355Leu) single nucleotide variant Inborn genetic diseases [RCV003379226] Chr19:55858456 [GRCh38]
Chr19:56369822 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.422C>T (p.Pro141Leu) single nucleotide variant Inborn genetic diseases [RCV003383229] Chr19:55857815 [GRCh38]
Chr19:56369181 [GRCh37]
Chr19:19q13.43		 uncertain significance
NM_134444.5(NLRP4):c.445C>T (p.Arg149Cys) single nucleotide variant Inborn genetic diseases [RCV003347848] Chr19:55857838 [GRCh38]
Chr19:56369204 [GRCh37]
Chr19:19q13.43		 uncertain significance
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 copy number gain not provided [RCV003485200] Chr19:49625130..57647352 [GRCh37]
Chr19:19q13.33-13.43		 likely pathogenic
NM_134444.5(NLRP4):c.2913G>A (p.Thr971=) single nucleotide variant not provided [RCV003425447] Chr19:55881515 [GRCh38]
Chr19:56392881 [GRCh37]
Chr19:19q13.43		 likely benign
NM_134444.5(NLRP4):c.326G>A (p.Arg109His) single nucleotide variant not provided [RCV003415462] Chr19:55857719 [GRCh38]
Chr19:56369085 [GRCh37]
Chr19:19q13.43		 likely benign
NM_134444.5(NLRP4):c.2739C>G (p.Leu913=) single nucleotide variant not provided [RCV003415463] Chr19:55878836 [GRCh38]
Chr19:56390202 [GRCh37]
Chr19:19q13.43		 likely benign
GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1 copy number loss not specified [RCV003986104] Chr19:56080158..57672397 [GRCh37]
Chr19:19q13.42-13.43		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:730
Count of miRNA genes:259
Interacting mature miRNAs:273
Transcripts:ENST00000301295, ENST00000346986, ENST00000587464, ENST00000587891, ENST00000589437
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH92203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371956,392,973 - 56,393,095UniSTSGRCh37
Build 361961,084,785 - 61,084,907RGDNCBI36
Celera1953,437,332 - 53,437,454RGD
Cytogenetic Map19q13.43UniSTS
HuRef1952,703,625 - 52,703,747UniSTS
GeneMap99-GB4 RH Map19289.56UniSTS
G31875  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.43UniSTS
HuRef1952,665,583 - 52,667,076UniSTS
HuRef1723,833,376 - 23,834,529UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 54 3 105 3 1
Low 18 1 20 5 260 5 5 5 81 3 317 33 1
Below cutoff 754 1161 577 175 883 79 1739 720 1951 89 350 611 97 373 1183

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_052802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017026345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054319921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF442488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF479747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF482706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY072792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC021272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE302040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU632773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301295   ⟹   ENSP00000301295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,836,540 - 55,881,855 (+)Ensembl
RefSeq Acc Id: ENST00000587464   ⟹   ENSP00000468496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,836,895 - 55,857,860 (+)Ensembl
RefSeq Acc Id: ENST00000587891   ⟹   ENSP00000465463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,857,445 - 55,881,854 (+)Ensembl
RefSeq Acc Id: ENST00000589437   ⟹   ENSP00000468754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1955,858,697 - 55,881,854 (+)Ensembl
RefSeq Acc Id: NM_134444   ⟹   NP_604393
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,836,540 - 55,881,855 (+)NCBI
GRCh371956,347,944 - 56,393,221 (+)RGD
Build 361961,055,199 - 61,085,033 (+)NCBI Archive
Celera1953,393,092 - 53,437,580 (+)RGD
HuRef1952,660,110 - 52,703,873 (+)ENTREZGENE
CHM1_11956,341,517 - 56,386,632 (+)NCBI
T2T-CHM13v2.01958,935,886 - 58,981,193 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026344   ⟹   XP_016881833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,852,016 - 55,881,855 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017026345   ⟹   XP_016881834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,852,016 - 55,881,855 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054319920   ⟹   XP_054175895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01958,951,338 - 58,981,193 (+)NCBI
RefSeq Acc Id: XM_054319921   ⟹   XP_054175896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01958,951,338 - 58,981,193 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_604393   ⟸   NM_134444
- UniProtKB: Q86W87 (UniProtKB/Swiss-Prot),   Q96AY6 (UniProtKB/Swiss-Prot),   Q96MN2 (UniProtKB/Swiss-Prot),   B2RCA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881834   ⟸   XM_017026345
- Peptide Label: isoform X2
- UniProtKB: B2RCA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881833   ⟸   XM_017026344
- Peptide Label: isoform X1
- UniProtKB: B2RCA1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000468496   ⟸   ENST00000587464
RefSeq Acc Id: ENSP00000465463   ⟸   ENST00000587891
RefSeq Acc Id: ENSP00000468754   ⟸   ENST00000589437
RefSeq Acc Id: ENSP00000301295   ⟸   ENST00000301295
RefSeq Acc Id: XP_054175896   ⟸   XM_054319921
- Peptide Label: isoform X2
- UniProtKB: B2RCA1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054175895   ⟸   XM_054319920
- Peptide Label: isoform X1
- UniProtKB: B2RCA1 (UniProtKB/TrEMBL)
Protein Domains
NACHT   NACHT LRR and PYD   Pyrin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96MN2-F1-model_v2 AlphaFold Q96MN2 1-994 view protein structure

Promoters
RGD ID:13205803
Promoter ID:EPDNEW_H26482
Type:multiple initiation site
Name:NLRP4_2
Description:NLR family pyrin domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26484  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,836,540 - 55,836,600EPDNEW
RGD ID:13205807
Promoter ID:EPDNEW_H26484
Type:single initiation site
Name:NLRP4_1
Description:NLR family pyrin domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26482  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381955,849,369 - 55,849,429EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:22943 AgrOrtholog
COSMIC NLRP4 COSMIC
Ensembl Genes ENSG00000160505 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301295 ENTREZGENE
  ENST00000301295.11 UniProtKB/Swiss-Prot
  ENST00000587464.1 UniProtKB/TrEMBL
  ENST00000587891.5 UniProtKB/Swiss-Prot
  ENST00000589437.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000160505 GTEx
HGNC ID HGNC:22943 ENTREZGENE
Human Proteome Map NLRP4 Human Proteome Map
InterPro DAPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DEATH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLRC_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOD2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:147945 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 147945 ENTREZGENE
OMIM 609645 OMIM
PANTHER NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT, LRR AND PYD DOMAINS-CONTAINING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NLRC4_HD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NOD2_WH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162397947 PharmGKB
PROSITE DAPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_RI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PYRIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RCA1 ENTREZGENE, UniProtKB/TrEMBL
  K7ES09_HUMAN UniProtKB/TrEMBL
  K7ESK5_HUMAN UniProtKB/TrEMBL
  NALP4_HUMAN UniProtKB/Swiss-Prot
  Q86W87 ENTREZGENE
  Q96AY6 ENTREZGENE
  Q96MN2 ENTREZGENE
UniProt Secondary Q86W87 UniProtKB/Swiss-Prot
  Q96AY6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 NLRP4  NLR family pyrin domain containing 4  NLRP4  NLR family, pyrin domain containing 4  Symbol and/or name change 5135510 APPROVED