NOD1 (nucleotide binding oligomerization domain containing 1) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: NOD1 (nucleotide binding oligomerization domain containing 1) Homo sapiens
Analyze
Symbol: NOD1
Name: nucleotide binding oligomerization domain containing 1
RGD ID: 1344653
HGNC Page HGNC:16390
Description: Enables several functions, including CARD domain binding activity; peptidoglycan binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to muramyl dipeptide; nucleotide-binding activity oligomerization domain containing 1 signaling pathway; and response to bacterium. Acts upstream of or within positive regulation of canonical NF-kappaB signal transduction. Located in basolateral plasma membrane and cytosol. Is active in plasma membrane. Implicated in asthma. Biomarker of rhinitis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CARD4; caspase recruitment domain family, member 4; caspase recruitment domain-containing protein 4; CLR7.1; hNod1; NLR family, CARD domain containing 1; NLRC1; nucleotide-binding oligomerization domain containing 1; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1; nucleotide-binding oligomerization domain-containing protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,424,527 - 30,478,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,424,527 - 30,478,784 (-)EnsemblGRCh38hg38GRCh38
GRCh37730,464,143 - 30,518,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,430,675 - 30,484,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 34730,237,389 - 30,291,505NCBI
Celera730,453,464 - 30,507,713 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,346,423 - 30,400,669 (-)NCBIHuRef
CHM1_1730,464,171 - 30,518,245 (-)NCBICHM1_1
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2730,513,913 - 30,568,158 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA,TAS)
cellular response to muramyl dipeptide  (IMP)
defense response  (TAS)
defense response to bacterium  (IDA)
defense response to Gram-negative bacterium  (IDA)
defense response to Gram-positive bacterium  (IEA,ISO)
detection of bacterium  (IDA)
detection of biotic stimulus  (TAS)
ERK1 and ERK2 cascade  (IEA,ISO)
inflammatory response  (TAS)
innate immune response  (IEA)
intracellular signal transduction  (IBA,IDA)
JNK cascade  (IEA,ISO)
nucleotide-binding oligomerization domain containing 1 signaling pathway  (IDA,IEA)
pattern recognition receptor signaling pathway  (IDA)
positive regulation of apoptotic process  (IEA,ISO)
positive regulation of autophagy  (IEA)
positive regulation of canonical NF-kappaB signal transduction  (IDA,IEA)
positive regulation of dendritic cell antigen processing and presentation  (IEA,ISS)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of interleukin-1 beta production  (IEA,ISO)
positive regulation of interleukin-6 production  (IEA,ISO)
positive regulation of interleukin-8 production  (IDA)
positive regulation of JNK cascade  (IEA,ISO)
positive regulation of macrophage cytokine production  (IEA,ISO)
positive regulation of nitric-oxide synthase activity  (ISO)
positive regulation of non-canonical NF-kappaB signal transduction  (IMP)
positive regulation of stress-activated MAPK cascade  (IEA,ISO)
positive regulation of tumor necrosis factor production  (IEA,ISO)
positive regulation of xenophagy  (IEA,ISO)
regulation of apoptotic process  (IEA)
response to endoplasmic reticulum stress  (IEA)
signal transduction  (TAS)
stress-activated MAPK cascade  (IEA,ISO)
xenophagy  (IEA,ISO)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Nod1, Nod2 and Nalp3 receptors, new potential targets in treatment of allergic rhinitis? Bogefors J, etal., Allergy. 2010 Oct;65(10):1222-6. Epub 2010 Apr 7.
2. Association between exposure to farming, allergies and genetic variation in CARD4/NOD1. Eder W, etal., Allergy. 2006 Sep;61(9):1117-24.
3. NOD1 activation induces cardiac dysfunction and modulates cardiac fibrosis and cardiomyocyte apoptosis. Fernandez-Velasco M, etal., PLoS One. 2012;7(9):e45260. doi: 10.1371/journal.pone.0045260. Epub 2012 Sep 18.
4. The pattern recognition receptors Nod1 and Nod2 account for neutrophil recruitment to the lungs of mice infected with Legionella pneumophila. Frutuoso MS, etal., Microbes Infect. 2010 Oct;12(11):819-27. Epub 2010 Jun 2.
5. Nod1 and Nod2 regulation of inflammation in the Salmonella colitis model. Geddes K, etal., Infect Immun. 2010 Dec;78(12):5107-15. Epub 2010 Oct 4.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. NOD1 variation, immunoglobulin E and asthma. Hysi P, etal., Hum Mol Genet. 2005 Apr 1;14(7):935-41. Epub 2005 Feb 17.
8. Nucleotide-binding oligomerization domain proteins are innate immune receptors for internalized Streptococcus pneumoniae. Opitz B, etal., J Biol Chem. 2004 Aug 27;279(35):36426-32. Epub 2004 Jun 23.
9. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. The NOD/RIP2 pathway is essential for host defenses against Chlamydophila pneumoniae lung infection. Shimada K, etal., PLoS Pathog. 2009 Apr;5(4):e1000379. Epub 2009 Apr 10.
Additional References at PubMed
PMID:10224040   PMID:10329646   PMID:10880512   PMID:11058605   PMID:11113115   PMID:12459189   PMID:12477932   PMID:12690205   PMID:12761501   PMID:12775719   PMID:12791997   PMID:12796777  
PMID:12813035   PMID:12853948   PMID:12871942   PMID:14702039   PMID:14977954   PMID:15107016   PMID:15276183   PMID:15489334   PMID:15653568   PMID:15657077   PMID:15790594   PMID:15967716  
PMID:15990792   PMID:16083881   PMID:16115863   PMID:16172124   PMID:16211083   PMID:16260731   PMID:16446438   PMID:16464805   PMID:16493424   PMID:16517750   PMID:16741608   PMID:16893397  
PMID:16935475   PMID:17005562   PMID:17012967   PMID:17030188   PMID:17054981   PMID:17100974   PMID:17156193   PMID:17285593   PMID:17309748   PMID:17322292   PMID:17337451   PMID:17403538  
PMID:17420470   PMID:17435760   PMID:17452051   PMID:17521327   PMID:17595233   PMID:17613538   PMID:17620097   PMID:17907287   PMID:17964870   PMID:17970764   PMID:18186648   PMID:18397186  
PMID:18426885   PMID:18521924   PMID:18536738   PMID:18573991   PMID:18574154   PMID:19043560   PMID:19050632   PMID:19074885   PMID:19120480   PMID:19122645   PMID:19167431   PMID:19247692  
PMID:19260860   PMID:19264973   PMID:19273470   PMID:19327158   PMID:19337385   PMID:19401779   PMID:19406482   PMID:19423540   PMID:19538217   PMID:19570976   PMID:19587002   PMID:19660916  
PMID:19667203   PMID:19723304   PMID:19818630   PMID:19843337   PMID:19882212   PMID:19898471   PMID:19913121   PMID:20002790   PMID:20007577   PMID:20039881   PMID:20124104   PMID:20300534  
PMID:20389019   PMID:20395963   PMID:20403997   PMID:20406964   PMID:20438785   PMID:20453000   PMID:20470879   PMID:20485444   PMID:20519512   PMID:20534456   PMID:20595247   PMID:20628086  
PMID:20646321   PMID:20713621   PMID:20818820   PMID:20844241   PMID:20846183   PMID:21042538   PMID:21048031   PMID:21097508   PMID:21241317   PMID:21263023   PMID:21310790   PMID:21330608  
PMID:21342182   PMID:21677137   PMID:21722177   PMID:21739538   PMID:21745515   PMID:21757725   PMID:21864388   PMID:21873635   PMID:21924184   PMID:21978001   PMID:21988832   PMID:22062585  
PMID:22143988   PMID:22218461   PMID:22507623   PMID:22563200   PMID:22658674   PMID:22763410   PMID:22795647   PMID:22848741   PMID:22870324   PMID:22902391   PMID:23062636   PMID:23107019  
PMID:23136938   PMID:23182460   PMID:23275338   PMID:23300079   PMID:23353647   PMID:23382681   PMID:23460743   PMID:23711367   PMID:23712977   PMID:23740944   PMID:23839082   PMID:23888881  
PMID:23901396   PMID:23935490   PMID:24018334   PMID:24041848   PMID:24053487   PMID:24143223   PMID:24295830   PMID:24366254   PMID:24444388   PMID:24598002   PMID:24661094   PMID:24690886  
PMID:24746552   PMID:24829218   PMID:24832447   PMID:24862550   PMID:24934088   PMID:24958724   PMID:25012219   PMID:25024364   PMID:25036637   PMID:25093298   PMID:25503380   PMID:25801093  
PMID:25840495   PMID:25854006   PMID:25891078   PMID:25933107   PMID:26052894   PMID:26238283   PMID:26759244   PMID:26871637   PMID:26880761   PMID:26902715   PMID:26915562   PMID:26980698  
PMID:27000222   PMID:27007849   PMID:27099311   PMID:27591899   PMID:27830463   PMID:27836539   PMID:27856764   PMID:27885704   PMID:27917621   PMID:27936005   PMID:28114344   PMID:28432285  
PMID:28536249   PMID:28592872   PMID:28673961   PMID:28768269   PMID:28823510   PMID:29030987   PMID:29211798   PMID:29615116   PMID:29760746   PMID:29997244   PMID:30150286   PMID:30321637  
PMID:30332343   PMID:30384473   PMID:30685324   PMID:30717343   PMID:30874883   PMID:30903318   PMID:31123889   PMID:31649195   PMID:31956962   PMID:32578848   PMID:32677123   PMID:32694731  
PMID:32814053   PMID:32927803   PMID:33293463   PMID:33503439   PMID:33529885   PMID:33879265   PMID:33942347   PMID:34294014   PMID:34825931   PMID:35033591   PMID:35130902   PMID:35156780  
PMID:35225652   PMID:35319362   PMID:35430507   PMID:36043447   PMID:36221902   PMID:36268029   PMID:36544356   PMID:36657640   PMID:37224660   PMID:37350445   PMID:37398436   PMID:37488967  
PMID:37996457  


Genomics

Comparative Map Data
NOD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,424,527 - 30,478,784 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,424,527 - 30,478,784 (-)EnsemblGRCh38hg38GRCh38
GRCh37730,464,143 - 30,518,400 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,430,675 - 30,484,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 34730,237,389 - 30,291,505NCBI
Celera730,453,464 - 30,507,713 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef730,346,423 - 30,400,669 (-)NCBIHuRef
CHM1_1730,464,171 - 30,518,245 (-)NCBICHM1_1
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2730,513,913 - 30,568,158 (-)NCBI
Nod1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39654,900,927 - 54,949,655 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl654,900,934 - 54,949,597 (-)EnsemblGRCm39 Ensembl
GRCm38654,923,942 - 54,972,674 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl654,923,949 - 54,972,612 (-)EnsemblGRCm38mm10GRCm38
MGSCv37654,873,936 - 54,922,606 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36654,853,527 - 54,901,991 (-)NCBIMGSCv36mm8
Celera655,457,493 - 55,496,882 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.22NCBI
Nod1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8485,391,142 - 85,442,281 (-)NCBIGRCr8
mRatBN7.2484,060,871 - 84,111,668 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl484,060,880 - 84,111,404 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx489,285,035 - 89,334,440 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0485,060,457 - 85,109,860 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0483,471,807 - 83,522,335 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0485,123,965 - 85,175,206 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl485,123,960 - 85,174,951 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04149,781,209 - 149,832,175 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4483,398,809 - 83,449,207 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera478,928,394 - 78,978,728 (-)NCBICelera
Cytogenetic Map4q24NCBI
Nod1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541031,681,077 - 31,725,173 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541031,681,191 - 31,725,173 (-)NCBIChiLan1.0ChiLan1.0
NOD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2635,258,093 - 35,306,265 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1783,582,820 - 83,631,444 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0731,060,245 - 31,109,012 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1731,182,275 - 31,230,388 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl731,182,275 - 31,208,742 (-)Ensemblpanpan1.1panPan2
NOD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11443,162,671 - 43,226,948 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1443,163,571 - 43,227,103 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1442,595,450 - 42,659,740 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01443,105,467 - 43,168,383 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1443,105,475 - 43,194,265 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11443,221,377 - 43,284,335 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01442,900,527 - 42,960,255 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01443,258,705 - 43,321,637 (-)NCBIUU_Cfam_GSD_1.0
Nod1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511887,505,623 - 87,556,280 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364786,715,245 - 6,768,372 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364786,717,354 - 6,768,293 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NOD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1842,432,050 - 42,512,264 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11842,464,667 - 42,509,135 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21846,989,047 - 47,012,192 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NOD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12127,907,628 - 27,957,621 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2127,926,710 - 27,957,619 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604276,740,001 - 76,789,440 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nod1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624739285,689 - 341,956 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624739285,791 - 339,752 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NOD1
82 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3 copy number gain See cases [RCV000051178] Chr7:30420933..34560665 [GRCh38]
Chr7:30460549..34600277 [GRCh37]
Chr7:30427074..34566802 [NCBI36]
Chr7:7p14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_006092.2(NOD1):c.-207C>T single nucleotide variant Malignant melanoma [RCV000067840] Chr7:30459237 [GRCh38]
Chr7:30498853 [GRCh37]
Chr7:30465378 [NCBI36]
Chr7:7p14.3
not provided
NM_006092.2(NOD1):c.811T>C (p.Phe271Leu) single nucleotide variant Malignant melanoma [RCV000061629] Chr7:30452606 [GRCh38]
Chr7:30492222 [GRCh37]
Chr7:30458747 [NCBI36]
Chr7:7p14.3
not provided
NM_001354849.1(NOD1):c.-585G>C single nucleotide variant not provided [RCV000089201] Chr7:30478839 [GRCh38]
Chr7:30518455 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.3(NOD1):c.-523-142G>A single nucleotide variant not provided [RCV000089202] Chr7:30478919 [GRCh38]
Chr7:30518535 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.3(NOD1):c.-523-629C>T single nucleotide variant not provided [RCV000089203] Chr7:30479406 [GRCh38]
Chr7:30519022 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.-121-85G>C single nucleotide variant not provided [RCV000089346] Chr7:30457127 [GRCh38]
Chr7:30496743 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.-211+198G>A single nucleotide variant not provided [RCV000089347] Chr7:30459703 [GRCh38]
Chr7:30499319 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.-234G>A single nucleotide variant not provided [RCV000089348] Chr7:30459924 [GRCh38]
Chr7:30499540 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.1369C>T (p.Arg457Trp) single nucleotide variant not provided [RCV000089349] Chr7:30452048 [GRCh38]
Chr7:30491664 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.1423C>T (p.Leu475Phe) single nucleotide variant not provided [RCV000089350] Chr7:30451994 [GRCh38]
Chr7:30491610 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.1458C>T (p.Ser486=) single nucleotide variant not provided [RCV000089351] Chr7:30451959 [GRCh38]
Chr7:30491575 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.1492del (p.Leu498fs) deletion not provided [RCV000089352] Chr7:30451925 [GRCh38]
Chr7:30491541 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2080G>A (p.Ala694Thr) single nucleotide variant not provided [RCV000089353] Chr7:30451337 [GRCh38]
Chr7:30490953 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2201+36C>T single nucleotide variant not provided [RCV000089354] Chr7:30451180 [GRCh38]
Chr7:30490796 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2202-27C>T single nucleotide variant not provided [RCV000089355] Chr7:30448408 [GRCh38]
Chr7:30488024 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+112G>A single nucleotide variant not provided [RCV000089356] Chr7:30448186 [GRCh38]
Chr7:30487802 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+118C>T single nucleotide variant not provided [RCV000089357] Chr7:30448180 [GRCh38]
Chr7:30487796 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+220T>A single nucleotide variant not provided [RCV000089358] Chr7:30448078 [GRCh38]
Chr7:30487694 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+31T>C single nucleotide variant not provided [RCV000089359] Chr7:30448267 [GRCh38]
Chr7:30487883 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+372T>A single nucleotide variant not provided [RCV000089360] Chr7:30447926 [GRCh38]
Chr7:30487542 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2285+90G>A single nucleotide variant not provided [RCV000089361] Chr7:30448208 [GRCh38]
Chr7:30487824 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2454-116G>C single nucleotide variant not provided [RCV000089362] Chr7:30437772 [GRCh38]
Chr7:30477388 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2537+169A>C single nucleotide variant not provided [RCV000089363] Chr7:30437404 [GRCh38]
Chr7:30477020 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2537+344C>G single nucleotide variant not provided [RCV000089364] Chr7:30437229 [GRCh38]
Chr7:30476845 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2537+394T>A single nucleotide variant not provided [RCV000089365] Chr7:30437179 [GRCh38]
Chr7:30476795 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2537+81G>A single nucleotide variant not provided [RCV000089366] Chr7:30437492 [GRCh38]
Chr7:30477108 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.254T>A (p.Phe85Tyr) single nucleotide variant not provided [RCV000089367] Chr7:30455259 [GRCh38]
Chr7:30494875 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.2697G>C (p.Lys899Asn) single nucleotide variant not provided [RCV000089368] Chr7:30433104 [GRCh38]
Chr7:30472720 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.285T>C (p.Asp95=) single nucleotide variant not provided [RCV000089369] Chr7:30455228 [GRCh38]
Chr7:30494844 [GRCh37]
Chr7:7p14.3
not provided
NM_006092.4(NOD1):c.375A>G (p.Pro125=) single nucleotide variant not provided [RCV000089370] Chr7:30455138 [GRCh38]
Chr7:30494754 [GRCh37]
Chr7:7p14.3
not provided
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:30404217-30782235)x3 copy number gain See cases [RCV000445921] Chr7:30404217..30782235 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006092.4(NOD1):c.163G>A (p.Ala55Thr) single nucleotide variant not specified [RCV004311056] Chr7:30456759 [GRCh38]
Chr7:30496375 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2308G>C (p.Asp770His) single nucleotide variant not specified [RCV004305457] Chr7:30447028 [GRCh38]
Chr7:30486644 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 copy number gain not provided [RCV000682909] Chr7:30463886..43470805 [GRCh37]
Chr7:7p14.3-13
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006092.4(NOD1):c.1376C>T (p.Thr459Ile) single nucleotide variant not specified [RCV004286495] Chr7:30452041 [GRCh38]
Chr7:30491657 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2319C>G (p.Ala773=) single nucleotide variant not provided [RCV000943383] Chr7:30447017 [GRCh38]
Chr7:30486633 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.1114G>A (p.Asp372Asn) single nucleotide variant not provided [RCV000970161] Chr7:30452303 [GRCh38]
Chr7:30491919 [GRCh37]
Chr7:7p14.3
benign
NM_006092.4(NOD1):c.1340G>A (p.Arg447His) single nucleotide variant not provided [RCV000948761] Chr7:30452077 [GRCh38]
Chr7:30491693 [GRCh37]
Chr7:7p14.3
benign
NM_006092.4(NOD1):c.891C>T (p.Arg297=) single nucleotide variant not provided [RCV000948762] Chr7:30452526 [GRCh38]
Chr7:30492142 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006092.4(NOD1):c.2823C>G (p.Ala941=) single nucleotide variant not provided [RCV000965038] Chr7:30425677 [GRCh38]
Chr7:30465293 [GRCh37]
Chr7:7p14.3
benign
NM_006092.4(NOD1):c.641G>A (p.Arg214Gln) single nucleotide variant not provided [RCV000896641] Chr7:30452776 [GRCh38]
Chr7:30492392 [GRCh37]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p14.3(chr7:30502942-30888964)x1 copy number loss not provided [RCV001005929] Chr7:30502942..30888964 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NC_000007.13:g.30439214_30632407dup duplication Neurodevelopmental disorder [RCV000787446] Chr7:30439214..30632407 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3
likely pathogenic
NM_006092.4(NOD1):c.1609A>G (p.Thr537Ala) single nucleotide variant not specified [RCV004298535] Chr7:30451808 [GRCh38]
Chr7:30491424 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.796G>A (p.Glu266Lys) single nucleotide variant not provided [RCV001618156] Chr7:30452621 [GRCh38]
Chr7:30492237 [GRCh37]
Chr7:7p14.3
benign
NM_006092.4(NOD1):c.377-10C>T single nucleotide variant not provided [RCV000907546] Chr7:30453050 [GRCh38]
Chr7:30492666 [GRCh37]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p14.3(chr7:30463886-30674061)x3 copy number gain not provided [RCV001005928] Chr7:30463886..30674061 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3 copy number gain not provided [RCV001258937] Chr7:29758030..31318843 [GRCh37]
Chr7:7p14.3
likely pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_006092.4(NOD1):c.1722G>A (p.Ala574=) single nucleotide variant not provided [RCV001617218] Chr7:30451695 [GRCh38]
Chr7:30491311 [GRCh37]
Chr7:7p14.3
benign
NC_000007.13:g.(?_30054351)_(31018859_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001911803] Chr7:30054351..31018859 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1
likely pathogenic
GRCh37/hg19 7p14.3(chr7:30404217-30782235) copy number gain not specified [RCV002053678] Chr7:30404217..30782235 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_006092.4(NOD1):c.595T>C (p.Phe199Leu) single nucleotide variant not specified [RCV004121720] Chr7:30452822 [GRCh38]
Chr7:30492438 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1718C>T (p.Pro573Leu) single nucleotide variant not specified [RCV004222828] Chr7:30451699 [GRCh38]
Chr7:30491315 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.492G>A (p.Met164Ile) single nucleotide variant not specified [RCV004118170] Chr7:30452925 [GRCh38]
Chr7:30492541 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3
pathogenic
NM_006092.4(NOD1):c.870C>G (p.His290Gln) single nucleotide variant not specified [RCV004236134] Chr7:30452547 [GRCh38]
Chr7:30492163 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1196G>A (p.Arg399Gln) single nucleotide variant not specified [RCV004205363] Chr7:30452221 [GRCh38]
Chr7:30491837 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.394C>A (p.Gln132Lys) single nucleotide variant not specified [RCV004178437] Chr7:30453023 [GRCh38]
Chr7:30492639 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.1970G>A (p.Arg657His) single nucleotide variant not specified [RCV004077507] Chr7:30451447 [GRCh38]
Chr7:30491063 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2155G>A (p.Gly719Ser) single nucleotide variant not specified [RCV004134341] Chr7:30451262 [GRCh38]
Chr7:30490878 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1195C>T (p.Arg399Trp) single nucleotide variant not specified [RCV004197083] Chr7:30452222 [GRCh38]
Chr7:30491838 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2497G>A (p.Ala833Thr) single nucleotide variant not specified [RCV004175022] Chr7:30437613 [GRCh38]
Chr7:30477229 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.107A>C (p.Asn36Thr) single nucleotide variant not specified [RCV004105802] Chr7:30456815 [GRCh38]
Chr7:30496431 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.761T>C (p.Leu254Pro) single nucleotide variant not specified [RCV004129004] Chr7:30452656 [GRCh38]
Chr7:30492272 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.205C>T (p.Arg69Cys) single nucleotide variant not specified [RCV004200424] Chr7:30455308 [GRCh38]
Chr7:30494924 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.667C>T (p.Arg223Trp) single nucleotide variant not specified [RCV004107646] Chr7:30452750 [GRCh38]
Chr7:30492366 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.46T>A (p.Ser16Thr) single nucleotide variant not specified [RCV004073031] Chr7:30456876 [GRCh38]
Chr7:30496492 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1723C>T (p.Arg575Trp) single nucleotide variant not specified [RCV004231825] Chr7:30451694 [GRCh38]
Chr7:30491310 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1597G>A (p.Asp533Asn) single nucleotide variant not specified [RCV004177994] Chr7:30451820 [GRCh38]
Chr7:30491436 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.47C>T (p.Ser16Phe) single nucleotide variant not specified [RCV004073032] Chr7:30456875 [GRCh38]
Chr7:30496491 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1214G>A (p.Arg405His) single nucleotide variant not specified [RCV004243769] Chr7:30452203 [GRCh38]
Chr7:30491819 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.1667C>T (p.Thr556Met) single nucleotide variant not specified [RCV004122959] Chr7:30451750 [GRCh38]
Chr7:30491366 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.206G>A (p.Arg69His) single nucleotide variant not specified [RCV004197064] Chr7:30455307 [GRCh38]
Chr7:30494923 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.104G>A (p.Arg35His) single nucleotide variant not specified [RCV004072552] Chr7:30456818 [GRCh38]
Chr7:30496434 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2828T>G (p.Val943Gly) single nucleotide variant not specified [RCV004120003] Chr7:30425672 [GRCh38]
Chr7:30465288 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.590C>G (p.Thr197Ser) single nucleotide variant not specified [RCV004173216] Chr7:30452827 [GRCh38]
Chr7:30492443 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1949C>T (p.Pro650Leu) single nucleotide variant not specified [RCV004237005] Chr7:30451468 [GRCh38]
Chr7:30491084 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.704G>A (p.Arg235His) single nucleotide variant not specified [RCV004183557] Chr7:30452713 [GRCh38]
Chr7:30492329 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1495C>T (p.Arg499Trp) single nucleotide variant not specified [RCV004251411] Chr7:30451922 [GRCh38]
Chr7:30491538 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.155C>T (p.Ala52Val) single nucleotide variant not specified [RCV004266888] Chr7:30456767 [GRCh38]
Chr7:30496383 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.948C>A (p.Asn316Lys) single nucleotide variant not specified [RCV004316180] Chr7:30452469 [GRCh38]
Chr7:30492085 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1208A>G (p.His403Arg) single nucleotide variant not specified [RCV004309405] Chr7:30452209 [GRCh38]
Chr7:30491825 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2081C>T (p.Ala694Val) single nucleotide variant not specified [RCV004249654] Chr7:30451336 [GRCh38]
Chr7:30490952 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2677A>G (p.Lys893Glu) single nucleotide variant not specified [RCV004323412] Chr7:30433124 [GRCh38]
Chr7:30472740 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.964C>G (p.Leu322Val) single nucleotide variant not specified [RCV004346605] Chr7:30452453 [GRCh38]
Chr7:30492069 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.407A>G (p.His136Arg) single nucleotide variant not specified [RCV004363675] Chr7:30453010 [GRCh38]
Chr7:30492626 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2326G>A (p.Val776Ile) single nucleotide variant not specified [RCV004344905] Chr7:30447010 [GRCh38]
Chr7:30486626 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.1881C>T (p.Ser627=) single nucleotide variant not provided [RCV003436699] Chr7:30451536 [GRCh38]
Chr7:30491152 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.2360C>T (p.Thr787Met) single nucleotide variant not provided [RCV003436698] Chr7:30446976 [GRCh38]
Chr7:30486592 [GRCh37]
Chr7:7p14.3
likely benign
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 copy number loss not specified [RCV003986712] Chr7:17736012..30663423 [GRCh37]
Chr7:7p21.1-14.3
pathogenic
NM_006092.4(NOD1):c.1066C>T (p.His356Tyr) single nucleotide variant not specified [RCV004487869] Chr7:30452351 [GRCh38]
Chr7:30491967 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1394A>G (p.Gln465Arg) single nucleotide variant not specified [RCV004487874] Chr7:30452023 [GRCh38]
Chr7:30491639 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.1661C>T (p.Ala554Val) single nucleotide variant not specified [RCV004487875] Chr7:30451756 [GRCh38]
Chr7:30491372 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.2066C>T (p.Ser689Leu) single nucleotide variant not specified [RCV004487878] Chr7:30451351 [GRCh38]
Chr7:30490967 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2080G>C (p.Ala694Pro) single nucleotide variant not specified [RCV004487879] Chr7:30451337 [GRCh38]
Chr7:30490953 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1018C>T (p.Arg340Cys) single nucleotide variant not specified [RCV004487868] Chr7:30452399 [GRCh38]
Chr7:30492015 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2851A>C (p.Ile951Leu) single nucleotide variant not specified [RCV004487883] Chr7:30425649 [GRCh38]
Chr7:30465265 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.430G>T (p.Val144Leu) single nucleotide variant not specified [RCV004487885] Chr7:30452987 [GRCh38]
Chr7:30492603 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.892G>A (p.Val298Met) single nucleotide variant not specified [RCV004487887] Chr7:30452525 [GRCh38]
Chr7:30492141 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1286C>G (p.Thr429Ser) single nucleotide variant not specified [RCV004487871] Chr7:30452131 [GRCh38]
Chr7:30491747 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.709C>T (p.Arg237Cys) single nucleotide variant not specified [RCV004487886] Chr7:30452708 [GRCh38]
Chr7:30492324 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2435A>G (p.Lys812Arg) single nucleotide variant not specified [RCV004487881] Chr7:30446159 [GRCh38]
Chr7:30485775 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1142A>G (p.Asn381Ser) single nucleotide variant not specified [RCV004487870] Chr7:30452275 [GRCh38]
Chr7:30491891 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1370G>A (p.Arg457Gln) single nucleotide variant not specified [RCV004487873] Chr7:30452047 [GRCh38]
Chr7:30491663 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.1814G>A (p.Arg605Gln) single nucleotide variant not specified [RCV004487877] Chr7:30451603 [GRCh38]
Chr7:30491219 [GRCh37]
Chr7:7p14.3
likely benign
NM_006092.4(NOD1):c.2440A>G (p.Ile814Val) single nucleotide variant not specified [RCV004487882] Chr7:30446154 [GRCh38]
Chr7:30485770 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.305C>T (p.Pro102Leu) single nucleotide variant not specified [RCV004487884] Chr7:30455208 [GRCh38]
Chr7:30494824 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30054351)_(30963244_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV004583590] Chr7:30054351..30963244 [GRCh37] uncertain significance
NM_006092.4(NOD1):c.244G>C (p.Val82Leu) single nucleotide variant not specified [RCV004344906] Chr7:30455269 [GRCh38]
Chr7:30494885 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_006092.4(NOD1):c.2804T>G (p.Leu935Arg) single nucleotide variant not specified [RCV004344320] Chr7:30425696 [GRCh38]
Chr7:30465312 [GRCh37]
Chr7:7p14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3625
Count of miRNA genes:936
Interacting mature miRNAs:1133
Transcripts:ENST00000222823, ENST00000411552, ENST00000413433, ENST00000419601, ENST00000419799, ENST00000423334, ENST00000434755, ENST00000467706, ENST00000489614
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human

Markers in Region
GDB:1317654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,487,905 - 30,488,052UniSTSGRCh37
Build 36730,454,430 - 30,454,577RGDNCBI36
Celera730,477,226 - 30,477,373RGD
Cytogenetic Map7p15-p14UniSTS
HuRef730,370,185 - 30,370,332UniSTS
CRA_TCAGchr7v2730,537,675 - 30,537,822UniSTS
SHGC-56016  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,505,305 - 30,505,431UniSTSGRCh37
Build 36730,471,830 - 30,471,956RGDNCBI36
Celera730,494,626 - 30,494,752RGD
Cytogenetic Map7p15-p14UniSTS
HuRef730,387,580 - 30,387,706UniSTS
CRA_TCAGchr7v2730,555,075 - 30,555,201UniSTS
GeneMap99-GB4 RH Map7130.86UniSTS
Whitehead-RH Map798.2UniSTS
STS-R02588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,464,168 - 30,464,303UniSTSGRCh37
Build 36730,430,693 - 30,430,828RGDNCBI36
Celera730,453,489 - 30,453,624RGD
Cytogenetic Map7p15-p14UniSTS
HuRef730,346,448 - 30,346,583UniSTS
CRA_TCAGchr7v2730,513,938 - 30,514,073UniSTS
GeneMap99-GB4 RH Map7132.66UniSTS
NCBI RH Map7457.8UniSTS
GDB:4585415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,468,749 - 30,468,853UniSTSGRCh37
Build 36730,435,274 - 30,435,378RGDNCBI36
Celera730,458,070 - 30,458,174RGD
Cytogenetic Map7p15-p14UniSTS
HuRef730,351,029 - 30,351,133UniSTS
CRA_TCAGchr7v2730,518,519 - 30,518,623UniSTS
GDB:4585724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,488,658 - 30,488,796UniSTSGRCh37
Build 36730,455,183 - 30,455,321RGDNCBI36
Celera730,477,979 - 30,478,117RGD
Cytogenetic Map7p15-p14UniSTS
HuRef730,370,938 - 30,371,076UniSTS
CRA_TCAGchr7v2730,538,428 - 30,538,566UniSTS
CARD4_3524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,464,158 - 30,464,974UniSTSGRCh37
Build 36730,430,683 - 30,431,499RGDNCBI36
Celera730,453,479 - 30,454,295RGD
HuRef730,346,438 - 30,347,254UniSTS
CRA_TCAGchr7v2730,513,928 - 30,514,744UniSTS
NOD1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,490,874 - 30,491,249UniSTSGRCh37
Celera730,480,195 - 30,480,570UniSTS
HuRef730,373,154 - 30,373,529UniSTS
CRA_TCAGchr7v2730,540,644 - 30,541,019UniSTS


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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 716 504 637 49 436 12 1876 397 671 21 490 1202 39 1147 1091 1
Low 1723 2454 1077 563 1479 441 2480 1800 2936 398 970 411 136 1 57 1697 5 2
Below cutoff 33 12 12 36 12 127

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_013025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_149002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005249576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017011674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001744530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007059981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487523 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA845215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AACC02000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF113925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF126484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX082205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY128686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY187250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV569884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000222823   ⟹   ENSP00000222823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,424,527 - 30,478,784 (-)Ensembl
RefSeq Acc Id: ENST00000411552   ⟹   ENSP00000396046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,456,743 - 30,478,728 (-)Ensembl
RefSeq Acc Id: ENST00000413433   ⟹   ENSP00000399505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,456,743 - 30,478,636 (-)Ensembl
RefSeq Acc Id: ENST00000419601   ⟹   ENSP00000410917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,456,785 - 30,478,784 (-)Ensembl
RefSeq Acc Id: ENST00000419799   ⟹   ENSP00000395551
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,456,743 - 30,478,742 (-)Ensembl
RefSeq Acc Id: ENST00000434755   ⟹   ENSP00000416946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,424,530 - 30,478,738 (-)Ensembl
RefSeq Acc Id: ENST00000467706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,425,209 - 30,433,414 (-)Ensembl
RefSeq Acc Id: ENST00000489614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,424,534 - 30,447,977 (-)Ensembl
RefSeq Acc Id: NM_001354849   ⟹   NP_001341778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006092   ⟹   NP_006083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
GRCh37730,464,143 - 30,518,426 (-)NCBI
Build 36730,430,675 - 30,484,790 (-)NCBI Archive
HuRef730,346,423 - 30,400,669 (-)ENTREZGENE
CHM1_1730,464,171 - 30,518,245 (-)NCBI
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
CRA_TCAGchr7v2730,513,913 - 30,568,158 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_149002
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249568   ⟹   XP_005249625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
GRCh37730,464,143 - 30,518,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249572   ⟹   XP_005249629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
GRCh37730,464,143 - 30,518,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005249576   ⟹   XP_005249633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,452,926 (-)NCBI
GRCh37730,464,143 - 30,518,426 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715633   ⟹   XP_006715696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515079   ⟹   XP_011513381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515083   ⟹   XP_011513385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515084   ⟹   XP_011513386
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515085   ⟹   XP_011513387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515087   ⟹   XP_011513389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,437,663 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515088   ⟹   XP_011513390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,447,082 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419752   ⟹   XP_047275708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419753   ⟹   XP_047275709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419754   ⟹   XP_047275710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419755   ⟹   XP_047275711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419756   ⟹   XP_047275712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419757   ⟹   XP_047275713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419758   ⟹   XP_047275714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419759   ⟹   XP_047275715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419760   ⟹   XP_047275716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419761   ⟹   XP_047275717
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419762   ⟹   XP_047275718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419763   ⟹   XP_047275719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419764   ⟹   XP_047275720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419765   ⟹   XP_047275721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419766   ⟹   XP_047275722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419767   ⟹   XP_047275723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419768   ⟹   XP_047275724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419769   ⟹   XP_047275725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,447,082 - 30,478,784 (-)NCBI
RefSeq Acc Id: XM_047419770   ⟹   XP_047275726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,452,944 (-)NCBI
RefSeq Acc Id: XM_054357052   ⟹   XP_054213027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357053   ⟹   XP_054213028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357054   ⟹   XP_054213029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357055   ⟹   XP_054213030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357056   ⟹   XP_054213031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357057   ⟹   XP_054213032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357058   ⟹   XP_054213033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357059   ⟹   XP_054213034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357060   ⟹   XP_054213035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357061   ⟹   XP_054213036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357062   ⟹   XP_054213037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357063   ⟹   XP_054213038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357064   ⟹   XP_054213039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357065   ⟹   XP_054213040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357066   ⟹   XP_054213041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357067   ⟹   XP_054213042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357068   ⟹   XP_054213043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357069   ⟹   XP_054213044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357070   ⟹   XP_054213045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357071   ⟹   XP_054213046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357072   ⟹   XP_054213047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357073   ⟹   XP_054213048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357074   ⟹   XP_054213049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357075   ⟹   XP_054213050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357076   ⟹   XP_054213051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,575,361 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357077   ⟹   XP_054213052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,584,663 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357078   ⟹   XP_054213053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,584,663 - 30,616,484 (-)NCBI
RefSeq Acc Id: XM_054357079   ⟹   XP_054213054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,590,621 (-)NCBI
RefSeq Acc Id: XM_054357080   ⟹   XP_054213055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,590,639 (-)NCBI
RefSeq Acc Id: XR_001744530
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,448,292 - 30,478,784 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007059981
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,424,527 - 30,478,784 (-)NCBI
RefSeq Acc Id: XR_008487520
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,562,221 - 30,616,484 (-)NCBI
RefSeq Acc Id: XR_008487521
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,583,840 - 30,616,484 (-)NCBI
RefSeq Acc Id: XR_008487522
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,585,987 - 30,616,484 (-)NCBI
RefSeq Acc Id: XR_008487523
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,585,987 - 30,616,484 (-)NCBI
RefSeq Acc Id: XR_926910
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,448,292 - 30,478,784 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001341778 (Get FASTA)   NCBI Sequence Viewer  
  NP_006083 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249625 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249629 (Get FASTA)   NCBI Sequence Viewer  
  XP_005249633 (Get FASTA)   NCBI Sequence Viewer  
  XP_006715696 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513381 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513385 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513386 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513387 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513389 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513390 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275708 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275709 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275710 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275711 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275712 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275713 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275714 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275715 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275716 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275717 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275718 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275719 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275720 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275721 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275722 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275723 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275724 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275725 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275726 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213030 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213031 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213055 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD28350 (Get FASTA)   NCBI Sequence Viewer  
  AAD29125 (Get FASTA)   NCBI Sequence Viewer  
  AAH40339 (Get FASTA)   NCBI Sequence Viewer  
  AAM98064 (Get FASTA)   NCBI Sequence Viewer  
  AAM98065 (Get FASTA)   NCBI Sequence Viewer  
  AAM98066 (Get FASTA)   NCBI Sequence Viewer  
  AAM98067 (Get FASTA)   NCBI Sequence Viewer  
  AAM98068 (Get FASTA)   NCBI Sequence Viewer  
  AAS46897 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33972 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33973 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33974 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33975 (Get FASTA)   NCBI Sequence Viewer  
  BAG51242 (Get FASTA)   NCBI Sequence Viewer  
  BAG62105 (Get FASTA)   NCBI Sequence Viewer  
  CAC33156 (Get FASTA)   NCBI Sequence Viewer  
  EAL24453 (Get FASTA)   NCBI Sequence Viewer  
  EAW93944 (Get FASTA)   NCBI Sequence Viewer  
  EAW93945 (Get FASTA)   NCBI Sequence Viewer  
  EAW93946 (Get FASTA)   NCBI Sequence Viewer  
  EAW93947 (Get FASTA)   NCBI Sequence Viewer  
  EAW93948 (Get FASTA)   NCBI Sequence Viewer  
  EAW93949 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000222823
  ENSP00000222823.4
  ENSP00000395551.1
  ENSP00000396046.1
  ENSP00000399505.1
  ENSP00000410917.1
  ENSP00000416946
  ENSP00000416946.1
GenBank Protein Q9Y239 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_006083   ⟸   NM_006092
- Peptide Label: isoform 1
- UniProtKB: Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   Q9Y239 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249629   ⟸   XM_005249572
- Peptide Label: isoform X1
- UniProtKB: Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   Q9Y239 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249625   ⟸   XM_005249568
- Peptide Label: isoform X1
- UniProtKB: Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   Q9Y239 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005249633   ⟸   XM_005249576
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_006715696   ⟸   XM_006715633
- Peptide Label: isoform X1
- UniProtKB: Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   Q9Y239 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513381   ⟸   XM_011515079
- Peptide Label: isoform X1
- UniProtKB: Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   Q9Y239 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513385   ⟸   XM_011515083
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513387   ⟸   XM_011515085
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513386   ⟸   XM_011515084
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513389   ⟸   XM_011515087
- Peptide Label: isoform X8
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011513390   ⟸   XM_011515088
- Peptide Label: isoform X9
- UniProtKB: G3XAL1 (UniProtKB/TrEMBL),   B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341778   ⟸   NM_001354849
- Peptide Label: isoform 2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396046   ⟸   ENST00000411552
RefSeq Acc Id: ENSP00000399505   ⟸   ENST00000413433
RefSeq Acc Id: ENSP00000410917   ⟸   ENST00000419601
RefSeq Acc Id: ENSP00000395551   ⟸   ENST00000419799
RefSeq Acc Id: ENSP00000222823   ⟸   ENST00000222823
RefSeq Acc Id: ENSP00000416946   ⟸   ENST00000434755
RefSeq Acc Id: XP_047275716   ⟸   XM_047419760
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275719   ⟸   XM_047419763
- Peptide Label: isoform X4
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275709   ⟸   XM_047419753
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275721   ⟸   XM_047419765
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275715   ⟸   XM_047419759
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275724   ⟸   XM_047419768
- Peptide Label: isoform X7
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275718   ⟸   XM_047419762
- Peptide Label: isoform X4
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275717   ⟸   XM_047419761
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275722   ⟸   XM_047419766
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275711   ⟸   XM_047419755
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275708   ⟸   XM_047419752
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275714   ⟸   XM_047419758
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275723   ⟸   XM_047419767
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275712   ⟸   XM_047419756
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275710   ⟸   XM_047419754
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275713   ⟸   XM_047419757
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047275720   ⟸   XM_047419764
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047275726   ⟸   XM_047419770
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047275725   ⟸   XM_047419769
- Peptide Label: isoform X10
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213041   ⟸   XM_054357066
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213031   ⟸   XM_054357056
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213044   ⟸   XM_054357069
- Peptide Label: isoform X4
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213033   ⟸   XM_054357058
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213047   ⟸   XM_054357072
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213040   ⟸   XM_054357065
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213050   ⟸   XM_054357075
- Peptide Label: isoform X7
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213043   ⟸   XM_054357068
- Peptide Label: isoform X4
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213032   ⟸   XM_054357057
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213046   ⟸   XM_054357071
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213035   ⟸   XM_054357060
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213027   ⟸   XM_054357052
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213042   ⟸   XM_054357067
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213048   ⟸   XM_054357073
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213036   ⟸   XM_054357061
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213028   ⟸   XM_054357053
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213039   ⟸   XM_054357064
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213030   ⟸   XM_054357055
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213049   ⟸   XM_054357074
- Peptide Label: isoform X6
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213037   ⟸   XM_054357062
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213029   ⟸   XM_054357054
- Peptide Label: isoform X1
- UniProtKB: Q9Y239 (UniProtKB/Swiss-Prot),   Q549U4 (UniProtKB/Swiss-Prot),   B4DTU3 (UniProtKB/Swiss-Prot),   Q8IWF5 (UniProtKB/Swiss-Prot),   A0A024RA73 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213034   ⟸   XM_054357059
- Peptide Label: isoform X2
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213038   ⟸   XM_054357063
- Peptide Label: isoform X3
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213045   ⟸   XM_054357070
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054213055   ⟸   XM_054357080
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054213054   ⟸   XM_054357079
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054213051   ⟸   XM_054357076
- Peptide Label: isoform X8
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213052   ⟸   XM_054357077
- Peptide Label: isoform X9
- UniProtKB: B3KN80 (UniProtKB/TrEMBL),   G3XAL1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213053   ⟸   XM_054357078
- Peptide Label: isoform X10
- UniProtKB: B3KN80 (UniProtKB/TrEMBL)
Protein Domains
CARD   NACHT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y239-F1-model_v2 AlphaFold Q9Y239 1-953 view protein structure

Promoters
RGD ID:6805954
Promoter ID:HG_KWN:56809
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000328039
Position:
Human AssemblyChrPosition (strand)Source
Build 36730,439,356 - 30,440,527 (-)MPROMDB
RGD ID:7210283
Promoter ID:EPDNEW_H10887
Type:initiation region
Name:NOD1_1
Description:nucleotide binding oligomerization domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,478,728 - 30,478,788EPDNEW
RGD ID:6805956
Promoter ID:HG_KWN:56812
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000250443,   OTTHUMT00000328033,   UC003TAX.1,   UC003TAY.1,   UC010KVT.1,   UC010KVU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36730,484,639 - 30,485,139 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16390 AgrOrtholog
COSMIC NOD1 COSMIC
Ensembl Genes ENSG00000106100 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222823 ENTREZGENE
  ENST00000222823.9 UniProtKB/Swiss-Prot
  ENST00000411552.5 UniProtKB/TrEMBL
  ENST00000413433.5 UniProtKB/TrEMBL
  ENST00000419601.1 UniProtKB/TrEMBL
  ENST00000419799.5 UniProtKB/TrEMBL
  ENST00000434755 ENTREZGENE
  ENST00000434755.5 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 ENSG00000106100 GTEx
HGNC ID HGNC:16390 ENTREZGENE
Human Proteome Map NOD1 Human Proteome Map
InterPro CARD 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:10392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10392 ENTREZGENE
OMIM 605980 OMIM
PANTHER NACHT, LRR AND CARD DOMAINS-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN-CONTAINING PROTEIN 1 UniProtKB/TrEMBL
  RNI-LIKE SUPERFAMILY PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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
PharmGKB PA162398098 PharmGKB
PROSITE CARD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NACHT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_RI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RNI-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47986 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RA73 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4W5_HUMAN UniProtKB/TrEMBL
  A0A1B0GX71_HUMAN UniProtKB/TrEMBL
  B3KN80 ENTREZGENE, UniProtKB/TrEMBL
  B4DTU3 ENTREZGENE
  C9J8X8_HUMAN UniProtKB/TrEMBL
  G3XAL1 ENTREZGENE, UniProtKB/TrEMBL
  NOD1_HUMAN UniProtKB/Swiss-Prot
  Q549U4 ENTREZGENE
  Q8IWF5 ENTREZGENE
  Q9Y239 ENTREZGENE
UniProt Secondary B4DTU3 UniProtKB/Swiss-Prot
  Q549U4 UniProtKB/Swiss-Prot
  Q8IWF5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 NOD1  nucleotide binding oligomerization domain containing 1    nucleotide-binding oligomerization domain containing 1  Symbol and/or name change 5135510 APPROVED