NRROS (negative regulator of reactive oxygen species) - Rat Genome Database
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Gene: NRROS (negative regulator of reactive oxygen species) Homo sapiens
Analyze
Symbol: NRROS
Name: negative regulator of reactive oxygen species
RGD ID: 1602040
HGNC Page HGNC
Description: Exhibits transforming growth factor beta binding activity. Predicted to be involved in several processes, including microglia development; sequestering of TGFbeta in extracellular matrix; and transforming growth factor beta1 activation. Localizes to cell surface; INTERACTS WITH 5-aza-2'-deoxycytidine; aflatoxin B1; benzo[a]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ELLP3030; GARPL1; leucine rich repeat containing 33; leucine-rich repeat-containing protein 33; LRRC33; MGC50789; SENEBAC; transforming growth factor beta activator LRRC33; UNQ3030
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh38.p13 Ensembl3196,639,694 - 196,662,004 (+)EnsemblGRCh38hg38GRCh38
GRCh383196,639,694 - 196,662,004 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373196,366,565 - 196,388,875 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,851,053 - 197,873,272 (+)NCBINCBI36hg18NCBI36
Celera3194,948,253 - 194,970,470 (+)NCBI
Cytogenetic Map3q29NCBI
HuRef3193,663,748 - 193,685,954 (+)NCBIHuRef
CHM1_13196,337,847 - 196,360,147 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12975309   PMID:15489334   PMID:21873635   PMID:22268729   PMID:23545260   PMID:24550525   PMID:28514442   PMID:29909984   PMID:31600200   PMID:31644309   PMID:32197075  


Genomics

Comparative Map Data
NRROS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl3196,639,694 - 196,662,004 (+)EnsemblGRCh38hg38GRCh38
GRCh383196,639,694 - 196,662,004 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh373196,366,565 - 196,388,875 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,851,053 - 197,873,272 (+)NCBINCBI36hg18NCBI36
Celera3194,948,253 - 194,970,470 (+)NCBI
Cytogenetic Map3q29NCBI
HuRef3193,663,748 - 193,685,954 (+)NCBIHuRef
CHM1_13196,337,847 - 196,360,147 (+)NCBICHM1_1
Nrros
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391631,961,603 - 31,984,412 (-)NCBIGRCm39mm39
GRCm39 Ensembl1631,961,603 - 31,984,412 (-)Ensembl
GRCm381632,142,785 - 32,165,594 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1632,142,785 - 32,165,594 (-)EnsemblGRCm38mm10GRCm38
MGSCv371632,142,911 - 32,165,562 (-)NCBIGRCm37mm9NCBIm37
MGSCv361632,062,572 - 32,085,223 (-)NCBImm8
Celera1632,639,762 - 32,659,142 (-)NCBICelera
Cytogenetic Map16B2NCBI
Nrros
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21168,628,641 - 68,646,152 (+)NCBI
Rnor_6.0 Ensembl1171,872,830 - 71,889,887 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01171,872,728 - 71,889,897 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01174,956,672 - 74,973,823 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,449,116 - 70,466,412 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11170,506,704 - 70,523,991 (+)NCBI
Celera1168,051,440 - 68,068,647 (+)NCBICelera
Cytogenetic Map11q22NCBI
Nrros
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542012,792,111 - 12,801,963 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542012,792,173 - 12,798,645 (+)NCBIChiLan1.0ChiLan1.0
NRROS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.13203,925,101 - 203,948,506 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3203,920,334 - 203,948,506 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v03193,984,797 - 194,007,173 (+)NCBIMhudiblu_PPA_v0panPan3
NRROS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,682,182 - 29,699,469 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3329,692,371 - 29,767,771 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,699,502 - 29,723,146 (+)NCBI
ROS_Cfam_1.03329,919,288 - 29,942,927 (+)NCBI
UMICH_Zoey_3.13329,696,615 - 29,720,261 (+)NCBI
UNSW_CanFamBas_1.03329,751,932 - 29,775,642 (+)NCBI
UU_Cfam_GSD_1.03330,374,170 - 30,397,856 (+)NCBI
Nrros
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2NW_024405602124,634,255 - 124,663,044 (-)NCBI
SpeTri2.0NW_0049367841,222,381 - 1,250,501 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRROS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,470,643 - 133,496,264 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,470,641 - 133,496,218 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213143,119,166 - 143,143,926 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NRROS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,558,837 - 90,580,291 (-)NCBI
ChlSab1.1 Ensembl1590,558,770 - 90,579,175 (-)Ensembl
Nrros
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473061,717,592 - 61,742,374 (+)NCBI

Position Markers
SHGC-80664  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,387,517 - 196,387,820UniSTSGRCh37
Build 363197,871,914 - 197,872,217RGDNCBI36
Celera3194,969,112 - 194,969,415RGD
Cytogenetic Map3q29UniSTS
HuRef3193,684,596 - 193,684,899UniSTS
TNG Radiation Hybrid Map3109003.0UniSTS
WI-16806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,388,081 - 196,388,207UniSTSGRCh37
Build 363197,872,478 - 197,872,604RGDNCBI36
Celera3194,969,676 - 194,969,802RGD
Cytogenetic Map3q29UniSTS
HuRef3193,685,160 - 193,685,286UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
Whitehead-RH Map3883.6UniSTS
NCBI RH Map32000.6UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:451
Count of miRNA genes:341
Interacting mature miRNAs:364
Transcripts:ENST00000328557, ENST00000461791
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.


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 378 680 76 18 1516 13 813 252 214 49 119 557 6 774 225 1
Low 1971 2258 1594 567 420 411 3420 1799 3265 330 1278 949 160 1 429 2457 2 1
Below cutoff 42 52 50 35 11 36 114 141 239 30 39 82 6 1 106 1 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000328557   ⟹   ENSP00000328625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,639,694 - 196,662,004 (+)Ensembl
RefSeq Acc Id: ENST00000461791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl3196,639,757 - 196,654,993 (+)Ensembl
RefSeq Acc Id: NM_198565   ⟹   NP_940967
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,639,694 - 196,662,004 (+)NCBI
GRCh373196,366,656 - 196,388,875 (+)RGD
Build 363197,851,053 - 197,873,272 (+)NCBI Archive
Celera3194,948,253 - 194,970,470 (+)RGD
HuRef3193,663,748 - 193,685,954 (+)RGD
CHM1_13196,337,847 - 196,360,147 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_940967 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH44233 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88688 (Get FASTA)   NCBI Sequence Viewer  
  Q86YC3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_940967   ⟸   NM_198565
- Peptide Label: precursor
- UniProtKB: Q86YC3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000328625   ⟸   ENST00000328557
Protein Domains
LRRCT   LRRNT

Promoters
RGD ID:6866710
Promoter ID:EPDNEW_H6519
Type:initiation region
Name:NRROS_1
Description:negative regulator of reactive oxygen species
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
GRCh383196,639,762 - 196,639,822EPDNEW
RGD ID:6801425
Promoter ID:HG_KWN:47495
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000340676,   OTTHUMT00000340677,   OTTHUMT00000340685
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,850,156 - 197,851,432 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196536193-196741662)x3 copy number gain See cases [RCV000133795] Chr3:196536193..196741662 [GRCh38]
Chr3:196263064..196468533 [GRCh37]
Chr3:197747461..197952930 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196418334-198125115)x3 copy number gain See cases [RCV000141811] Chr3:196418334..198125115 [GRCh38]
Chr3:196145205..197851986 [GRCh37]
Chr3:197629602..199336383 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196281672-197681798)x3 copy number gain See cases [RCV000239963] Chr3:196281672..197681798 [GRCh37]
Chr3:3q29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196326784-196381502)x3 copy number gain See cases [RCV000447721] Chr3:196326784..196381502 [GRCh37]
Chr3:3q29		 likely benign
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.1888G>A (p.Val630Met) single nucleotide variant not provided [RCV000881131] Chr3:196661531 [GRCh38]
Chr3:196388402 [GRCh37]
Chr3:3q29		 benign
NM_198565.3(NRROS):c.1902C>T (p.Pro634=) single nucleotide variant not provided [RCV000952890] Chr3:196661545 [GRCh38]
Chr3:196388416 [GRCh37]
Chr3:3q29		 benign
NM_198565.3(NRROS):c.1777C>T (p.Gln593Ter) single nucleotide variant Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093641] Chr3:196661420 [GRCh38]
Chr3:196388291 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.1257del (p.Gly420fs) deletion Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093643] Chr3:196660900 [GRCh38]
Chr3:196387771 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196244688-196535851)x3 copy number gain not provided [RCV001005503] Chr3:196244688..196535851 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.544C>A (p.Arg182Ser) single nucleotide variant not provided [RCV000973927] Chr3:196660187 [GRCh38]
Chr3:196387058 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:196381502-196771786)x3 copy number gain not provided [RCV001249434] Chr3:196381502..196771786 [GRCh37]
Chr3:3q29		 not provided
GRCh37/hg19 3q29(chr3:195848341-196426606)x3 copy number gain not provided [RCV001005502] Chr3:195848341..196426606 [GRCh37]
Chr3:3q29		 uncertain significance
NM_198565.3(NRROS):c.1644del (p.Thr549fs) deletion Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093645] Chr3:196661287 [GRCh38]
Chr3:196388158 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.190del (p.Leu64fs) deletion Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093646] Chr3:196659831 [GRCh38]
Chr3:196386702 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.29T>C (p.Leu10Pro) single nucleotide variant Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093642] Chr3:196654568 [GRCh38]
Chr3:196381439 [GRCh37]
Chr3:3q29		 pathogenic
NM_198565.3(NRROS):c.1981del (p.Leu661fs) deletion Seizures, early-onset, with neurodegeneration and brain calcifications [RCV001093644] Chr3:196661623 [GRCh38]
Chr3:196388494 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Behavioral abnormality [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24613 AgrOrtholog
COSMIC NRROS COSMIC
Ensembl Genes ENSG00000174004 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000328625 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000328557 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 3.80.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000174004 GTEx
HGNC ID HGNC:24613 ENTREZGENE
Human Proteome Map NRROS Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot
  Leu-rich_rpt_typical-subtyp UniProtKB/Swiss-Prot
  LRR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:375387 UniProtKB/Swiss-Prot
NCBI Gene 375387 ENTREZGENE
OMIM 615322 OMIM
  618875 OMIM
Pfam LRR_6 UniProtKB/Swiss-Prot
  LRR_8 UniProtKB/Swiss-Prot
PharmGKB PA142671521 PharmGKB
PROSITE LRR UniProtKB/Swiss-Prot
SMART LRR_TYP UniProtKB/Swiss-Prot
UniProt LRC33_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-07-09 NRROS  negative regulator of reactive oxygen species  LRRC33  leucine rich repeat containing 33  Symbol and/or name change 5135510 APPROVED