NRN1 (neuritin 1) - Rat Genome Database

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Gene: NRN1 (neuritin 1) Homo sapiens
Analyze
Symbol: NRN1
Name: neuritin 1
RGD ID: 1351872
HGNC Page HGNC:17972
Description: Predicted to enable identical protein binding activity. Predicted to be involved in neuron projection extension and presynaptic modulation of chemical synaptic transmission. Predicted to be located in extracellular space. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in glutamatergic synapse.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: dJ380B8.2; MGC44811; neuritin; NRN
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
GRCh3865,997,999 - 6,007,518 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl65,997,999 - 6,007,605 (-)EnsemblGRCh38hg38GRCh38
GRCh3765,998,232 - 6,007,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3665,943,231 - 5,952,632 (-)NCBINCBI36Build 36hg18NCBI36
Build 3465,943,233 - 5,952,632NCBI
Celera67,224,912 - 7,234,313 (-)NCBICelera
Cytogenetic Map6p25.1NCBI
HuRef65,873,923 - 5,883,530 (-)NCBIHuRef
CHM1_166,001,212 - 6,010,814 (-)NCBICHM1_1
T2T-CHM13v2.065,866,869 - 5,876,472 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-azacytidine  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
cocaine  (ISO)
cyclosporin A  (ISO)
dexamethasone  (EXP,ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fluoxetine  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
genistein  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
maneb  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
morphine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nicotine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP,ISO)
terbufos  (EXP)
Testosterone propionate  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
undecane  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Neuritin: a gene induced by neural activity and neurotrophins that promotes neuritogenesis. Naeve GS, etal., Proc Natl Acad Sci U S A 1997 Mar 18;94(6):2648-53.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14574404   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16723126   PMID:18265009   PMID:19569075   PMID:20405246   PMID:21652774   PMID:21873635   PMID:25036738  
PMID:25101829   PMID:26208391   PMID:26700405   PMID:27279027   PMID:27307045   PMID:27855309   PMID:27901477   PMID:28107668   PMID:28514442   PMID:30165668   PMID:31176712   PMID:31491902  
PMID:32285140   PMID:33931924   PMID:33961781   PMID:34530960   PMID:35806464   PMID:37024090   PMID:37249336  


Genomics

Comparative Map Data
NRN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3865,997,999 - 6,007,518 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl65,997,999 - 6,007,605 (-)EnsemblGRCh38hg38GRCh38
GRCh3765,998,232 - 6,007,751 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3665,943,231 - 5,952,632 (-)NCBINCBI36Build 36hg18NCBI36
Build 3465,943,233 - 5,952,632NCBI
Celera67,224,912 - 7,234,313 (-)NCBICelera
Cytogenetic Map6p25.1NCBI
HuRef65,873,923 - 5,883,530 (-)NCBIHuRef
CHM1_166,001,212 - 6,010,814 (-)NCBICHM1_1
T2T-CHM13v2.065,866,869 - 5,876,472 (-)NCBIT2T-CHM13v2.0
Nrn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391336,909,596 - 36,918,451 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1336,909,335 - 36,919,105 (-)EnsemblGRCm39 Ensembl
GRCm381336,725,622 - 36,734,477 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1336,725,361 - 36,735,131 (-)EnsemblGRCm38mm10GRCm38
MGSCv371336,817,494 - 36,826,323 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361336,733,091 - 36,741,922 (-)NCBIMGSCv36mm8
Celera1337,844,580 - 37,853,452 (-)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1314.44NCBI
Nrn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81728,335,426 - 28,344,354 (+)NCBIGRCr8
mRatBN7.21728,129,969 - 28,138,898 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1728,129,977 - 28,138,896 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1727,988,531 - 27,997,495 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01729,592,060 - 29,601,025 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01727,958,988 - 27,967,948 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01727,925,054 - 28,002,946 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1727,925,057 - 27,969,433 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01729,834,673 - 29,910,519 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1727,746,113 - 27,755,014 (+)NCBICelera
Cytogenetic Map17p12NCBI
Nrn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554657,702,605 - 7,711,986 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554657,703,301 - 7,711,927 (+)NCBIChiLan1.0ChiLan1.0
NRN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2520,626,368 - 20,635,336 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1616,630,457 - 16,639,408 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v065,832,603 - 5,841,975 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.166,014,000 - 6,022,869 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl66,014,000 - 6,022,870 (-)Ensemblpanpan1.1panPan2
NRN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1356,070,456 - 6,079,214 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl356,070,379 - 6,078,965 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha356,075,854 - 6,084,239 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0356,145,299 - 6,153,696 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl356,144,597 - 6,153,662 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1356,006,507 - 6,014,905 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0356,032,496 - 6,040,856 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0357,365,880 - 7,374,292 (-)NCBIUU_Cfam_GSD_1.0
Nrn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494618,190,327 - 18,195,267 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365346,459,431 - 6,464,253 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NRN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl73,682,571 - 3,691,349 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.173,682,568 - 3,691,328 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.273,884,762 - 3,893,524 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NRN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11766,187,338 - 66,196,928 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1766,187,723 - 66,196,934 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660445,933,827 - 5,943,198 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nrn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475619,365,444 - 19,375,494 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475619,365,665 - 19,374,008 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NRN1
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-25.1(chr6:163083-6062800)x1 copy number loss See cases [RCV000050686] Chr6:163083..6062800 [GRCh38]
Chr6:163083..6063033 [GRCh37]
Chr6:108083..6008032 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)x1 copy number loss See cases [RCV000052163] Chr6:164633..6284237 [GRCh38]
Chr6:164633..6284470 [GRCh37]
Chr6:109633..6229469 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x3 copy number gain See cases [RCV000138716] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 likely pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6027547)x1 copy number loss See cases [RCV000138717] Chr6:152634..6027547 [GRCh38]
Chr6:152634..6027780 [GRCh37]
Chr6:97634..5972779 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)x1 copy number loss See cases [RCV000142299] Chr6:156974..7122759 [GRCh38]
Chr6:156974..7122992 [GRCh37]
Chr6:101974..7067991 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-25.1(chr6:152634-6289804)x1 copy number loss See cases [RCV000142916] Chr6:152634..6289804 [GRCh38]
Chr6:152634..6290037 [GRCh37]
Chr6:97634..6235036 [NCBI36]
Chr6:6p25.3-25.1		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:204009-6447311)x1 copy number loss See cases [RCV000240475] Chr6:204009..6447311 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-25.1(chr6:156974-6417749)x1 copy number loss See cases [RCV000511093] Chr6:156974..6417749 [GRCh37]
Chr6:6p25.3-25.1		 pathogenic
NM_016588.3(NRN1):c.373T>C (p.Phe125Leu) single nucleotide variant Inborn genetic diseases [RCV003302392] Chr6:5999032 [GRCh38]
Chr6:5999265 [GRCh37]
Chr6:6p25.1		 likely benign
NM_016588.3(NRN1):c.391T>G (p.Ser131Ala) single nucleotide variant Inborn genetic diseases [RCV003288817] Chr6:5999014 [GRCh38]
Chr6:5999247 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_016588.3(NRN1):c.19G>A (p.Gly7Ser) single nucleotide variant not provided [RCV000884417] Chr6:6006731 [GRCh38]
Chr6:6006964 [GRCh37]
Chr6:6p25.1		 benign
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NC_000006.11:g.(?_5109657)_(6320826_?)del deletion Combined oxidative phosphorylation defect type 14 [RCV003109536] Chr6:5109657..6320826 [GRCh37]
Chr6:6p25.1		 pathogenic
NC_000006.11:g.(?_5771504)_(6182394_?)dup duplication Combined oxidative phosphorylation defect type 14 [RCV003109539] Chr6:5771504..6182394 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_016588.3(NRN1):c.375C>G (p.Phe125Leu) single nucleotide variant Inborn genetic diseases [RCV002969928] Chr6:5999030 [GRCh38]
Chr6:5999263 [GRCh37]
Chr6:6p25.1		 likely benign
NM_016588.3(NRN1):c.334G>A (p.Gly112Ser) single nucleotide variant Inborn genetic diseases [RCV002864624] Chr6:5999071 [GRCh38]
Chr6:5999304 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_016588.3(NRN1):c.94G>A (p.Asp32Asn) single nucleotide variant Inborn genetic diseases [RCV002743304] Chr6:6002459 [GRCh38]
Chr6:6002692 [GRCh37]
Chr6:6p25.1		 uncertain significance
NM_016588.3(NRN1):c.397T>C (p.Ser133Pro) single nucleotide variant Inborn genetic diseases [RCV002826800] Chr6:5999008 [GRCh38]
Chr6:5999241 [GRCh37]
Chr6:6p25.1		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:575
Count of miRNA genes:437
Interacting mature miRNAs:474
Transcripts:ENST00000244766, ENST00000495850
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
RH1540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,998,393 - 5,998,524UniSTSGRCh37
Build 3665,943,392 - 5,943,523RGDNCBI36
Celera67,225,073 - 7,225,204RGD
Cytogenetic Map6p25.1UniSTS
HuRef65,874,085 - 5,874,216UniSTS
GeneMap99-GB4 RH Map643.64UniSTS
NCBI RH Map675.2UniSTS
NRN1_9703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,998,074 - 5,998,840UniSTSGRCh37
Build 3665,943,073 - 5,943,839RGDNCBI36
Celera67,224,754 - 7,225,520RGD
HuRef65,873,765 - 5,874,532UniSTS
NRN1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3765,998,413 - 5,998,772UniSTSGRCh37
Celera67,225,093 - 7,225,452UniSTS
HuRef65,874,105 - 5,874,464UniSTS


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 1670 1150 705 62 561 19 3196 1053 2807 139 520 1200 45 1201 1964 1
Low 701 1543 971 517 936 400 1040 1135 911 247 810 307 123 1 3 824 3
Below cutoff 40 290 41 38 383 40 114 6 10 16 93 52 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001278710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006715107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF114833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF136631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL541038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF970432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX340783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB013243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000244766   ⟹   ENSP00000244766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,997,999 - 6,006,925 (-)Ensembl
RefSeq Acc Id: ENST00000495850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,998,715 - 6,002,963 (-)Ensembl
RefSeq Acc Id: ENST00000616243   ⟹   ENSP00000484055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,998,002 - 6,007,605 (-)Ensembl
RefSeq Acc Id: ENST00000622188   ⟹   ENSP00000480483
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl65,998,002 - 6,004,044 (-)Ensembl
RefSeq Acc Id: NM_001278710   ⟹   NP_001265639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,997,999 - 6,007,518 (-)NCBI
HuRef65,873,923 - 5,883,530 (-)NCBI
CHM1_166,001,212 - 6,010,814 (-)NCBI
T2T-CHM13v2.065,866,869 - 5,876,393 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278711   ⟹   NP_001265640
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,997,999 - 6,004,025 (-)NCBI
GRCh3765,998,232 - 6,007,838 (-)NCBI
HuRef65,873,923 - 5,883,530 (-)NCBI
CHM1_166,001,212 - 6,007,257 (-)NCBI
T2T-CHM13v2.065,866,869 - 5,872,901 (-)NCBI
Sequence:
RefSeq Acc Id: NM_016588   ⟹   NP_057672
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,997,999 - 6,006,925 (-)NCBI
GRCh3765,998,232 - 6,007,838 (-)NCBI
Build 3665,943,231 - 5,952,632 (-)NCBI Archive
Celera67,224,912 - 7,234,313 (-)RGD
HuRef65,873,923 - 5,883,530 (-)NCBI
CHM1_166,001,212 - 6,010,613 (-)NCBI
T2T-CHM13v2.065,866,869 - 5,875,801 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715106   ⟹   XP_006715169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,997,999 - 6,004,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006715107   ⟹   XP_006715170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3865,997,999 - 6,004,025 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054355568   ⟹   XP_054211543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.065,866,869 - 5,872,901 (-)NCBI
RefSeq Acc Id: XM_054355569   ⟹   XP_054211544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.065,866,869 - 5,876,472 (-)NCBI
RefSeq Acc Id: XM_054355570   ⟹   XP_054211545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.065,866,869 - 5,872,901 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_057672   ⟸   NM_016588
- Peptide Label: isoform 1 precursor
- UniProtKB: B2RA93 (UniProtKB/Swiss-Prot),   Q7Z4Y1 (UniProtKB/Swiss-Prot),   Q9NPD7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265639   ⟸   NM_001278710
- Peptide Label: isoform 1 precursor
- UniProtKB: B2RA93 (UniProtKB/Swiss-Prot),   Q7Z4Y1 (UniProtKB/Swiss-Prot),   Q9NPD7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001265640   ⟸   NM_001278711
- Peptide Label: isoform 2
- UniProtKB: A0A087WWT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006715169   ⟸   XM_006715106
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_006715170   ⟸   XM_006715107
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000480483   ⟸   ENST00000622188
RefSeq Acc Id: ENSP00000244766   ⟸   ENST00000244766
RefSeq Acc Id: ENSP00000484055   ⟸   ENST00000616243
RefSeq Acc Id: XP_054211544   ⟸   XM_054355569
- Peptide Label: isoform X3
- UniProtKB: Q7Z4Y1 (UniProtKB/Swiss-Prot),   Q9NPD7 (UniProtKB/Swiss-Prot),   B2RA93 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211545   ⟸   XM_054355570
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211543   ⟸   XM_054355568
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NPD7-F1-model_v2 AlphaFold Q9NPD7 1-142 view protein structure

Promoters
RGD ID:6804499
Promoter ID:HG_KWN:52220
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid,   NB4
Transcripts:UC003MWT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3665,949,071 - 5,949,571 (-)MPROMDB
RGD ID:6871952
Promoter ID:EPDNEW_H9140
Type:initiation region
Name:NRN1_1
Description:neuritin 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
GRCh3866,006,925 - 6,006,985EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17972 AgrOrtholog
COSMIC NRN1 COSMIC
Ensembl Genes ENSG00000124785 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000244766 ENTREZGENE
  ENST00000244766.7 UniProtKB/Swiss-Prot
  ENST00000616243 ENTREZGENE
  ENST00000616243.1 UniProtKB/Swiss-Prot
  ENST00000622188 ENTREZGENE
  ENST00000622188.4 UniProtKB/TrEMBL
GTEx ENSG00000124785 GTEx
HGNC ID HGNC:17972 ENTREZGENE
Human Proteome Map NRN1 Human Proteome Map
InterPro Neuritin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51299 UniProtKB/Swiss-Prot
NCBI Gene 51299 ENTREZGENE
OMIM 607409 OMIM
PANTHER NEURITIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15902 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam NRN1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38477 PharmGKB
UniProt A0A087WWT2 ENTREZGENE, UniProtKB/TrEMBL
  B2RA93 ENTREZGENE
  NRN1_HUMAN UniProtKB/Swiss-Prot
  Q7Z4Y1 ENTREZGENE
  Q9NPD7 ENTREZGENE
UniProt Secondary B2RA93 UniProtKB/Swiss-Prot
  Q7Z4Y1 UniProtKB/Swiss-Prot