NISCH (nischarin) - Rat Genome Database

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Gene: NISCH (nischarin) Homo sapiens
Analyze
Symbol: NISCH
Name: nischarin
RGD ID: 1315855
HGNC Page HGNC:18006
Description: Enables identical protein binding activity. Predicted to be involved in outer dynein arm assembly. Predicted to act upstream of or within Rac protein signal transduction; actin cytoskeleton organization; and negative regulation of cell migration. Located in several cellular components, including intercellular bridge; microtubule cytoskeleton; and nucleoplasm. Implicated in congestive heart failure.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FLJ14425; FLJ40413; FLJ90519; hIRAS; I-1; I-1 receptor candidate protein; I1R candidate protein; imidazoline receptor 1; imidazoline receptor antisera selected; imidazoline receptor antisera-selected protein; imidazoline receptor candidate; imidazoline-1 receptor candidate protein; IR1; IRAS; KIAA0975
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
GRCh38352,455,604 - 52,493,068 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,455,118 - 52,493,068 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,489,620 - 52,527,084 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,464,564 - 52,502,128 (+)NCBINCBI36Build 36hg18NCBI36
Build 34352,464,671 - 52,502,125NCBI
Celera352,468,769 - 52,506,327 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,552,184 - 52,589,631 (+)NCBIHuRef
CHM1_1352,441,901 - 52,479,443 (+)NCBICHM1_1
T2T-CHM13v2.0352,488,505 - 52,525,966 (+)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
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-methoxyethanol  (ISO)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP,ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
deguelin  (EXP)
dexamethasone  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
doxorubicin  (EXP,ISO)
DPCPX  (ISO)
ethanol  (ISO)
fenthion  (ISO)
flutamide  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
methidathion  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
motexafin gadolinium  (EXP)
Moxonidine  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phosgene  (ISO)
picoxystrobin  (EXP)
pinostrobin  (EXP)
piperonyl butoxide  (ISO)
pirinixic acid  (EXP)
piroxicam  (EXP)
propiconazole  (ISO)
silicon dioxide  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
thioacetamide  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Imidazoline receptors in the heart: characterization, distribution, and regulation. El-Ayoubi R, etal., J Cardiovasc Pharmacol. 2002 Jun;39(6):875-83.
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9851558   PMID:10231032   PMID:10882231   PMID:11121431   PMID:11912194   PMID:12477932   PMID:12865160   PMID:12868002   PMID:14702039   PMID:15028619   PMID:15028621   PMID:15028622  
PMID:15028623   PMID:15475348   PMID:16598778   PMID:18561481   PMID:19913121   PMID:19946888   PMID:20628086   PMID:20935629   PMID:21145461   PMID:21706016   PMID:21873635   PMID:21917605  
PMID:21926972   PMID:22483786   PMID:23386062   PMID:23503203   PMID:23572524   PMID:23974872   PMID:24639526   PMID:25036637   PMID:25056061   PMID:25609649   PMID:25695373   PMID:25724667  
PMID:26363797   PMID:26972000   PMID:27173435   PMID:27565346   PMID:28031328   PMID:28131840   PMID:28298427   PMID:28380382   PMID:28461172   PMID:28514442   PMID:28581483   PMID:29395067  
PMID:29415725   PMID:29509190   PMID:29568061   PMID:29615496   PMID:30021884   PMID:30194290   PMID:30425250   PMID:31073040   PMID:31091453   PMID:31678930   PMID:31732153   PMID:31871319  
PMID:32203420   PMID:32457219   PMID:32513696   PMID:32707033   PMID:32877691   PMID:32994395   PMID:33001583   PMID:33567341   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34244565  
PMID:34349018   PMID:34432599   PMID:34709727   PMID:34727954   PMID:35108640   PMID:35205757   PMID:35271311   PMID:35384245   PMID:35446349   PMID:35563538   PMID:35748872   PMID:35914814  
PMID:36168628   PMID:36215168   PMID:36716956   PMID:37382661   PMID:37443018   PMID:37827155  


Genomics

Comparative Map Data
NISCH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,455,604 - 52,493,068 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,455,118 - 52,493,068 (+)EnsemblGRCh38hg38GRCh38
GRCh37352,489,620 - 52,527,084 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,464,564 - 52,502,128 (+)NCBINCBI36Build 36hg18NCBI36
Build 34352,464,671 - 52,502,125NCBI
Celera352,468,769 - 52,506,327 (+)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,552,184 - 52,589,631 (+)NCBIHuRef
CHM1_1352,441,901 - 52,479,443 (+)NCBICHM1_1
T2T-CHM13v2.0352,488,505 - 52,525,966 (+)NCBIT2T-CHM13v2.0
Nisch
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391430,892,885 - 30,928,783 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1430,892,887 - 30,938,903 (-)EnsemblGRCm39 Ensembl
GRCm381431,170,928 - 31,206,826 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1431,170,930 - 31,216,946 (-)EnsemblGRCm38mm10GRCm38
MGSCv371431,984,114 - 32,020,012 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361429,999,937 - 30,020,559 (-)NCBIMGSCv36mm8
Celera1427,429,490 - 27,465,449 (-)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.09NCBI
Nisch
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8166,370,809 - 6,407,104 (-)NCBIGRCr8
mRatBN7.2166,364,370 - 6,400,675 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl166,364,374 - 6,400,668 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx166,388,854 - 6,412,881 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0167,534,079 - 7,558,106 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0166,395,765 - 6,419,885 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0167,254,372 - 7,290,670 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl167,254,974 - 7,290,561 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0167,182,941 - 7,219,320 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4166,601,521 - 6,637,734 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1166,602,120 - 6,637,709 (-)NCBI
Celera168,788,272 - 8,824,554 (+)NCBICelera
Cytogenetic Map16p16NCBI
Nisch
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554302,443,029 - 2,491,123 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554302,443,029 - 2,488,267 (+)NCBIChiLan1.0ChiLan1.0
NISCH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2252,450,617 - 52,488,273 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1352,455,389 - 52,493,045 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0352,397,576 - 52,435,127 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,626,176 - 53,663,128 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,626,317 - 53,662,567 (+)Ensemblpanpan1.1panPan2
NISCH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,278,660 - 37,312,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2037,279,282 - 37,312,636 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,260,489 - 37,294,003 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02037,628,115 - 37,662,575 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,628,116 - 37,662,560 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12036,992,617 - 37,026,536 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,401,248 - 37,435,163 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02037,679,538 - 37,719,774 (-)NCBIUU_Cfam_GSD_1.0
Nisch
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118170,156,942 - 170,192,753 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049364733,295,515 - 3,331,324 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NISCH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1334,595,782 - 34,630,303 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11334,595,788 - 34,630,306 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21337,809,589 - 37,844,045 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NISCH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,821,026 - 13,860,430 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,841,352 - 13,860,498 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,039,458 - 153,078,870 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nisch
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248224,726,407 - 4,763,508 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248224,725,715 - 4,763,579 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NISCH
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007184.3(NISCH):c.361-1732A>G single nucleotide variant Lung cancer [RCV000093592] Chr3:52469127 [GRCh38]
Chr3:52503143 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_007184.3(NISCH):c.1628C>T (p.Ser543Phe) single nucleotide variant Malignant melanoma [RCV000066139] Chr3:52484612 [GRCh38]
Chr3:52518628 [GRCh37]
Chr3:52493668 [NCBI36]
Chr3:3p21.1		 not provided
NM_007184.3(NISCH):c.1653G>A (p.Gln551=) single nucleotide variant Malignant melanoma [RCV000066140] Chr3:52484637 [GRCh38]
Chr3:52518653 [GRCh37]
Chr3:52493693 [NCBI36]
Chr3:3p21.1		 not provided
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_007184.4(NISCH):c.1912G>C (p.Glu638Gln) single nucleotide variant not specified [RCV004293609] Chr3:52487404 [GRCh38]
Chr3:52521420 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2291C>T (p.Pro764Leu) single nucleotide variant not specified [RCV004282162] Chr3:52487783 [GRCh38]
Chr3:52521799 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2203G>A (p.Gly735Ser) single nucleotide variant not specified [RCV004333956] Chr3:52487695 [GRCh38]
Chr3:52521711 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1847G>A (p.Arg616Gln) single nucleotide variant not specified [RCV004322099] Chr3:52487339 [GRCh38]
Chr3:52521355 [GRCh37]
Chr3:3p21.1		 uncertain significance
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 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(chr3:61495-197838262)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
NM_007184.4(NISCH):c.2014G>A (p.Glu672Lys) single nucleotide variant not provided [RCV000971731] Chr3:52487506 [GRCh38]
Chr3:52521522 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.1872T>C (p.Ala624=) single nucleotide variant not provided [RCV000881728] Chr3:52487364 [GRCh38]
Chr3:52521380 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.2789G>A (p.Arg930His) single nucleotide variant not provided [RCV000949693] Chr3:52488281 [GRCh38]
Chr3:52522297 [GRCh37]
Chr3:3p21.1		 benign
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_007184.4(NISCH):c.444C>T (p.Ala148=) single nucleotide variant not provided [RCV000908584] Chr3:52471848 [GRCh38]
Chr3:52505864 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.1655C>T (p.Ala552Val) single nucleotide variant not provided [RCV000963429] Chr3:52485779 [GRCh38]
Chr3:52519795 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.4399G>A (p.Val1467Ile) single nucleotide variant not specified [RCV004317319] Chr3:52492366 [GRCh38]
Chr3:52526382 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 copy number loss not provided [RCV000848455] Chr3:52195134..52869037 [GRCh37]
Chr3:3p21.2-21.1		 pathogenic
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_007184.4(NISCH):c.2377A>G (p.Ile793Val) single nucleotide variant not specified [RCV004302436] Chr3:52487869 [GRCh38]
Chr3:52521885 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4334G>A (p.Ser1445Asn) single nucleotide variant not specified [RCV004283845] Chr3:52492301 [GRCh38]
Chr3:52526317 [GRCh37]
Chr3:3p21.1		 likely benign
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_007184.4(NISCH):c.895= (p.Val299=) variation not provided [RCV000954246] Chr3:52476576 [GRCh38]
Chr3:52510592 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.714G>A (p.Ser238=) single nucleotide variant not provided [RCV000963289] Chr3:52473778 [GRCh38]
Chr3:52507794 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.1379A>G (p.Lys460Arg) single nucleotide variant not provided [RCV000974982] Chr3:52479825 [GRCh38]
Chr3:52513841 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.1488C>T (p.Pro496=) single nucleotide variant not provided [RCV000889305] Chr3:52480255 [GRCh38]
Chr3:52514271 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.3083C>T (p.Ala1028Val) single nucleotide variant not provided [RCV000956771] Chr3:52488575 [GRCh38]
Chr3:52522591 [GRCh37]
Chr3:3p21.1		 benign
NM_007184.4(NISCH):c.3720C>T (p.Phe1240=) single nucleotide variant not provided [RCV000956772] Chr3:52490811 [GRCh38]
Chr3:52524827 [GRCh37]
Chr3:3p21.1		 benign
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 copy number gain not provided [RCV001259685] Chr3:51975459..52561678 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NC_000003.11:g.(?_52109903)_(53164416_?)del deletion RFT1-congenital disorder of glycosylation [RCV003122979] Chr3:52109903..53164416 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_007184.4(NISCH):c.1536G>A (p.Met512Ile) single nucleotide variant not specified [RCV004303486] Chr3:52484520 [GRCh38]
Chr3:52518536 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1567C>T (p.Leu523Phe) single nucleotide variant not specified [RCV004117964] Chr3:52484551 [GRCh38]
Chr3:52518567 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2041G>A (p.Glu681Lys) single nucleotide variant not specified [RCV004210064] Chr3:52487533 [GRCh38]
Chr3:52521549 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4234C>T (p.Arg1412Cys) single nucleotide variant not specified [RCV004233864] Chr3:52492201 [GRCh38]
Chr3:52526217 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2597G>T (p.Arg866Leu) single nucleotide variant not specified [RCV004231282] Chr3:52488089 [GRCh38]
Chr3:52522105 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.824T>C (p.Leu275Pro) single nucleotide variant not specified [RCV004095757] Chr3:52476505 [GRCh38]
Chr3:52510521 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.829G>T (p.Gly277Cys) single nucleotide variant not specified [RCV004143530] Chr3:52476510 [GRCh38]
Chr3:52510526 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2671C>T (p.Arg891Trp) single nucleotide variant not specified [RCV004122098] Chr3:52488163 [GRCh38]
Chr3:52522179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2716A>C (p.Ile906Leu) single nucleotide variant not specified [RCV004144245] Chr3:52488208 [GRCh38]
Chr3:52522224 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.363G>T (p.Glu121Asp) single nucleotide variant not specified [RCV004172071] Chr3:52470861 [GRCh38]
Chr3:52504877 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2976C>G (p.Phe992Leu) single nucleotide variant not specified [RCV004153497] Chr3:52488468 [GRCh38]
Chr3:52522484 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3841C>T (p.Arg1281Cys) single nucleotide variant not specified [RCV004206621] Chr3:52491450 [GRCh38]
Chr3:52525466 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.13C>G (p.Arg5Gly) single nucleotide variant not specified [RCV004222512] Chr3:52455654 [GRCh38]
Chr3:52489670 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1187G>A (p.Arg396Gln) single nucleotide variant not specified [RCV004228185] Chr3:52478462 [GRCh38]
Chr3:52512478 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.20T>C (p.Phe7Ser) single nucleotide variant not specified [RCV004238915] Chr3:52455661 [GRCh38]
Chr3:52489677 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3421G>A (p.Ala1141Thr) single nucleotide variant not specified [RCV004233935] Chr3:52489643 [GRCh38]
Chr3:52523659 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1142A>G (p.Asn381Ser) single nucleotide variant not specified [RCV004111782] Chr3:52478251 [GRCh38]
Chr3:52512267 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2614G>A (p.Ala872Thr) single nucleotide variant not specified [RCV004166010] Chr3:52488106 [GRCh38]
Chr3:52522122 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4237G>A (p.Val1413Ile) single nucleotide variant not specified [RCV004122272] Chr3:52492204 [GRCh38]
Chr3:52526220 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3395G>A (p.Arg1132Gln) single nucleotide variant not specified [RCV004243880] Chr3:52489617 [GRCh38]
Chr3:52523633 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.4196C>T (p.Pro1399Leu) single nucleotide variant not specified [RCV004115587] Chr3:52492163 [GRCh38]
Chr3:52526179 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.622C>T (p.Leu208Phe) single nucleotide variant not specified [RCV004202673] Chr3:52472351 [GRCh38]
Chr3:52506367 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1186C>T (p.Arg396Trp) single nucleotide variant not specified [RCV004200962] Chr3:52478461 [GRCh38]
Chr3:52512477 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.844G>A (p.Val282Ile) single nucleotide variant not specified [RCV004132745] Chr3:52476525 [GRCh38]
Chr3:52510541 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.359A>G (p.Tyr120Cys) single nucleotide variant not specified [RCV004132155] Chr3:52458843 [GRCh38]
Chr3:52492859 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1433G>A (p.Arg478Gln) single nucleotide variant not specified [RCV004075808] Chr3:52480200 [GRCh38]
Chr3:52514216 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3397C>T (p.His1133Tyr) single nucleotide variant not specified [RCV004229511] Chr3:52489619 [GRCh38]
Chr3:52523635 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1469C>T (p.Ser490Phe) single nucleotide variant not specified [RCV004232872] Chr3:52480236 [GRCh38]
Chr3:52514252 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2194A>C (p.Thr732Pro) single nucleotide variant not specified [RCV004272351] Chr3:52487686 [GRCh38]
Chr3:52521702 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.379G>A (p.Ala127Thr) single nucleotide variant not specified [RCV004266250] Chr3:52470877 [GRCh38]
Chr3:52504893 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.316G>A (p.Val106Met) single nucleotide variant not specified [RCV004256015] Chr3:52458800 [GRCh38]
Chr3:52492816 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.787T>A (p.Ser263Thr) single nucleotide variant not specified [RCV004248015] Chr3:52476468 [GRCh38]
Chr3:52510484 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3320C>T (p.Pro1107Leu) single nucleotide variant not specified [RCV004264015] Chr3:52489542 [GRCh38]
Chr3:52523558 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3044A>G (p.Lys1015Arg) single nucleotide variant not specified [RCV004274237] Chr3:52488536 [GRCh38]
Chr3:52522552 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3176C>T (p.Pro1059Leu) single nucleotide variant not specified [RCV004252641] Chr3:52489398 [GRCh38]
Chr3:52523414 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3047C>A (p.Thr1016Asn) single nucleotide variant not specified [RCV004351148] Chr3:52488539 [GRCh38]
Chr3:52522555 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2240G>C (p.Arg747Pro) single nucleotide variant not specified [RCV004361512] Chr3:52487732 [GRCh38]
Chr3:52521748 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4316G>A (p.Gly1439Asp) single nucleotide variant not specified [RCV004365234] Chr3:52492283 [GRCh38]
Chr3:52526299 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1115G>A (p.Gly372Asp) single nucleotide variant not specified [RCV004341623] Chr3:52478224 [GRCh38]
Chr3:52512240 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3125G>A (p.Arg1042His) single nucleotide variant not specified [RCV004355858] Chr3:52489347 [GRCh38]
Chr3:52523363 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1677C>G (p.Asp559Glu) single nucleotide variant not specified [RCV004338279] Chr3:52485801 [GRCh38]
Chr3:52519817 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.629C>T (p.Pro210Leu) single nucleotide variant not specified [RCV004342694] Chr3:52472358 [GRCh38]
Chr3:52506374 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.532G>A (p.Gly178Arg) single nucleotide variant not specified [RCV004338209] Chr3:52471936 [GRCh38]
Chr3:52505952 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4146C>T (p.Leu1382=) single nucleotide variant not provided [RCV003433624] Chr3:52492113 [GRCh38]
Chr3:52526129 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.2451C>T (p.Ala817=) single nucleotide variant not provided [RCV003433621] Chr3:52487943 [GRCh38]
Chr3:52521959 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.2715C>T (p.Ala905=) single nucleotide variant not provided [RCV003433623] Chr3:52488207 [GRCh38]
Chr3:52522223 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.2583C>A (p.Val861=) single nucleotide variant not provided [RCV003433622] Chr3:52488075 [GRCh38]
Chr3:52522091 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_007184.4(NISCH):c.1532T>C (p.Ile511Thr) single nucleotide variant not specified [RCV004493109] Chr3:52484516 [GRCh38]
Chr3:52518532 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1579G>T (p.Asp527Tyr) single nucleotide variant not specified [RCV004493111] Chr3:52484563 [GRCh38]
Chr3:52518579 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1678G>A (p.Val560Met) single nucleotide variant not specified [RCV004493113] Chr3:52485802 [GRCh38]
Chr3:52519818 [GRCh37]
Chr3:3p21.1		 likely benign
NM_007184.4(NISCH):c.1147G>C (p.Asp383His) single nucleotide variant not specified [RCV004493107] Chr3:52478256 [GRCh38]
Chr3:52512272 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1472C>T (p.Pro491Leu) single nucleotide variant not specified [RCV004493108] Chr3:52480239 [GRCh38]
Chr3:52514255 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1945G>A (p.Val649Met) single nucleotide variant not specified [RCV004493114] Chr3:52487437 [GRCh38]
Chr3:52521453 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2166C>G (p.Ile722Met) single nucleotide variant not specified [RCV004493115] Chr3:52487658 [GRCh38]
Chr3:52521674 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3100G>A (p.Glu1034Lys) single nucleotide variant not specified [RCV004493124] Chr3:52488592 [GRCh38]
Chr3:52522608 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4135G>A (p.Glu1379Lys) single nucleotide variant not specified [RCV004493131] Chr3:52492102 [GRCh38]
Chr3:52526118 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.620A>G (p.Gln207Arg) single nucleotide variant not specified [RCV004493135] Chr3:52472349 [GRCh38]
Chr3:52506365 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2506C>T (p.Arg836Cys) single nucleotide variant not specified [RCV004493118] Chr3:52487998 [GRCh38]
Chr3:52522014 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2675G>A (p.Arg892His) single nucleotide variant not specified [RCV004493120] Chr3:52488167 [GRCh38]
Chr3:52522183 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2788C>T (p.Arg930Cys) single nucleotide variant not specified [RCV004493122] Chr3:52488280 [GRCh38]
Chr3:52522296 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3047C>T (p.Thr1016Ile) single nucleotide variant not specified [RCV004493123] Chr3:52488539 [GRCh38]
Chr3:52522555 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3269C>T (p.Thr1090Met) single nucleotide variant not specified [RCV004493127] Chr3:52489491 [GRCh38]
Chr3:52523507 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3430G>A (p.Glu1144Lys) single nucleotide variant not specified [RCV004493129] Chr3:52489652 [GRCh38]
Chr3:52523668 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3973A>T (p.Ile1325Phe) single nucleotide variant not specified [RCV004493130] Chr3:52491940 [GRCh38]
Chr3:52525956 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.872C>T (p.Thr291Met) single nucleotide variant not specified [RCV004493137] Chr3:52476553 [GRCh38]
Chr3:52510569 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.1646C>T (p.Ala549Val) single nucleotide variant not specified [RCV004493112] Chr3:52484630 [GRCh38]
Chr3:52518646 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3158C>T (p.Pro1053Leu) single nucleotide variant not specified [RCV004493125] Chr3:52489380 [GRCh38]
Chr3:52523396 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4217G>A (p.Arg1406Gln) single nucleotide variant not specified [RCV004493132] Chr3:52492184 [GRCh38]
Chr3:52526200 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2180C>T (p.Ala727Val) single nucleotide variant not specified [RCV004493116] Chr3:52487672 [GRCh38]
Chr3:52521688 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2389G>A (p.Ala797Thr) single nucleotide variant not specified [RCV004493117] Chr3:52487881 [GRCh38]
Chr3:52521897 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.2713G>A (p.Ala905Thr) single nucleotide variant not specified [RCV004493121] Chr3:52488205 [GRCh38]
Chr3:52522221 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3194C>T (p.Ala1065Val) single nucleotide variant not specified [RCV004493126] Chr3:52489416 [GRCh38]
Chr3:52523432 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.3368C>T (p.Ser1123Leu) single nucleotide variant not specified [RCV004493128] Chr3:52489590 [GRCh38]
Chr3:52523606 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.4283A>G (p.Gln1428Arg) single nucleotide variant not specified [RCV004493133] Chr3:52492250 [GRCh38]
Chr3:52526266 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_007184.4(NISCH):c.52G>A (p.Glu18Lys) single nucleotide variant not specified [RCV004493134] Chr3:52455693 [GRCh38]
Chr3:52489709 [GRCh37]
Chr3:3p21.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4564
Count of miRNA genes:1141
Interacting mature miRNAs:1471
Transcripts:ENST00000345716, ENST00000420808, ENST00000460759, ENST00000464280, ENST00000467594, ENST00000474188, ENST00000479054, ENST00000481211, ENST00000485765, ENST00000488157, ENST00000488243, ENST00000488380, ENST00000489895, ENST00000490425
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.

Markers in Region
RH91377  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,515,587 - 52,515,704UniSTSGRCh37
Build 36352,490,627 - 52,490,744RGDNCBI36
Celera352,494,832 - 52,494,949RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,578,136 - 52,578,253UniSTS
GeneMap99-GB4 RH Map3162.7UniSTS
SHGC-32372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,526,930 - 52,527,063UniSTSGRCh37
Build 36352,501,970 - 52,502,103RGDNCBI36
Celera352,506,169 - 52,506,302RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,589,473 - 52,589,606UniSTS
Whitehead-RH Map3214.2UniSTS
GeneMap99-G3 RH Map32250.0UniSTS
NISCH_9238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,526,413 - 52,527,106UniSTSGRCh37
Build 36352,501,453 - 52,502,146RGDNCBI36
Celera352,505,658 - 52,506,345RGD
HuRef352,588,962 - 52,589,649UniSTS
RH17807  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,526,888 - 52,527,038UniSTSGRCh37
Build 36352,501,928 - 52,502,078RGDNCBI36
Celera352,506,127 - 52,506,277RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,589,431 - 52,589,581UniSTS
GeneMap99-GB4 RH Map3162.37UniSTS
WI-18469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,526,955 - 52,527,081UniSTSGRCh37
Build 36352,501,995 - 52,502,121RGDNCBI36
Celera352,506,194 - 52,506,320RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,589,498 - 52,589,624UniSTS
GeneMap99-GB4 RH Map3160.13UniSTS
Whitehead-RH Map3214.2UniSTS
MARC_5975-5976:997299498:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,525,410 - 52,526,113UniSTSGRCh37
Build 36352,500,450 - 52,501,153RGDNCBI36
Celera352,504,655 - 52,505,358RGD
HuRef352,587,959 - 52,588,662UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2423 2840 1673 575 1856 417 4263 2040 3582 382 1444 1584 171 1204 2703 4
Low 11 147 51 47 95 48 92 154 128 36 8 22 1 85 1
Below cutoff 1 1 1 6 1 5 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001276294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001739989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF058290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF082516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI889216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL703940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU177208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB496030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000345716   ⟹   ENSP00000339958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,455,604 - 52,493,068 (+)Ensembl
RefSeq Acc Id: ENST00000420808   ⟹   ENSP00000392484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,455,617 - 52,481,914 (+)Ensembl
RefSeq Acc Id: ENST00000460759
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,484,204 - 52,487,276 (+)Ensembl
RefSeq Acc Id: ENST00000464280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,475,616 - 52,478,583 (+)Ensembl
RefSeq Acc Id: ENST00000467594
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,489,573 - 52,491,577 (+)Ensembl
RefSeq Acc Id: ENST00000474188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,478,221 - 52,480,276 (+)Ensembl
RefSeq Acc Id: ENST00000479054   ⟹   ENSP00000418232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,455,118 - 52,493,068 (+)Ensembl
RefSeq Acc Id: ENST00000481211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,476,298 - 52,478,282 (+)Ensembl
RefSeq Acc Id: ENST00000485765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,480,139 - 52,485,827 (+)Ensembl
RefSeq Acc Id: ENST00000488157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,470,556 - 52,472,373 (+)Ensembl
RefSeq Acc Id: ENST00000488243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,485,785 - 52,487,653 (+)Ensembl
RefSeq Acc Id: ENST00000488380   ⟹   ENSP00000417812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,455,617 - 52,481,910 (+)Ensembl
RefSeq Acc Id: ENST00000489895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,458,692 - 52,493,068 (+)Ensembl
RefSeq Acc Id: ENST00000490425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,470,556 - 52,476,492 (+)Ensembl
RefSeq Acc Id: NM_001276293   ⟹   NP_001263222
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,455,604 - 52,481,910 (+)NCBI
HuRef352,552,184 - 52,589,631 (+)NCBI
CHM1_1352,441,901 - 52,468,281 (+)NCBI
T2T-CHM13v2.0352,488,505 - 52,514,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001276294   ⟹   NP_001263223
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,455,604 - 52,481,910 (+)NCBI
GRCh37352,489,524 - 52,527,088 (+)NCBI
HuRef352,552,184 - 52,589,631 (+)NCBI
CHM1_1352,441,901 - 52,468,281 (+)NCBI
T2T-CHM13v2.0352,488,505 - 52,514,814 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007184   ⟹   NP_009115
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,455,604 - 52,493,068 (+)NCBI
GRCh37352,489,524 - 52,527,088 (+)ENTREZGENE
GRCh37352,489,524 - 52,527,088 (+)NCBI
Build 36352,464,564 - 52,502,128 (+)NCBI Archive
HuRef352,552,184 - 52,589,631 (+)ENTREZGENE
CHM1_1352,441,901 - 52,479,443 (+)NCBI
T2T-CHM13v2.0352,488,505 - 52,525,966 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712955   ⟹   XP_006713018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,480,952 - 52,493,068 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447373   ⟹   XP_047303329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,455,604 - 52,491,498 (+)NCBI
RefSeq Acc Id: XM_054345091   ⟹   XP_054201066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,488,505 - 52,524,402 (+)NCBI
RefSeq Acc Id: XM_054345092   ⟹   XP_054201067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0352,513,856 - 52,525,966 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001263222 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263223 (Get FASTA)   NCBI Sequence Viewer  
  NP_009115 (Get FASTA)   NCBI Sequence Viewer  
  XP_006713018 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201067 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC33104 (Get FASTA)   NCBI Sequence Viewer  
  AAC33321 (Get FASTA)   NCBI Sequence Viewer  
  AAH38102 (Get FASTA)   NCBI Sequence Viewer  
  AAH54494 (Get FASTA)   NCBI Sequence Viewer  
  AAH56900 (Get FASTA)   NCBI Sequence Viewer  
  BAA76819 (Get FASTA)   NCBI Sequence Viewer  
  BAF84087 (Get FASTA)   NCBI Sequence Viewer  
  BAG51306 (Get FASTA)   NCBI Sequence Viewer  
  BAG51321 (Get FASTA)   NCBI Sequence Viewer  
  BAG60023 (Get FASTA)   NCBI Sequence Viewer  
  BAG63739 (Get FASTA)   NCBI Sequence Viewer  
  CAB55920 (Get FASTA)   NCBI Sequence Viewer  
  EAW65228 (Get FASTA)   NCBI Sequence Viewer  
  EAW65229 (Get FASTA)   NCBI Sequence Viewer  
  EAW65230 (Get FASTA)   NCBI Sequence Viewer  
  EAW65231 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000339958
  ENSP00000339958.4
  ENSP00000392484
  ENSP00000392484.2
  ENSP00000417812
  ENSP00000417812.1
  ENSP00000418232.1
GenBank Protein Q9Y2I1 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_009115   ⟸   NM_007184
- Peptide Label: isoform 1
- UniProtKB: Q9Y2I1 (UniProtKB/Swiss-Prot),   Q9UEU4 (UniProtKB/Swiss-Prot),   Q9UES6 (UniProtKB/Swiss-Prot),   Q7Z2X6 (UniProtKB/Swiss-Prot),   Q7L8M3 (UniProtKB/Swiss-Prot),   Q6PIB4 (UniProtKB/Swiss-Prot),   Q6PGP3 (UniProtKB/Swiss-Prot),   C9J245 (UniProtKB/Swiss-Prot),   Q9UFW3 (UniProtKB/Swiss-Prot),   B3KNF9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263222   ⟸   NM_001276293
- Peptide Label: isoform 2
- UniProtKB: C9J715 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263223   ⟸   NM_001276294
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: XP_006713018   ⟸   XM_006712955
- Peptide Label: isoform X2
- UniProtKB: B4DYH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000339958   ⟸   ENST00000345716
RefSeq Acc Id: ENSP00000418232   ⟸   ENST00000479054
RefSeq Acc Id: ENSP00000417812   ⟸   ENST00000488380
RefSeq Acc Id: ENSP00000392484   ⟸   ENST00000420808
RefSeq Acc Id: XP_047303329   ⟸   XM_047447373
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201066   ⟸   XM_054345091
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054201067   ⟸   XM_054345092
- Peptide Label: isoform X2
Protein Domains
PX

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y2I1-F1-model_v2 AlphaFold Q9Y2I1 1-1504 view protein structure

Promoters
RGD ID:6864656
Promoter ID:EPDNEW_H5493
Type:initiation region
Name:NISCH_1
Description:nischarin
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
GRCh38352,455,604 - 52,455,664EPDNEW
RGD ID:6801344
Promoter ID:HG_KWN:45230
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_007184,   UC003DEC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,463,796 - 52,464,737 (+)MPROMDB
RGD ID:6801346
Promoter ID:HG_KWN:45231
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid,   NB4
Transcripts:UC003DEE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,492,459 - 52,492,959 (+)MPROMDB
RGD ID:6801214
Promoter ID:HG_KWN:45232
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:UC003DEG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,496,036 - 52,497,117 (+)MPROMDB
RGD ID:6801217
Promoter ID:HG_KWN:45233
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:UC003DEH.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,499,261 - 52,499,787 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18006 AgrOrtholog
COSMIC NISCH COSMIC
Ensembl Genes ENSG00000010322 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000345716 ENTREZGENE
  ENST00000345716.9 UniProtKB/Swiss-Prot
  ENST00000420808 ENTREZGENE
  ENST00000420808.2 UniProtKB/Swiss-Prot
  ENST00000479054.5 UniProtKB/Swiss-Prot
  ENST00000488380 ENTREZGENE
  ENST00000488380.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1520.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.80.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000010322 GTEx
HGNC ID HGNC:18006 ENTREZGENE
Human Proteome Map NISCH Human Proteome Map
InterPro Leu-rich_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Leu-rich_rpt_4 UniProtKB/TrEMBL
  Leu-rich_rpt_typical-subtyp UniProtKB/TrEMBL
  LRR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nischarin_PX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Phox UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PX_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11188 UniProtKB/Swiss-Prot
NCBI Gene 11188 ENTREZGENE
OMIM 615507 OMIM
PANTHER NISCHARIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NISCHARIN RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRR_4 UniProtKB/TrEMBL
  PF00787 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31635 PharmGKB
PRINTS LEURICHRPT UniProtKB/TrEMBL
PROSITE LRR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50195 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LRR_SD22 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRR_TYP UniProtKB/TrEMBL
  SM00312 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Outer arm dynein light chain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF64268 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B3KNF9 ENTREZGENE, UniProtKB/TrEMBL
  B4DYH7 ENTREZGENE, UniProtKB/TrEMBL
  C9J245 ENTREZGENE
  C9J715 ENTREZGENE, UniProtKB/TrEMBL
  NISCH_HUMAN UniProtKB/Swiss-Prot
  Q6PGP3 ENTREZGENE
  Q6PIB4 ENTREZGENE
  Q7L8M3 ENTREZGENE
  Q7Z2X6 ENTREZGENE
  Q9UES6 ENTREZGENE
  Q9UEU4 ENTREZGENE
  Q9UFW3 ENTREZGENE
  Q9Y2I1 ENTREZGENE
UniProt Secondary C9J245 UniProtKB/Swiss-Prot
  Q6PGP3 UniProtKB/Swiss-Prot
  Q6PIB4 UniProtKB/Swiss-Prot
  Q7L8M3 UniProtKB/Swiss-Prot
  Q7Z2X6 UniProtKB/Swiss-Prot
  Q9UES6 UniProtKB/Swiss-Prot
  Q9UEU4 UniProtKB/Swiss-Prot
  Q9UFW3 UniProtKB/Swiss-Prot