GRIK1 (glutamate ionotropic receptor kainate type subunit 1) - Rat Genome Database

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Gene: GRIK1 (glutamate ionotropic receptor kainate type subunit 1) Homo sapiens
Analyze
Symbol: GRIK1
Name: glutamate ionotropic receptor kainate type subunit 1
RGD ID: 731546
HGNC Page HGNC:4579
Description: Enables kainate selective glutamate receptor activity. Predicted to be involved in glutamatergic synaptic transmission and modulation of chemical synaptic transmission. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; modulation of chemical synaptic transmission; and monoatomic cation transmembrane transport. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in childhood absence epilepsy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EAA3; EEA3; excitatory amino acid receptor 3; GLR5; GluK1; GluK1(del_e2); gluR-5; GLUR5; glutamate receptor 5; glutamate receptor ionotropic, kainate 1; glutamate receptor, ionotropic kainate 1; glutamate receptor, ionotropic, kainate 1
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
GRCh382129,536,933 - 29,939,996 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,536,933 - 29,940,033 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,909,254 - 31,312,314 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,831,125 - 30,234,153 (-)NCBINCBI36Build 36hg18NCBI36
Build 342129,831,126 - 30,234,153NCBI
Celera2116,092,373 - 16,495,412 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2116,317,387 - 16,721,110 (-)NCBIHuRef
CHM1_12130,470,770 - 30,873,809 (-)NCBICHM1_1
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBIT2T-CHM13v2.0
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

Biological Process

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Kainate receptors are involved in synaptic plasticity. Bortolotto ZA, etal., Nature. 1999 Nov 18;402(6759):297-301.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Selective antagonism of GluR5 kainate-receptor-mediated synaptic currents by topiramate in rat basolateral amygdala neurons. Gryder DS and Rogawski MA, J Neurosci 2003 Aug 6;23(18):7069-74.
4. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. GluR5 kainate receptors, seizures, and the amygdala. Rogawski MA, etal., Ann N Y Acad Sci. 2003 Apr;985:150-62.
9. Allelic association of juvenile absence epilepsy with a GluR5 kainate receptor gene (GRIK1) polymorphism. Sander T, etal., Am J Med Genet 1997 Jul 25;74(4):416-21.
10. Association study of polymorphisms in the GluR5 kainate receptor gene (GRIK1) with schizophrenia. Shibata H, etal., Psychiatr Genet. 2001 Sep;11(3):139-44.
Additional References at PubMed
PMID:7696618   PMID:8163463   PMID:8260617   PMID:8419920   PMID:8468067   PMID:8589992   PMID:9069287   PMID:9335499   PMID:9808458   PMID:10023812   PMID:10828597   PMID:10830953  
PMID:11418862   PMID:11891216   PMID:11943148   PMID:12477932   PMID:12597860   PMID:14527949   PMID:15974569   PMID:16221857   PMID:17698324   PMID:17903305   PMID:18519826   PMID:18821565  
PMID:19086053   PMID:19095219   PMID:19320626   PMID:19331489   PMID:19342380   PMID:19874574   PMID:19893199   PMID:19941835   PMID:20201926   PMID:20339536   PMID:20379614   PMID:20453000  
PMID:20494980   PMID:20602751   PMID:20848601   PMID:20859245   PMID:20978832   PMID:21873635   PMID:22191429   PMID:22446040   PMID:22730074   PMID:22807686   PMID:22931243   PMID:23453885  
PMID:23685007   PMID:24024966   PMID:24525690   PMID:24786948   PMID:24978347   PMID:25496338   PMID:25941919   PMID:26277340   PMID:26289945   PMID:27447243   PMID:28298427   PMID:28611215  
PMID:29058671   PMID:29987050   PMID:31343991   PMID:34060082   PMID:34100982   PMID:35914814   PMID:36323684  


Genomics

Comparative Map Data
GRIK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382129,536,933 - 29,939,996 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2129,536,933 - 29,940,033 (-)EnsemblGRCh38hg38GRCh38
GRCh372130,909,254 - 31,312,314 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362129,831,125 - 30,234,153 (-)NCBINCBI36Build 36hg18NCBI36
Build 342129,831,126 - 30,234,153NCBI
Celera2116,092,373 - 16,495,412 (-)NCBICelera
Cytogenetic Map21q21.3NCBI
HuRef2116,317,387 - 16,721,110 (-)NCBIHuRef
CHM1_12130,470,770 - 30,873,809 (-)NCBICHM1_1
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBIT2T-CHM13v2.0
Grik1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391687,692,789 - 88,087,751 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1687,692,788 - 88,087,153 (-)EnsemblGRCm39 Ensembl
GRCm381687,895,901 - 88,290,863 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1687,895,900 - 88,290,265 (-)EnsemblGRCm38mm10GRCm38
MGSCv371687,896,142 - 88,290,503 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361687,784,754 - 88,179,102 (-)NCBIMGSCv36mm8
Celera1688,093,673 - 88,486,750 (-)NCBICelera
Cytogenetic Map16C3.3NCBI
cM Map1650.23NCBI
Grik1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81140,655,974 - 41,056,966 (-)NCBIGRCr8
mRatBN7.21127,169,739 - 27,571,131 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1127,169,740 - 27,570,645 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1135,873,718 - 36,274,020 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01128,573,961 - 28,974,261 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01127,741,791 - 28,141,806 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01127,811,954 - 28,213,940 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1127,811,957 - 27,971,359 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01131,426,627 - 31,828,737 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41127,703,874 - 28,106,450 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11127,703,874 - 28,106,450 (-)NCBI
Celera1126,906,345 - 27,304,585 (-)NCBICelera
Cytogenetic Map11q11NCBI
Grik1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540728,899,899 - 29,308,470 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540728,899,643 - 29,308,936 (-)NCBIChiLan1.0ChiLan1.0
GRIK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22225,727,337 - 26,107,844 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12120,585,887 - 20,966,442 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02115,976,931 - 16,357,578 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12129,363,972 - 29,743,940 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2129,364,269 - 29,743,379 (-)Ensemblpanpan1.1panPan2
GRIK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13124,477,319 - 24,839,502 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3124,478,696 - 24,839,434 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3124,471,425 - 24,648,177 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03124,592,133 - 24,768,924 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3124,592,138 - 24,953,198 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13124,542,198 - 24,719,018 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03124,544,158 - 24,720,948 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03125,015,707 - 25,192,582 (-)NCBIUU_Cfam_GSD_1.0
Grik1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497124,931,282 - 25,310,559 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650012,157,765 - 12,536,224 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650012,157,215 - 12,536,555 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GRIK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13192,877,606 - 193,294,952 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113192,877,707 - 193,296,954 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213203,411,219 - 203,897,606 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GRIK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1262,286,828 - 62,692,061 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660714,856,919 - 5,276,564 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Grik1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474517,592,874 - 17,986,759 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474517,592,587 - 17,986,863 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GRIK1
67 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21q21.3-22.11(chr21:29850105-30680142)x3 copy number gain See cases [RCV000050615] Chr21:29850105..30680142 [GRCh38]
Chr21:31222422..32052460 [GRCh37]
Chr21:30144293..30974331 [NCBI36]
Chr21:21q21.3-22.11		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1 copy number loss See cases [RCV000052799] Chr21:14000720..30903065 [GRCh38]
Chr21:15373041..32275384 [GRCh37]
Chr21:14294912..31197255 [NCBI36]
Chr21:21q11.2-22.11		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
NM_000830.3(GRIK1):c.2288G>A (p.Arg763Lys) single nucleotide variant Malignant melanoma [RCV000072805] Chr21:29561692 [GRCh38]
Chr21:30934013 [GRCh37]
Chr21:29855884 [NCBI36]
Chr21:21q21.3		 not provided
NM_000830.3(GRIK1):c.2447G>A (p.Gly816Glu) single nucleotide variant Malignant melanoma [RCV000063817] Chr21:29555212 [GRCh38]
Chr21:30927533 [GRCh37]
Chr21:29849404 [NCBI36]
Chr21:21q21.3		 not provided
NM_000830.3(GRIK1):c.1098+6649A>G single nucleotide variant Lung cancer [RCV000101915] Chr21:29636177 [GRCh38]
Chr21:31008497 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3		 uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:19423169-31841150)x1 copy number loss See cases [RCV000142217] Chr21:19423169..31841150 [GRCh38]
Chr21:20795486..33213462 [GRCh37]
Chr21:19717357..32135333 [NCBI36]
Chr21:21q21.1-22.11		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3		 pathogenic
GRCh38/hg38 21q21.3(chr21:26773248-29573178)x1 copy number loss See cases [RCV000143779] Chr21:26773248..29573178 [GRCh38]
Chr21:28145567..30945498 [GRCh37]
Chr21:27067438..29867369 [NCBI36]
Chr21:21q21.3		 uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3		 pathogenic
GRCh38/hg38 21q21.1-22.11(chr21:21754822-32380347) copy number loss Monosomy 21 [RCV000225665] Chr21:21754822..32380347 [GRCh38]
Chr21:21q21.1-22.11		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3 copy number gain Complete trisomy 21 syndrome [RCV002284306] Chr21:14420615..48080926 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3(chr21:30847948-31232475)x1 copy number loss See cases [RCV000510464] Chr21:30847948..31232475 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_001330994.2(GRIK1):c.401G>A (p.Arg134His) single nucleotide variant Inborn genetic diseases [RCV003263686] Chr21:29689871 [GRCh38]
Chr21:31062191 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.673T>A (p.Phe225Ile) single nucleotide variant Inborn genetic diseases [RCV003256335] Chr21:29673036 [GRCh38]
Chr21:31045356 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.862C>A (p.Pro288Thr) single nucleotide variant Inborn genetic diseases [RCV003299180] Chr21:29651210 [GRCh38]
Chr21:31023530 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1958G>A (p.Gly653Glu) single nucleotide variant Inborn genetic diseases [RCV003277787] Chr21:29577136 [GRCh38]
Chr21:30949456 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31276879-32826955)x1 copy number loss See cases [RCV000512419] Chr21:31276879..32826955 [GRCh37]
Chr21:21q21.3-22.11		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31175434-31891623)x3 copy number gain not provided [RCV000684149] Chr21:31175434..31891623 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3(chr21:30685776-31326650)x1 copy number loss not provided [RCV000684148] Chr21:30685776..31326650 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31990799)x3 copy number gain not provided [RCV000684153] Chr21:31171624..31990799 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:30214872-34896962)x3 copy number gain not provided [RCV000741530] Chr21:30214872..34896962 [GRCh37]
Chr21:21q21.3-22.11		 pathogenic
GRCh37/hg19 21q21.3(chr21:30986448-30987469)x0 copy number loss not provided [RCV000741532] Chr21:30986448..30987469 [GRCh37]
Chr21:21q21.3		 benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3		 pathogenic
NM_001330994.2(GRIK1):c.987C>T (p.Tyr329=) single nucleotide variant not provided [RCV000936451] Chr21:29642937 [GRCh38]
Chr21:31015257 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.1284C>T (p.Asn428=) single nucleotide variant not provided [RCV000925330] Chr21:29591193 [GRCh38]
Chr21:30963513 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.2097G>A (p.Ala699=) single nucleotide variant not provided [RCV000929567] Chr21:29576997 [GRCh38]
Chr21:30949317 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.1251+3T>A single nucleotide variant not provided [RCV000967571] Chr21:29596523 [GRCh38]
Chr21:30968843 [GRCh37]
Chr21:21q21.3		 benign
NM_001330994.2(GRIK1):c.2565A>T (p.Gly855=) single nucleotide variant not provided [RCV000914888] Chr21:29555094 [GRCh38]
Chr21:30927415 [GRCh37]
Chr21:21q21.3		 benign
NM_001330994.2(GRIK1):c.547C>T (p.Leu183=) single nucleotide variant not provided [RCV000968499] Chr21:29673162 [GRCh38]
Chr21:31045482 [GRCh37]
Chr21:21q21.3		 benign
NM_001330994.2(GRIK1):c.1720C>T (p.Leu574=) single nucleotide variant not provided [RCV000915070] Chr21:29587439 [GRCh38]
Chr21:30959759 [GRCh37]
Chr21:21q21.3		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3 copy number gain not provided [RCV000849143] Chr21:31171623..32010342 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171623-32010342)x3 copy number gain not provided [RCV000847078] Chr21:31171623..32010342 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001330994.2(GRIK1):c.414C>G (p.Pro138=) single nucleotide variant not provided [RCV000918031] Chr21:29689858 [GRCh38]
Chr21:31062178 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.2082G>A (p.Lys694=) single nucleotide variant not provided [RCV000980312] Chr21:29577012 [GRCh38]
Chr21:30949332 [GRCh37]
Chr21:21q21.3		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31153738-31637350)x1 copy number loss not provided [RCV001007121] Chr21:31153738..31637350 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001330994.2(GRIK1):c.2001G>A (p.Thr667=) single nucleotide variant not provided [RCV000908112] Chr21:29577093 [GRCh38]
Chr21:30949413 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.924C>T (p.Pro308=) single nucleotide variant not provided [RCV000897739] Chr21:29651148 [GRCh38]
Chr21:31023468 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.912C>T (p.Ala304=) single nucleotide variant not provided [RCV000895462] Chr21:29651160 [GRCh38]
Chr21:31023480 [GRCh37]
Chr21:21q21.3		 benign
NM_001330994.2(GRIK1):c.2607+1349C>T single nucleotide variant not provided [RCV000964087] Chr21:29553703 [GRCh38]
Chr21:30926024 [GRCh37]
Chr21:21q21.3		 benign
NM_001330994.2(GRIK1):c.1161T>C (p.Asp387=) single nucleotide variant not provided [RCV000908256] Chr21:29598875 [GRCh38]
Chr21:30971195 [GRCh37]
Chr21:21q21.3		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:27826100-32468109)x1 copy number loss not provided [RCV001007118] Chr21:27826100..32468109 [GRCh37]
Chr21:21q21.3-22.11		 pathogenic
NM_001330994.2(GRIK1):c.1407A>G (p.Leu469=) single nucleotide variant not provided [RCV000913100] Chr21:29589001 [GRCh38]
Chr21:30961321 [GRCh37]
Chr21:21q21.3		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31171624-32002762)x3 copy number gain not provided [RCV001007123] Chr21:31171624..32002762 [GRCh37]
Chr21:21q21.3-22.11		 likely benign
GRCh37/hg19 21q21.3-22.11(chr21:31166091-31690560)x1 copy number loss not provided [RCV001007122] Chr21:31166091..31690560 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31172702-32008007)x3 copy number gain See cases [RCV001194523] Chr21:31172702..32008007 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31965248)x3 copy number gain not provided [RCV001007124] Chr21:31171624..31965248 [GRCh37]
Chr21:21q21.3-22.11		 likely benign|uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32484078)x1 copy number loss not provided [RCV001259406] Chr21:31119490..32484078 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3 copy number gain See cases [RCV001780078] Chr21:1..48129895 [GRCh37]
Chr21:21p13-q22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31119490-32485971)x1 copy number loss not provided [RCV001829261] Chr21:31119490..32485971 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372) copy number gain not specified [RCV002052723] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445) copy number loss not specified [RCV002052728] Chr21:27185913..35853445 [GRCh37]
Chr21:21q21.3-22.12		 uncertain significance
GRCh37/hg19 21q21.3(chr21:31006832-31237793) copy number loss not specified [RCV002052732] Chr21:31006832..31237793 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31263693-31555044) copy number loss not specified [RCV002052733] Chr21:31263693..31555044 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV001829203] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372) copy number gain not specified [RCV002052724] Chr21:15041209..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.3-22.11(chr21:31171624-31891623)x3 copy number gain not provided [RCV001836596] Chr21:31171624..31891623 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001330994.2(GRIK1):c.2846C>A (p.Ala949Glu) single nucleotide variant not specified [RCV002247874] Chr21:29537234 [GRCh38]
Chr21:30909555 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:30909762-32182012)x1 copy number loss not provided [RCV002473509] Chr21:30909762..32182012 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001330994.2(GRIK1):c.346G>A (p.Val116Ile) single nucleotide variant Inborn genetic diseases [RCV002945176] Chr21:29689926 [GRCh38]
Chr21:31062246 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.537C>A (p.Asp179Glu) single nucleotide variant Inborn genetic diseases [RCV002969612] Chr21:29689735 [GRCh38]
Chr21:31062055 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3(chr21:30911091-31189310)x1 copy number loss not provided [RCV002475735] Chr21:30911091..31189310 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.868G>A (p.Val290Met) single nucleotide variant Inborn genetic diseases [RCV002993181] Chr21:29651204 [GRCh38]
Chr21:31023524 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.482T>G (p.Ile161Ser) single nucleotide variant Inborn genetic diseases [RCV002732505] Chr21:29689790 [GRCh38]
Chr21:31062110 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2338G>A (p.Gly780Arg) single nucleotide variant Inborn genetic diseases [RCV002773550] Chr21:29561642 [GRCh38]
Chr21:30933963 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2607+1357T>C single nucleotide variant Inborn genetic diseases [RCV002688805] Chr21:29553695 [GRCh38]
Chr21:30926016 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3-22.11(chr21:29243314-32472073)x3 copy number gain not provided [RCV002475687] Chr21:29243314..32472073 [GRCh37]
Chr21:21q21.3-22.11		 uncertain significance
NM_001330994.2(GRIK1):c.1004C>T (p.Ser335Leu) single nucleotide variant Inborn genetic diseases [RCV002997090] Chr21:29642920 [GRCh38]
Chr21:31015240 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.27G>C (p.Gln9His) single nucleotide variant Inborn genetic diseases [RCV002757877] Chr21:29939474 [GRCh38]
Chr21:31311792 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2518A>G (p.Ile840Val) single nucleotide variant Inborn genetic diseases [RCV002799577] Chr21:29555141 [GRCh38]
Chr21:30927462 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2171T>C (p.Met724Thr) single nucleotide variant Inborn genetic diseases [RCV002924599] Chr21:29561809 [GRCh38]
Chr21:30934130 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1274G>A (p.Ser425Asn) single nucleotide variant Inborn genetic diseases [RCV002737193] Chr21:29591203 [GRCh38]
Chr21:30963523 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.43A>T (p.Arg15Trp) single nucleotide variant Inborn genetic diseases [RCV002911878] Chr21:29939458 [GRCh38]
Chr21:31311776 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1009C>T (p.Arg337Trp) single nucleotide variant Inborn genetic diseases [RCV002698107] Chr21:29642915 [GRCh38]
Chr21:31015235 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.976G>A (p.Asp326Asn) single nucleotide variant Inborn genetic diseases [RCV002788082] Chr21:29642948 [GRCh38]
Chr21:31015268 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.608G>A (p.Arg203His) single nucleotide variant Inborn genetic diseases [RCV002709362] Chr21:29673101 [GRCh38]
Chr21:31045421 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.554G>A (p.Arg185His) single nucleotide variant Inborn genetic diseases [RCV002892229] Chr21:29673155 [GRCh38]
Chr21:31045475 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1063C>T (p.Arg355Cys) single nucleotide variant Inborn genetic diseases [RCV002664402] Chr21:29642861 [GRCh38]
Chr21:31015181 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2114C>T (p.Thr705Ile) single nucleotide variant Inborn genetic diseases [RCV002787573] Chr21:29576980 [GRCh38]
Chr21:30949300 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2252T>C (p.Leu751Pro) single nucleotide variant Inborn genetic diseases [RCV002921727] Chr21:29561728 [GRCh38]
Chr21:30934049 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2042C>T (p.Ser681Phe) single nucleotide variant Inborn genetic diseases [RCV002792680] Chr21:29577052 [GRCh38]
Chr21:30949372 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.20T>C (p.Leu7Pro) single nucleotide variant Inborn genetic diseases [RCV002717521] Chr21:29939481 [GRCh38]
Chr21:31311799 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2777A>G (p.Lys926Arg) single nucleotide variant Inborn genetic diseases [RCV002680529] Chr21:29537303 [GRCh38]
Chr21:30909624 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.496C>T (p.Leu166Phe) single nucleotide variant Inborn genetic diseases [RCV003256700] Chr21:29689776 [GRCh38]
Chr21:31062096 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2054C>T (p.Ser685Leu) single nucleotide variant Inborn genetic diseases [RCV003217507] Chr21:29577040 [GRCh38]
Chr21:30949360 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1315A>C (p.Asn439His) single nucleotide variant Inborn genetic diseases [RCV003214685] Chr21:29591162 [GRCh38]
Chr21:30963482 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2607+1366G>A single nucleotide variant Inborn genetic diseases [RCV003211853] Chr21:29553686 [GRCh38]
Chr21:30926007 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.2822G>T (p.Arg941Leu) single nucleotide variant Inborn genetic diseases [RCV003192148] Chr21:29537258 [GRCh38]
Chr21:30909579 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.433T>G (p.Leu145Val) single nucleotide variant Inborn genetic diseases [RCV003198291] Chr21:29689839 [GRCh38]
Chr21:31062159 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.925G>A (p.Glu309Lys) single nucleotide variant Inborn genetic diseases [RCV003196537] Chr21:29651147 [GRCh38]
Chr21:31023467 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.1735T>C (p.Trp579Arg) single nucleotide variant Inborn genetic diseases [RCV003308792] Chr21:29587424 [GRCh38]
Chr21:30959744 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.10G>C (p.Gly4Arg) single nucleotide variant Inborn genetic diseases [RCV003354300] Chr21:29939491 [GRCh38]
Chr21:31311809 [GRCh37]
Chr21:21q21.3		 likely benign
NM_001330994.2(GRIK1):c.2095G>A (p.Ala699Thr) single nucleotide variant Inborn genetic diseases [RCV003365263] Chr21:29576999 [GRCh38]
Chr21:30949319 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.27G>T (p.Gln9His) single nucleotide variant Inborn genetic diseases [RCV003348219] Chr21:29939474 [GRCh38]
Chr21:31311792 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.562G>A (p.Glu188Lys) single nucleotide variant Inborn genetic diseases [RCV003386229] Chr21:29673147 [GRCh38]
Chr21:31045467 [GRCh37]
Chr21:21q21.3		 uncertain significance
NM_001330994.2(GRIK1):c.809A>G (p.Tyr270Cys) single nucleotide variant Inborn genetic diseases [RCV003369790] Chr21:29651263 [GRCh38]
Chr21:31023583 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3(chr21:31006833-31237793)x1 copy number loss not provided [RCV003483377] Chr21:31006833..31237793 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3 copy number gain not provided [RCV003485218] Chr21:15006458..45674637 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
GRCh37/hg19 21q21.1-22.11(chr21:20408138-32852758)x3 copy number gain not provided [RCV003485220] Chr21:20408138..32852758 [GRCh37]
Chr21:21q21.1-22.11		 pathogenic
GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3 copy number gain not specified [RCV003986149] Chr21:30685776..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q21.3(chr21:31006833-31237793)x1 copy number loss not specified [RCV003986167] Chr21:31006833..31237793 [GRCh37]
Chr21:21q21.3		 uncertain significance
GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3 copy number gain not specified [RCV003986152] Chr21:26929299..48097372 [GRCh37]
Chr21:21q21.3-22.3		 pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1144
Count of miRNA genes:424
Interacting mature miRNAs:453
Transcripts:ENST00000309434, ENST00000327783, ENST00000389124, ENST00000389125, ENST00000399907, ENST00000399909, ENST00000399913, ENST00000399914, ENST00000472429, ENST00000535441
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
SHGC-79762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,915,987 - 30,916,272UniSTSGRCh37
Build 362129,837,858 - 29,838,143RGDNCBI36
Celera2116,099,104 - 16,099,389RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,324,115 - 16,324,400UniSTS
TNG Radiation Hybrid Map218127.0UniSTS
SHGC-81790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,227,506 - 31,227,833UniSTSGRCh37
Build 362130,149,377 - 30,149,704RGDNCBI36
Celera2116,410,616 - 16,410,943RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,636,274 - 16,636,601UniSTS
TNG Radiation Hybrid Map218231.0UniSTS
RH122011  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,170,491 - 31,170,702UniSTSGRCh37
Build 362130,092,362 - 30,092,573RGDNCBI36
Celera2116,353,612 - 16,353,823RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,578,550 - 16,578,761UniSTS
TNG Radiation Hybrid Map218209.0UniSTS
RH123847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,171,021 - 31,171,303UniSTSGRCh37
Build 362130,092,892 - 30,093,174RGDNCBI36
Celera2116,354,142 - 16,354,424RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,579,080 - 16,579,362UniSTS
TNG Radiation Hybrid Map218209.0UniSTS
D21S213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,200,227 - 31,200,373UniSTSGRCh37
Build 362130,122,098 - 30,122,244RGDNCBI36
Celera2116,383,348 - 16,383,494RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,609,035 - 16,609,181UniSTS
D21S300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,147,095 - 31,147,282UniSTSGRCh37
GRCh372131,147,098 - 31,147,358UniSTSGRCh37
Build 362130,068,969 - 30,069,229RGDNCBI36
Celera2116,330,222 - 16,330,482RGD
Celera2116,330,219 - 16,330,406UniSTS
Cytogenetic Map21q22.11UniSTS
TNG Radiation Hybrid Map218200.0UniSTS
Stanford-G3 RH Map21663.0UniSTS
NCBI RH Map21204.9UniSTS
D21S1685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,285,016 - 31,285,158UniSTSGRCh37
Build 362130,206,887 - 30,207,029RGDNCBI36
Celera2116,468,138 - 16,468,280RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,693,837 - 16,693,979UniSTS
D21S1699  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,054,741 - 31,054,836UniSTSGRCh37
Build 362129,976,612 - 29,976,707RGDNCBI36
Celera2116,237,865 - 16,237,960RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,462,871 - 16,462,966UniSTS
D21S1703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,248,934 - 31,249,050UniSTSGRCh37
Build 362130,170,805 - 30,170,921RGDNCBI36
Celera2116,432,057 - 16,432,173RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,657,717 - 16,657,833UniSTS
GDB:201820  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,966,452 - 30,966,584UniSTSGRCh37
Build 362129,888,323 - 29,888,455RGDNCBI36
Celera2116,149,567 - 16,149,699RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,374,583 - 16,374,715UniSTS
GDB:201821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,056,534 - 31,056,651UniSTSGRCh37
Build 362129,978,405 - 29,978,522RGDNCBI36
Celera2116,239,658 - 16,239,775RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,464,664 - 16,464,781UniSTS
GDB:201822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,969,209 - 30,969,352UniSTSGRCh37
Build 362129,891,080 - 29,891,223RGDNCBI36
Celera2116,152,324 - 16,152,467RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,377,341 - 16,377,484UniSTS
SHGC-105746  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,227,387 - 31,227,701UniSTSGRCh37
Build 362130,149,258 - 30,149,572RGDNCBI36
Celera2116,410,497 - 16,410,811RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,636,155 - 16,636,469UniSTS
TNG Radiation Hybrid Map218243.0UniSTS
SHGC-170298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,271,779 - 31,272,068UniSTSGRCh37
Build 362130,193,650 - 30,193,939RGDNCBI36
Celera2116,454,902 - 16,455,191RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,680,600 - 16,680,889UniSTS
TNG Radiation Hybrid Map218267.0UniSTS
SHGC-170300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,172,572 - 31,172,919UniSTSGRCh37
Build 362130,094,443 - 30,094,790RGDNCBI36
Celera2116,355,693 - 16,356,040RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,580,627 - 16,580,974UniSTS
TNG Radiation Hybrid Map218212.0UniSTS
SHGC-170302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,072,501 - 31,072,789UniSTSGRCh37
Build 362129,994,372 - 29,994,660RGDNCBI36
Celera2116,255,631 - 16,255,919RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,480,638 - 16,480,926UniSTS
TNG Radiation Hybrid Map218179.0UniSTS
SHGC-170304  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,971,629 - 30,971,930UniSTSGRCh37
Build 362129,893,500 - 29,893,801RGDNCBI36
Celera2116,154,744 - 16,155,045RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,379,761 - 16,380,062UniSTS
TNG Radiation Hybrid Map218142.0UniSTS
SHGC-52073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,986,560 - 30,986,723UniSTSGRCh37
Build 362129,908,431 - 29,908,594RGDNCBI36
Celera2116,169,676 - 16,169,839RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,394,686 - 16,394,849UniSTS
TNG Radiation Hybrid Map218050.0UniSTS
D5S1704  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,986,524 - 30,986,723UniSTSGRCh37
Build 362129,908,395 - 29,908,594RGDNCBI36
Celera2116,169,640 - 16,169,839RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,394,650 - 16,394,849UniSTS
Whitehead-YAC Contig Map5 UniSTS
SHGC-170155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,174,685 - 31,174,969UniSTSGRCh37
Build 362130,096,556 - 30,096,840RGDNCBI36
Celera2116,357,806 - 16,358,090RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,583,495 - 16,583,779UniSTS
TNG Radiation Hybrid Map218212.0UniSTS
SHGC-170157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,073,739 - 31,074,029UniSTSGRCh37
Build 362129,995,610 - 29,995,900RGDNCBI36
Celera2116,256,869 - 16,257,159RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,481,876 - 16,482,166UniSTS
TNG Radiation Hybrid Map218179.0UniSTS
D21S1236E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,958,629 - 30,958,720UniSTSGRCh37
Build 362129,880,500 - 29,880,591RGDNCBI36
Celera2116,141,744 - 16,141,835RGD
HuRef2116,366,760 - 16,366,851UniSTS
D21S1845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,269,713 - 31,269,869UniSTSGRCh37
Build 362130,191,584 - 30,191,740RGDNCBI36
Celera2116,452,836 - 16,452,992RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,678,534 - 16,678,690UniSTS
L17771  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,067,698 - 31,067,912UniSTSGRCh37
Build 362129,989,569 - 29,989,783RGDNCBI36
Celera2116,250,824 - 16,251,042RGD
HuRef2116,475,831 - 16,476,049UniSTS
D21S2054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,056,537 - 31,056,709UniSTSGRCh37
Build 362129,978,408 - 29,978,580RGDNCBI36
Celera2116,239,661 - 16,239,833RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,464,667 - 16,464,839UniSTS
Marshfield Genetic Map2127.4UniSTS
deCODE Assembly Map2131.26UniSTS
SHGC-52133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,949,735 - 30,949,827UniSTSGRCh37
Build 362129,871,606 - 29,871,698RGDNCBI36
Celera2116,132,850 - 16,132,942RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,357,870 - 16,357,962UniSTS
TNG Radiation Hybrid Map218058.0UniSTS
RH119595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,909,957 - 30,910,155UniSTSGRCh37
Build 362129,831,828 - 29,832,026RGDNCBI36
Celera2116,093,076 - 16,093,274RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,318,090 - 16,318,288UniSTS
GeneMap99-GB4 RH Map21146.84UniSTS
STS-N32079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372131,002,865 - 31,002,985UniSTSGRCh37
Build 362129,924,736 - 29,924,856RGDNCBI36
Celera2116,185,988 - 16,186,108RGD
Cytogenetic Map21q22.11UniSTS
HuRef2116,410,992 - 16,411,112UniSTS
TNG Radiation Hybrid Map218042.0UniSTS
GeneMap99-GB4 RH Map21144.61UniSTS
GRIK1_3151  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,909,146 - 30,909,619UniSTSGRCh37
Build 362129,831,017 - 29,831,490RGDNCBI36
Celera2116,092,265 - 16,092,738RGD
HuRef2116,317,279 - 16,317,752UniSTS
RH71358  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372130,925,968 - 30,927,449UniSTSGRCh37
Celera2116,109,085 - 16,110,566UniSTS
Cytogenetic Map21q22.11UniSTS
HuRef2116,334,091 - 16,335,572UniSTS
GeneMap99-GB4 RH Map21147.02UniSTS
D21S300  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.11UniSTS


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
High
Medium 26 4 325 2 16 6
Low 465 63 175 34 340 34 1127 113 2724 50 727 128 3 1 164 663 2
Below cutoff 1870 2799 1469 553 1463 395 3141 2006 645 309 645 1393 164 1032 2076

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001393426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001410706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054324437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA404271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ249208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK014575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC341703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U16125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000327783   ⟹   ENSP00000327687
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,536,933 - 29,939,996 (-)Ensembl
RefSeq Acc Id: ENST00000389124   ⟹   ENSP00000373776
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,537,706 - 29,939,532 (-)Ensembl
RefSeq Acc Id: ENST00000389125   ⟹   ENSP00000373777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,536,933 - 29,939,625 (-)Ensembl
RefSeq Acc Id: ENST00000399907   ⟹   ENSP00000382791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,550,947 - 29,939,996 (-)Ensembl
RefSeq Acc Id: ENST00000399909   ⟹   ENSP00000382793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,553,252 - 29,939,912 (-)Ensembl
RefSeq Acc Id: ENST00000399913   ⟹   ENSP00000382797
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,536,933 - 29,939,674 (-)Ensembl
RefSeq Acc Id: ENST00000399914   ⟹   ENSP00000382798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,536,933 - 29,940,022 (-)Ensembl
RefSeq Acc Id: ENST00000472429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2129,598,794 - 29,940,033 (-)Ensembl
RefSeq Acc Id: NM_000830   ⟹   NP_000821
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,550,947 - 29,939,996 (-)NCBI
GRCh372130,909,254 - 31,312,282 (-)ENTREZGENE
Build 362129,847,737 - 30,234,153 (-)NCBI Archive
HuRef2116,317,387 - 16,721,110 (-)ENTREZGENE
CHM1_12130,484,653 - 30,873,897 (-)NCBI
T2T-CHM13v2.02127,916,785 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320616   ⟹   NP_001307545
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
CHM1_12130,470,770 - 30,873,897 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320618   ⟹   NP_001307547
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
CHM1_12130,470,770 - 30,873,897 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320621   ⟹   NP_001307550
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
CHM1_12130,470,770 - 30,873,897 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320630   ⟹   NP_001307559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,598,794 - 29,939,996 (-)NCBI
CHM1_12130,532,597 - 30,873,897 (-)NCBI
T2T-CHM13v2.02127,964,653 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330993   ⟹   NP_001317922
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330994   ⟹   NP_001317923
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393424   ⟹   NP_001380353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,550,947 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,916,785 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393425   ⟹   NP_001380354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,550,947 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,916,785 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001393426   ⟹   NP_001380355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,550,947 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,916,785 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001410706   ⟹   NP_001397635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,550,947 - 29,939,996 (-)NCBI
T2T-CHM13v2.02127,916,785 - 28,305,893 (-)NCBI
RefSeq Acc Id: NM_175611   ⟹   NP_783300
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,536,933 - 29,939,996 (-)NCBI
GRCh372130,909,254 - 31,312,282 (-)ENTREZGENE
Build 362129,831,125 - 30,234,153 (-)NCBI Archive
HuRef2116,317,387 - 16,721,110 (-)ENTREZGENE
CHM1_12130,470,770 - 30,873,809 (-)NCBI
T2T-CHM13v2.02127,902,775 - 28,305,893 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440744   ⟹   XP_047296700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,576,898 - 29,939,996 (-)NCBI
RefSeq Acc Id: XM_054324437   ⟹   XP_054180412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02127,942,768 - 28,305,893 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000821 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307545 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307547 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001307559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317922 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317923 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380353 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380354 (Get FASTA)   NCBI Sequence Viewer  
  NP_001380355 (Get FASTA)   NCBI Sequence Viewer  
  NP_001397635 (Get FASTA)   NCBI Sequence Viewer  
  NP_783300 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296700 (Get FASTA)   NCBI Sequence Viewer  
  XP_054180412 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52568 (Get FASTA)   NCBI Sequence Viewer  
  AAA95961 (Get FASTA)   NCBI Sequence Viewer  
  AAD03059 (Get FASTA)   NCBI Sequence Viewer  
  AAD04931 (Get FASTA)   NCBI Sequence Viewer  
  BAA97452 (Get FASTA)   NCBI Sequence Viewer  
  BAH11742 (Get FASTA)   NCBI Sequence Viewer  
  BAH12343 (Get FASTA)   NCBI Sequence Viewer  
  CAC80546 (Get FASTA)   NCBI Sequence Viewer  
  DAJ12195 (Get FASTA)   NCBI Sequence Viewer  
  EAX09906 (Get FASTA)   NCBI Sequence Viewer  
  EAX09907 (Get FASTA)   NCBI Sequence Viewer  
  EAX09908 (Get FASTA)   NCBI Sequence Viewer  
  EAX09909 (Get FASTA)   NCBI Sequence Viewer  
  EAX09910 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000327687
  ENSP00000327687.4
  ENSP00000373776.2
  ENSP00000373777
  ENSP00000373777.3
  ENSP00000382791
  ENSP00000382791.1
  ENSP00000382793
  ENSP00000382793.1
  ENSP00000382797
  ENSP00000382797.1
  ENSP00000382798
  ENSP00000382798.1
GenBank Protein P39086 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_783300   ⟸   NM_175611
- Peptide Label: isoform 2 precursor
- UniProtKB: B7Z3V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000821   ⟸   NM_000830
- Peptide Label: isoform 1 precursor
- UniProtKB: Q13001 (UniProtKB/Swiss-Prot),   Q86SU9 (UniProtKB/Swiss-Prot),   P39086 (UniProtKB/Swiss-Prot),   H7BYG7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307550   ⟸   NM_001320621
- Peptide Label: isoform 5
- UniProtKB: B7Z3V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307547   ⟸   NM_001320618
- Peptide Label: isoform 4
- UniProtKB: B7Z256 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307545   ⟸   NM_001320616
- Peptide Label: isoform 3 precursor
- UniProtKB: B7Z3V7 (UniProtKB/TrEMBL),   E9PD61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307559   ⟸   NM_001320630
- Peptide Label: isoform 6 precursor
- Sequence:
RefSeq Acc Id: NP_001317922   ⟸   NM_001330993
- Peptide Label: isoform 7 precursor
- UniProtKB: E7EPY9 (UniProtKB/TrEMBL),   B7Z3V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317923   ⟸   NM_001330994
- Peptide Label: isoform 8 precursor
- UniProtKB: E7ENK3 (UniProtKB/TrEMBL),   B7Z3V7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000382791   ⟸   ENST00000399907
RefSeq Acc Id: ENSP00000382793   ⟸   ENST00000399909
RefSeq Acc Id: ENSP00000382797   ⟸   ENST00000399913
RefSeq Acc Id: ENSP00000382798   ⟸   ENST00000399914
RefSeq Acc Id: ENSP00000373777   ⟸   ENST00000389125
RefSeq Acc Id: ENSP00000373776   ⟸   ENST00000389124
RefSeq Acc Id: ENSP00000327687   ⟸   ENST00000327783
RefSeq Acc Id: NP_001380355   ⟸   NM_001393426
- Peptide Label: isoform 11
- UniProtKB: H7BYG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380353   ⟸   NM_001393424
- Peptide Label: isoform 9
- UniProtKB: H7BYG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001380354   ⟸   NM_001393425
- Peptide Label: isoform 10
- UniProtKB: H7BYG7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296700   ⟸   XM_047440744
- Peptide Label: isoform X1
RefSeq Acc Id: NP_001397635   ⟸   NM_001410706
- Peptide Label: isoform 12
- UniProtKB: E7EPZ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054180412   ⟸   XM_054324437
- Peptide Label: isoform X1
Protein Domains
Ionotropic glutamate receptor C-terminal   Ionotropic glutamate receptor L-glutamate and

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P39086-F1-model_v2 AlphaFold P39086 1-918 view protein structure

Promoters
RGD ID:13602604
Promoter ID:EPDNEW_H27486
Type:initiation region
Name:GRIK1_2
Description:glutamate ionotropic receptor kainate type subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27487  EPDNEW_H27488  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,939,671 - 29,939,731EPDNEW
RGD ID:13602606
Promoter ID:EPDNEW_H27487
Type:initiation region
Name:GRIK1_1
Description:glutamate ionotropic receptor kainate type subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27486  EPDNEW_H27488  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,939,996 - 29,940,056EPDNEW
RGD ID:13602608
Promoter ID:EPDNEW_H27488
Type:initiation region
Name:GRIK1_3
Description:glutamate ionotropic receptor kainate type subunit 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27486  EPDNEW_H27487  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382129,940,125 - 29,940,185EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4579 AgrOrtholog
COSMIC GRIK1 COSMIC
Ensembl Genes ENSG00000171189 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000327783 ENTREZGENE
  ENST00000327783.9 UniProtKB/TrEMBL
  ENST00000389124.6 UniProtKB/TrEMBL
  ENST00000389125 ENTREZGENE
  ENST00000389125.7 UniProtKB/Swiss-Prot
  ENST00000399907 ENTREZGENE
  ENST00000399907.6 UniProtKB/Swiss-Prot
  ENST00000399909 ENTREZGENE
  ENST00000399909.5 UniProtKB/TrEMBL
  ENST00000399913 ENTREZGENE
  ENST00000399913.5 UniProtKB/TrEMBL
  ENST00000399914 ENTREZGENE
  ENST00000399914.5 UniProtKB/TrEMBL
  ENST00000472429 ENTREZGENE
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171189 GTEx
HGNC ID HGNC:4579 ENTREZGENE
Human Proteome Map GRIK1 Human Proteome Map
InterPro ANF_lig-bd_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glu/Gly-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iono_rcpt_met UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ionotropic_Glu_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Iontro_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peripla_BP_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2897 UniProtKB/Swiss-Prot
NCBI Gene 2897 ENTREZGENE
OMIM 138245 OMIM
PANTHER GLUTAMATE RECEPTOR IONOTROPIC, KAINATE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IONOTROPIC GLUTAMATE RECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANF_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28973 PharmGKB
PRINTS NMDARECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Lig_chan-Glu_bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PBPe UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF53822 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8D9PH76_HUMAN UniProtKB/TrEMBL
  B7Z256 ENTREZGENE, UniProtKB/TrEMBL
  B7Z3V7 ENTREZGENE, UniProtKB/TrEMBL
  E7ENK3 ENTREZGENE, UniProtKB/TrEMBL
  E7EPY9 ENTREZGENE, UniProtKB/TrEMBL
  E7EPZ0 ENTREZGENE, UniProtKB/TrEMBL
  E9PD61 ENTREZGENE, UniProtKB/TrEMBL
  GRIK1_HUMAN UniProtKB/Swiss-Prot
  H7BYG7 ENTREZGENE, UniProtKB/TrEMBL
  P39086 ENTREZGENE
  Q13001 ENTREZGENE
  Q86SU9 ENTREZGENE
UniProt Secondary Q13001 UniProtKB/Swiss-Prot
  Q86SU9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 GRIK1  glutamate ionotropic receptor kainate type subunit 1  GRIK1  glutamate receptor, ionotropic, kainate 1  Symbol and/or name change 5135510 APPROVED