KCNJ6 (potassium inwardly rectifying channel subfamily J member 6) - Rat Genome Database

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Gene: KCNJ6 (potassium inwardly rectifying channel subfamily J member 6) Homo sapiens
Analyze
Symbol: KCNJ6
Name: potassium inwardly rectifying channel subfamily J member 6
RGD ID: 1313992
HGNC Page HGNC:6267
Description: Predicted to enable inward rectifier potassium channel activity and voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential. Predicted to be involved in potassium ion import across plasma membrane and regulation of monoatomic ion transmembrane transport. Predicted to act upstream of or within monoatomic ion transmembrane transport; regulation of presynaptic membrane potential; and thyroid hormone metabolic process. Located in Golgi apparatus and plasma membrane. Implicated in alcohol use disorder and heroin dependence.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BIR1; G protein-activated inward rectifier potassium channel 2; GIRK-2; GIRK2; hiGIRK2; inward rectifier K(+) channel Kir3.2; inward rectifier potassium channel KIR3.2; KATP-2; KATP2; KCNJ7; KIR3.2; KPLBS; MGC126596; potassium channel, inwardly rectifying subfamily J member 6; potassium channel, inwardly rectifying subfamily J, member 6; potassium inwardly-rectifying channel, subfamily J, member 6; potassium voltage-gated channel subfamily J member 6
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
GRCh382137,607,373 - 37,916,457 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2137,607,373 - 38,121,345 (-)EnsemblGRCh38hg38GRCh38
GRCh372138,979,675 - 39,288,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362137,918,655 - 38,210,566 (-)NCBINCBI36Build 36hg18NCBI36
Build 342137,918,656 - 38,210,566NCBI
Celera2124,194,896 - 24,487,265 (-)NCBICelera
Cytogenetic Map21q22.13NCBI
HuRef2124,470,127 - 24,761,921 (-)NCBIHuRef
CHM1_12138,557,922 - 38,850,112 (-)NCBICHM1_1
T2T-CHM13v2.02135,989,771 - 36,299,971 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of eye movement  (IAGP)
Abnormality of the forehead  (IAGP)
Abnormally large globe  (IAGP)
Absence of subcutaneous fat  (IAGP)
Autosomal dominant inheritance  (IAGP)
Congenital generalized lipodystrophy  (IAGP)
Congenital onset  (IAGP)
Decreased serum leptin  (IAGP)
Decreased testicular size  (IAGP)
Dimple chin  (IAGP)
Dyspnea  (IAGP)
Failure to thrive  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Flexion contracture  (IAGP)
Generalized lipodystrophy  (IAGP)
Gingival overgrowth  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hyperreflexia  (IAGP)
Hypertonia  (IAGP)
Increased susceptibility to fractures  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Lack of facial subcutaneous fat  (IAGP)
Lateral ventricle dilatation  (IAGP)
Lipodystrophy  (IAGP)
Loss of facial adipose tissue  (IAGP)
Mask-like facies  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Narrow naris  (IAGP)
Narrow nasal bridge  (IAGP)
Open mouth  (IAGP)
Opisthotonus  (IAGP)
Polyhydramnios  (IAGP)
Postnatal growth retardation  (IAGP)
Premature skin wrinkling  (IAGP)
Progeroid facial appearance  (IAGP)
Prominent nasal tip  (IAGP)
Proptosis  (IAGP)
Recurrent pneumonia  (IAGP)
Respiratory insufficiency  (IAGP)
Schizophrenia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Shallow orbits  (IAGP)
Short philtrum  (IAGP)
Spastic tetraparesis  (IAGP)
Tented upper lip vermilion  (IAGP)
Underdeveloped nasal alae  (IAGP)
Upper airway obstruction  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Dysfunctional hippocampal inhibition in the Ts65Dn mouse model of Down syndrome. Best TK, etal., Exp Neurol. 2012 Feb;233(2):749-57. Epub 2011 Dec 8.
2. KCNJ6 is associated with adult alcohol dependence and involved in gene x early life stress interactions in adolescent alcohol drinking. Clarke TK, etal., Neuropsychopharmacology. 2011 May;36(6):1142-8. Epub 2011 Feb 9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. A KCNJ6 (Kir3.2, GIRK2) gene polymorphism modulates opioid effects on analgesia and addiction but not on pupil size. Lotsch J, etal., Pharmacogenet Genomics. 2010 May;20(5):291-7.
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7550338   PMID:7592809   PMID:7729621   PMID:7796919   PMID:7926018   PMID:8929423   PMID:9023358   PMID:9037601   PMID:9108307   PMID:9503011   PMID:10562331   PMID:10619846  
PMID:10659995   PMID:10830953   PMID:10956667   PMID:12034888   PMID:12297500   PMID:12458027   PMID:12477932   PMID:12743112   PMID:14724209   PMID:15068243   PMID:15142872   PMID:15218035  
PMID:15489334   PMID:15772902   PMID:16109170   PMID:16382105   PMID:16780588   PMID:17135278   PMID:17185339   PMID:18303085   PMID:18391953   PMID:19135528   PMID:19567891   PMID:19756153  
PMID:20379614   PMID:20424473   PMID:20494980   PMID:20655490   PMID:20943350   PMID:21637918   PMID:21873635   PMID:22252428   PMID:22554406   PMID:23175530   PMID:23739333   PMID:23994450  
PMID:24145411   PMID:24392765   PMID:25346042   PMID:25599232   PMID:25620207   PMID:26032891   PMID:27027462   PMID:27847216   PMID:27993610   PMID:28298427   PMID:28514442   PMID:30240440  
PMID:30323262   PMID:31011505   PMID:31099984   PMID:32296183   PMID:33961781   PMID:35914814   PMID:36207584   PMID:36261449   PMID:37168492  


Genomics

Comparative Map Data
KCNJ6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382137,607,373 - 37,916,457 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2137,607,373 - 38,121,345 (-)EnsemblGRCh38hg38GRCh38
GRCh372138,979,675 - 39,288,760 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362137,918,655 - 38,210,566 (-)NCBINCBI36Build 36hg18NCBI36
Build 342137,918,656 - 38,210,566NCBI
Celera2124,194,896 - 24,487,265 (-)NCBICelera
Cytogenetic Map21q22.13NCBI
HuRef2124,470,127 - 24,761,921 (-)NCBIHuRef
CHM1_12138,557,922 - 38,850,112 (-)NCBICHM1_1
T2T-CHM13v2.02135,989,771 - 36,299,971 (-)NCBIT2T-CHM13v2.0
Kcnj6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391694,545,839 - 94,798,719 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1694,549,495 - 94,798,560 (-)EnsemblGRCm39 Ensembl
GRCm381694,744,980 - 94,997,696 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1694,748,636 - 94,997,701 (-)EnsemblGRCm38mm10GRCm38
MGSCv371694,970,290 - 95,219,303 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361694,857,497 - 95,106,494 (-)NCBIMGSCv36mm8
Celera1695,836,339 - 96,085,607 (-)NCBICelera
Cytogenetic Map16C4NCBI
cM Map1655.44NCBI
Kcnj6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81147,531,312 - 47,778,348 (-)NCBIGRCr8
mRatBN7.21134,061,702 - 34,308,758 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1134,061,708 - 34,308,758 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1142,718,859 - 42,966,801 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01135,390,234 - 35,638,172 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01134,536,231 - 34,783,241 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01135,011,007 - 35,262,362 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1135,024,196 - 35,099,383 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01138,602,645 - 38,692,971 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41135,025,118 - 35,116,500 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11135,096,649 - 35,172,743NCBI
Celera1134,144,832 - 34,389,786 (+)NCBICelera
Cytogenetic Map11q11NCBI
Kcnj6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540736,659,627 - 36,924,024 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540736,670,824 - 36,923,960 (-)NCBIChiLan1.0ChiLan1.0
KCNJ6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22233,721,642 - 34,033,922 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12128,581,161 - 28,895,193 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02123,983,485 - 24,284,759 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12137,339,201 - 37,634,876 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2137,340,738 - 37,558,688 (-)Ensemblpanpan1.1panPan2
KCNJ6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13132,752,585 - 33,010,999 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3132,755,899 - 32,934,478 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3131,821,629 - 32,081,491 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03132,062,846 - 32,322,567 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3132,066,922 - 32,322,588 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13131,937,274 - 32,196,786 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03131,945,083 - 32,204,244 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03132,428,866 - 32,689,562 (-)NCBIUU_Cfam_GSD_1.0
Kcnj6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497132,225,573 - 32,465,141 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365005,065,107 - 5,239,854 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365005,002,668 - 5,164,511 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNJ6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13201,243,609 - 201,525,820 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113201,231,803 - 201,525,943 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213211,406,250 - 211,613,586 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNJ6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1281,569,659 - 81,878,047 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660549,424,667 - 9,732,757 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnj6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474525,947,561 - 26,127,171 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474525,879,671 - 26,130,998 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNJ6
100 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 21q22.13-22.3(chr21:37135738-42434515)x1 copy number loss See cases [RCV000051047] Chr21:37135738..42434515 [GRCh38]
Chr21:38508038..43854625 [GRCh37]
Chr21:37429908..42727694 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] Chr21:35027972..46670405 [GRCh38]
Chr21:36400269..48090317 [GRCh37]
Chr21:35322139..46914745 [NCBI36]
Chr21:21q22.12-22.3		 pathogenic
GRCh38/hg38 21q22.13-22.2(chr21:37408770-38645794)x1 copy number loss See cases [RCV000052837] Chr21:37408770..38645794 [GRCh38]
Chr21:38781072..40017718 [GRCh37]
Chr21:37702942..38939588 [NCBI36]
Chr21:21q22.13-22.2		 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(chr21:7749532-46670405)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 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 21q22.12-22.2(chr21:36396699-38951223)x3 copy number gain See cases [RCV000053071] Chr21:36396699..38951223 [GRCh38]
Chr21:37768997..40323148 [GRCh37]
Chr21:36690867..39245018 [NCBI36]
Chr21:21q22.12-22.2		 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_002240.3(KCNJ6):c.235G>A (p.Asp79Asn) single nucleotide variant Malignant melanoma [RCV000063828] Chr21:37714922 [GRCh38]
Chr21:39087225 [GRCh37]
Chr21:38009095 [NCBI36]
Chr21:21q22.13		 not provided
GRCh37/hg19 21q22.13-22.2(chr21:38741104..40274106) copy number loss DYRK1A-related intellectual disability syndrome [RCV000190475] Chr21:38741104..40274106 [GRCh37]
Chr21:21q22.13-22.2		 pathogenic
GRCh37/hg19 21q22.13-22.2(chr21:37839410..41427526) copy number loss DYRK1A-related intellectual disability syndrome [RCV000190476] Chr21:37839410..41427526 [GRCh37]
Chr21:21q22.13-22.2		 pathogenic
GRCh38/hg38 21q22.12-22.2(chr21:35772177-38558509)x1 copy number loss See cases [RCV000133619] Chr21:35772177..38558509 [GRCh38]
Chr21:37144475..39930433 [GRCh37]
Chr21:36066345..38852303 [NCBI36]
Chr21:21q22.12-22.2		 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 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 21q22.12-22.3(chr21:36206067-46670405)x3 copy number gain See cases [RCV000134972] Chr21:36206067..46670405 [GRCh38]
Chr21:37578365..48090317 [GRCh37]
Chr21:36500235..46914745 [NCBI36]
Chr21:21q22.12-22.3		 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 21q22.12-22.2(chr21:35543872-39993338)x1 copy number loss See cases [RCV000135412] Chr21:35543872..39993338 [GRCh38]
Chr21:36916169..41365265 [GRCh37]
Chr21:35838039..40287135 [NCBI36]
Chr21:21q22.12-22.2		 pathogenic
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 copy number gain See cases [RCV000136142] Chr21:36519173..46670405 [GRCh38]
Chr21:37891471..48090317 [GRCh37]
Chr21:36813341..46914745 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 copy number loss See cases [RCV000136828] Chr21:34789953..46636538 [GRCh38]
Chr21:36162250..48056450 [GRCh37]
Chr21:35084120..46880878 [NCBI36]
Chr21:21q22.12-22.3		 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 21q22.13-22.3(chr21:37669628-46671060)x1 copy number loss See cases [RCV000138096] Chr21:37669628..46671060 [GRCh38]
Chr21:39041930..48090972 [GRCh37]
Chr21:37963800..46915400 [NCBI36]
Chr21:21q22.13-22.3		 pathogenic
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 copy number gain See cases [RCV000138164] Chr21:36066991..46671060 [GRCh38]
Chr21:37439289..48090972 [GRCh37]
Chr21:36361159..46915400 [NCBI36]
Chr21:21q22.12-22.3		 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
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 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
NC_000021.8:g.(?_38007970)_(39747620_?)del deletion Seizure [RCV000149563] Chr21:38007970..39747620 [GRCh37]
Chr21:21q22.13-22.2		 pathogenic
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
NM_002240.5(KCNJ6):c.460G>A (p.Gly154Ser) single nucleotide variant Keppen-Lubinsky syndrome [RCV000169689]|See cases [RCV003156079] Chr21:37714697 [GRCh38]
Chr21:39087000 [GRCh37]
Chr21:21q22.13		 pathogenic|likely pathogenic|not provided
NM_002240.5(KCNJ6):c.452CCA[1] (p.Thr152del) microsatellite Keppen-Lubinsky syndrome [RCV000169688] Chr21:37714700..37714702 [GRCh38]
Chr21:39087003..39087005 [GRCh37]
Chr21:21q22.13		 pathogenic|not provided
NM_002240.5(KCNJ6):c.355G>T (p.Gly119Ter) single nucleotide variant not provided [RCV000578606] Chr21:37714802 [GRCh38]
Chr21:39087105 [GRCh37]
Chr21:21q22.13		 uncertain significance
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 21q22.13-22.2(chr21:38176362-41901945)x1 copy number loss See cases [RCV000449183] Chr21:38176362..41901945 [GRCh37]
Chr21:21q22.13-22.2		 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 21q22.13-22.3(chr21:38790552-43619940)x1 copy number loss See cases [RCV000446516] Chr21:38790552..43619940 [GRCh37]
Chr21:21q22.13-22.3		 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
NM_002240.5(KCNJ6):c.76G>T (p.Ala26Ser) single nucleotide variant not provided [RCV000482261] Chr21:37715081 [GRCh38]
Chr21:39087384 [GRCh37]
Chr21:21q22.13		 uncertain significance
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 copy number loss See cases [RCV000510684] Chr21:38699545..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
GRCh37/hg19 21q22.13(chr21:38990885-39697938)x3 copy number gain See cases [RCV000510146] Chr21:38990885..39697938 [GRCh37]
Chr21:21q22.13		 likely benign
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
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 copy number loss See cases [RCV000510798] Chr21:37914123..48097372 [GRCh37]
Chr21:21q22.13-22.3		 pathogenic
NM_002240.5(KCNJ6):c.512T>G (p.Leu171Arg) single nucleotide variant Keppen-Lubinsky syndrome [RCV000655946] Chr21:37714645 [GRCh38]
Chr21:39086948 [GRCh37]
Chr21:21q22.13		 likely pathogenic
GRCh37/hg19 21q22.12-22.2(chr21:36183329-42311538)x3 copy number gain See cases [RCV000512585] Chr21:36183329..42311538 [GRCh37]
Chr21:21q22.12-22.2		 likely pathogenic
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2		 pathogenic
NM_002240.5(KCNJ6):c.8A>T (p.Lys3Met) single nucleotide variant Keppen-Lubinsky syndrome [RCV000709805] Chr21:37840675 [GRCh38]
Chr21:39212977 [GRCh37]
Chr21:21q22.13		 not provided
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 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_002240.5(KCNJ6):c.*34C>G single nucleotide variant not provided [RCV001648599] Chr21:37625125 [GRCh38]
Chr21:38997427 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.180C>T (p.Asp60=) single nucleotide variant not provided [RCV000921588] Chr21:37714977 [GRCh38]
Chr21:39087280 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.90A>C (p.Pro30=) single nucleotide variant not provided [RCV000924894] Chr21:37715067 [GRCh38]
Chr21:39087370 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.25+7A>G single nucleotide variant not provided [RCV000922181] Chr21:37840651 [GRCh38]
Chr21:39212953 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.136C>A (p.Arg46=) single nucleotide variant not provided [RCV000924077] Chr21:37715021 [GRCh38]
Chr21:39087324 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.750G>A (p.Gly250=) single nucleotide variant not provided [RCV000924606] Chr21:37714407 [GRCh38]
Chr21:39086710 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.63C>T (p.Val21=) single nucleotide variant not provided [RCV000917379] Chr21:37715094 [GRCh38]
Chr21:39087397 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.243C>T (p.Phe81=) single nucleotide variant not provided [RCV000976690] Chr21:37714914 [GRCh38]
Chr21:39087217 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.825A>G (p.Ser275=) single nucleotide variant not provided [RCV000940540] Chr21:37714332 [GRCh38]
Chr21:39086635 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.402C>T (p.Thr134=) single nucleotide variant not provided [RCV000916167] Chr21:37714755 [GRCh38]
Chr21:39087058 [GRCh37]
Chr21:21q22.13		 likely benign
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
NM_002240.5(KCNJ6):c.1243G>A (p.Ala415Thr) single nucleotide variant Inborn genetic diseases [RCV003249934] Chr21:37625188 [GRCh38]
Chr21:38997490 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.191A>G (p.Asn64Ser) single nucleotide variant Keppen-Lubinsky syndrome [RCV001615033] Chr21:37714966 [GRCh38]
Chr21:39087269 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.207C>T (p.Asn69=) single nucleotide variant not provided [RCV000910926] Chr21:37714950 [GRCh38]
Chr21:39087253 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.25+103T>C single nucleotide variant not provided [RCV001660752] Chr21:37840555 [GRCh38]
Chr21:39212857 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.947-79C>T single nucleotide variant not provided [RCV001696686] Chr21:37625563 [GRCh38]
Chr21:38997865 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.26-41C>G single nucleotide variant not provided [RCV001672165] Chr21:37715172 [GRCh38]
Chr21:39087475 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.25+275T>C single nucleotide variant not provided [RCV001649368] Chr21:37840383 [GRCh38]
Chr21:39212685 [GRCh37]
Chr21:21q22.13		 benign
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 21q22.13-22.2(chr21:39270345-41091831)x1 copy number loss not provided [RCV001259411] Chr21:39270345..41091831 [GRCh37]
Chr21:21q22.13-22.2		 uncertain significance
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
NC_000021.8:g.(?_37833274)_(39212984_?)dup duplication DYRK1A-related intellectual disability syndrome [RCV001370514] Chr21:37833274..39212984 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.157A>G (p.Ile53Val) single nucleotide variant Inborn genetic diseases [RCV002552674]|not provided [RCV001395768] Chr21:37715000 [GRCh38]
Chr21:39087303 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.84C>T (p.His28=) single nucleotide variant not provided [RCV001493349] Chr21:37715073 [GRCh38]
Chr21:39087376 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.-27-9C>T single nucleotide variant not provided [RCV001613723] Chr21:37840718 [GRCh38]
Chr21:39213020 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.495A>G (p.Pro165=) single nucleotide variant Keppen-Lubinsky syndrome [RCV001730764]|not provided [RCV001512955] Chr21:37714662 [GRCh38]
Chr21:39086965 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.1032C>T (p.Asp344=) single nucleotide variant Keppen-Lubinsky syndrome [RCV001730822]|not provided [RCV001523500] Chr21:37625399 [GRCh38]
Chr21:38997701 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.964C>T (p.Arg322Ter) single nucleotide variant not provided [RCV003238524] Chr21:37625467 [GRCh38]
Chr21:38997769 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.701del (p.Glu234fs) deletion not provided [RCV001799977] Chr21:37714456 [GRCh38]
Chr21:39086759 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.26-65G>A single nucleotide variant not provided [RCV001779760] Chr21:37715196 [GRCh38]
Chr21:39087499 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.139G>A (p.Asp47Asn) single nucleotide variant not provided [RCV001773995] Chr21:37715018 [GRCh38]
Chr21:39087321 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.974dup (p.Tyr325Ter) duplication not provided [RCV001763548] Chr21:37625456..37625457 [GRCh38]
Chr21:38997758..38997759 [GRCh37]
Chr21:21q22.13		 uncertain significance
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 21q21.3-22.13(chr21:29812033-39282854) copy number gain not specified [RCV002052729] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13		 pathogenic
NM_002240.5(KCNJ6):c.25+11980A>G single nucleotide variant Keppen-Lubinsky syndrome [RCV001839301] Chr21:37828678 [GRCh38]
Chr21:39200980 [GRCh37]
Chr21:21q22.13		 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
NM_002240.5(KCNJ6):c.1213G>A (p.Glu405Lys) single nucleotide variant not provided [RCV001929865] Chr21:37625218 [GRCh38]
Chr21:38997520 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1128G>T (p.Arg376Ser) single nucleotide variant not provided [RCV001870737] Chr21:37625303 [GRCh38]
Chr21:38997605 [GRCh37]
Chr21:21q22.13		 uncertain significance
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 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 21q11.2-22.3(chr21:15285841-48097372) copy number gain not specified [RCV002052725] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_002240.5(KCNJ6):c.353G>A (p.Arg118Gln) single nucleotide variant not provided [RCV001969351] Chr21:37714804 [GRCh38]
Chr21:39087107 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1174C>T (p.His392Tyr) single nucleotide variant not provided [RCV001956607] Chr21:37625257 [GRCh38]
Chr21:38997559 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.773C>T (p.Thr258Met) single nucleotide variant not provided [RCV001960371] Chr21:37714384 [GRCh38]
Chr21:39086687 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1142T>C (p.Leu381Pro) single nucleotide variant not provided [RCV002018254] Chr21:37625289 [GRCh38]
Chr21:38997591 [GRCh37]
Chr21:21q22.13		 uncertain significance
NC_000021.8:g.(?_37507491)_(39212984_?)dup duplication not provided [RCV001925516] Chr21:37507491..39212984 [GRCh37]
Chr21:21q22.12-22.13		 uncertain significance
NM_002240.5(KCNJ6):c.127C>G (p.His43Asp) single nucleotide variant not provided [RCV002036175] Chr21:37715030 [GRCh38]
Chr21:39087333 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.72_74dup (p.Val25dup) duplication not provided [RCV002035181] Chr21:37715082..37715083 [GRCh38]
Chr21:39087385..39087386 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.797C>T (p.Thr266Met) single nucleotide variant not provided [RCV001921522] Chr21:37714360 [GRCh38]
Chr21:39086663 [GRCh37]
Chr21:21q22.13		 uncertain significance
NC_000021.8:g.(?_32439271)_(39212984_?)dup duplication Amyotrophic lateral sclerosis type 1 [RCV001939883]|DYRK1A-related intellectual disability syndrome [RCV003107882] Chr21:32439271..39212984 [GRCh37]
Chr21:21q22.11-22.13		 uncertain significance
NM_002240.5(KCNJ6):c.744G>A (p.Ser248=) single nucleotide variant not provided [RCV002168981] Chr21:37714413 [GRCh38]
Chr21:39086716 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.947-16A>T single nucleotide variant not provided [RCV002216353] Chr21:37625500 [GRCh38]
Chr21:38997802 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.26-19_26-17del deletion not provided [RCV002134208] Chr21:37715148..37715150 [GRCh38]
Chr21:39087451..39087453 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.414G>T (p.Gly138=) single nucleotide variant not provided [RCV002213543] Chr21:37714743 [GRCh38]
Chr21:39087046 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.42C>A (p.Gly14=) single nucleotide variant not provided [RCV002182867] Chr21:37715115 [GRCh38]
Chr21:39087418 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.472C>T (p.Arg158Trp) single nucleotide variant not provided [RCV002221847]   uncertain significance
NM_002240.5(KCNJ6):c.946+17C>T single nucleotide variant not provided [RCV002183455] Chr21:37714194 [GRCh38]
Chr21:39086497 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.168C>T (p.Tyr56=) single nucleotide variant not provided [RCV002082847] Chr21:37714989 [GRCh38]
Chr21:39087292 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.947-6762_947-6761insGTTTGTTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGCCGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCGGGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTACAGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCACCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCTAACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC insertion Schizophrenia [RCV002463558] Chr21:37632245..37632246 [GRCh38]
Chr21:39004547..39004548 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.946+8G>A single nucleotide variant not provided [RCV002858462] Chr21:37714203 [GRCh38]
Chr21:39086506 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.353G>T (p.Arg118Leu) single nucleotide variant See cases [RCV003232948] Chr21:37714804 [GRCh38]
Chr21:39087107 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.25+8G>A single nucleotide variant not provided [RCV002995219] Chr21:37840650 [GRCh38]
Chr21:39212952 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.42C>T (p.Gly14=) single nucleotide variant not provided [RCV002681566] Chr21:37715115 [GRCh38]
Chr21:39087418 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.30C>T (p.Asn10=) single nucleotide variant not provided [RCV002617898] Chr21:37715127 [GRCh38]
Chr21:39087430 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.522A>G (p.Gln174=) single nucleotide variant not provided [RCV002659371] Chr21:37714635 [GRCh38]
Chr21:39086938 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.1132G>A (p.Glu378Lys) single nucleotide variant Inborn genetic diseases [RCV002692507] Chr21:37625299 [GRCh38]
Chr21:38997601 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1011A>C (p.Thr337=) single nucleotide variant not provided [RCV002894544] Chr21:37625420 [GRCh38]
Chr21:38997722 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.372A>G (p.Ile124Met) single nucleotide variant not provided [RCV002595149] Chr21:37714785 [GRCh38]
Chr21:39087088 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.43G>A (p.Asp15Asn) single nucleotide variant KCNJ6-related condition [RCV003427565]|not provided [RCV003091380] Chr21:37715114 [GRCh38]
Chr21:39087417 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1177G>T (p.Ala393Ser) single nucleotide variant Inborn genetic diseases [RCV002670129] Chr21:37625254 [GRCh38]
Chr21:38997556 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.738G>C (p.Gln246His) single nucleotide variant Inborn genetic diseases [RCV002807743] Chr21:37714419 [GRCh38]
Chr21:39086722 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.61G>A (p.Val21Ile) single nucleotide variant not provided [RCV002937920] Chr21:37715096 [GRCh38]
Chr21:39087399 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.356G>T (p.Gly119Val) single nucleotide variant Inborn genetic diseases [RCV002807751]|not provided [RCV003319544] Chr21:37714801 [GRCh38]
Chr21:39087104 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.936G>C (p.Val312=) single nucleotide variant not provided [RCV002856514] Chr21:37714221 [GRCh38]
Chr21:39086524 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.73G>T (p.Val25Leu) single nucleotide variant not provided [RCV003092912] Chr21:37715084 [GRCh38]
Chr21:39087387 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1041C>T (p.Tyr347=) single nucleotide variant not provided [RCV002586612] Chr21:37625390 [GRCh38]
Chr21:38997692 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.561A>T (p.Gly187=) single nucleotide variant not provided [RCV002608297] Chr21:37714596 [GRCh38]
Chr21:39086899 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.798G>A (p.Thr266=) single nucleotide variant not provided [RCV003072297] Chr21:37714359 [GRCh38]
Chr21:39086662 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.52G>A (p.Asp18Asn) single nucleotide variant Inborn genetic diseases [RCV003209220] Chr21:37715105 [GRCh38]
Chr21:39087408 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.22A>G (p.Met8Val) single nucleotide variant Keppen-Lubinsky syndrome [RCV003142457] Chr21:37840661 [GRCh38]
Chr21:39212963 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.491G>T (p.Cys164Phe) single nucleotide variant not provided [RCV003329621] Chr21:37714666 [GRCh38]
Chr21:39086969 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1153G>T (p.Val385Leu) single nucleotide variant Inborn genetic diseases [RCV003366609] Chr21:37625278 [GRCh38]
Chr21:38997580 [GRCh37]
Chr21:21q22.13		 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 21q22.11-22.3(chr21:33015681-48097372)x3 copy number gain not provided [RCV003485222] Chr21:33015681..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_002240.5(KCNJ6):c.347A>G (p.Tyr116Cys) single nucleotide variant not provided [RCV003441685] Chr21:37714810 [GRCh38]
Chr21:39087113 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.584A>C (p.Gln195Pro) single nucleotide variant not provided [RCV003443548] Chr21:37714573 [GRCh38]
Chr21:39086876 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.398T>A (p.Val133Asp) single nucleotide variant not provided [RCV003431497] Chr21:37714759 [GRCh38]
Chr21:39087062 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.128A>G (p.His43Arg) single nucleotide variant not provided [RCV003431498] Chr21:37715029 [GRCh38]
Chr21:39087332 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV003442728] Chr21:37840681 [GRCh38]
Chr21:39212983 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1125C>G (p.Ser375Arg) single nucleotide variant not provided [RCV003687820] Chr21:37625306 [GRCh38]
Chr21:38997608 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.411C>T (p.Asn137=) single nucleotide variant not provided [RCV003878607] Chr21:37714746 [GRCh38]
Chr21:39087049 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.151A>C (p.Arg51=) single nucleotide variant not provided [RCV003828246] Chr21:37715006 [GRCh38]
Chr21:39087309 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.809G>A (p.Arg270His) single nucleotide variant not provided [RCV003817436] Chr21:37714348 [GRCh38]
Chr21:39086651 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1173A>G (p.Gln391=) single nucleotide variant not provided [RCV003548351] Chr21:37625258 [GRCh38]
Chr21:38997560 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.947-7T>C single nucleotide variant not provided [RCV003836371] Chr21:37625491 [GRCh38]
Chr21:38997793 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.1021A>T (p.Thr341Ser) single nucleotide variant not provided [RCV003559755] Chr21:37625410 [GRCh38]
Chr21:38997712 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.970T>C (p.Ser324Pro) single nucleotide variant not provided [RCV003560714] Chr21:37625461 [GRCh38]
Chr21:38997763 [GRCh37]
Chr21:21q22.13		 uncertain significance
NM_002240.5(KCNJ6):c.1113C>T (p.Ala371=) single nucleotide variant not provided [RCV003820845] Chr21:37625318 [GRCh38]
Chr21:38997620 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.828G>A (p.Pro276=) single nucleotide variant not provided [RCV003823289] Chr21:37714329 [GRCh38]
Chr21:39086632 [GRCh37]
Chr21:21q22.13		 likely benign
GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3 copy number gain not specified [RCV003986158] Chr21:34092685..48097372 [GRCh37]
Chr21:21q22.11-22.3		 pathogenic
NM_002240.5(KCNJ6):c.280T>C (p.Leu94=) single nucleotide variant not provided [RCV003722360] Chr21:37714877 [GRCh38]
Chr21:39087180 [GRCh37]
Chr21:21q22.13		 likely benign
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 21q22.12-22.3(chr21:35872675-48097372)x1 copy number loss not specified [RCV003986157] Chr21:35872675..48097372 [GRCh37]
Chr21:21q22.12-22.3		 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 21q11.2-22.3(chr21:15023401-48097372)x3 copy number gain not specified [RCV003986160] Chr21:15023401..48097372 [GRCh37]
Chr21:21q11.2-22.3		 pathogenic
NM_002240.5(KCNJ6):c.342C>T (p.Ile114=) single nucleotide variant not provided [RCV003555843] Chr21:37714815 [GRCh38]
Chr21:39087118 [GRCh37]
Chr21:21q22.13		 benign
NM_002240.5(KCNJ6):c.669G>T (p.Arg223=) single nucleotide variant not provided [RCV003563132] Chr21:37714488 [GRCh38]
Chr21:39086791 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.690C>T (p.Ser230=) single nucleotide variant KCNJ6-related condition [RCV003924675] Chr21:37714467 [GRCh38]
Chr21:39086770 [GRCh37]
Chr21:21q22.13		 likely benign
NM_002240.5(KCNJ6):c.327G>A (p.Met109Ile) single nucleotide variant KCNJ6-related condition [RCV003902280] Chr21:37714830 [GRCh38]
Chr21:39087133 [GRCh37]
Chr21:21q22.13		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6635
Count of miRNA genes:1414
Interacting mature miRNAs:1905
Transcripts:ENST00000288309, ENST00000609713
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D21S1440  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,141,627 - 39,141,788UniSTSGRCh37
Build 362138,063,497 - 38,063,658RGDNCBI36
Celera2124,340,194 - 24,340,355RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,614,688 - 24,614,852UniSTS
Marshfield Genetic Map2136.77RGD
Marshfield Genetic Map2136.77UniSTS
TNG Radiation Hybrid Map2114196.0UniSTS
deCODE Assembly Map2145.39UniSTS
Stanford-G3 RH Map211156.0UniSTS
Whitehead-RH Map21187.8UniSTS
Whitehead-YAC Contig Map21 UniSTS
D21S1238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,263,491 - 39,263,697UniSTSGRCh37
Build 362138,185,361 - 38,185,567RGDNCBI36
Celera2124,462,058 - 24,462,264RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,736,659 - 24,736,865UniSTS
Marshfield Genetic Map2138.65UniSTS
Marshfield Genetic Map2138.65RGD
deCODE Assembly Map2146.38UniSTS
Stanford-G3 RH Map211159.0UniSTS
NCBI RH Map21290.4UniSTS
SHGC-8849  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,266,992 - 39,267,100UniSTSGRCh37
Build 362138,188,862 - 38,188,970RGDNCBI36
Celera2124,465,560 - 24,465,668RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,740,172 - 24,740,280UniSTS
RH92677  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,105,383 - 39,105,483UniSTSGRCh37
Build 362138,027,253 - 38,027,353RGDNCBI36
Celera2124,303,975 - 24,304,075RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,579,262 - 24,579,362UniSTS
GeneMap99-GB4 RH Map21185.92UniSTS
RH119817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,171,771 - 39,172,068UniSTSGRCh37
Build 362138,093,641 - 38,093,938RGDNCBI36
Celera2124,370,338 - 24,370,635RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,644,848 - 24,645,145UniSTS
TNG Radiation Hybrid Map2114196.0UniSTS
UniSTS:143667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,086,834 - 39,087,097UniSTSGRCh37
Build 362138,008,704 - 38,008,967RGDNCBI36
Celera2124,285,424 - 24,285,687RGD
HuRef2124,560,706 - 24,560,969UniSTS
D21S233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,223,197 - 39,223,309UniSTSGRCh37
Build 362138,145,067 - 38,145,179RGDNCBI36
Celera2124,421,762 - 24,421,874RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,696,334 - 24,696,446UniSTS
D21S337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,031,169 - 39,031,432UniSTSGRCh37
Build 362137,953,039 - 37,953,302RGDNCBI36
Celera2124,229,295 - 24,229,558RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,504,465 - 24,504,728UniSTS
SHGC-170067  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,289,461 - 39,289,800UniSTSGRCh37
Build 362138,211,331 - 38,211,670RGDNCBI36
Celera2124,488,030 - 24,488,369RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,762,641 - 24,762,980UniSTS
TNG Radiation Hybrid Map2114225.0UniSTS
SHGC-51806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,263,354 - 39,263,510UniSTSGRCh37
Build 362138,185,224 - 38,185,380RGDNCBI36
Celera2124,461,921 - 24,462,077RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,736,522 - 24,736,678UniSTS
TNG Radiation Hybrid Map2114222.0UniSTS
STS_CEB268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,084,703 - 39,085,200UniSTSGRCh37
Build 362138,006,573 - 38,007,070RGDNCBI36
Celera2124,283,293 - 24,283,790RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,558,716 - 24,559,072UniSTS
KCNJ6_880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,996,851 - 38,997,696UniSTSGRCh37
Build 362137,918,721 - 37,919,566RGDNCBI36
Celera2124,194,962 - 24,195,807RGD
HuRef2124,470,200 - 24,471,045UniSTS
SHGC-10462  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,101,505 - 39,101,614UniSTSGRCh37
Build 362138,023,375 - 38,023,484RGDNCBI36
Celera2124,300,097 - 24,300,206RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,575,381 - 24,575,490UniSTS
TNG Radiation Hybrid Map2114203.0UniSTS
Stanford-G3 RH Map211143.0UniSTS
NCBI RH Map21288.4UniSTS
SHGC-10469  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,997,859 - 38,997,978UniSTSGRCh37
Build 362137,919,729 - 37,919,848RGDNCBI36
Celera2124,195,970 - 24,196,089RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,471,208 - 24,471,327UniSTS
TNG Radiation Hybrid Map2114141.0UniSTS
Stanford-G3 RH Map211147.0UniSTS
NCBI RH Map21289.1UniSTS
G34635  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,997,859 - 38,998,054UniSTSGRCh37
Build 362137,919,729 - 37,919,924RGDNCBI36
Celera2124,195,970 - 24,196,165RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,471,208 - 24,471,403UniSTS
SHGC-35670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,997,222 - 38,997,431UniSTSGRCh37
Build 362137,919,092 - 37,919,301RGDNCBI36
Celera2124,195,333 - 24,195,542RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,470,571 - 24,470,780UniSTS
TNG Radiation Hybrid Map2114141.0UniSTS
Stanford-G3 RH Map211153.0UniSTS
GeneMap99-GB4 RH Map21187.33UniSTS
Whitehead-RH Map21180.0UniSTS
NCBI RH Map21291.2UniSTS
GeneMap99-G3 RH Map211153.0UniSTS
D21S1439  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,141,535 - 39,141,854UniSTSGRCh37
Build 362138,063,405 - 38,063,724RGDNCBI36
Celera2124,340,102 - 24,340,421RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,614,596 - 24,614,918UniSTS
SHGC-87628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,030,901 - 39,031,071UniSTSGRCh37
Build 362137,952,771 - 37,952,941RGDNCBI36
Celera2124,229,027 - 24,229,197RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,504,197 - 24,504,367UniSTS
TNG Radiation Hybrid Map2114158.0UniSTS
GeneMap99-GB4 RH Map21195.83UniSTS
G34693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,192,367 - 39,192,481UniSTSGRCh37
Build 362138,114,237 - 38,114,351RGDNCBI36
Celera2124,390,934 - 24,391,048RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,665,436 - 24,665,550UniSTS
G20645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,192,360 - 39,192,484UniSTSGRCh37
Build 362138,114,230 - 38,114,354RGDNCBI36
Celera2124,390,927 - 24,391,051RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,665,429 - 24,665,553UniSTS
A006A13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,192,360 - 39,192,484UniSTSGRCh37
Build 362138,114,230 - 38,114,354RGDNCBI36
Celera2124,390,927 - 24,391,051RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,665,429 - 24,665,553UniSTS
GeneMap99-GB4 RH Map21197.63UniSTS
NCBI RH Map21305.6UniSTS
SHGC-52138  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,996,948 - 38,997,119UniSTSGRCh37
Build 362137,918,818 - 37,918,989RGDNCBI36
Celera2124,195,059 - 24,195,230RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,470,297 - 24,470,468UniSTS
SHGC-10477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,057,326 - 39,057,538UniSTSGRCh37
Build 362137,979,196 - 37,979,408RGDNCBI36
Celera2124,255,448 - 24,255,660RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,530,736 - 24,530,948UniSTS
TNG Radiation Hybrid Map2114169.0UniSTS
Stanford-G3 RH Map211150.0UniSTS
G02353  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,090,596 - 39,090,739UniSTSGRCh37
Build 362138,012,466 - 38,012,609RGDNCBI36
Celera2124,289,187 - 24,289,330RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,564,467 - 24,564,610UniSTS
RH78100  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,031,062 - 39,031,181UniSTSGRCh37
GRCh371201,306,343 - 201,307,955UniSTSGRCh37
Build 362137,952,932 - 37,953,051RGDNCBI36
Celera1174,430,196 - 174,431,808UniSTS
Celera2124,229,188 - 24,229,307RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,504,358 - 24,504,477UniSTS
HuRef1172,472,609 - 172,474,219UniSTS
GeneMap99-GB4 RH Map21195.83UniSTS
G29044  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,164,626 - 39,164,730UniSTSGRCh37
Build 362138,086,496 - 38,086,600RGDNCBI36
Celera2124,363,193 - 24,363,297RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,637,688 - 24,637,792UniSTS
G29045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,285,116 - 39,285,251UniSTSGRCh37
Build 362138,206,986 - 38,207,121RGDNCBI36
Celera2124,483,685 - 24,483,820RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,758,297 - 24,758,432UniSTS
SHGC-52126  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,030,966 - 39,031,215UniSTSGRCh37
Build 362137,952,836 - 37,953,085RGDNCBI36
Celera2124,229,092 - 24,229,341RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,504,262 - 24,504,511UniSTS
TNG Radiation Hybrid Map2114155.0UniSTS
D21S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,251,995 - 39,252,228UniSTSGRCh37
Build 362138,173,865 - 38,174,098RGDNCBI36
Celera2124,450,560 - 24,450,793RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,725,164 - 24,725,395UniSTS
Whitehead-YAC Contig Map21 UniSTS
SHGC-51857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,267,009 - 39,267,115UniSTSGRCh37
Build 362138,188,879 - 38,188,985RGDNCBI36
Celera2124,465,577 - 24,465,683RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,740,189 - 24,740,295UniSTS
TNG Radiation Hybrid Map2114225.0UniSTS
SHGC-10474  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,059,076 - 39,059,174UniSTSGRCh37
Build 362137,980,946 - 37,981,044RGDNCBI36
Celera2124,257,198 - 24,257,296RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,532,810 - 24,532,908UniSTS
TNG Radiation Hybrid Map2114165.0UniSTS
Stanford-G3 RH Map211136.0UniSTS
RH18020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372138,996,966 - 38,997,103UniSTSGRCh37
Build 362137,918,836 - 37,918,973RGDNCBI36
Celera2124,195,077 - 24,195,214RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,470,315 - 24,470,452UniSTS
GeneMap99-GB4 RH Map21195.83UniSTS
NCBI RH Map21294.3UniSTS
G29043  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372139,131,692 - 39,131,787UniSTSGRCh37
Build 362138,053,562 - 38,053,657RGDNCBI36
Celera2124,330,259 - 24,330,354RGD
Cytogenetic Map21q22.1UniSTS
HuRef2124,604,750 - 24,604,845UniSTS


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 1 3 1 77 1 4
Low 9 1 285 9 21 9 77 10 2118 21 29 66 1 3
Below cutoff 2189 2405 920 312 831 183 3625 2010 1398 193 1144 1201 133 1052 2479 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH004772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ001894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW015013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF110130 (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
  D87327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY332424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OK050111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U24660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000609713   ⟹   ENSP00000477437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2137,607,373 - 37,916,457 (-)Ensembl
RefSeq Acc Id: ENST00000645093   ⟹   ENSP00000493772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2137,623,559 - 38,121,345 (-)Ensembl
RefSeq Acc Id: NM_002240   ⟹   NP_002231
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382137,607,373 - 37,916,457 (-)NCBI
GRCh372138,996,778 - 39,288,741 (-)NCBI
Build 362137,918,655 - 38,210,566 (-)NCBI Archive
HuRef2124,470,127 - 24,761,921 (-)NCBI
CHM1_12138,557,669 - 38,850,112 (-)NCBI
T2T-CHM13v2.02135,989,771 - 36,299,971 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_002231   ⟸   NM_002240
- UniProtKB: Q3MJ74 (UniProtKB/Swiss-Prot),   Q53WW6 (UniProtKB/Swiss-Prot),   P48051 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000477437   ⟸   ENST00000609713
RefSeq Acc Id: ENSP00000493772   ⟸   ENST00000645093

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P48051-F1-model_v2 AlphaFold P48051 1-423 view protein structure

Promoters
RGD ID:13602810
Promoter ID:EPDNEW_H27589
Type:initiation region
Name:KCNJ6_3
Description:potassium voltage-gated channel subfamily J member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27590  EPDNEW_H27591  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382137,863,935 - 37,863,995EPDNEW
RGD ID:13602812
Promoter ID:EPDNEW_H27590
Type:initiation region
Name:KCNJ6_2
Description:potassium voltage-gated channel subfamily J member 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27589  EPDNEW_H27591  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382137,916,370 - 37,916,430EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6267 AgrOrtholog
COSMIC KCNJ6 COSMIC
Ensembl Genes ENSG00000157542 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000609713 ENTREZGENE
  ENST00000609713.2 UniProtKB/Swiss-Prot
  ENST00000645093.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot
  2.60.40.1400 UniProtKB/Swiss-Prot
GTEx ENSG00000157542 GTEx
HGNC ID HGNC:6267 ENTREZGENE
Human Proteome Map KCNJ6 Human Proteome Map
InterPro Ig_E-set UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir3.2 UniProtKB/Swiss-Prot
  K_chnl_inward-rec_Kir_cyto UniProtKB/Swiss-Prot
  Kir_TM UniProtKB/Swiss-Prot
KEGG Report hsa:3763 UniProtKB/Swiss-Prot
NCBI Gene 3763 ENTREZGENE
OMIM 600877 OMIM
PANTHER PTHR11767 UniProtKB/Swiss-Prot
  PTHR11767:SF19 UniProtKB/Swiss-Prot
Pfam IRK UniProtKB/Swiss-Prot
  IRK_C UniProtKB/Swiss-Prot
PharmGKB KCNJ6 RGD, PharmGKB
PIRSF GIRK_kir UniProtKB/Swiss-Prot
PRINTS KIR32CHANNEL UniProtKB/Swiss-Prot
  KIRCHANNEL UniProtKB/Swiss-Prot
Superfamily-SCOP SSF81296 UniProtKB/Swiss-Prot
  Voltage-gated potassium channels UniProtKB/Swiss-Prot
UniProt KCNJ6_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q3MJ74 ENTREZGENE
  Q53WW6 ENTREZGENE
UniProt Secondary Q3MJ74 UniProtKB/Swiss-Prot
  Q53WW6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-07-23 KCNJ6  potassium inwardly rectifying channel subfamily J member 6  KCNJ6  potassium voltage-gated channel subfamily J member 6  Symbol and/or name change 5135510 APPROVED
2016-02-10 KCNJ6  potassium voltage-gated channel subfamily J member 6  KCNJ6  potassium channel, inwardly rectifying subfamily J, member 6  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNJ6  potassium channel, inwardly rectifying subfamily J, member 6  KCNJ6  potassium inwardly-rectifying channel, subfamily J, member 6  Symbol and/or name change 5135510 APPROVED