KCNK9 (potassium two pore domain channel subfamily K member 9) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: KCNK9 (potassium two pore domain channel subfamily K member 9) Homo sapiens
Analyze
Symbol: KCNK9
Name: potassium two pore domain channel subfamily K member 9
RGD ID: 734260
HGNC Page HGNC:6283
Description: Enables potassium channel activity. Acts upstream of or within potassium ion import across plasma membrane. Located in plasma membrane. Implicated in Birk-Barel syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acid-sensitive potassium channel protein TASK-3; BIBARS; K2p9.1; KT3.2; MGC138268; MGC138270; potassium 2-pore domain leak channel TASK3; potassium channel subfamily K member 9; potassium channel TASK3; potassium channel, subfamily k, member 9 (task-3); potassium channel, two pore domain subfamily K, member 9; TASK-3; TASK3; TASK32; TWIK-related acid-sensitive K(+) channel 3; TWIK-related acid-sensitive K+ 3; TWIK-related acid-sensitive K+ channel 3; two pore K(+) channel KT3.2; two pore potassium channel KT3.2
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
GRCh388139,600,838 - 139,703,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8139,600,838 - 139,704,109 (-)EnsemblGRCh38hg38GRCh38
GRCh378140,613,081 - 140,715,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368140,693,986 - 140,784,481 (-)NCBINCBI36Build 36hg18NCBI36
Build 348140,693,985 - 140,784,481NCBI
Celera8136,793,017 - 136,883,509 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8135,936,234 - 135,960,886 (-)NCBIHuRef
CHM1_18140,665,099 - 140,755,502 (-)NCBICHM1_1
T2T-CHM13v2.08140,720,918 - 140,823,244 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)
synaptic vesicle  (IEA,ISO)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. TASK-3, a new member of the tandem pore K(+) channel family. Kim Y, etal., J Biol Chem 2000 Mar 31;275(13):9340-7.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10747866   PMID:11042359   PMID:11249964   PMID:11256078   PMID:11431495   PMID:11749039   PMID:11857586   PMID:11886861   PMID:12433946   PMID:12477932   PMID:12606773   PMID:12676587  
PMID:12782791   PMID:14702039   PMID:15197476   PMID:15282272   PMID:15284350   PMID:15322244   PMID:15489334   PMID:15601307   PMID:15781965   PMID:15789217   PMID:16344560   PMID:16382106  
PMID:17013562   PMID:17374744   PMID:17547699   PMID:17704508   PMID:17828294   PMID:18094996   PMID:18187620   PMID:18217213   PMID:18375952   PMID:18417474   PMID:18678320   PMID:18824070  
PMID:18854423   PMID:19139046   PMID:19703964   PMID:20049674   PMID:20379614   PMID:20931182   PMID:21357689   PMID:21512417   PMID:21540350   PMID:21700879   PMID:21710317   PMID:21761257  
PMID:21873635   PMID:21910834   PMID:21916012   PMID:21946151   PMID:22893713   PMID:23007462   PMID:23164059   PMID:23250752   PMID:23564779   PMID:23772394   PMID:23807092   PMID:24126847  
PMID:24307172   PMID:24342771   PMID:24392765   PMID:24980697   PMID:25078964   PMID:25231870   PMID:25318378   PMID:25411281   PMID:25420509   PMID:25482670   PMID:25599232   PMID:25655935  
PMID:26480920   PMID:27151206   PMID:28333430   PMID:28672280   PMID:28882594   PMID:29596383   PMID:31423744   PMID:31810225   PMID:34202296   PMID:35011589   PMID:35682653   PMID:35698242  
PMID:36613787  


Genomics

Comparative Map Data
KCNK9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388139,600,838 - 139,703,123 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8139,600,838 - 139,704,109 (-)EnsemblGRCh38hg38GRCh38
GRCh378140,613,081 - 140,715,366 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368140,693,986 - 140,784,481 (-)NCBINCBI36Build 36hg18NCBI36
Build 348140,693,985 - 140,784,481NCBI
Celera8136,793,017 - 136,883,509 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8135,936,234 - 135,960,886 (-)NCBIHuRef
CHM1_18140,665,099 - 140,755,502 (-)NCBICHM1_1
T2T-CHM13v2.08140,720,918 - 140,823,244 (-)NCBIT2T-CHM13v2.0
Kcnk9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391572,373,722 - 72,422,415 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1572,372,938 - 72,418,189 (-)EnsemblGRCm39 Ensembl
GRCm381572,501,873 - 72,548,614 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1572,501,089 - 72,546,340 (-)EnsemblGRCm38mm10GRCm38
MGSCv371572,342,549 - 72,376,709 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361572,339,375 - 72,373,535 (-)NCBIMGSCv36mm8
Celera1574,012,672 - 74,045,135 (-)NCBICelera
Cytogenetic Map15D3NCBI
Kcnk9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87106,316,783 - 106,362,452 (-)NCBIGRCr8
mRatBN7.27104,429,186 - 104,473,924 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7104,437,934 - 104,473,175 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7106,175,328 - 106,209,602 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07108,396,911 - 108,431,185 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07108,344,952 - 108,379,226 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07113,894,918 - 113,938,397 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7113,903,557 - 113,937,941 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07113,833,880 - 113,875,792 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47110,232,743 - 110,267,546 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17110,266,630 - 110,301,866 (-)NCBI
Celera7100,852,648 - 100,887,465 (-)NCBICelera
Cytogenetic Map7q34NCBI
Kcnk9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546113,412,436 - 13,476,803 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546113,406,969 - 13,476,720 (-)NCBIChiLan1.0ChiLan1.0
KCNK9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27156,994,384 - 157,099,937 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18132,522,844 - 132,628,147 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08136,270,521 - 136,376,248 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18139,366,227 - 139,471,051 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8139,366,227 - 139,472,484 (-)Ensemblpanpan1.1panPan2
KCNK9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11334,461,430 - 34,475,070 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1334,473,488 - 34,474,866 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1334,390,607 - 34,467,593 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01334,854,737 - 34,931,927 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1334,856,016 - 34,933,171 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11334,578,072 - 34,655,127 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01334,667,586 - 34,744,661 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01335,088,113 - 35,164,345 (-)NCBIUU_Cfam_GSD_1.0
Kcnk9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053033,834,735 - 3,868,314 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647011,260,828 - 11,296,854 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647011,260,835 - 11,294,391 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNK9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl43,561,939 - 3,641,315 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.143,562,086 - 3,643,248 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.243,047,161 - 3,123,869 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNK9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18133,872,599 - 133,964,259 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8133,869,524 - 133,964,415 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660395,961,097 - 6,065,978 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcnk9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473516,683,004 - 16,754,158 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473516,683,099 - 16,744,648 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNK9
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) single nucleotide variant Birk-Barel syndrome [RCV000005007]|not provided [RCV000203121] Chr8:139618677 [GRCh38]
Chr8:140630920 [GRCh37]
Chr8:8q24.3		 pathogenic
NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val) single nucleotide variant Birk-Barel syndrome [RCV000988120]|not provided [RCV001722449] Chr8:139702968 [GRCh38]
Chr8:140715211 [GRCh37]
Chr8:8q24.3		 likely benign|uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001282534.1(KCNK9):c.986C>T (p.Ser329Phe) single nucleotide variant Malignant melanoma [RCV000068175] Chr8:139618397 [GRCh38]
Chr8:140630640 [GRCh37]
Chr8:140699822 [NCBI36]
Chr8:8q24.3		 not provided
NM_001282534.1(KCNK9):c.950C>T (p.Ser317Phe) single nucleotide variant Malignant melanoma [RCV000068176] Chr8:139618433 [GRCh38]
Chr8:140630676 [GRCh37]
Chr8:140699858 [NCBI36]
Chr8:8q24.3		 not provided
NM_001282534.1(KCNK9):c.284-28741C>G single nucleotide variant Lung cancer [RCV000107196] Chr8:139647840 [GRCh38]
Chr8:140660083 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.1(KCNK9):c.283+40822G>A single nucleotide variant Lung cancer [RCV000107197] Chr8:139661888 [GRCh38]
Chr8:140674131 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.1(KCNK9):c.283+25338G>A single nucleotide variant Lung cancer [RCV000107198] Chr8:139677372 [GRCh38]
Chr8:140689615 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3		 likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
NM_001282534.2(KCNK9):c.599T>C (p.Ile200Thr) single nucleotide variant Birk-Barel syndrome [RCV001270891]|not provided [RCV001586102] Chr8:139618784 [GRCh38]
Chr8:140631027 [GRCh37]
Chr8:8q24.3		 uncertain significance
NR_104210.2(KCNK9):n.1375dup duplication Birk-Barel Intellectual Disability Dysmorphism Syndrome [RCV000285741] Chr8:139612555..139612556 [GRCh38]
Chr8:140624798..140624799 [GRCh37]
Chr8:8q24.3		 benign
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) single nucleotide variant Birk-Barel syndrome [RCV000679851]|Inborn genetic diseases [RCV001266147]|not provided [RCV000413977] Chr8:139618991 [GRCh38]
Chr8:140631234 [GRCh37]
Chr8:8q24.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg) single nucleotide variant Birk-Barel syndrome [RCV000449636] Chr8:139618677 [GRCh38]
Chr8:140630920 [GRCh37]
Chr8:8q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001282534.2(KCNK9):c.284-10C>G single nucleotide variant KCNK9-related condition [RCV003920521]|not provided [RCV000880865] Chr8:139619109 [GRCh38]
Chr8:140631352 [GRCh37]
Chr8:8q24.3		 benign
NM_001282534.2(KCNK9):c.375C>T (p.Phe125=) single nucleotide variant KCNK9-related condition [RCV003968001]|not provided [RCV000882009] Chr8:139619008 [GRCh38]
Chr8:140631251 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_001282534.2(KCNK9):c.978C>T (p.Tyr326=) single nucleotide variant not provided [RCV000965786] Chr8:139618405 [GRCh38]
Chr8:140630648 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.466A>G (p.Met156Val) single nucleotide variant not provided [RCV000782057] Chr8:139618917 [GRCh38]
Chr8:140631160 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_001282534.2(KCNK9):c.825C>T (p.Ile275=) single nucleotide variant KCNK9-related condition [RCV003930850]|not provided [RCV000893697] Chr8:139618558 [GRCh38]
Chr8:140630801 [GRCh37]
Chr8:8q24.3		 benign|likely benign
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser) single nucleotide variant Birk-Barel syndrome [RCV000785089] Chr8:139702770 [GRCh38]
Chr8:140715013 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.3(chr8:140699041-141497553)x3 copy number gain not provided [RCV001006149] Chr8:140699041..141497553 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.565G>A (p.Ala189Thr) single nucleotide variant not provided [RCV001563121] Chr8:139618818 [GRCh38]
Chr8:140631061 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.660C>T (p.Tyr220=) single nucleotide variant not provided [RCV000930328] Chr8:139618723 [GRCh38]
Chr8:140630966 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.270C>G (p.Val90=) single nucleotide variant not provided [RCV000908392] Chr8:139702723 [GRCh38]
Chr8:140714966 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.1038C>T (p.Leu346=) single nucleotide variant not provided [RCV000892649] Chr8:139618345 [GRCh38]
Chr8:140630588 [GRCh37]
Chr8:8q24.3		 benign
NM_001282534.2(KCNK9):c.309C>T (p.Thr103=) single nucleotide variant not provided [RCV000909464] Chr8:139619074 [GRCh38]
Chr8:140631317 [GRCh37]
Chr8:8q24.3		 benign
NM_001282534.2(KCNK9):c.509C>T (p.Thr170Met) single nucleotide variant not specified [RCV001192995] Chr8:139618874 [GRCh38]
Chr8:140631117 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.636T>C (p.Gly212=) single nucleotide variant not specified [RCV001529008] Chr8:139618747 [GRCh38]
Chr8:140630990 [GRCh37]
Chr8:8q24.3		 benign
NM_001282534.2(KCNK9):c.162C>T (p.Ile54=) single nucleotide variant not provided [RCV000911798] Chr8:139702831 [GRCh38]
Chr8:140715074 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.977A>G (p.Tyr326Cys) single nucleotide variant not provided [RCV003234321] Chr8:139618406 [GRCh38]
Chr8:140630649 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_001282534.2(KCNK9):c.710C>A (p.Ala237Asp) single nucleotide variant Birk-Barel syndrome [RCV001262218] Chr8:139618673 [GRCh38]
Chr8:140630916 [GRCh37]
Chr8:8q24.3		 likely pathogenic
NM_001282534.2(KCNK9):c.391C>T (p.Arg131Cys) single nucleotide variant Birk-Barel syndrome [RCV001262988]|not provided [RCV001797163] Chr8:139618992 [GRCh38]
Chr8:140631235 [GRCh37]
Chr8:8q24.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001282534.2(KCNK9):c.50C>A (p.Thr17Asn) single nucleotide variant Inborn genetic diseases [RCV001266409] Chr8:139702943 [GRCh38]
Chr8:140715186 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.392G>C (p.Arg131Pro) single nucleotide variant Inborn genetic diseases [RCV001266119] Chr8:139618991 [GRCh38]
Chr8:140631234 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.467T>C (p.Met156Thr) single nucleotide variant Birk-Barel syndrome [RCV001336347] Chr8:139618916 [GRCh38]
Chr8:140631159 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.907C>T (p.Arg303Cys) single nucleotide variant Autism spectrum disorder [RCV001291176] Chr8:139618476 [GRCh38]
Chr8:140630719 [GRCh37]
Chr8:8q24.3		 association
NM_001282534.2(KCNK9):c.551G>A (p.Trp184Ter) single nucleotide variant not provided [RCV001338649] Chr8:139618832 [GRCh38]
Chr8:140631075 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139306742-140700896)x3 copy number gain not provided [RCV001833058] Chr8:139306742..140700896 [GRCh37]
Chr8:8q24.23-24.3		 uncertain significance
NM_001282534.2(KCNK9):c.80A>C (p.Asp27Ala) single nucleotide variant not provided [RCV003126942] Chr8:139702913 [GRCh38]
Chr8:140715156 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.235A>G (p.Lys79Glu) single nucleotide variant not provided [RCV001763208] Chr8:139702758 [GRCh38]
Chr8:140715001 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.403_405del (p.Phe135del) deletion not provided [RCV001758005] Chr8:139618978..139618980 [GRCh38]
Chr8:140631221..140631223 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.929G>C (p.Arg310Pro) single nucleotide variant not provided [RCV001770661] Chr8:139618454 [GRCh38]
Chr8:140630697 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.763C>T (p.Arg255Trp) single nucleotide variant Inborn genetic diseases [RCV002540299]|not provided [RCV001772430] Chr8:139618620 [GRCh38]
Chr8:140630863 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 copy number gain not provided [RCV001795855] Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3		 uncertain significance
NM_001282534.2(KCNK9):c.932C>A (p.Ser311Ter) single nucleotide variant Birk-Barel syndrome [RCV002506761]|not provided [RCV001752095] Chr8:139618451 [GRCh38]
Chr8:140630694 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139692209-141412715)x3 copy number gain not provided [RCV001795856] Chr8:139692209..141412715 [GRCh37]
Chr8:8q24.23-24.3		 uncertain significance
NM_001282534.2(KCNK9):c.464C>G (p.Ser155Cys) single nucleotide variant not provided [RCV001757015] Chr8:139618919 [GRCh38]
Chr8:140631162 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_001282534.2(KCNK9):c.552G>A (p.Trp184Ter) single nucleotide variant Developmental disorder [RCV001843787] Chr8:139618831 [GRCh38]
Chr8:140631074 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_139601496)_(141468663_?)dup duplication not provided [RCV003122813] Chr8:139601496..141468663 [GRCh37]
Chr8:8q24.23-24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_001282534.2(KCNK9):c.332T>A (p.Met111Lys) single nucleotide variant not provided [RCV002269586] Chr8:139619051 [GRCh38]
Chr8:140631294 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.847C>T (p.Arg283Trp) single nucleotide variant Inborn genetic diseases [RCV002813449] Chr8:139618536 [GRCh38]
Chr8:140630779 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.914A>G (p.Gln305Arg) single nucleotide variant Inborn genetic diseases [RCV002812305] Chr8:139618469 [GRCh38]
Chr8:140630712 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.350G>T (p.Gly117Val) single nucleotide variant Inborn genetic diseases [RCV002702725] Chr8:139619033 [GRCh38]
Chr8:140631276 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.179G>A (p.Arg60Gln) single nucleotide variant Inborn genetic diseases [RCV002717651] Chr8:139702814 [GRCh38]
Chr8:140715057 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) copy number gain Distal trisomy 8q [RCV003325441] Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_001282534.2(KCNK9):c.550T>G (p.Trp184Gly) single nucleotide variant not provided [RCV003327747] Chr8:139618833 [GRCh38]
Chr8:140631076 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.107G>A (p.Arg36His) single nucleotide variant not provided [RCV003322971] Chr8:139702886 [GRCh38]
Chr8:140715129 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.14A>G (p.Asn5Ser) single nucleotide variant not provided [RCV003332643] Chr8:139702979 [GRCh38]
Chr8:140715222 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.373T>C (p.Phe125Leu) single nucleotide variant Birk-Barel syndrome [RCV003455858] Chr8:139619010 [GRCh38]
Chr8:140631253 [GRCh37]
Chr8:8q24.3		 not provided
NM_001282534.2(KCNK9):c.1105A>T (p.Lys369Ter) single nucleotide variant not provided [RCV003441697] Chr8:139618278 [GRCh38]
Chr8:140630521 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.364C>G (p.Leu122Val) single nucleotide variant not provided [RCV003441357] Chr8:139619019 [GRCh38]
Chr8:140631262 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.439T>C (p.Cys147Arg) single nucleotide variant not provided [RCV003443481] Chr8:139618944 [GRCh38]
Chr8:140631187 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.863C>T (p.Ala288Val) single nucleotide variant KCNK9-related condition [RCV003397291] Chr8:139618520 [GRCh38]
Chr8:140630763 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.803G>A (p.Arg268His) single nucleotide variant not provided [RCV003440679] Chr8:139618580 [GRCh38]
Chr8:140630823 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.86T>G (p.Leu29Arg) single nucleotide variant not provided [RCV003440680] Chr8:139702907 [GRCh38]
Chr8:140715150 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.973C>A (p.His325Asn) single nucleotide variant Birk-Barel syndrome [RCV003613036] Chr8:139618410 [GRCh38]
Chr8:140630653 [GRCh37]
Chr8:8q24.3		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001282534.2(KCNK9):c.459C>T (p.Asp153=) single nucleotide variant KCNK9-related condition [RCV003936836] Chr8:139618924 [GRCh38]
Chr8:140631167 [GRCh37]
Chr8:8q24.3		 likely benign
NM_001282534.2(KCNK9):c.1056C>G (p.Ser352Arg) single nucleotide variant not provided [RCV003887710] Chr8:139618327 [GRCh38]
Chr8:140630570 [GRCh37]
Chr8:8q24.3		 uncertain significance
NM_001282534.2(KCNK9):c.582C>T (p.Phe194=) single nucleotide variant KCNK9-related condition [RCV003924004] Chr8:139618801 [GRCh38]
Chr8:140631044 [GRCh37]
Chr8:8q24.3		 likely benign
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2219
Count of miRNA genes:1018
Interacting mature miRNAs:1222
Transcripts:ENST00000303015, ENST00000519923, ENST00000520439, ENST00000522317, ENST00000523477, ENST00000523653
Prediction methods: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
D8S1741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378140,675,848 - 140,676,143UniSTSGRCh37
Build 368140,745,030 - 140,745,325RGDNCBI36
Celera8136,844,060 - 136,844,357RGD
Cytogenetic Map8q24.3UniSTS
HuRef8135,987,277 - 135,987,574UniSTS
Marshfield Genetic Map8162.94RGD
Marshfield Genetic Map8162.94UniSTS
Genethon Genetic Map8161.5UniSTS
D8S1743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378140,649,955 - 140,650,105UniSTSGRCh37
Build 368140,719,137 - 140,719,287RGDNCBI36
Celera8136,818,168 - 136,818,318RGD
Cytogenetic Map8q24.3UniSTS
HuRef8135,961,385 - 135,961,535UniSTS
Marshfield Genetic Map8162.94RGD
Marshfield Genetic Map8162.94UniSTS
Genethon Genetic Map8161.5UniSTS
TNG Radiation Hybrid Map869880.0UniSTS
GeneMap99-GB4 RH Map8536.87UniSTS
G62869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378140,626,956 - 140,627,238UniSTSGRCh37
Build 368140,696,138 - 140,696,420RGDNCBI36
Celera8136,795,169 - 136,795,451RGD
Cytogenetic Map8q24.3UniSTS
HuRef8135,938,386 - 135,938,668UniSTS
TNG Radiation Hybrid Map869872.0UniSTS
KCNK9_889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378140,630,218 - 140,631,061UniSTSGRCh37
Build 368140,699,400 - 140,700,243RGDNCBI36
Celera8136,798,431 - 136,799,274RGD
HuRef8135,941,648 - 135,942,491UniSTS


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 6 10 503 19 17
Low 266 182 346 29 97 30 64 57 1610 95 101 83 1 6 29
Below cutoff 1985 2007 904 281 1107 151 3589 1822 1398 198 1085 1108 135 931 2407 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_104210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC007869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF212829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF248241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF257080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF279809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW085193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX249951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX407225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX407227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY190605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX092753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA416784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN510330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R38554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000303015   ⟹   ENSP00000302166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,612,561 - 139,702,998 (-)Ensembl
RefSeq Acc Id: ENST00000519923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,612,326 - 139,616,047 (-)Ensembl
RefSeq Acc Id: ENST00000520439   ⟹   ENSP00000430676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,617,121 - 139,703,123 (-)Ensembl
RefSeq Acc Id: ENST00000522317   ⟹   ENSP00000429847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,600,838 - 139,703,041 (-)Ensembl
RefSeq Acc Id: ENST00000523477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,600,845 - 139,654,350 (-)Ensembl
RefSeq Acc Id: ENST00000523653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,601,078 - 139,602,064 (-)Ensembl
RefSeq Acc Id: ENST00000647605   ⟹   ENSP00000497893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,617,159 - 139,654,330 (-)Ensembl
RefSeq Acc Id: ENST00000648164   ⟹   ENSP00000498198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,617,121 - 139,704,109 (-)Ensembl
RefSeq Acc Id: ENST00000648481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,617,206 - 139,633,861 (-)Ensembl
RefSeq Acc Id: ENST00000649473   ⟹   ENSP00000498160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,600,839 - 139,702,956 (-)Ensembl
RefSeq Acc Id: ENST00000649696   ⟹   ENSP00000497127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,600,845 - 139,654,330 (-)Ensembl
RefSeq Acc Id: ENST00000650269   ⟹   ENSP00000496915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8139,601,097 - 139,703,093 (-)Ensembl
RefSeq Acc Id: NM_001282534   ⟹   NP_001269463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,617,121 - 139,703,123 (-)NCBI
HuRef8135,924,509 - 135,960,886 (-)NCBI
CHM1_18140,669,659 - 140,755,502 (-)NCBI
T2T-CHM13v2.08140,737,219 - 140,823,244 (-)NCBI
Sequence:
RefSeq Acc Id: NR_104210
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,600,838 - 139,703,123 (-)NCBI
HuRef8135,924,509 - 135,960,886 (-)NCBI
CHM1_18140,653,374 - 140,755,502 (-)NCBI
T2T-CHM13v2.08140,720,918 - 140,823,244 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001269463   ⟸   NM_001282534
- UniProtKB: Q2M290 (UniProtKB/Swiss-Prot),   Q540F2 (UniProtKB/Swiss-Prot),   Q9NPC2 (UniProtKB/Swiss-Prot),   A0A3B3IU12 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498198   ⟸   ENST00000648164
RefSeq Acc Id: ENSP00000498160   ⟸   ENST00000649473
RefSeq Acc Id: ENSP00000497127   ⟸   ENST00000649696
RefSeq Acc Id: ENSP00000496915   ⟸   ENST00000650269
RefSeq Acc Id: ENSP00000430676   ⟸   ENST00000520439
RefSeq Acc Id: ENSP00000429847   ⟸   ENST00000522317
RefSeq Acc Id: ENSP00000302166   ⟸   ENST00000303015
RefSeq Acc Id: ENSP00000497893   ⟸   ENST00000647605
Protein Domains
Potassium channel

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NPC2-F1-model_v2 AlphaFold Q9NPC2 1-374 view protein structure

Promoters
RGD ID:7214247
Promoter ID:EPDNEW_H12869
Type:initiation region
Name:KCNK9_1
Description:potassium two pore domain channel subfamily K member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388139,703,114 - 139,703,174EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6283 AgrOrtholog
COSMIC KCNK9 COSMIC
Ensembl Genes ENSG00000169427 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000303015.2 UniProtKB/Swiss-Prot
  ENST00000520439 ENTREZGENE
  ENST00000520439.3 UniProtKB/Swiss-Prot
  ENST00000522317.5 UniProtKB/Swiss-Prot
  ENST00000523477 ENTREZGENE
  ENST00000647605.1 UniProtKB/TrEMBL
  ENST00000648164.1 UniProtKB/Swiss-Prot
  ENST00000649473.1 UniProtKB/TrEMBL
  ENST00000649696.1 UniProtKB/TrEMBL
  ENST00000650269.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000169427 GTEx
HGNC ID HGNC:6283 ENTREZGENE
Human Proteome Map KCNK9 Human Proteome Map
InterPro 2pore_dom_K_chnl UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2pore_dom_K_chnl_TASK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNK9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51305 UniProtKB/Swiss-Prot
NCBI Gene 51305 ENTREZGENE
OMIM 605874 OMIM
PANTHER POTASSIUM CHANNEL SUBFAMILY K MEMBER 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ion_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30065 PharmGKB
PIRSF K_channel_subfamily_K_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS 2POREKCHANEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TASK3CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TASKCHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Voltage-gated potassium channels UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3ITR0_HUMAN UniProtKB/TrEMBL
  A0A3B3IU12 ENTREZGENE, UniProtKB/TrEMBL
  A0A6H1Z4W8_HUMAN UniProtKB/TrEMBL
  KCNK9_HUMAN UniProtKB/Swiss-Prot
  Q2M290 ENTREZGENE
  Q540F2 ENTREZGENE
  Q9NPC2 ENTREZGENE
UniProt Secondary Q2M290 UniProtKB/Swiss-Prot
  Q540F2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNK9  potassium two pore domain channel subfamily K member 9    potassium channel, two pore domain subfamily K, member 9  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNK9  potassium channel, two pore domain subfamily K, member 9    potassium channel, subfamily K, member 9  Symbol and/or name change 5135510 APPROVED