RIOK1 (RIO kinase 1) - Rat Genome Database

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Gene: RIOK1 (RIO kinase 1) Homo sapiens
Analyze
Symbol: RIOK1
Name: RIO kinase 1
RGD ID: 1314499
HGNC Page HGNC:18656
Description: Predicted to enable protein serine/threonine kinase activity. Involved in maturation of SSU-rRNA and positive regulation of rRNA processing. Located in cytosol. Part of methyltransferase complex and preribosome, small subunit precursor.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AD034; bA288G3.1; FLJ30006; MGC12903; prematurely truncated due to insertion of intronic sequence; RIO1; RRP10; serine/threonine-protein kinase RIO1
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
GRCh3867,389,808 - 7,418,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,389,793 - 7,418,037 (+)EnsemblGRCh38hg38GRCh38
GRCh3767,390,041 - 7,418,270 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,335,061 - 7,363,269 (+)NCBINCBI36Build 36hg18NCBI36
Celera68,619,806 - 8,648,013 (+)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,267,167 - 7,295,376 (+)NCBIHuRef
CHM1_167,392,173 - 7,420,383 (+)NCBICHM1_1
T2T-CHM13v2.067,258,847 - 7,287,080 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. CK1delta and CK1epsilon are components of human 40S subunit precursors required for cytoplasmic 40S maturation. Zemp I, etal., J Cell Sci. 2014 Mar 15;127(Pt 6):1242-53. doi: 10.1242/jcs.138719. Epub 2014 Jan 14.
Additional References at PubMed
PMID:12384809   PMID:12477932   PMID:14702039   PMID:15324660   PMID:15489334   PMID:16183636   PMID:18271526   PMID:19322201   PMID:20467437   PMID:21081503   PMID:21832049   PMID:21873635  
PMID:22072790   PMID:22268729   PMID:23084401   PMID:23184937   PMID:23246001   PMID:23398456   PMID:23459592   PMID:24948609   PMID:25281560   PMID:25720964   PMID:25798074   PMID:25852190  
PMID:25921289   PMID:26170170   PMID:26186194   PMID:26460568   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26972000   PMID:26990986   PMID:27068473   PMID:27173435   PMID:27545878  
PMID:27909846   PMID:28031328   PMID:28499923   PMID:28514442   PMID:28515276   PMID:28581483   PMID:28718761   PMID:28977470   PMID:29229926   PMID:29331416   PMID:29384474   PMID:29395067  
PMID:29499938   PMID:29507755   PMID:29844126   PMID:30209976   PMID:30442662   PMID:30463901   PMID:30631154   PMID:30948266   PMID:31091453   PMID:31471107   PMID:31586073   PMID:31665637  
PMID:31980649   PMID:32572027   PMID:32599985   PMID:32698014   PMID:32707033   PMID:32807901   PMID:32913203   PMID:33001583   PMID:33306668   PMID:33417871   PMID:33624332   PMID:33731348  
PMID:33742100   PMID:33908345   PMID:33916271   PMID:33961781   PMID:34079125   PMID:34373451   PMID:34672954   PMID:34728620   PMID:34857952   PMID:35271311   PMID:35439318   PMID:35446349  
PMID:35589951   PMID:35776542   PMID:35831314   PMID:35941108   PMID:35944360   PMID:36042349   PMID:36244648   PMID:36273042   PMID:36321656   PMID:36574265   PMID:36590901   PMID:36674791  
PMID:36774506   PMID:37301535   PMID:37827155   PMID:38113892  


Genomics

Comparative Map Data
RIOK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3867,389,808 - 7,418,037 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl67,389,793 - 7,418,037 (+)EnsemblGRCh38hg38GRCh38
GRCh3767,390,041 - 7,418,270 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3667,335,061 - 7,363,269 (+)NCBINCBI36Build 36hg18NCBI36
Celera68,619,806 - 8,648,013 (+)NCBICelera
Cytogenetic Map6p24.3NCBI
HuRef67,267,167 - 7,295,376 (+)NCBIHuRef
CHM1_167,392,173 - 7,420,383 (+)NCBICHM1_1
T2T-CHM13v2.067,258,847 - 7,287,080 (+)NCBIT2T-CHM13v2.0
Riok1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391338,220,965 - 38,245,409 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1338,220,971 - 38,245,409 (+)EnsemblGRCm39 Ensembl
GRCm381338,036,989 - 38,061,433 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1338,036,995 - 38,061,433 (+)EnsemblGRCm38mm10GRCm38
MGSCv371338,129,164 - 38,153,298 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361338,044,761 - 38,068,895 (+)NCBIMGSCv36mm8
Celera1339,158,901 - 39,183,035 (+)NCBICelera
Cytogenetic Map13A3.3NCBI
cM Map1317.91NCBI
Riok1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81726,972,490 - 26,995,382 (-)NCBIGRCr8
mRatBN7.21726,767,440 - 26,789,900 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1726,766,947 - 26,789,900 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1726,625,704 - 26,648,085 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01728,229,279 - 28,251,660 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01726,574,280 - 26,596,752 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01727,429,421 - 27,452,353 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1727,429,416 - 27,452,314 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01729,343,651 - 29,366,586 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41732,994,399 - 33,016,782 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11732,997,139 - 33,019,623 (-)NCBI
Celera1726,399,242 - 26,421,626 (-)NCBICelera
Cytogenetic Map17p12NCBI
Riok1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554656,487,078 - 6,506,108 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554656,487,078 - 6,506,108 (-)NCBIChiLan1.0ChiLan1.0
RIOK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2522,030,744 - 22,059,382 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1618,027,710 - 18,056,344 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v067,229,161 - 7,257,414 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.167,496,461 - 7,524,216 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl67,496,983 - 7,523,623 (+)Ensemblpanpan1.1panPan2
RIOK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1357,355,484 - 7,383,537 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl357,355,295 - 7,379,307 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha357,358,754 - 7,386,795 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0357,437,193 - 7,465,241 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl357,436,976 - 7,462,451 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1357,290,356 - 7,318,391 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0357,317,248 - 7,341,446 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0358,649,621 - 8,677,371 (+)NCBIUU_Cfam_GSD_1.0
Riok1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494616,915,322 - 16,951,809 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365345,190,409 - 5,220,339 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365345,184,313 - 5,220,565 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RIOK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl74,750,752 - 4,782,448 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.174,750,766 - 4,776,678 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.274,858,011 - 4,882,358 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RIOK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11764,776,613 - 64,804,989 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1764,776,629 - 64,805,280 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660447,346,177 - 7,375,562 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Riok1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475618,159,353 - 18,185,758 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475618,159,985 - 18,185,995 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RIOK1
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3 copy number gain See cases [RCV000051896] Chr6:389423..13474956 [GRCh38]
Chr6:389423..13475188 [GRCh37]
Chr6:334423..13583167 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3 copy number gain See cases [RCV000051869] Chr6:106431..18360595 [GRCh38]
Chr6:106431..18360826 [GRCh37]
Chr6:51431..18468805 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1 copy number loss See cases [RCV000052165] Chr6:165675..9036034 [GRCh38]
Chr6:165675..9036267 [GRCh37]
Chr6:110675..8981266 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1 copy number loss See cases [RCV000052177] Chr6:4427090..8391140 [GRCh38]
Chr6:4427324..8391373 [GRCh37]
Chr6:4372323..8336372 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
GRCh38/hg38 6p25.1-24.3(chr6:5925989-8749319)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052178]|See cases [RCV000052178] Chr6:5925989..8749319 [GRCh38]
Chr6:5926222..8749552 [GRCh37]
Chr6:5871221..8694551 [NCBI36]
Chr6:6p25.1-24.3		 pathogenic
NM_031480.2(RIOK1):c.1167C>T (p.Ser389=) single nucleotide variant Malignant melanoma [RCV000061474] Chr6:7405319 [GRCh38]
Chr6:7405552 [GRCh37]
Chr6:7350551 [NCBI36]
Chr6:6p24.3		 not provided
GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3 copy number gain See cases [RCV000134022] Chr6:164360..13339881 [GRCh38]
Chr6:164360..13340113 [GRCh37]
Chr6:109360..13448092 [NCBI36]
Chr6:6p25.3-24.1		 pathogenic
GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3 copy number gain See cases [RCV000136567] Chr6:163083..9525496 [GRCh38]
Chr6:163083..9525729 [GRCh37]
Chr6:108083..9633715 [NCBI36]
Chr6:6p25.3-24.3		 pathogenic
GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1 copy number loss See cases [RCV000136132] Chr6:4068792..13267799 [GRCh38]
Chr6:4069026..13268031 [GRCh37]
Chr6:4014025..13376010 [NCBI36]
Chr6:6p25.2-24.1		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:152634-15732163)x3 copy number gain See cases [RCV000138121] Chr6:152634..15732163 [GRCh38]
Chr6:152634..15732394 [GRCh37]
Chr6:97634..15840373 [NCBI36]
Chr6:6p25.3-22.3		 likely benign
GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3 copy number gain See cases [RCV000138956] Chr6:3224310..30657190 [GRCh38]
Chr6:3224544..30624967 [GRCh37]
Chr6:3169543..30732946 [NCBI36]
Chr6:6p25.2-21.33		 pathogenic
GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3 copy number gain See cases [RCV000140307] Chr6:155807..17058414 [GRCh38]
Chr6:155807..17058645 [GRCh37]
Chr6:100807..17166624 [NCBI36]
Chr6:6p25.3-22.3		 pathogenic
GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3 copy number gain See cases [RCV000142295] Chr6:156974..11550817 [GRCh38]
Chr6:156974..11551050 [GRCh37]
Chr6:101974..11659036 [NCBI36]
Chr6:6p25.3-24.2		 likely pathogenic
GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1 copy number loss See cases [RCV000142435] Chr6:2862640..16697788 [GRCh38]
Chr6:2862874..16698019 [GRCh37]
Chr6:2807873..16805998 [NCBI36]
Chr6:6p25.2-22.3		 pathogenic
GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3 copy number gain See cases [RCV000143334] Chr6:152634..14417003 [GRCh38]
Chr6:152634..14417234 [GRCh37]
Chr6:97634..14525213 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3 copy number gain See cases [RCV000143698] Chr6:156974..13081201 [GRCh38]
Chr6:156974..13081433 [GRCh37]
Chr6:101974..13189419 [NCBI36]
Chr6:6p25.3-24.1		 likely pathogenic
GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1 copy number loss See cases [RCV000143782] Chr6:156974..13855925 [GRCh38]
Chr6:156974..13856156 [GRCh37]
Chr6:101974..13964135 [NCBI36]
Chr6:6p25.3-23		 pathogenic
GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 copy number gain See cases [RCV000143497] Chr6:156974..46789291 [GRCh38]
Chr6:156974..46757028 [GRCh37]
Chr6:101974..46864987 [NCBI36]
Chr6:6p25.3-12.3		 pathogenic
GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1 copy number loss See cases [RCV000240433] Chr6:204009..11608587 [GRCh37]
Chr6:6p25.3-24.1		 pathogenic
GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1 copy number loss See cases [RCV000240576] Chr6:5354402..17950079 [GRCh37]
Chr6:6p25.1-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:302272-18375047)x3 copy number gain See cases [RCV000446145] Chr6:302272..18375047 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:156974-8349511)x3 copy number gain See cases [RCV000445742] Chr6:156974..8349511 [GRCh37]
Chr6:6p25.3-24.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3 copy number gain See cases [RCV000511519] Chr6:7229084..7904034 [GRCh37]
Chr6:6p24.3		 likely benign
GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3 copy number gain not provided [RCV000682628] Chr6:156974..13502033 [GRCh37]
Chr6:6p25.3-23		 pathogenic
GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3 copy number gain not provided [RCV000682633] Chr6:1860928..8884071 [GRCh37]
Chr6:6p25.3-24.3		 likely pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1 copy number loss not provided [RCV000682638] Chr6:4990661..10358695 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1 copy number loss not provided [RCV000682643] Chr6:6990611..11276452 [GRCh37]
Chr6:6p25.1-24.2		 pathogenic
GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3 copy number gain not provided [RCV000682629] Chr6:156974..21955964 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
Single allele duplication not provided [RCV000677944] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6959468-7476908)x3 copy number gain not provided [RCV000745450] Chr6:6959468..7476908 [GRCh37]
Chr6:6p25.1-24.3		 benign
NM_031480.3(RIOK1):c.22A>G (p.Met8Val) single nucleotide variant Inborn genetic diseases [RCV003311055] Chr6:7390024 [GRCh38]
Chr6:7390257 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3 copy number gain not provided [RCV000849173] Chr6:6846861..7759131 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3 copy number gain not provided [RCV000848108] Chr6:156974..23221621 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6864042-7437958)x3 copy number gain not provided [RCV000846658] Chr6:6864042..7437958 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1 copy number loss not provided [RCV001005768] Chr6:5997521..8570039 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3 copy number gain not provided [RCV001005769] Chr6:6664656..7593975 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3 copy number gain not provided [RCV001259377] Chr6:6495789..8070987 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6874846-7396438)x3 copy number gain not provided [RCV001258901] Chr6:6874846..7396438 [GRCh37]
Chr6:6p25.1-24.3		 uncertain significance
GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3 copy number gain See cases [RCV002287574] Chr6:6854908..7465142 [GRCh37]
Chr6:6p25.1-24.3		 pathogenic
NM_031480.3(RIOK1):c.1609A>G (p.Met537Val) single nucleotide variant Inborn genetic diseases [RCV002993119] Chr6:7417343 [GRCh38]
Chr6:7417576 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1633A>G (p.Lys545Glu) single nucleotide variant Inborn genetic diseases [RCV002860231] Chr6:7417367 [GRCh38]
Chr6:7417600 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1691C>G (p.Thr564Arg) single nucleotide variant Inborn genetic diseases [RCV002859979] Chr6:7417425 [GRCh38]
Chr6:7417658 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1441A>C (p.Lys481Gln) single nucleotide variant Inborn genetic diseases [RCV002906291] Chr6:7412940 [GRCh38]
Chr6:7413173 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.238G>T (p.Ala80Ser) single nucleotide variant Inborn genetic diseases [RCV002883710] Chr6:7393265 [GRCh38]
Chr6:7393498 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1068C>G (p.Phe356Leu) single nucleotide variant Inborn genetic diseases [RCV002683003] Chr6:7404993 [GRCh38]
Chr6:7405226 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3 copy number gain See cases [RCV002509885] Chr6:820000..21700000 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_031480.3(RIOK1):c.1105A>G (p.Met369Val) single nucleotide variant Inborn genetic diseases [RCV002884169] Chr6:7405257 [GRCh38]
Chr6:7405490 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.449A>G (p.Lys150Arg) single nucleotide variant Inborn genetic diseases [RCV002888922] Chr6:7398709 [GRCh38]
Chr6:7398942 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.216G>C (p.Trp72Cys) single nucleotide variant Inborn genetic diseases [RCV002737768] Chr6:7393243 [GRCh38]
Chr6:7393476 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1093A>G (p.Asn365Asp) single nucleotide variant Inborn genetic diseases [RCV002704434] Chr6:7405018 [GRCh38]
Chr6:7405251 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.758A>G (p.Asn253Ser) single nucleotide variant Inborn genetic diseases [RCV002802329] Chr6:7402888 [GRCh38]
Chr6:7403121 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1319A>T (p.Tyr440Phe) single nucleotide variant Inborn genetic diseases [RCV003004784] Chr6:7411381 [GRCh38]
Chr6:7411614 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1489G>A (p.Asp497Asn) single nucleotide variant Inborn genetic diseases [RCV002786950] Chr6:7414283 [GRCh38]
Chr6:7414516 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.185G>A (p.Gly62Asp) single nucleotide variant Inborn genetic diseases [RCV002891387] Chr6:7393212 [GRCh38]
Chr6:7393445 [GRCh37]
Chr6:6p24.3		 likely benign
NM_031480.3(RIOK1):c.521T>C (p.Leu174Ser) single nucleotide variant Inborn genetic diseases [RCV002807948] Chr6:7400998 [GRCh38]
Chr6:7401231 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1586T>C (p.Ile529Thr) single nucleotide variant Inborn genetic diseases [RCV002965732] Chr6:7414380 [GRCh38]
Chr6:7414613 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1658A>G (p.His553Arg) single nucleotide variant Inborn genetic diseases [RCV002988079] Chr6:7417392 [GRCh38]
Chr6:7417625 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.445A>G (p.Ile149Val) single nucleotide variant Inborn genetic diseases [RCV002677933] Chr6:7398705 [GRCh38]
Chr6:7398938 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1361A>T (p.Asp454Val) single nucleotide variant Inborn genetic diseases [RCV003205239] Chr6:7411423 [GRCh38]
Chr6:7411656 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1133T>C (p.Val378Ala) single nucleotide variant Inborn genetic diseases [RCV003174421] Chr6:7405285 [GRCh38]
Chr6:7405518 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.1333G>A (p.Asp445Asn) single nucleotide variant Inborn genetic diseases [RCV003259890] Chr6:7411395 [GRCh38]
Chr6:7411628 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.364T>A (p.Leu122Ile) single nucleotide variant Inborn genetic diseases [RCV003179333] Chr6:7395140 [GRCh38]
Chr6:7395373 [GRCh37]
Chr6:6p24.3		 uncertain significance
NM_031480.3(RIOK1):c.820G>A (p.Val274Ile) single nucleotide variant Inborn genetic diseases [RCV003362422] Chr6:7403993 [GRCh38]
Chr6:7404226 [GRCh37]
Chr6:6p24.3		 uncertain significance
GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3 copy number gain not provided [RCV003484635] Chr6:156975..15478095 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
NM_031480.3(RIOK1):c.115C>T (p.Leu39=) single nucleotide variant not provided [RCV003436478] Chr6:7393142 [GRCh38]
Chr6:7393375 [GRCh37]
Chr6:6p24.3		 likely benign
NM_031480.3(RIOK1):c.1575G>C (p.Thr525=) single nucleotide variant not provided [RCV003436479] Chr6:7414369 [GRCh38]
Chr6:7414602 [GRCh37]
Chr6:6p24.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:574
Count of miRNA genes:435
Interacting mature miRNAs:463
Transcripts:ENST00000264874, ENST00000379834, ENST00000475351, ENST00000484626, ENST00000493691
Prediction methods:Microtar, 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
D6S1640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,409,390 - 7,409,651UniSTSGRCh37
Build 3667,354,389 - 7,354,650RGDNCBI36
Celera68,639,136 - 8,639,393RGD
Cytogenetic Map6p24.3UniSTS
HuRef67,286,497 - 7,286,754UniSTS
Marshfield Genetic Map611.89RGD
Marshfield Genetic Map611.89UniSTS
Genethon Genetic Map611.4UniSTS
TNG Radiation Hybrid Map64349.0UniSTS
deCODE Assembly Map618.73UniSTS
Stanford-G3 RH Map6186.0UniSTS
GeneMap99-GB4 RH Map637.94UniSTS
Whitehead-YAC Contig Map6 UniSTS
GeneMap99-G3 RH Map6186.0UniSTS
RH102574  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3767,418,028 - 7,418,156UniSTSGRCh37
Build 3667,363,027 - 7,363,155RGDNCBI36
Celera68,647,771 - 8,647,899RGD
Cytogenetic Map6p24.3UniSTS
HuRef67,295,134 - 7,295,262UniSTS
GeneMap99-GB4 RH Map640.68UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2109 1570 1323 269 1203 138 4031 1422 1745 226 1416 1588 145 1200 2467 3
Low 330 1417 403 355 744 327 326 775 1989 193 44 25 30 1 4 321 3 2
Below cutoff 4 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000264874
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,396,752 - 7,418,037 (+)Ensembl
RefSeq Acc Id: ENST00000379834   ⟹   ENSP00000369162
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,389,808 - 7,418,037 (+)Ensembl
RefSeq Acc Id: ENST00000475351   ⟹   ENSP00000418263
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,389,793 - 7,402,848 (+)Ensembl
RefSeq Acc Id: ENST00000484626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,403,934 - 7,405,184 (+)Ensembl
RefSeq Acc Id: ENST00000493691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl67,410,378 - 7,411,567 (+)Ensembl
RefSeq Acc Id: NM_001348194   ⟹   NP_001335123
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,808 - 7,418,037 (+)NCBI
T2T-CHM13v2.067,258,847 - 7,287,080 (+)NCBI
Sequence:
RefSeq Acc Id: NM_031480   ⟹   NP_113668
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,808 - 7,418,037 (+)NCBI
GRCh3767,390,062 - 7,418,270 (+)RGD
Build 3667,335,061 - 7,363,269 (+)NCBI Archive
Celera68,619,806 - 8,648,013 (+)RGD
HuRef67,267,167 - 7,295,376 (+)RGD
CHM1_167,392,173 - 7,420,383 (+)NCBI
T2T-CHM13v2.067,258,847 - 7,287,080 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514933   ⟹   XP_011513235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,392,722 - 7,418,037 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054356511   ⟹   XP_054212486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.067,261,759 - 7,287,080 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_113668   ⟸   NM_031480
- Peptide Label: isoform 1
- UniProtKB: Q8NDC8 (UniProtKB/Swiss-Prot),   B2RB28 (UniProtKB/Swiss-Prot),   Q96NV9 (UniProtKB/Swiss-Prot),   Q9BRS2 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513235   ⟸   XM_011514933
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001335123   ⟸   NM_001348194
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: ENSP00000369162   ⟸   ENST00000379834
RefSeq Acc Id: ENSP00000418263   ⟸   ENST00000475351
RefSeq Acc Id: XP_054212486   ⟸   XM_054356511
- Peptide Label: isoform X1
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BRS2-F1-model_v2 AlphaFold Q9BRS2 1-568 view protein structure

Promoters
RGD ID:6804626
Promoter ID:HG_KWN:52247
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001170692,   NM_001170693,   NM_031480,   NM_205864,   OTTHUMT00000039772,   UC003MXI.1,   UC003MXJ.1,   UC003MXL.1,   UC003MXM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3667,334,706 - 7,335,206 (+)MPROMDB
RGD ID:6871976
Promoter ID:EPDNEW_H9152
Type:initiation region
Name:RIOK1_2
Description:RIO kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9154  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,469 - 7,389,529EPDNEW
RGD ID:6871980
Promoter ID:EPDNEW_H9154
Type:initiation region
Name:RIOK1_1
Description:RIO kinase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9152  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3867,389,810 - 7,389,870EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18656 AgrOrtholog
COSMIC RIOK1 COSMIC
Ensembl Genes ENSG00000124784 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000379834 ENTREZGENE
  ENST00000379834.7 UniProtKB/Swiss-Prot
  ENST00000475351.5 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000124784 GTEx
HGNC ID HGNC:18656 ENTREZGENE
Human Proteome Map RIOK1 Human Proteome Map
InterPro Kinase-like_dom_sf UniProtKB/Swiss-Prot
  RIO_kinase UniProtKB/Swiss-Prot
  RIO_kinase_CS UniProtKB/Swiss-Prot
  Ser/Thr_kinase_Rio1 UniProtKB/Swiss-Prot
KEGG Report hsa:83732 UniProtKB/Swiss-Prot
NCBI Gene 83732 ENTREZGENE
OMIM 617753 OMIM
PANTHER SERINE/THREONINE-PROTEIN KINASE RIO1 UniProtKB/Swiss-Prot
  SERINE/THREONINE-PROTEIN KINASE RIO1 UniProtKB/Swiss-Prot
Pfam RIO1 UniProtKB/Swiss-Prot
PharmGKB PA134928236 PharmGKB
PIRSF Ser/Thr_PK_RIO1 UniProtKB/Swiss-Prot
PROSITE RIO1 UniProtKB/Swiss-Prot
SMART RIO UniProtKB/Swiss-Prot
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot
UniProt B2RB28 ENTREZGENE
  E9PFQ8_HUMAN UniProtKB/TrEMBL
  Q8NDC8 ENTREZGENE
  Q96NV9 ENTREZGENE
  Q9BRS2 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2RB28 UniProtKB/Swiss-Prot
  Q8NDC8 UniProtKB/Swiss-Prot
  Q96NV9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-12-12 RIOK1  RIO kinase 1  RIOK1  RIO kinase 1 (yeast)  Symbol and/or name change 5135510 APPROVED