CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1) - Rat Genome Database

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Gene: CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1) Homo sapiens
Analyze
Symbol: CDKAL1
Name: CDK5 regulatory subunit associated protein 1 like 1
RGD ID: 1321035
HGNC Page HGNC:21050
Description: Predicted to enable N6-threonylcarbomyladenosine methylthiotransferase activity. Predicted to be involved in tRNA methylthiolation. Predicted to act upstream of or within maintenance of translational fidelity. Located in membrane. Implicated in diabetes mellitus; diabetic retinopathy; gestational diabetes; and type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDK5 regulatory subunit associated protein 1-like 1; CDK5 regulatory subunit-associated protein 1-like 1; FLJ20342; FLJ46705; MGC75469; threonylcarbamoyladenosine tRNA methylthiotransferase; tRNA-t(6)A37 methylthiotransferase
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
GRCh38620,534,457 - 21,232,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl620,534,457 - 21,232,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37620,534,688 - 21,232,635 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36620,642,667 - 21,339,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 34620,642,735 - 21,340,611NCBI
Celera621,767,810 - 22,465,949 (+)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef620,478,924 - 21,176,389 (+)NCBIHuRef
CHM1_1620,536,980 - 21,234,732 (+)NCBICHM1_1
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. Cho YM, etal., Diabetologia. 2009 Feb;52(2):253-61. Epub 2008 Nov 11.
2. Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea. Kang ES, etal., Transplantation. 2009 Sep 15;88(5):693-8.
3. Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. Lee YH, etal., J Hum Genet. 2008;53(11-12):991-8. Epub 2008 Nov 11.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes. Peng D, etal., Sci Rep. 2017 Aug 18;7(1):8812. doi: 10.1038/s41598-017-09010-w.
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Takeuchi F, etal., Diabetes. 2009 Jul;58(7):1690-9. Epub 2009 Apr 28.
9. Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Wu Y, etal., Diabetes. 2008 Oct;57(10):2834-42. Epub 2008 Jul 15.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17460697   PMID:17463246   PMID:17463248   PMID:17463249   PMID:17554300   PMID:17804762   PMID:17928989   PMID:17993580   PMID:18162508   PMID:18210030  
PMID:18252897   PMID:18264689   PMID:18285412   PMID:18372903   PMID:18426861   PMID:18437351   PMID:18461161   PMID:18469204   PMID:18477659   PMID:18516622   PMID:18544707   PMID:18587394  
PMID:18591388   PMID:18597214   PMID:18618095   PMID:18694974   PMID:18711366   PMID:18719881   PMID:18753662   PMID:18766326   PMID:18923449   PMID:18984664   PMID:19008344   PMID:19020323  
PMID:19020324   PMID:19033397   PMID:19056611   PMID:19068216   PMID:19082521   PMID:19139842   PMID:19172244   PMID:19174780   PMID:19225753   PMID:19228808   PMID:19247372   PMID:19258404  
PMID:19258437   PMID:19279076   PMID:19322201   PMID:19324937   PMID:19380854   PMID:19422935   PMID:19502414   PMID:19587699   PMID:19592620   PMID:19602701   PMID:19622614   PMID:19718565  
PMID:19720844   PMID:19734900   PMID:19741166   PMID:19760754   PMID:19794065   PMID:19808892   PMID:19862325   PMID:19892838   PMID:19913121   PMID:19933996   PMID:19946888   PMID:20014019  
PMID:20043145   PMID:20075150   PMID:20161779   PMID:20203524   PMID:20215779   PMID:20379614   PMID:20384434   PMID:20424228   PMID:20460429   PMID:20490451   PMID:20503258   PMID:20509872  
PMID:20550665   PMID:20568056   PMID:20580033   PMID:20581827   PMID:20584901   PMID:20587610   PMID:20616309   PMID:20628086   PMID:20712903   PMID:20802253   PMID:20816152   PMID:20847106  
PMID:20879858   PMID:20886065   PMID:20889853   PMID:20929593   PMID:21072187   PMID:21102463   PMID:21139019   PMID:21368910   PMID:21416855   PMID:21490949   PMID:21611789   PMID:21643948  
PMID:21873635   PMID:21908934   PMID:22096510   PMID:22119613   PMID:22233651   PMID:22290723   PMID:22344219   PMID:22344221   PMID:22412018   PMID:22437209   PMID:22443257   PMID:22487833  
PMID:22504420   PMID:22678361   PMID:22678362   PMID:22693455   PMID:22810586   PMID:22923468   PMID:22961080   PMID:23048041   PMID:23128233   PMID:23173044   PMID:23202124   PMID:23251661  
PMID:23575436   PMID:23670970   PMID:23840313   PMID:23891004   PMID:23945395   PMID:24012816   PMID:24013783   PMID:24112421   PMID:24163127   PMID:24185407   PMID:24457600   PMID:24509480  
PMID:24636221   PMID:24647736   PMID:24695378   PMID:24760768   PMID:24861553   PMID:24898818   PMID:25187374   PMID:25222615   PMID:25370040   PMID:25416956   PMID:25483131   PMID:25634229  
PMID:25723968   PMID:25785549   PMID:25961023   PMID:26119585   PMID:26168825   PMID:26389662   PMID:26496610   PMID:26563541   PMID:26638075   PMID:26830138   PMID:26873362   PMID:26972000  
PMID:27049325   PMID:27375898   PMID:27377502   PMID:27936930   PMID:28380382   PMID:28406950   PMID:28502787   PMID:28514442   PMID:28538172   PMID:28675297   PMID:28692057   PMID:29053956  
PMID:29372795   PMID:29395067   PMID:29403086   PMID:29509190   PMID:29544538   PMID:29568061   PMID:29674289   PMID:29933462   PMID:30185902   PMID:30194290   PMID:30207601   PMID:30350806  
PMID:30463901   PMID:30585266   PMID:30804502   PMID:30833792   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31098383   PMID:31177093   PMID:31189758   PMID:31391242   PMID:31639799  
PMID:31732153   PMID:31753913   PMID:31871319   PMID:32149426   PMID:32228543   PMID:32344865   PMID:32614325   PMID:32707033   PMID:32764395   PMID:32791750   PMID:32807901   PMID:32814053  
PMID:32877691   PMID:32994395   PMID:33144569   PMID:33263384   PMID:33269568   PMID:33558148   PMID:33641658   PMID:33856697   PMID:33957083   PMID:33961781   PMID:34011540   PMID:34079125  
PMID:34169461   PMID:34192303   PMID:34369648   PMID:34432599   PMID:34597346   PMID:34672954   PMID:34702444   PMID:34709727   PMID:34721291   PMID:34872638   PMID:34977253   PMID:35130687  
PMID:35271311   PMID:35360068   PMID:35384245   PMID:35439318   PMID:35509820   PMID:35563538   PMID:35696571   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36301463   PMID:36610398  
PMID:36628934   PMID:36629882   PMID:36786012   PMID:37055162   PMID:37232246   PMID:37245423   PMID:37308106   PMID:37628646   PMID:37689310   PMID:37774976   PMID:37827155   PMID:37931956  
PMID:38237400  


Genomics

Comparative Map Data
CDKAL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38620,534,457 - 21,232,404 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl620,534,457 - 21,232,404 (+)EnsemblGRCh38hg38GRCh38
GRCh37620,534,688 - 21,232,635 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36620,642,667 - 21,339,743 (+)NCBINCBI36Build 36hg18NCBI36
Build 34620,642,735 - 21,340,611NCBI
Celera621,767,810 - 22,465,949 (+)NCBICelera
Cytogenetic Map6p22.3NCBI
HuRef620,478,924 - 21,176,389 (+)NCBIHuRef
CHM1_1620,536,980 - 21,234,732 (+)NCBICHM1_1
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)NCBIT2T-CHM13v2.0
Cdkal1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391329,375,729 - 30,039,665 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1329,375,729 - 30,039,657 (-)EnsemblGRCm39 Ensembl
GRCm381329,191,746 - 29,855,683 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1329,191,746 - 29,855,674 (-)EnsemblGRCm38mm10GRCm38
MGSCv371329,417,175 - 29,947,457 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361329,332,771 - 29,863,053 (-)NCBIMGSCv36mm8
Celera1329,544,145 - 30,074,351 (-)NCBICelera
Cytogenetic Map13A3.1- A3.2NCBI
cM Map1312.93NCBI
Cdkal1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81734,927,221 - 35,479,827 (+)NCBIGRCr8
mRatBN7.21734,718,701 - 35,271,276 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1734,718,687 - 35,407,524 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1734,538,315 - 35,091,371 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01736,142,191 - 36,695,255 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01734,534,125 - 35,088,307 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01736,451,031 - 37,157,882 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1736,451,058 - 37,295,069 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01737,759,260 - 37,935,320 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01738,780,937 - 39,026,953 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41741,208,037 - 41,259,863 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11741,211,591 - 42,031,602 (+)NCBI
Celera1734,245,172 - 34,795,596 (+)NCBICelera
Cytogenetic Map17p12NCBI
Cdkal1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554835,398,687 - 5,993,079 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554835,398,748 - 5,993,071 (-)NCBIChiLan1.0ChiLan1.0
CDKAL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2535,169,090 - 35,873,476 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1631,168,553 - 31,872,949 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0620,357,897 - 21,064,873 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1620,705,442 - 21,406,933 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl620,717,011 - 21,405,566 (+)Ensemblpanpan1.1panPan2
CDKAL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13519,138,904 - 19,802,545 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3519,138,918 - 19,929,429 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3519,097,701 - 19,733,284 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03519,243,019 - 19,912,717 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3519,243,048 - 19,884,903 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13519,051,408 - 19,686,702 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03519,116,398 - 19,751,523 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03520,535,347 - 21,171,070 (+)NCBIUU_Cfam_GSD_1.0
Cdkal1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049465,340,519 - 5,897,800 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365525,833,409 - 6,347,017 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365525,903,042 - 6,347,498 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDKAL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl715,910,666 - 16,626,276 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1715,910,645 - 16,569,643 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2716,819,882 - 17,480,999 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CDKAL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11750,970,764 - 51,673,551 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1750,970,678 - 51,673,579 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604420,828,038 - 21,550,997 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdkal1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247565,498,557 - 6,143,184 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDKAL1
90 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_017774.3(CDKAL1):c.371+11426A>C single nucleotide variant Type 2 diabetes mellitus [RCV000001037] Chr6:20660803 [GRCh38]
Chr6:20661034 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.371+30101A>G single nucleotide variant Type 2 diabetes mellitus [RCV000001038] Chr6:20679478 [GRCh38]
Chr6:20679709 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.909+11376A>G single nucleotide variant Lung cancer [RCV000096735] Chr6:20966961 [GRCh38]
Chr6:20967192 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1056-20480C>A single nucleotide variant Lung cancer [RCV000096736] Chr6:21044568 [GRCh38]
Chr6:21044799 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh38/hg38 6p24.1-22.3(chr6:13093117-22126024)x3 copy number gain See cases [RCV000051897] Chr6:13093117..22126024 [GRCh38]
Chr6:13093349..22126253 [GRCh37]
Chr6:13201335..22234232 [NCBI36]
Chr6:6p24.1-22.3		 pathogenic
GRCh38/hg38 6p22.3-21.33(chr6:18120520-30767516)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052180]|See cases [RCV000052180] Chr6:18120520..30767516 [GRCh38]
Chr6:18120751..30735293 [GRCh37]
Chr6:18228730..30843272 [NCBI36]
Chr6:6p22.3-21.33		 pathogenic
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 6p25.3-12.3(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 6p25.3-22.3(chr6:168775-24023234)x3 copy number gain See cases [RCV000240460] Chr6:168775..24023234 [GRCh37]
Chr6:6p25.3-22.3		 pathogenic
GRCh37/hg19 6p22.3(chr6:20884837-21082258) copy number loss Abnormal esophagus morphology [RCV000416619] Chr6:20884837..21082258 [GRCh37]
Chr6:6p22.3		 likely 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 6p23-22.3(chr6:13693852-24225515)x1 copy number loss See cases [RCV000512269] Chr6:13693852..24225515 [GRCh37]
Chr6:6p23-22.3		 pathogenic
GRCh37/hg19 6p22.3(chr6:20798523-21040408)x3 copy number gain not provided [RCV000682653] Chr6:20798523..21040408 [GRCh37]
Chr6:6p22.3		 uncertain significance
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
GRCh37/hg19 6p22.3(chr6:20460699-20864269)x3 copy number gain not provided [RCV000682652] Chr6:20460699..20864269 [GRCh37]
Chr6:6p22.3		 uncertain significance
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 6p22.3(chr6:20621155-20623394)x0 copy number loss not provided [RCV000745518] Chr6:20621155..20623394 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:20622753-20623394)x0 copy number loss not provided [RCV000745519] Chr6:20622753..20623394 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:20622926-20623394)x1 copy number loss not provided [RCV000745520] Chr6:20622926..20623394 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:20713706-20829772)x1 copy number loss not provided [RCV000745521] Chr6:20713706..20829772 [GRCh37]
Chr6:6p22.3		 benign
GRCh37/hg19 6p22.3(chr6:20690757-21061177)x1 copy number loss not provided [RCV001005785] Chr6:20690757..21061177 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1549-5TA[3] microsatellite not provided [RCV000937861] Chr6:21230842..21230843 [GRCh38]
Chr6:21231073..21231074 [GRCh37]
Chr6:6p22.3		 likely benign
NM_017774.3(CDKAL1):c.1355A>T (p.Tyr452Phe) single nucleotide variant not provided [RCV000887785] Chr6:21198076 [GRCh38]
Chr6:21198307 [GRCh37]
Chr6:6p22.3		 likely benign
GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1 copy number loss not provided [RCV000848884] Chr6:13910125..22000204 [GRCh37]
Chr6:6p23-22.3		 pathogenic
GRCh37/hg19 6p22.3(chr6:21010811-21145207)x1 copy number loss not provided [RCV001005786] Chr6:21010811..21145207 [GRCh37]
Chr6:6p22.3		 likely benign
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
NM_017774.3(CDKAL1):c.591G>A (p.Pro197=) single nucleotide variant not provided [RCV000903749] Chr6:20781218 [GRCh38]
Chr6:20781449 [GRCh37]
Chr6:6p22.3		 benign
NM_017774.3(CDKAL1):c.116G>A (p.Arg39Gln) single nucleotide variant not provided [RCV000953224] Chr6:20546466 [GRCh38]
Chr6:20546697 [GRCh37]
Chr6:6p22.3		 likely benign
NM_017774.3(CDKAL1):c.1549-4A>G single nucleotide variant not provided [RCV000888593] Chr6:21230844 [GRCh38]
Chr6:21231075 [GRCh37]
Chr6:6p22.3		 benign
NM_017774.3(CDKAL1):c.297C>T (p.Ser99=) single nucleotide variant not provided [RCV000956369] Chr6:20649303 [GRCh38]
Chr6:20649534 [GRCh37]
Chr6:6p22.3		 benign
NM_017774.3(CDKAL1):c.1692G>A (p.Leu564=) single nucleotide variant not provided [RCV000956370] Chr6:21230991 [GRCh38]
Chr6:21231222 [GRCh37]
Chr6:6p22.3		 benign
NM_017774.3(CDKAL1):c.371+11642G>C single nucleotide variant Obesity [RCV001002802] Chr6:20661019 [GRCh38]
Chr6:20661250 [GRCh37]
Chr6:6p22.3		 risk factor
GRCh37/hg19 6p22.3(chr6:20688779-20778737)x1 copy number loss not provided [RCV001005784] Chr6:20688779..20778737 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20488753-20882544)x3 copy number gain not provided [RCV001005783] Chr6:20488753..20882544 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:21061217-21312467)x3 copy number gain not provided [RCV001258884] Chr6:21061217..21312467 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20569828-20789174)x1 copy number loss not provided [RCV001258885] Chr6:20569828..20789174 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20725304-21039951)x1 copy number loss not provided [RCV001258887] Chr6:20725304..21039951 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20862458-21061345)x1 copy number loss not provided [RCV001258889] Chr6:20862458..21061345 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20640280-20943724)x1 copy number loss not provided [RCV001827754] Chr6:20640280..20943724 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p22.3(chr6:20688779-20777106) copy number loss not specified [RCV002053560] Chr6:20688779..20777106 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.767C>A (p.Thr256Asn) single nucleotide variant Inborn genetic diseases [RCV002906668] Chr6:20955443 [GRCh38]
Chr6:20955674 [GRCh37]
Chr6:6p22.3		 uncertain significance
GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1 copy number loss not provided [RCV002475759] Chr6:12005630..22849647 [GRCh37]
Chr6:6p24.1-22.3		 pathogenic
NM_017774.3(CDKAL1):c.1423G>A (p.Val475Ile) single nucleotide variant Inborn genetic diseases [RCV002732316] Chr6:21201149 [GRCh38]
Chr6:21201380 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1410C>A (p.Phe470Leu) single nucleotide variant Inborn genetic diseases [RCV002781633] Chr6:21201136 [GRCh38]
Chr6:21201367 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1201C>T (p.Pro401Ser) single nucleotide variant Inborn genetic diseases [RCV002887059] Chr6:21065193 [GRCh38]
Chr6:21065424 [GRCh37]
Chr6:6p22.3		 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_017774.3(CDKAL1):c.1103G>A (p.Gly368Glu) single nucleotide variant Inborn genetic diseases [RCV002758987] Chr6:21065095 [GRCh38]
Chr6:21065326 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1684G>A (p.Val562Met) single nucleotide variant Inborn genetic diseases [RCV002764865] Chr6:21230983 [GRCh38]
Chr6:21231214 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.227A>G (p.Asn76Ser) single nucleotide variant Inborn genetic diseases [RCV002666371] Chr6:20548646 [GRCh38]
Chr6:20548877 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.214G>T (p.Gly72Cys) single nucleotide variant Inborn genetic diseases [RCV002915444] Chr6:20548633 [GRCh38]
Chr6:20548864 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.96G>C (p.Lys32Asn) single nucleotide variant Inborn genetic diseases [RCV002826386] Chr6:20546446 [GRCh38]
Chr6:20546677 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1611G>T (p.Gln537His) single nucleotide variant Inborn genetic diseases [RCV002855711] Chr6:21230910 [GRCh38]
Chr6:21231141 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.484C>A (p.Arg162Ser) single nucleotide variant Inborn genetic diseases [RCV002897894] Chr6:20758610 [GRCh38]
Chr6:20758841 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.382G>A (p.Glu128Lys) single nucleotide variant Inborn genetic diseases [RCV003180274] Chr6:20739529 [GRCh38]
Chr6:20739760 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1411A>C (p.Met471Leu) single nucleotide variant Inborn genetic diseases [RCV003179435] Chr6:21201137 [GRCh38]
Chr6:21201368 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.455T>A (p.Leu152Gln) single nucleotide variant Inborn genetic diseases [RCV003197367] Chr6:20739602 [GRCh38]
Chr6:20739833 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1241del (p.Lys414fs) deletion Type 2 diabetes mellitus [RCV003331560] Chr6:21108401 [GRCh38]
Chr6:21108632 [GRCh37]
Chr6:6p22.3		 not provided
NM_017774.3(CDKAL1):c.595A>G (p.Ile199Val) single nucleotide variant Inborn genetic diseases [RCV003347818] Chr6:20781222 [GRCh38]
Chr6:20781453 [GRCh37]
Chr6:6p22.3		 uncertain significance
NM_017774.3(CDKAL1):c.1670C>T (p.Ala557Val) single nucleotide variant Inborn genetic diseases [RCV003374078] Chr6:21230969 [GRCh38]
Chr6:21231200 [GRCh37]
Chr6:6p22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2582
Count of miRNA genes:578
Interacting mature miRNAs:627
Transcripts:ENST00000274695, ENST00000378610, ENST00000378624, ENST00000476517
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D6S1665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,988,305 - 20,988,514UniSTSGRCh37
Build 36621,096,284 - 21,096,493RGDNCBI36
Celera622,221,620 - 22,221,837RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,932,701 - 20,932,918UniSTS
Marshfield Genetic Map636.37UniSTS
Marshfield Genetic Map636.37RGD
Genethon Genetic Map636.4UniSTS
TNG Radiation Hybrid Map611625.0UniSTS
deCODE Assembly Map643.14UniSTS
Stanford-G3 RH Map61000.0UniSTS
GeneMap99-GB4 RH Map688.36UniSTS
NCBI RH Map6271.3UniSTS
GeneMap99-G3 RH Map61132.0UniSTS
G17034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,973,584 - 20,973,690UniSTSGRCh37
Build 36621,081,563 - 21,081,669RGDNCBI36
Celera622,206,899 - 22,207,005RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,917,986 - 20,918,092UniSTS
STS-W86387  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,861,211 - 20,861,443UniSTSGRCh37
Build 36620,969,190 - 20,969,422RGDNCBI36
Celera622,094,231 - 22,094,463RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,805,430 - 20,805,662UniSTS
GeneMap99-GB4 RH Map688.36UniSTS
SHGC-34186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,955,951 - 20,956,076UniSTSGRCh37
Build 36621,063,930 - 21,064,055RGDNCBI36
Celera622,189,267 - 22,189,392RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,900,353 - 20,900,478UniSTS
TNG Radiation Hybrid Map611646.0UniSTS
GeneMap99-GB4 RH Map684.86UniSTS
GeneMap99-GB4 RH Map688.36UniSTS
Whitehead-RH Map6118.5UniSTS
GeneMap99-G3 RH Map61132.0UniSTS
AL022505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,648,701 - 20,648,862UniSTSGRCh37
Build 36620,756,680 - 20,756,841RGDNCBI36
Celera621,881,813 - 21,881,974RGD
Cytogenetic Map6p22.3UniSTS
SHGC-79876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,666,125 - 20,666,466UniSTSGRCh37
Build 36620,774,104 - 20,774,445RGDNCBI36
Celera621,899,246 - 21,899,587RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,610,144 - 20,610,485UniSTS
TNG Radiation Hybrid Map611401.0UniSTS
SHGC-79428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,620,065 - 20,620,388UniSTSGRCh37
Build 36620,728,044 - 20,728,367RGDNCBI36
Celera621,853,183 - 21,853,506RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,564,171 - 20,564,494UniSTS
TNG Radiation Hybrid Map611427.0UniSTS
RH120426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,076,747 - 21,077,059UniSTSGRCh37
Build 36621,184,726 - 21,185,038RGDNCBI36
Celera622,310,081 - 22,310,393RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,020,856 - 21,021,168UniSTS
TNG Radiation Hybrid Map611688.0UniSTS
RH120822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,655,212 - 20,655,523UniSTSGRCh37
Build 36620,763,191 - 20,763,502RGDNCBI36
Celera621,888,324 - 21,888,635RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,599,221 - 20,599,532UniSTS
TNG Radiation Hybrid Map611407.0UniSTS
RH121472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,033,517 - 21,033,843UniSTSGRCh37
Build 36621,141,496 - 21,141,822RGDNCBI36
Celera622,266,836 - 22,267,162RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,977,652 - 20,977,978UniSTS
TNG Radiation Hybrid Map611675.0UniSTS
RH119731  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,133,157 - 21,133,501UniSTSGRCh37
Build 36621,241,136 - 21,241,480RGDNCBI36
Celera622,366,464 - 22,366,808RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,077,205 - 21,077,549UniSTS
TNG Radiation Hybrid Map611725.0UniSTS
SHGC-110580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,101,512 - 21,101,853UniSTSGRCh37
Build 36621,209,491 - 21,209,832RGDNCBI36
Celera622,334,823 - 22,335,164RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,045,603 - 21,045,944UniSTS
TNG Radiation Hybrid Map611705.0UniSTS
SHGC-144125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,624,547 - 20,624,830UniSTSGRCh37
Build 36620,732,526 - 20,732,809RGDNCBI36
Celera621,857,666 - 21,857,949RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,568,654 - 20,568,937UniSTS
TNG Radiation Hybrid Map611420.0UniSTS
SHGC-112097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,101,424 - 21,101,725UniSTSGRCh37
Build 36621,209,403 - 21,209,704RGDNCBI36
Celera622,334,735 - 22,335,036RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,045,515 - 21,045,816UniSTS
TNG Radiation Hybrid Map611705.0UniSTS
G67596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,086,034 - 21,086,142UniSTSGRCh37
Build 36621,194,013 - 21,194,121RGDNCBI36
Celera622,319,382 - 22,319,490RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,030,160 - 21,030,268UniSTS
G67593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,776,499 - 20,776,709UniSTSGRCh37
Build 36620,884,478 - 20,884,688RGDNCBI36
Celera622,009,556 - 22,009,766RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,720,158 - 20,720,368UniSTS
G67594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,902,991 - 20,903,132UniSTSGRCh37
Build 36621,010,970 - 21,011,111RGDNCBI36
Celera622,136,307 - 22,136,448RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,847,427 - 20,847,568UniSTS
G67595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,085,681 - 21,085,839UniSTSGRCh37
Build 36621,193,660 - 21,193,818RGDNCBI36
Celera622,319,029 - 22,319,187RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,029,807 - 21,029,965UniSTS
JA01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,643,035 - 20,643,236UniSTSGRCh37
Build 36620,751,014 - 20,751,215RGDNCBI36
Celera621,876,153 - 21,876,348RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,587,141 - 20,587,336UniSTS
JA02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,016,810 - 21,016,925UniSTSGRCh37
Build 36621,124,789 - 21,124,904RGDNCBI36
Celera622,250,132 - 22,250,243RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,960,949 - 20,961,060UniSTS
CHLC.GAAT3A06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37621,215,010 - 21,215,188UniSTSGRCh37
Build 36621,322,989 - 21,323,167RGDNCBI36
Celera622,448,321 - 22,448,503RGD
Cytogenetic Map6p22.3UniSTS
HuRef621,158,762 - 21,158,936UniSTS
Marshfield Genetic Map636.37UniSTS
Whitehead-YAC Contig Map6 UniSTS
AL022495  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,759,006 - 20,759,125UniSTSGRCh37
Build 36620,866,985 - 20,867,104RGDNCBI36
Celera621,992,061 - 21,992,180RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,702,986 - 20,703,105UniSTS
STS-T97688  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,861,265 - 20,861,398UniSTSGRCh37
Build 36620,969,244 - 20,969,377RGDNCBI36
Celera622,094,285 - 22,094,418RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,805,484 - 20,805,617UniSTS
GeneMap99-GB4 RH Map688.36UniSTS
NCBI RH Map6272.5UniSTS
D6S1950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37620,617,395 - 20,617,571UniSTSGRCh37
Build 36620,725,374 - 20,725,550RGDNCBI36
Celera621,850,513 - 21,850,689RGD
Cytogenetic Map6p22.3UniSTS
HuRef620,561,505 - 20,561,681UniSTS
Whitehead-RH Map6118.5UniSTS
Whitehead-YAC Contig Map6 UniSTS


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 159 60 192 74 744 76 427 55 195 186 420 403 11 16 113 3
Low 2277 2866 1531 547 1165 387 3928 2122 3510 233 1033 1206 160 1188 2675 2
Below cutoff 1 60 3 1 40 2 18 22 5 2 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024446481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008487360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_926267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK000349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL033521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL451080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC121021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000274695   ⟹   ENSP00000274695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl620,534,457 - 21,232,404 (+)Ensembl
RefSeq Acc Id: ENST00000378610   ⟹   ENSP00000367873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl620,546,341 - 21,232,404 (+)Ensembl
RefSeq Acc Id: ENST00000476517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl621,200,812 - 21,231,441 (+)Ensembl
RefSeq Acc Id: ENST00000613575   ⟹   ENSP00000481755
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl620,534,481 - 20,559,672 (+)Ensembl
RefSeq Acc Id: NM_017774   ⟹   NP_060244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,232,404 (+)NCBI
GRCh37620,534,688 - 21,232,635 (+)ENTREZGENE
GRCh37620,534,688 - 21,232,635 (+)NCBI
Build 36620,642,667 - 21,339,743 (+)NCBI Archive
HuRef620,478,924 - 21,176,389 (+)ENTREZGENE
CHM1_1620,536,980 - 21,234,732 (+)NCBI
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514718   ⟹   XP_011513020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,232,404 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011514719   ⟹   XP_011513021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,135,969 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010986   ⟹   XP_016866475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,165,233 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024446481   ⟹   XP_024302249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,200,589 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047418947   ⟹   XP_047274903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418948   ⟹   XP_047274904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418949   ⟹   XP_047274905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,232,404 (+)NCBI
RefSeq Acc Id: XM_047418950   ⟹   XP_047274906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418951   ⟹   XP_047274907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,581 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418952   ⟹   XP_047274908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,232,404 (+)NCBI
RefSeq Acc Id: XM_047418953   ⟹   XP_047274909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,771,771 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418954   ⟹   XP_047274910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,771,771 - 21,232,404 (+)NCBI
RefSeq Acc Id: XM_047418955   ⟹   XP_047274911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,771,771 - 21,232,404 (+)NCBI
RefSeq Acc Id: XM_047418956   ⟹   XP_047274912
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,799,308 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418957   ⟹   XP_047274913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,951,331 - 21,200,589 (+)NCBI
RefSeq Acc Id: XM_047418958   ⟹   XP_047274914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,457 - 21,000,372 (+)NCBI
RefSeq Acc Id: XM_054355750   ⟹   XP_054211725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)NCBI
RefSeq Acc Id: XM_054355751   ⟹   XP_054211726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)NCBI
RefSeq Acc Id: XM_054355752   ⟹   XP_054211727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,104,535 (+)NCBI
RefSeq Acc Id: XM_054355753   ⟹   XP_054211728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,011,698 (+)NCBI
RefSeq Acc Id: XM_054355754   ⟹   XP_054211729
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,064,085 (+)NCBI
RefSeq Acc Id: XM_054355755   ⟹   XP_054211730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,638,912 - 21,104,535 (+)NCBI
RefSeq Acc Id: XM_054355756   ⟹   XP_054211731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,638,910 - 21,104,535 (+)NCBI
RefSeq Acc Id: XM_054355757   ⟹   XP_054211732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 20,872,480 (+)NCBI
RefSeq Acc Id: XR_008487354
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487355
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487356
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487357
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,474 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487358
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,406,598 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487359
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,638,894 - 21,073,399 (+)NCBI
RefSeq Acc Id: XR_008487360
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0620,823,437 - 21,073,399 (+)NCBI
Protein Sequences
Protein RefSeqs NP_060244 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513020 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513021 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866475 (Get FASTA)   NCBI Sequence Viewer  
  XP_024302249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274903 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274904 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274905 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274906 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274908 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274909 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274910 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274911 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274912 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274913 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274914 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211725 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211726 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211727 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211728 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211729 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211730 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211731 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211732 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH64145 (Get FASTA)   NCBI Sequence Viewer  
  AAI21021 (Get FASTA)   NCBI Sequence Viewer  
  AAI21022 (Get FASTA)   NCBI Sequence Viewer  
  BAA91102 (Get FASTA)   NCBI Sequence Viewer  
  BAC87494 (Get FASTA)   NCBI Sequence Viewer  
  BAF84424 (Get FASTA)   NCBI Sequence Viewer  
  CAK32475 (Get FASTA)   NCBI Sequence Viewer  
  EAW55425 (Get FASTA)   NCBI Sequence Viewer  
  EAW55426 (Get FASTA)   NCBI Sequence Viewer  
  EAW55427 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000274695
  ENSP00000274695.4
  ENSP00000367873.1
  ENSP00000481755.1
GenBank Protein Q5VV42 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_060244   ⟸   NM_017774
- UniProtKB: Q6ZR27 (UniProtKB/Swiss-Prot),   Q6P385 (UniProtKB/Swiss-Prot),   A8K6S0 (UniProtKB/Swiss-Prot),   Q9NXB3 (UniProtKB/Swiss-Prot),   Q5VV42 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513020   ⟸   XM_011514718
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513021   ⟸   XM_011514719
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016866475   ⟸   XM_017010986
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024302249   ⟸   XM_024446481
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: ENSP00000481755   ⟸   ENST00000613575
RefSeq Acc Id: ENSP00000367873   ⟸   ENST00000378610
RefSeq Acc Id: ENSP00000274695   ⟸   ENST00000274695
RefSeq Acc Id: XP_047274905   ⟸   XM_047418949
- Peptide Label: isoform X1
- UniProtKB: Q6ZR27 (UniProtKB/Swiss-Prot),   Q6P385 (UniProtKB/Swiss-Prot),   Q5VV42 (UniProtKB/Swiss-Prot),   A8K6S0 (UniProtKB/Swiss-Prot),   Q9NXB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047274908   ⟸   XM_047418952
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047274903   ⟸   XM_047418947
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047274904   ⟸   XM_047418948
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047274906   ⟸   XM_047418950
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047274914   ⟸   XM_047418958
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047274907   ⟸   XM_047418951
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047274910   ⟸   XM_047418954
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047274911   ⟸   XM_047418955
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047274909   ⟸   XM_047418953
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047274912   ⟸   XM_047418956
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047274913   ⟸   XM_047418957
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054211725   ⟸   XM_054355750
- Peptide Label: isoform X1
- UniProtKB: Q6ZR27 (UniProtKB/Swiss-Prot),   Q6P385 (UniProtKB/Swiss-Prot),   Q5VV42 (UniProtKB/Swiss-Prot),   A8K6S0 (UniProtKB/Swiss-Prot),   Q9NXB3 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054211727   ⟸   XM_054355752
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211726   ⟸   XM_054355751
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211729   ⟸   XM_054355754
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054211728   ⟸   XM_054355753
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211732   ⟸   XM_054355757
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054211731   ⟸   XM_054355756
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054211730   ⟸   XM_054355755
- Peptide Label: isoform X5
Protein Domains
MTTase N-terminal   Radical SAM core   TRAM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5VV42-F1-model_v2 AlphaFold Q5VV42 1-579 view protein structure

Promoters
RGD ID:6872170
Promoter ID:EPDNEW_H9250
Type:initiation region
Name:CDKAL1_1
Description:CDK5 regulatory subunit associated protein 1 like 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H9248  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38620,534,481 - 20,534,541EPDNEW
RGD ID:6803885
Promoter ID:HG_KWN:52472
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_017774,   UC003NDB.1,   UC003NDC.1,   UC003NDE.1,   UC010JPO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36620,642,469 - 20,642,969 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21050 AgrOrtholog
COSMIC CDKAL1 COSMIC
Ensembl Genes ENSG00000145996 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000274695 ENTREZGENE
  ENST00000274695.8 UniProtKB/Swiss-Prot
  ENST00000378610.1 UniProtKB/Swiss-Prot
  ENST00000613575.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.12160 UniProtKB/Swiss-Prot
  3.80.30.20 UniProtKB/Swiss-Prot
GTEx ENSG00000145996 GTEx
HGNC ID HGNC:21050 ENTREZGENE
Human Proteome Map CDKAL1 Human Proteome Map
InterPro Elp3/MiaB/NifB UniProtKB/Swiss-Prot
  Methylthiotransferase UniProtKB/Swiss-Prot
  Methylthiotransferase_CS UniProtKB/Swiss-Prot
  Methylthiotransferase_N UniProtKB/Swiss-Prot
  Methylthiotransferase_N_sf UniProtKB/Swiss-Prot
  MiaB-like_B UniProtKB/Swiss-Prot
  rSAM UniProtKB/Swiss-Prot
  rSAM_horseshoe UniProtKB/Swiss-Prot
  TRAM_dom UniProtKB/Swiss-Prot
KEGG Report hsa:54901 UniProtKB/Swiss-Prot
NCBI Gene 54901 ENTREZGENE
OMIM 611259 OMIM
PANTHER RADICAL SAM PROTEINS UniProtKB/Swiss-Prot
  THREONYLCARBAMOYLADENOSINE TRNA METHYLTHIOTRANSFERASE UniProtKB/Swiss-Prot
Pfam Radical_SAM UniProtKB/Swiss-Prot
  TRAM UniProtKB/Swiss-Prot
  UPF0004 UniProtKB/Swiss-Prot
PharmGKB PA134871999 PharmGKB
PROSITE MTTASE_N UniProtKB/Swiss-Prot
  MTTASE_RADICAL UniProtKB/Swiss-Prot
  RADICAL_SAM UniProtKB/Swiss-Prot
  TRAM UniProtKB/Swiss-Prot
SMART Elp3 UniProtKB/Swiss-Prot
Superfamily-SCOP Radical SAM enzymes UniProtKB/Swiss-Prot
UniProt A8K6S0 ENTREZGENE
  CDKAL_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6P385 ENTREZGENE
  Q6ZR27 ENTREZGENE
  Q9NXB3 ENTREZGENE
UniProt Secondary A8K6S0 UniProtKB/Swiss-Prot
  Q6P385 UniProtKB/Swiss-Prot
  Q6ZR27 UniProtKB/Swiss-Prot
  Q9NXB3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 CDKAL1  CDK5 regulatory subunit associated protein 1 like 1  CDKAL1  CDK5 regulatory subunit associated protein 1-like 1  Symbol and/or name change 5135510 APPROVED