DAPK3 (death associated protein kinase 3) - Rat Genome Database

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Gene: DAPK3 (death associated protein kinase 3) Homo sapiens
Analyze
Symbol: DAPK3
Name: death associated protein kinase 3
RGD ID: 731385
HGNC Page HGNC:2676
Description: Enables several functions, including ATP binding activity; leucine zipper domain binding activity; and protein homodimerization activity. Involved in several processes, including cellular response to type II interferon; positive regulation of canonical Wnt signaling pathway; and regulation of focal adhesion assembly. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DAP kinase 3; DAP-like kinase; death-associated like kinase; death-associated protein kinase 3; dlk; FLJ36473; MYPT1 kinase; ZIP; ZIP kinase isoform; ZIP-kinase; ZIPK; zipper-interacting protein kinase
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
GRCh38193,958,453 - 3,971,099 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl193,958,453 - 3,971,123 (-)EnsemblGRCh38hg38GRCh38
GRCh37193,958,451 - 3,971,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,909,452 - 3,920,826 (-)NCBINCBI36Build 36hg18NCBI36
Build 34193,909,451 - 3,920,826NCBI
Celera193,895,592 - 3,906,968 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef193,721,681 - 3,733,014 (-)NCBIHuRef
CHM1_1193,958,113 - 3,969,502 (-)NCBICHM1_1
T2T-CHM13v2.0193,937,706 - 3,950,355 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
amenorrhea  (IAGP)
genetic disease  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
Aroclor 1254  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butan-1-ol  (EXP)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium atom  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
diazinon  (ISO)
dioxygen  (ISO)
elemental selenium  (EXP)
ethanol  (EXP,ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
glycidol  (ISO)
hydrogen cyanide  (ISO)
isobutanol  (EXP)
L-methionine  (ISO)
leflunomide  (EXP)
methapyrilene  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxyacetic acid  (ISO)
methylphenidate  (ISO)
motexafin gadolinium  (EXP)
oxybenzone  (ISO)
p-menthan-3-ol  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
selenium atom  (EXP)
sodium fluoride  (ISO)
thioacetamide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
zinc acetate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin filament  (ISO)
cytoplasm  (IBA,IEA)
cytosol  (IDA)
membrane raft  (ISO)
nucleoplasm  (IDA)
nucleus  (IBA,IEA,ISS,TAS)
PML body  (IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. The association of death-associated protein kinase hypermethylation with early recurrence in superficial bladder cancers. Tada Y, etal., Cancer Res 2002 Jul 15;62(14):4048-53.
Additional References at PubMed
PMID:9488481   PMID:9747039   PMID:10356987   PMID:10580117   PMID:10602480   PMID:12242277   PMID:12477932   PMID:12560483   PMID:12917339   PMID:14685163   PMID:14702039   PMID:15001356  
PMID:15292222   PMID:15489334   PMID:15546961   PMID:15910542   PMID:16344560   PMID:16756490   PMID:17126281   PMID:18082144   PMID:18084323   PMID:18239682   PMID:18515077   PMID:18995835  
PMID:19117059   PMID:19953087   PMID:20085750   PMID:20854903   PMID:21169990   PMID:21454679   PMID:21487036   PMID:21873635   PMID:21988832   PMID:22145905   PMID:22939624   PMID:23146908  
PMID:23326517   PMID:23454120   PMID:24633547   PMID:25226531   PMID:25304685   PMID:25503649   PMID:25723491   PMID:25769953   PMID:26117336   PMID:26186194   PMID:26496610   PMID:26638075  
PMID:26748242   PMID:27126362   PMID:27880917   PMID:28011458   PMID:28075459   PMID:28319085   PMID:28514442   PMID:28731173   PMID:28986522   PMID:29509190   PMID:30021884   PMID:30548122  
PMID:30890647   PMID:31091453   PMID:31586073   PMID:31811899   PMID:32306542   PMID:32532922   PMID:32707033   PMID:32780723   PMID:32877691   PMID:32918875   PMID:32994395   PMID:33032825  
PMID:33090408   PMID:33767426   PMID:33961781   PMID:34375503   PMID:34520821   PMID:35271311   PMID:35368029   PMID:35470010   PMID:35509820   PMID:35604388   PMID:35944360   PMID:35961135  
PMID:36526897   PMID:36736316   PMID:36931259   PMID:37084168   PMID:37499664   PMID:37700438  


Genomics

Comparative Map Data
DAPK3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38193,958,453 - 3,971,099 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl193,958,453 - 3,971,123 (-)EnsemblGRCh38hg38GRCh38
GRCh37193,958,451 - 3,971,097 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36193,909,452 - 3,920,826 (-)NCBINCBI36Build 36hg18NCBI36
Build 34193,909,451 - 3,920,826NCBI
Celera193,895,592 - 3,906,968 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef193,721,681 - 3,733,014 (-)NCBIHuRef
CHM1_1193,958,113 - 3,969,502 (-)NCBICHM1_1
T2T-CHM13v2.0193,937,706 - 3,950,355 (-)NCBIT2T-CHM13v2.0
Dapk3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391081,018,821 - 81,029,031 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1081,018,839 - 81,029,031 (+)EnsemblGRCm39 Ensembl
GRCm381081,182,987 - 81,193,197 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1081,183,005 - 81,193,197 (+)EnsemblGRCm38mm10GRCm38
MGSCv371080,645,752 - 80,655,942 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361080,587,134 - 80,596,127 (+)NCBIMGSCv36mm8
Celera1082,203,364 - 82,213,553 (+)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
Dapk3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr879,174,903 - 9,183,272 (-)NCBIGRCr8
mRatBN7.278,524,182 - 8,532,552 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl78,524,183 - 8,532,558 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx711,409,265 - 11,417,634 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0713,284,751 - 13,293,120 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0711,151,188 - 11,159,566 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0711,392,436 - 11,400,855 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl711,392,437 - 11,400,805 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0711,559,842 - 11,568,242 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4710,007,997 - 10,016,365 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1710,007,996 - 10,016,365 (-)NCBI
Celera76,712,067 - 6,720,435 (-)NCBICelera
Cytogenetic Map7q11NCBI
Dapk3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554954,810,474 - 4,823,259 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554954,809,475 - 4,822,210 (+)NCBIChiLan1.0ChiLan1.0
DAPK3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2208,357,518 - 8,369,504 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1197,589,027 - 7,601,004 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0192,984,806 - 2,996,782 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1193,934,496 - 3,946,011 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl193,934,496 - 3,946,011 (-)Ensemblpanpan1.1panPan2
DAPK3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12055,590,199 - 55,603,883 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2055,590,223 - 55,602,682 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2055,315,718 - 55,329,927 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02056,250,289 - 56,264,535 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2056,250,314 - 56,263,999 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12055,306,274 - 55,320,466 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02055,788,043 - 55,802,254 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02055,986,748 - 56,000,993 (+)NCBIUU_Cfam_GSD_1.0
Dapk3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118215,576,995 - 215,590,047 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365882,244,708 - 2,257,779 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365882,246,142 - 2,257,733 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DAPK3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl274,759,004 - 74,775,330 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1274,758,962 - 74,776,355 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2275,303,427 - 75,320,026 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DAPK3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.163,713,179 - 3,729,223 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl63,712,170 - 3,727,929 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660814,517,737 - 4,535,148 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dapk3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248285,621,696 - 5,625,601 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248285,616,839 - 5,626,849 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DAPK3
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3 copy number gain See cases [RCV000052878] Chr19:1565575..4108128 [GRCh38]
Chr19:1565574..4108126 [GRCh37]
Chr19:1516574..4059126 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1 copy number loss See cases [RCV000053942] Chr19:2926238..4051635 [GRCh38]
Chr19:2926236..4051633 [GRCh37]
Chr19:2877236..4002633 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1 copy number loss See cases [RCV000053943] Chr19:3554635..4690965 [GRCh38]
Chr19:3554633..4690977 [GRCh37]
Chr19:3505633..4641977 [NCBI36]
Chr19:19p13.3		 pathogenic
NM_001348.2(DAPK3):c.795C>T (p.Thr265=) single nucleotide variant Malignant melanoma [RCV000072076] Chr19:3960092 [GRCh38]
Chr19:3960090 [GRCh37]
Chr19:3911090 [NCBI36]
Chr19:19p13.3		 not provided
GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3 copy number gain See cases [RCV000134164] Chr19:3947934..5196676 [GRCh38]
Chr19:3947932..5196687 [GRCh37]
Chr19:3898932..5147687 [NCBI36]
Chr19:19p13.3		 pathogenic|uncertain significance
GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1 copy number loss See cases [RCV000134482] Chr19:3338024..4833139 [GRCh38]
Chr19:3338022..4833151 [GRCh37]
Chr19:3289022..4784151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1 copy number loss See cases [RCV000134795] Chr19:1549144..4288720 [GRCh38]
Chr19:1549143..4288717 [GRCh37]
Chr19:1500143..4239717 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1 copy number loss See cases [RCV000135779] Chr19:3437996..4039217 [GRCh38]
Chr19:3437994..4039215 [GRCh37]
Chr19:3388994..3990215 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3 copy number gain See cases [RCV000137713] Chr19:3080621..4912622 [GRCh38]
Chr19:3080619..4912634 [GRCh37]
Chr19:3031619..4863634 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1 copy number loss See cases [RCV000143614] Chr19:3788727..5147354 [GRCh38]
Chr19:3788725..5147365 [GRCh37]
Chr19:3739725..5098365 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:2652901-4342179)x3 copy number gain See cases [RCV000448078] Chr19:2652901..4342179 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
Single allele duplication Primary amenorrhea [RCV000754469] Chr19:3718839..4604407 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
Single allele deletion Internal malformations [RCV000787421] Chr19:2229488..4004142 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:3076808-4796782) copy number loss not provided [RCV000767742] Chr19:3076808..4796782 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_001348.3(DAPK3):c.594G>A (p.Ala198=) single nucleotide variant not provided [RCV000908788] Chr19:3963879 [GRCh38]
Chr19:3963877 [GRCh37]
Chr19:19p13.3		 benign
NM_001348.3(DAPK3):c.1235G>T (p.Arg412Leu) single nucleotide variant Inborn genetic diseases [RCV003248596] Chr19:3959231 [GRCh38]
Chr19:3959229 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:3501624-5357124)x1 copy number loss not provided [RCV001834187] Chr19:3501624..5357124 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:3788725-4225547)x1 copy number loss not provided [RCV001827741] Chr19:3788725..4225547 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.373G>A (p.Asp125Asn) single nucleotide variant Inborn genetic diseases [RCV002689025] Chr19:3964681 [GRCh38]
Chr19:3964679 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1193A>C (p.Glu398Ala) single nucleotide variant Inborn genetic diseases [RCV002969188] Chr19:3959273 [GRCh38]
Chr19:3959271 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1222G>T (p.Gly408Cys) single nucleotide variant Inborn genetic diseases [RCV002762658] Chr19:3959244 [GRCh38]
Chr19:3959242 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.155G>T (p.Ser52Ile) single nucleotide variant Inborn genetic diseases [RCV002757330] Chr19:3964899 [GRCh38]
Chr19:3964897 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.977C>T (p.Ser326Phe) single nucleotide variant Inborn genetic diseases [RCV003001600] Chr19:3959489 [GRCh38]
Chr19:3959487 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1136G>C (p.Arg379Pro) single nucleotide variant Inborn genetic diseases [RCV002978293] Chr19:3959330 [GRCh38]
Chr19:3959328 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1085A>C (p.Glu362Ala) single nucleotide variant Inborn genetic diseases [RCV002797548] Chr19:3959381 [GRCh38]
Chr19:3959379 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1234C>A (p.Arg412Ser) single nucleotide variant Inborn genetic diseases [RCV002835453] Chr19:3959232 [GRCh38]
Chr19:3959230 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.995C>A (p.Ala332Glu) single nucleotide variant Inborn genetic diseases [RCV002669372] Chr19:3959471 [GRCh38]
Chr19:3959469 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.509C>T (p.Ala170Val) single nucleotide variant Inborn genetic diseases [RCV002965012] Chr19:3964288 [GRCh38]
Chr19:3964286 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.877G>C (p.Glu293Gln) single nucleotide variant Inborn genetic diseases [RCV003201883] Chr19:3959589 [GRCh38]
Chr19:3959587 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1169C>T (p.Ala390Val) single nucleotide variant Inborn genetic diseases [RCV003201608] Chr19:3959297 [GRCh38]
Chr19:3959295 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_001348.3(DAPK3):c.1051G>A (p.Glu351Lys) single nucleotide variant Inborn genetic diseases [RCV003351579] Chr19:3959415 [GRCh38]
Chr19:3959413 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3(chr19:3788725-4881494)x1 copy number loss not specified [RCV003986118] Chr19:3788725..4881494 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:3794098-4036681)x1 copy number loss not specified [RCV003986108] Chr19:3794098..4036681 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2671
Count of miRNA genes:760
Interacting mature miRNAs:926
Transcripts:ENST00000301264, ENST00000545797, ENST00000593844, ENST00000594894, ENST00000595279, ENST00000596311, ENST00000601824
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
RH47447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37193,958,596 - 3,958,737UniSTSGRCh37
Build 36193,909,596 - 3,909,737RGDNCBI36
Celera193,895,736 - 3,895,877RGD
Cytogenetic Map19p13.3UniSTS
HuRef193,721,825 - 3,721,966UniSTS
GeneMap99-GB4 RH Map1931.4UniSTS


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 2431 2833 1577 484 1803 328 4355 2158 3350 363 1454 1601 173 1204 2788 6
Low 8 158 149 140 146 137 2 39 384 56 6 12 2 1 2
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB007144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB022341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB265224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI654829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ782734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA748997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY104892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000301264   ⟹   ENSP00000301264
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,958,454 - 3,969,828 (-)Ensembl
RefSeq Acc Id: ENST00000545797   ⟹   ENSP00000442973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,958,453 - 3,971,099 (-)Ensembl
RefSeq Acc Id: ENST00000593844   ⟹   ENSP00000470115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,964,631 - 3,969,938 (-)Ensembl
RefSeq Acc Id: ENST00000594894   ⟹   ENSP00000470168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,959,639 - 3,961,159 (-)Ensembl
RefSeq Acc Id: ENST00000595279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,958,458 - 3,961,840 (-)Ensembl
RefSeq Acc Id: ENST00000596311   ⟹   ENSP00000471154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,964,322 - 3,971,123 (-)Ensembl
RefSeq Acc Id: ENST00000601824   ⟹   ENSP00000472988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl193,964,323 - 3,970,624 (-)Ensembl
RefSeq Acc Id: NM_001348   ⟹   NP_001339
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,958,453 - 3,971,099 (-)NCBI
GRCh37193,958,451 - 3,971,097 (-)NCBI
Build 36193,909,452 - 3,920,826 (-)NCBI Archive
HuRef193,721,681 - 3,733,014 (-)ENTREZGENE
CHM1_1193,958,112 - 3,970,797 (-)NCBI
T2T-CHM13v2.0193,937,706 - 3,950,355 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001375658   ⟹   NP_001362587
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,958,453 - 3,971,099 (-)NCBI
T2T-CHM13v2.0193,937,706 - 3,950,355 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001339   ⟸   NM_001348
- UniProtKB: B3KQE2 (UniProtKB/Swiss-Prot),   A0AVN4 (UniProtKB/Swiss-Prot),   Q05JY4 (UniProtKB/Swiss-Prot),   O43293 (UniProtKB/Swiss-Prot),   B3KNJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001362587   ⟸   NM_001375658
- UniProtKB: O43293 (UniProtKB/Swiss-Prot),   B3KQE2 (UniProtKB/Swiss-Prot),   A0AVN4 (UniProtKB/Swiss-Prot),   Q05JY4 (UniProtKB/Swiss-Prot),   B3KNJ3 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000470168   ⟸   ENST00000594894
RefSeq Acc Id: ENSP00000471154   ⟸   ENST00000596311
RefSeq Acc Id: ENSP00000442973   ⟸   ENST00000545797
RefSeq Acc Id: ENSP00000472988   ⟸   ENST00000601824
RefSeq Acc Id: ENSP00000301264   ⟸   ENST00000301264
RefSeq Acc Id: ENSP00000470115   ⟸   ENST00000593844
Protein Domains
Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43293-F1-model_v2 AlphaFold O43293 1-454 view protein structure

Promoters
RGD ID:6795308
Promoter ID:HG_KWN:28551
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:UC002LZC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,920,621 - 3,921,121 (-)MPROMDB
RGD ID:6795310
Promoter ID:HG_KWN:28552
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002LZD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36193,921,979 - 3,922,479 (-)MPROMDB
RGD ID:7238055
Promoter ID:EPDNEW_H24773
Type:initiation region
Name:DAPK3_1
Description:death associated protein kinase 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38193,969,746 - 3,969,806EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2676 AgrOrtholog
COSMIC DAPK3 COSMIC
Ensembl Genes ENSG00000167657 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301264 ENTREZGENE
  ENST00000301264.7 UniProtKB/Swiss-Prot
  ENST00000545797 ENTREZGENE
  ENST00000545797.7 UniProtKB/Swiss-Prot
  ENST00000593844.1 UniProtKB/TrEMBL
  ENST00000594894.1 UniProtKB/TrEMBL
  ENST00000596311.5 UniProtKB/TrEMBL
  ENST00000601824.1 UniProtKB/TrEMBL
Gene3D-CATH Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167657 GTEx
HGNC ID HGNC:2676 ENTREZGENE
Human Proteome Map DAPK3 Human Proteome Map
InterPro DAPK3_STKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1613 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1613 ENTREZGENE
OMIM 603289 OMIM
PANTHER DEATH-ASSOCIATED PROTEIN KINASE 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE-PROTEIN KINASE 17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27144 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0AVN4 ENTREZGENE
  B3KNJ3 ENTREZGENE, UniProtKB/TrEMBL
  B3KQE2 ENTREZGENE
  DAPK3_HUMAN UniProtKB/Swiss-Prot
  M0QYW5_HUMAN UniProtKB/TrEMBL
  M0QYY8_HUMAN UniProtKB/TrEMBL
  M0R0D0_HUMAN UniProtKB/TrEMBL
  O43293 ENTREZGENE
  Q05JY4 ENTREZGENE
UniProt Secondary A0AVN4 UniProtKB/Swiss-Prot
  B3KQE2 UniProtKB/Swiss-Prot
  Q05JY4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 DAPK3  death associated protein kinase 3    death-associated protein kinase 3  Symbol and/or name change 5135510 APPROVED