DGKI (diacylglycerol kinase iota) - Rat Genome Database

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Gene: DGKI (diacylglycerol kinase iota) Homo sapiens
Analyze
Symbol: DGKI
Name: diacylglycerol kinase iota
RGD ID: 1343674
HGNC Page HGNC:2855
Description: Enables ATP-dependent diacylglycerol kinase activity. Involved in lipid phosphorylation. Located in cytoplasm; dendritic spine; and nucleus. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DAG kinase iota; DGK-IOTA; diacylglycerol kinase, iota; diglyceride kinase iota
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
GRCh387137,381,037 - 137,846,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7137,381,037 - 137,847,092 (-)EnsemblGRCh38hg38GRCh38
GRCh377137,065,783 - 137,531,720 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367136,724,925 - 137,182,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 347136,531,639 - 136,988,864NCBI
Celera7131,813,301 - 132,270,574 (-)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7131,379,554 - 131,839,437 (-)NCBIHuRef
CHM1_17137,007,692 - 137,465,171 (-)NCBICHM1_1
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27136,418,404 - 136,876,991 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Molecular Function

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. The cloning and characterization of a novel human diacylglycerol kinase, DGKiota. Ding L, etal., J Biol Chem 1998 Dec 4;273(49):32746-52.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10706894   PMID:12690205   PMID:14702039   PMID:15894621   PMID:16344560   PMID:17986458   PMID:19065143   PMID:20379614   PMID:21119615   PMID:21203819   PMID:21502085   PMID:21873635  
PMID:24468470   PMID:25056061   PMID:25233099   PMID:26344197   PMID:30021884   PMID:36059514   PMID:36543142  


Genomics

Comparative Map Data
DGKI
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387137,381,037 - 137,846,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7137,381,037 - 137,847,092 (-)EnsemblGRCh38hg38GRCh38
GRCh377137,065,783 - 137,531,720 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367136,724,925 - 137,182,149 (-)NCBINCBI36Build 36hg18NCBI36
Build 347136,531,639 - 136,988,864NCBI
Celera7131,813,301 - 132,270,574 (-)NCBICelera
Cytogenetic Map7q33NCBI
HuRef7131,379,554 - 131,839,437 (-)NCBIHuRef
CHM1_17137,007,692 - 137,465,171 (-)NCBICHM1_1
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27136,418,404 - 136,876,991 (-)NCBI
Dgki
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39636,814,316 - 37,281,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl636,822,957 - 37,277,119 (-)EnsemblGRCm39 Ensembl
GRCm38636,837,381 - 37,300,955 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl636,846,022 - 37,300,184 (-)EnsemblGRCm38mm10GRCm38
MGSCv37636,796,022 - 37,249,976 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36636,776,174 - 37,229,582 (-)NCBIMGSCv36mm8
Celera636,822,759 - 37,278,859 (-)NCBICelera
Cytogenetic Map6B1NCBI
Dgki
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8466,377,897 - 66,839,790 (-)NCBIGRCr8
mRatBN7.2465,410,878 - 65,872,733 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl465,420,108 - 65,872,733 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx470,368,009 - 70,814,746 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0466,289,073 - 66,735,818 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0464,686,142 - 65,132,286 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0464,365,115 - 64,831,473 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl464,374,342 - 64,831,473 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0464,193,188 - 64,653,936 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4464,207,192 - 64,663,627 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1464,483,440 - 64,939,757 (-)NCBI
Celera460,450,503 - 60,895,770 (-)NCBICelera
Cytogenetic Map4q22NCBI
Dgki
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554945,264,414 - 5,539,540 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554945,119,419 - 5,541,058 (+)NCBIChiLan1.0ChiLan1.0
DGKI
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26174,189,524 - 174,669,483 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1726,202,852 - 26,677,863 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07129,339,330 - 129,812,443 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17141,833,815 - 142,142,262 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7141,841,852 - 142,142,310 (-)Ensemblpanpan1.1panPan2
DGKI
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11610,975,394 - 11,250,430 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1610,682,935 - 11,248,029 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1611,843,635 - 12,272,254 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01610,791,210 - 11,215,338 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1610,790,994 - 11,235,389 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11611,253,927 - 11,684,568 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01610,355,968 - 10,784,441 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01610,498,287 - 10,926,978 (+)NCBIUU_Cfam_GSD_1.0
Dgki
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511817,082,903 - 17,377,888 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365921,844,315 - 2,270,814 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365921,843,438 - 2,136,905 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DGKI
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1811,705,093 - 12,177,267 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11811,705,055 - 12,187,098 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21812,574,313 - 12,854,605 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DGKI
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121106,074,522 - 106,544,009 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21106,076,928 - 106,317,825 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660722,926,590 - 3,409,867 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dgki
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476517,669,645 - 18,124,967 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476517,663,347 - 18,128,007 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DGKI
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172] Chr7:132023155..149309794 [GRCh38]
Chr7:131707914..149006885 [GRCh37]
Chr7:131358454..148637818 [NCBI36]
Chr7:7q32.3-36.1
pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1 copy number loss See cases [RCV000054173] Chr7:135414108..144140219 [GRCh38]
Chr7:135098857..143837312 [GRCh37]
Chr7:134749397..143468245 [NCBI36]
Chr7:7q33-35
pathogenic
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1 copy number loss See cases [RCV000054174] Chr7:137741740..139688885 [GRCh38]
Chr7:137426486..139373631 [GRCh37]
Chr7:137077026..139024171 [NCBI36]
Chr7:7q33-34
pathogenic
NM_004717.2(DGKI):c.1617C>T (p.Val539=) single nucleotide variant Malignant melanoma [RCV000067660] Chr7:137581875 [GRCh38]
Chr7:137266621 [GRCh37]
Chr7:136917161 [NCBI36]
Chr7:7q33
not provided
NM_004717.2(DGKI):c.799G>A (p.Gly267Ser) single nucleotide variant Malignant melanoma [RCV000067661] Chr7:137645477 [GRCh38]
Chr7:137330223 [GRCh37]
Chr7:136980763 [NCBI36]
Chr7:7q33
not provided
NM_004717.2(DGKI):c.557C>T (p.Ser186Leu) single nucleotide variant Malignant melanoma [RCV000061567] Chr7:137678606 [GRCh38]
Chr7:137363352 [GRCh37]
Chr7:137013892 [NCBI36]
Chr7:7q33
not provided
NM_004717.2(DGKI):c.2785+11539A>T single nucleotide variant Lung cancer [RCV000105663] Chr7:137432538 [GRCh38]
Chr7:137117284 [GRCh37]
Chr7:7q33
uncertain significance
NM_004717.2(DGKI):c.2637-999C>G single nucleotide variant Lung cancer [RCV000105664] Chr7:137464610 [GRCh38]
Chr7:137149356 [GRCh37]
Chr7:7q33
uncertain significance
NM_004717.2(DGKI):c.402-3803G>A single nucleotide variant Lung cancer [RCV000105665] Chr7:137693805 [GRCh38]
Chr7:137378551 [GRCh37]
Chr7:7q33
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1 copy number loss See cases [RCV000138903] Chr7:135017687..148807400 [GRCh38]
Chr7:134702438..148504492 [GRCh37]
Chr7:134352978..148135425 [NCBI36]
Chr7:7q33-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33(chr7:137327397-137435946)x1 copy number loss See cases [RCV000445747] Chr7:137327397..137435946 [GRCh37]
Chr7:7q33
likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1 copy number loss See cases [RCV000448552] Chr7:131642114..139107211 [GRCh37]
Chr7:7q32.3-34
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001321708.2(DGKI):c.2959G>A (p.Gly987Ser) single nucleotide variant Inborn genetic diseases [RCV003261295] Chr7:137395696 [GRCh38]
Chr7:137080442 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3 copy number gain See cases [RCV000512176] Chr7:137434852..140349546 [GRCh37]
Chr7:7q33-34
uncertain significance
GRCh37/hg19 7q33(chr7:136999882-137322876)x3 copy number gain not provided [RCV000682825] Chr7:136999882..137322876 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q33(chr7:133230189-137972605)x1 copy number loss not provided [RCV000682906] Chr7:133230189..137972605 [GRCh37]
Chr7:7q33
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
Single allele complex Renal transitional cell carcinoma [RCV000754611] Chr7:129367205..140482957 [GRCh37]
Chr7:7q32.2-34
likely pathogenic
GRCh37/hg19 7q33(chr7:137493265-137562834)x1 copy number loss not provided [RCV000747062] Chr7:137493265..137562834 [GRCh37]
Chr7:7q33
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33(chr7:137183506-137611567)x3 copy number gain not provided [RCV000849444] Chr7:137183506..137611567 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q33(chr7:137180374-137611567)x3 copy number gain not provided [RCV000848803] Chr7:137180374..137611567 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q33(chr7:134648448-137942208)x1 copy number loss not provided [RCV000849809] Chr7:134648448..137942208 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3 copy number gain Neurodevelopmental disorder [RCV003327609] Chr7:137463392..159345973 [GRCh38]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1 copy number loss not provided [RCV001006019] Chr7:135677938..139810886 [GRCh37]
Chr7:7q33-34
pathogenic
GRCh37/hg19 7q33(chr7:137179553-137624697)x3 copy number gain not provided [RCV001258976] Chr7:137179553..137624697 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1 copy number loss Hypertelorism [RCV001801200] Chr7:133848099..145814115 [GRCh37]
Chr7:7q33-35
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34
pathogenic
GRCh37/hg19 7q33(chr7:136876370-137804126) copy number loss not specified [RCV002053735] Chr7:136876370..137804126 [GRCh37]
Chr7:7q33
uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del deletion not provided [RCV003116360] Chr7:130781014..150301047 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_001321708.2(DGKI):c.3124C>A (p.Arg1042Ser) single nucleotide variant Inborn genetic diseases [RCV003276991] Chr7:137391270 [GRCh38]
Chr7:137076016 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1 copy number loss not provided [RCV002472560] Chr7:131779213..149042734 [GRCh37]
Chr7:7q32.3-36.1
pathogenic
NM_001321708.2(DGKI):c.83C>G (p.Ala28Gly) single nucleotide variant Inborn genetic diseases [RCV003287329] Chr7:137846780 [GRCh38]
Chr7:137531526 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.189A>T (p.Lys63Asn) single nucleotide variant Inborn genetic diseases [RCV002841594] Chr7:137846674 [GRCh38]
Chr7:137531420 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2180G>A (p.Arg727Gln) single nucleotide variant Inborn genetic diseases [RCV002841776] Chr7:137521934 [GRCh38]
Chr7:137206680 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.3124C>T (p.Arg1042Cys) single nucleotide variant Inborn genetic diseases [RCV002972988] Chr7:137391270 [GRCh38]
Chr7:137076016 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.44C>A (p.Ala15Glu) single nucleotide variant Inborn genetic diseases [RCV002753804] Chr7:137846819 [GRCh38]
Chr7:137531565 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.3131A>G (p.Asn1044Ser) single nucleotide variant Inborn genetic diseases [RCV002849399] Chr7:137391263 [GRCh38]
Chr7:137076009 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.431A>G (p.His144Arg) single nucleotide variant Inborn genetic diseases [RCV002759511] Chr7:137689973 [GRCh38]
Chr7:137374719 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2207A>G (p.Tyr736Cys) single nucleotide variant Inborn genetic diseases [RCV002910605] Chr7:137521907 [GRCh38]
Chr7:137206653 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2276G>A (p.Arg759His) single nucleotide variant Inborn genetic diseases [RCV002955528] Chr7:137487662 [GRCh38]
Chr7:137172408 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.329G>A (p.Gly110Asp) single nucleotide variant Inborn genetic diseases [RCV002915208] Chr7:137846534 [GRCh38]
Chr7:137531280 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.274G>T (p.Ala92Ser) single nucleotide variant Inborn genetic diseases [RCV002712419] Chr7:137846589 [GRCh38]
Chr7:137531335 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2266C>A (p.Leu756Ile) single nucleotide variant Inborn genetic diseases [RCV002743937] Chr7:137487672 [GRCh38]
Chr7:137172418 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.11C>A (p.Ala4Glu) single nucleotide variant Inborn genetic diseases [RCV002665621] Chr7:137846852 [GRCh38]
Chr7:137531598 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.312C>G (p.Asp104Glu) single nucleotide variant Inborn genetic diseases [RCV002929255] Chr7:137846551 [GRCh38]
Chr7:137531297 [GRCh37]
Chr7:7q33
likely benign
NM_001321708.2(DGKI):c.2212G>A (p.Gly738Arg) single nucleotide variant Inborn genetic diseases [RCV002874803] Chr7:137521902 [GRCh38]
Chr7:137206648 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2916C>A (p.Asp972Glu) single nucleotide variant Inborn genetic diseases [RCV003004201] Chr7:137407879 [GRCh38]
Chr7:137092625 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2694G>C (p.Glu898Asp) single nucleotide variant Inborn genetic diseases [RCV002742189] Chr7:137463530 [GRCh38]
Chr7:137148276 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.778G>A (p.Glu260Lys) single nucleotide variant Inborn genetic diseases [RCV002827889] Chr7:137645498 [GRCh38]
Chr7:137330244 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2661C>G (p.Asp887Glu) single nucleotide variant Inborn genetic diseases [RCV002897831] Chr7:137463563 [GRCh38]
Chr7:137148309 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.3125G>A (p.Arg1042His) single nucleotide variant Inborn genetic diseases [RCV003174325] Chr7:137391269 [GRCh38]
Chr7:137076015 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.175G>A (p.Ala59Thr) single nucleotide variant Inborn genetic diseases [RCV003213556] Chr7:137846688 [GRCh38]
Chr7:137531434 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.205A>G (p.Ser69Gly) single nucleotide variant Inborn genetic diseases [RCV003191099] Chr7:137846658 [GRCh38]
Chr7:137531404 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2425C>T (p.Arg809Trp) single nucleotide variant Inborn genetic diseases [RCV003203553] Chr7:137469568 [GRCh38]
Chr7:137154314 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.2031G>C (p.Met677Ile) single nucleotide variant Inborn genetic diseases [RCV003212874] Chr7:137552485 [GRCh38]
Chr7:137237231 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.215G>C (p.Ser72Thr) single nucleotide variant Inborn genetic diseases [RCV003184205] Chr7:137846648 [GRCh38]
Chr7:137531394 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.59C>T (p.Ala20Val) single nucleotide variant Inborn genetic diseases [RCV003309008] Chr7:137846804 [GRCh38]
Chr7:137531550 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.53G>C (p.Gly18Ala) single nucleotide variant Inborn genetic diseases [RCV003345263] Chr7:137846810 [GRCh38]
Chr7:137531556 [GRCh37]
Chr7:7q33
uncertain significance
NM_001321708.2(DGKI):c.107C>A (p.Pro36His) single nucleotide variant Inborn genetic diseases [RCV003372082] Chr7:137846756 [GRCh38]
Chr7:137531502 [GRCh37]
Chr7:7q33
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1 copy number loss not provided [RCV003482988] Chr7:135639005..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6726
Count of miRNA genes:1356
Interacting mature miRNAs:1808
Transcripts:ENST00000288490, ENST00000424189, ENST00000446122, ENST00000453654, ENST00000460662, ENST00000470895, ENST00000475388, ENST00000477835, ENST00000483619, ENST00000486153, ENST00000494390, ENST00000497321
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
G18096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,347,612 - 137,347,717UniSTSGRCh37
Build 367136,998,152 - 136,998,257RGDNCBI36
Celera7132,086,666 - 132,086,771RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,655,891 - 131,655,996UniSTS
CRA_TCAGchr7v27136,693,010 - 136,693,115UniSTS
SHGC-34310  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,531,089 - 137,531,239UniSTSGRCh37
Build 367137,181,629 - 137,181,779RGDNCBI36
Celera7132,270,055 - 132,270,204RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,838,918 - 131,839,067UniSTS
CRA_TCAGchr7v27136,876,471 - 136,876,621UniSTS
GeneMap99-G3 RH Map77473.0UniSTS
D7S766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,447,962 - 137,448,098UniSTSGRCh37
Build 367137,098,502 - 137,098,638RGDNCBI36
Celera7132,187,073 - 132,187,209RGD
Cytogenetic Map7q32.3-q33UniSTS
CRA_TCAGchr7v27136,793,351 - 136,793,487UniSTS
RH120776  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,373,150 - 137,373,427UniSTSGRCh37
Build 367137,023,690 - 137,023,967RGDNCBI36
Celera7132,112,199 - 132,112,476RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,681,422 - 131,681,699UniSTS
CRA_TCAGchr7v27136,718,540 - 136,718,817UniSTS
RH120539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,129,016 - 137,129,359UniSTSGRCh37
Build 367136,779,556 - 136,779,899RGDNCBI36
Celera7131,867,932 - 131,868,275RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,434,188 - 131,434,531UniSTS
CRA_TCAGchr7v27136,473,037 - 136,473,380UniSTS
TNG Radiation Hybrid Map761107.0UniSTS
RH119333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,161,614 - 137,161,910UniSTSGRCh37
Build 367136,812,154 - 136,812,450RGDNCBI36
Celera7131,900,679 - 131,900,975RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,466,834 - 131,467,130UniSTS
CRA_TCAGchr7v27136,505,793 - 136,506,089UniSTS
TNG Radiation Hybrid Map761085.0UniSTS
RH118693  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,363,891 - 137,364,108UniSTSGRCh37
Build 367137,014,431 - 137,014,648RGDNCBI36
Celera7132,102,940 - 132,103,157RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,672,165 - 131,672,382UniSTS
CRA_TCAGchr7v27136,709,283 - 136,709,500UniSTS
TNG Radiation Hybrid Map760978.0UniSTS
G62984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,126,919 - 137,127,205UniSTSGRCh37
Build 367136,777,459 - 136,777,745RGDNCBI36
Celera7131,865,835 - 131,866,121RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,432,091 - 131,432,377UniSTS
CRA_TCAGchr7v27136,470,940 - 136,471,226UniSTS
TNG Radiation Hybrid Map761111.0UniSTS
G63373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,205,127 - 137,205,474UniSTSGRCh37
Build 367136,855,667 - 136,856,014RGDNCBI36
Celera7131,944,194 - 131,944,541RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,510,325 - 131,510,672UniSTS
CRA_TCAGchr7v27136,549,305 - 136,549,652UniSTS
TNG Radiation Hybrid Map761058.0UniSTS
SHGC-80700  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,372,726 - 137,373,012UniSTSGRCh37
Build 367137,023,266 - 137,023,552RGDNCBI36
Celera7132,111,775 - 132,112,061RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,680,998 - 131,681,284UniSTS
CRA_TCAGchr7v27136,718,116 - 136,718,402UniSTS
TNG Radiation Hybrid Map760982.0UniSTS
SHGC-132869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,311,002 - 137,311,218UniSTSGRCh37
Build 367136,961,542 - 136,961,758RGDNCBI36
Celera7132,050,051 - 132,050,267RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,619,247 - 131,619,463UniSTS
CRA_TCAGchr7v27136,656,395 - 136,656,611UniSTS
TNG Radiation Hybrid Map760923.0UniSTS
DGKI_589  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,074,211 - 137,075,075UniSTSGRCh37
Build 367136,724,751 - 136,725,615RGDNCBI36
Celera7131,813,127 - 131,813,991RGD
HuRef7131,379,380 - 131,380,244UniSTS
CRA_TCAGchr7v27136,418,230 - 136,419,094UniSTS
GDB:1318597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,372,861 - 137,372,945UniSTSGRCh37
Build 367137,023,401 - 137,023,485RGDNCBI36
Celera7132,111,910 - 132,111,994RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,681,133 - 131,681,217UniSTS
CRA_TCAGchr7v27136,718,251 - 136,718,335UniSTS
RH46201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,506,131 - 137,506,312UniSTSGRCh37
Build 367137,156,671 - 137,156,852RGDNCBI36
Celera7132,245,100 - 132,245,281RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,813,967 - 131,814,148UniSTS
CRA_TCAGchr7v27136,851,515 - 136,851,696UniSTS
GeneMap99-GB4 RH Map7631.14UniSTS
D7S2341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,152,053 - 137,152,207UniSTSGRCh37
Build 367136,802,593 - 136,802,747RGDNCBI36
Celera7131,890,966 - 131,891,120RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,457,117 - 131,457,271UniSTS
CRA_TCAGchr7v27136,496,070 - 136,496,224UniSTS
Whitehead-RH Map7598.5UniSTS
Whitehead-YAC Contig Map7 UniSTS
NCBI RH Map71217.0UniSTS
GDB:3754597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,266,754 - 137,266,822UniSTSGRCh37
Build 367136,917,294 - 136,917,362RGDNCBI36
Celera7132,005,807 - 132,005,875RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,574,988 - 131,575,056UniSTS
CRA_TCAGchr7v27136,612,146 - 136,612,214UniSTS
RH66737  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,073,657 - 137,073,845UniSTSGRCh37
Build 367136,724,197 - 136,724,385RGDNCBI36
Celera7131,812,573 - 131,812,761RGD
Cytogenetic Map7q32.3-q33UniSTS
Cytogenetic Map7q33UniSTS
HuRef7131,378,826 - 131,379,014UniSTS
CRA_TCAGchr7v27136,417,676 - 136,417,864UniSTS
GeneMap99-GB4 RH Map7623.85UniSTS
D7S1593  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377137,363,309 - 137,363,433UniSTSGRCh37
Build 367137,013,849 - 137,013,973RGDNCBI36
Celera7132,102,358 - 132,102,482RGD
Cytogenetic Map7q32.3-q33UniSTS
HuRef7131,671,583 - 131,671,707UniSTS
CRA_TCAGchr7v27136,708,701 - 136,708,825UniSTS
D7S509  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32.3-q33UniSTS
TNG Radiation Hybrid Map760946.0UniSTS
Stanford-G3 RH Map76999.0UniSTS
GeneMap99-GB4 RH Map7629.74UniSTS
GeneMap99-G3 RH Map77500.0UniSTS
D7S509  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32.3-q33UniSTS
D7S509  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q32.3-q33UniSTS
Marshfield Genetic Map7143.33UniSTS
Genethon Genetic Map7145.8UniSTS
deCODE Assembly Map7142.55UniSTS
Whitehead-RH Map7602.9UniSTS
Whitehead-YAC Contig Map7 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 7 16 244 13 14 3 151 15 1 257
Low 498 1058 763 98 375 21 663 223 2837 184 444 543 81 262 276
Below cutoff 1817 1723 585 396 1186 314 3628 1908 722 191 926 712 87 942 2469 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001321708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001388092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH009185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW237608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA696180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000288490   ⟹   ENSP00000288490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,390,524 - 137,846,863 (-)Ensembl
RefSeq Acc Id: ENST00000424189   ⟹   ENSP00000396078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,390,524 - 137,847,092 (-)Ensembl
RefSeq Acc Id: ENST00000446122   ⟹   ENSP00000399131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,390,524 - 137,847,092 (-)Ensembl
RefSeq Acc Id: ENST00000453654   ⟹   ENSP00000392161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,381,037 - 137,846,536 (-)Ensembl
RefSeq Acc Id: ENST00000460662
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,463,489 - 137,581,928 (-)Ensembl
RefSeq Acc Id: ENST00000470895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,585,261 - 137,847,092 (-)Ensembl
RefSeq Acc Id: ENST00000475388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,771,599 - 137,774,649 (-)Ensembl
RefSeq Acc Id: ENST00000477835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,391,038 - 137,454,873 (-)Ensembl
RefSeq Acc Id: ENST00000483619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,678,607 - 137,774,990 (-)Ensembl
RefSeq Acc Id: ENST00000486153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,391,085 - 137,395,973 (-)Ensembl
RefSeq Acc Id: ENST00000494390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,388,817 - 137,453,194 (-)Ensembl
RefSeq Acc Id: ENST00000497321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,391,155 - 137,466,035 (-)Ensembl
RefSeq Acc Id: ENST00000614521   ⟹   ENSP00000479053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,381,037 - 137,846,974 (-)Ensembl
RefSeq Acc Id: ENST00000706929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7137,609,535 - 137,610,005 (-)Ensembl
RefSeq Acc Id: NM_001321708   ⟹   NP_001308637
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,974 (-)NCBI
CHM1_17137,005,703 - 137,465,172 (-)NCBI
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321709   ⟹   NP_001308638
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,332 (-)NCBI
CHM1_17137,005,703 - 137,464,641 (-)NCBI
T2T-CHM13v2.07138,690,170 - 139,155,423 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321710   ⟹   NP_001308639
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,840 (-)NCBI
CHM1_17137,005,703 - 137,465,172 (-)NCBI
T2T-CHM13v2.07138,690,170 - 139,155,930 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001388092   ⟹   NP_001375021
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,974 (-)NCBI
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004717   ⟹   NP_004708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,387,650 - 137,846,864 (-)NCBI
GRCh377137,074,385 - 137,531,609 (-)RGD
Build 367136,724,925 - 137,182,149 (-)NCBI Archive
Celera7131,813,301 - 132,270,574 (-)RGD
HuRef7131,379,554 - 131,839,437 (-)RGD
CHM1_17137,005,703 - 137,465,172 (-)NCBI
T2T-CHM13v2.07138,696,787 - 139,155,954 (-)NCBI
CRA_TCAGchr7v27136,418,404 - 136,876,991 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_047421020   ⟹   XP_047276976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,974 (-)NCBI
RefSeq Acc Id: XM_047421021   ⟹   XP_047276977
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,974 (-)NCBI
RefSeq Acc Id: XM_047421022   ⟹   XP_047276978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,381,037 - 137,846,974 (-)NCBI
RefSeq Acc Id: XM_047421023   ⟹   XP_047276979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387137,578,271 - 137,846,974 (-)NCBI
RefSeq Acc Id: XM_054359313   ⟹   XP_054215288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBI
RefSeq Acc Id: XM_054359314   ⟹   XP_054215289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBI
RefSeq Acc Id: XM_054359315   ⟹   XP_054215290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07138,690,170 - 139,156,064 (-)NCBI
RefSeq Acc Id: XM_054359316   ⟹   XP_054215291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07138,887,215 - 139,156,064 (-)NCBI
RefSeq Acc Id: NP_004708   ⟸   NM_004717
- Peptide Label: isoform 1
- UniProtKB: A4D1Q9 (UniProtKB/Swiss-Prot),   Q9NZ49 (UniProtKB/Swiss-Prot),   O75912 (UniProtKB/Swiss-Prot),   E7EM72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308637   ⟸   NM_001321708
- Peptide Label: isoform 2
- UniProtKB: A0A087WV00 (UniProtKB/TrEMBL),   E7EM72 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308639   ⟸   NM_001321710
- Peptide Label: isoform 4
- UniProtKB: E9PFX6 (UniProtKB/TrEMBL),   Q59GE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308638   ⟸   NM_001321709
- Peptide Label: isoform 3
- UniProtKB: Q59GE2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000396078   ⟸   ENST00000424189
RefSeq Acc Id: ENSP00000392161   ⟸   ENST00000453654
RefSeq Acc Id: ENSP00000479053   ⟸   ENST00000614521
RefSeq Acc Id: ENSP00000288490   ⟸   ENST00000288490
RefSeq Acc Id: ENSP00000399131   ⟸   ENST00000446122
RefSeq Acc Id: NP_001375021   ⟸   NM_001388092
- Peptide Label: isoform 5
- UniProtKB: E7EWQ4 (UniProtKB/TrEMBL),   E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276978   ⟸   XM_047421022
- Peptide Label: isoform X3
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276977   ⟸   XM_047421021
- Peptide Label: isoform X2
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276976   ⟸   XM_047421020
- Peptide Label: isoform X1
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276979   ⟸   XM_047421023
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054215290   ⟸   XM_054359315
- Peptide Label: isoform X3
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215289   ⟸   XM_054359314
- Peptide Label: isoform X2
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215288   ⟸   XM_054359313
- Peptide Label: isoform X1
- UniProtKB: E7EM72 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215291   ⟸   XM_054359316
- Peptide Label: isoform X4
Protein Domains
DAGKc

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O75912-F1-model_v2 AlphaFold O75912 1-1065 view protein structure

Promoters
RGD ID:6805442
Promoter ID:HG_KWN:59870
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000341292,   OTTHUMT00000341293
Position:
Human AssemblyChrPosition (strand)Source
Build 367137,109,789 - 137,110,289 (-)MPROMDB
RGD ID:6805441
Promoter ID:HG_KWN:59871
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000341286,   OTTHUMT00000341288,   OTTHUMT00000341291,   OTTHUMT00000341540,   UC003VTU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367137,182,231 - 137,182,842 (-)MPROMDB
RGD ID:7212015
Promoter ID:EPDNEW_H11753
Type:multiple initiation site
Name:DGKI_1
Description:diacylglycerol kinase iota
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
GRCh387137,775,156 - 137,775,216EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2855 AgrOrtholog
COSMIC DGKI COSMIC
Ensembl Genes ENSG00000157680 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288490 ENTREZGENE
  ENST00000288490.9 UniProtKB/Swiss-Prot
  ENST00000424189 ENTREZGENE
  ENST00000424189.6 UniProtKB/TrEMBL
  ENST00000446122.5 UniProtKB/TrEMBL
  ENST00000453654 ENTREZGENE
  ENST00000453654.6 UniProtKB/TrEMBL
  ENST00000483619.1 UniProtKB/TrEMBL
  ENST00000614521 ENTREZGENE
  ENST00000614521.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.200.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.60.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000157680 GTEx
HGNC ID HGNC:2855 ENTREZGENE
Human Proteome Map DGKI Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ATP-NAD_kinase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C1_DGKiota_rpt1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C1_DGKiota_rpt2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Diacylglycerol_kin_accessory UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Diacylglycerol_kinase_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD/diacylglycerol_kinase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9162 UniProtKB/Swiss-Prot
NCBI Gene 9162 ENTREZGENE
OMIM 604072 OMIM
PANTHER DIACYLGLYCEROL KINASE IOTA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGK_acc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGK_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27316 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGKa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAGKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111331 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WV00 ENTREZGENE, UniProtKB/TrEMBL
  A0A9L9PXR3_HUMAN UniProtKB/TrEMBL
  A4D1Q9 ENTREZGENE
  DGKI_HUMAN UniProtKB/Swiss-Prot
  E7EM72 ENTREZGENE, UniProtKB/TrEMBL
  E7EWQ4 ENTREZGENE, UniProtKB/TrEMBL
  E9PFX6 ENTREZGENE, UniProtKB/TrEMBL
  O75912 ENTREZGENE
  Q59GE2 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZ49 ENTREZGENE
UniProt Secondary A4D1Q9 UniProtKB/Swiss-Prot
  Q9NZ49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 DGKI  diacylglycerol kinase iota    diacylglycerol kinase, iota  Symbol and/or name change 5135510 APPROVED