DTYMK (deoxythymidylate kinase) - Rat Genome Database

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Gene: DTYMK (deoxythymidylate kinase) Homo sapiens
Analyze
Symbol: DTYMK
Name: deoxythymidylate kinase
RGD ID: 1320047
HGNC Page HGNC:3061
Description: Enables ATP binding activity and thymidylate kinase activity. Involved in dTDP biosynthetic process and thymidine biosynthetic process. Located in mitochondrion.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CDC8; CONPM; deoxythymidylate kinase (thymidylate kinase); dTMP kinase; FLJ44192; MGC198617; PP3731; thymidylate kinase; TMPK; TYMK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,675,747 - 241,686,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,675,747 - 241,686,944 (-)EnsemblGRCh38hg38GRCh38
GRCh372242,615,162 - 242,626,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,263,830 - 242,274,900 (-)NCBINCBI36Build 36hg18NCBI36
Celera2236,286,957 - 236,298,151 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2234,370,538 - 234,381,765 (-)NCBIHuRef
CHM1_12242,621,221 - 242,632,448 (-)NCBICHM1_1
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
ADP  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bucladesine  (EXP)
buspirone  (ISO)
cadmium atom  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
diarsenic trioxide  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dieldrin  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
finasteride  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
geraniol  (EXP)
ivermectin  (EXP)
leflunomide  (EXP)
levofloxacin  (ISO)
medroxyprogesterone acetate  (EXP)
methimazole  (ISO)
methylseleninic acid  (EXP)
N-nitrosodiethylamine  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
nicotine  (EXP)
Nutlin-3  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
propiconazole  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tolcapone  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
troglitazone  (EXP,ISO)
trovafloxacin  (ISO)
tungsten  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)
mitochondrial matrix  (IEA,ISO)
mitochondrion  (HTP,IBA)
nucleus  (IBA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Activities of some enzymes of pyrimidine and DNA synthesis in a rat transplantable hepatoma and human primary hepatomas, in cell lines derived from these tissues, and in human fetal liver. Cummins RR and Balinsky D, Cancer Res. 1980 Apr;40(4):1235-9.
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. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:18469   PMID:2017365   PMID:2538159   PMID:8024690   PMID:8125298   PMID:8845311   PMID:10737800   PMID:11008000   PMID:12477932   PMID:12614151   PMID:15146197   PMID:15489334  
PMID:16103219   PMID:17643375   PMID:18413751   PMID:20467437   PMID:21873635   PMID:21988832   PMID:22658674   PMID:23535732   PMID:26186194   PMID:26344197   PMID:26972000   PMID:28514442  
PMID:28700943   PMID:29128334   PMID:30199284   PMID:30447376   PMID:31091453   PMID:31271740   PMID:31887566   PMID:32344865   PMID:32687490   PMID:33845483   PMID:33961781   PMID:34189442  
PMID:34349018   PMID:34373451   PMID:34591612   PMID:34800366   PMID:34918187   PMID:35256949   PMID:35439318   PMID:35509820   PMID:35944360   PMID:35987950   PMID:36168628   PMID:36215168  
PMID:37223481   PMID:37358701  


Genomics

Comparative Map Data
DTYMK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382241,675,747 - 241,686,815 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2241,675,747 - 241,686,944 (-)EnsemblGRCh38hg38GRCh38
GRCh372242,615,162 - 242,626,230 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362242,263,830 - 242,274,900 (-)NCBINCBI36Build 36hg18NCBI36
Celera2236,286,957 - 236,298,151 (-)NCBICelera
Cytogenetic Map2q37.3NCBI
HuRef2234,370,538 - 234,381,765 (-)NCBIHuRef
CHM1_12242,621,221 - 242,632,448 (-)NCBICHM1_1
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBIT2T-CHM13v2.0
Dtymk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39193,720,298 - 93,730,246 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl193,720,298 - 93,729,656 (-)EnsemblGRCm39 Ensembl
GRCm38193,792,576 - 93,802,068 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl193,792,576 - 93,801,934 (-)EnsemblGRCm38mm10GRCm38
MGSCv37195,689,153 - 95,698,511 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36195,630,901 - 95,632,281 (-)NCBIMGSCv36mm8
Celera196,736,573 - 96,746,015 (-)NCBICelera
Cytogenetic Map1DNCBI
cM Map147.34NCBI
Dtymk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr89101,762,899 - 101,771,733 (-)NCBIGRCr8
mRatBN7.2994,315,552 - 94,324,386 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl994,315,552 - 94,324,870 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx9102,751,029 - 102,759,863 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.09107,886,508 - 107,895,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.09106,242,614 - 106,251,356 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.09100,921,565 - 100,930,399 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl9100,921,565 - 100,930,399 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.09100,574,720 - 100,583,554 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4993,065,333 - 93,074,168 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1993,270,105 - 93,281,003 (-)NCBI
Celera991,849,852 - 91,858,636 (-)NCBICelera
Cytogenetic Map9q36NCBI
Dtymk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955542155,742 - 163,759 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955542155,741 - 163,759 (+)NCBIChiLan1.0ChiLan1.0
DTYMK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213144,384,093 - 144,395,584 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B144,398,989 - 144,410,620 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B128,952,009 - 128,963,640 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B247,740,881 - 247,752,507 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B247,740,881 - 247,752,504 (-)Ensemblpanpan1.1panPan2
DTYMK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12551,520,307 - 51,535,407 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,520,581 - 51,526,069 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2551,520,581 - 51,526,069 (-)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2551,738,743 - 51,749,088 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02551,718,398 - 51,728,728 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.12551,568,255 - 51,578,566 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02551,307,418 - 51,317,739 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02551,584,115 - 51,594,478 (-)NCBIUU_Cfam_GSD_1.0
Dtymk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303192,930,085 - 192,936,371 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936745282,199 - 289,273 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DTYMK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15140,248,079 - 140,255,805 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115140,248,071 - 140,255,803 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DTYMK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110127,722,091 - 127,733,662 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10127,721,784 - 127,733,476 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604071,588,595 - 71,600,206 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dtymk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248475,630,619 - 5,638,000 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248475,630,765 - 5,637,948 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DTYMK
23 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
Single allele deletion Intellectual disability [RCV001293367] Chr2:237201756..243048760 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000050304] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241582713-242065208)x1 copy number loss See cases [RCV000050955] Chr2:241582713..242065208 [GRCh38]
Chr2:242522128..243007359 [GRCh37]
Chr2:242170801..242656032 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1 copy number loss See cases [RCV000051120] Chr2:236555233..242126245 [GRCh38]
Chr2:237463876..243059659 [GRCh37]
Chr2:237128615..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1 copy number loss See cases [RCV000051133] Chr2:237643996..242126245 [GRCh38]
Chr2:238552639..243059659 [GRCh37]
Chr2:238217378..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1 copy number loss See cases [RCV000051163] Chr2:234345842..242126245 [GRCh38]
Chr2:235254486..243059659 [GRCh37]
Chr2:234919225..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775572-242065349)x1 copy number loss See cases [RCV000052674] Chr2:236775572..242065349 [GRCh38]
Chr2:237684215..243007500 [GRCh37]
Chr2:237348954..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1 copy number loss See cases [RCV000052675] Chr2:237526184..241996090 [GRCh38]
Chr2:238434827..242938241 [GRCh37]
Chr2:238099566..242586914 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237643996-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052700]|See cases [RCV000052700] Chr2:237643996..242065208 [GRCh38]
Chr2:238552639..243007359 [GRCh37]
Chr2:238217378..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:238939181-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052701]|See cases [RCV000052701] Chr2:238939181..242065208 [GRCh38]
Chr2:239860877..243007359 [GRCh37]
Chr2:239525814..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1 copy number loss See cases [RCV000052702] Chr2:240067206..242086301 [GRCh38]
Chr2:241006623..243028452 [GRCh37]
Chr2:240655296..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1 copy number loss See cases [RCV000052703] Chr2:240444819..242086301 [GRCh38]
Chr2:241384236..243028452 [GRCh37]
Chr2:241032909..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240506951-242065349)x1 copy number loss See cases [RCV000052704] Chr2:240506951..242065349 [GRCh38]
Chr2:241446368..243007500 [GRCh37]
Chr2:241095041..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179464-242065349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052705]|See cases [RCV000052705] Chr2:241179464..242065349 [GRCh38]
Chr2:242118879..243007500 [GRCh37]
Chr2:241767552..242656173 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241249295-242086301)x1 copy number loss See cases [RCV000052706] Chr2:241249295..242086301 [GRCh38]
Chr2:242188710..243028452 [GRCh37]
Chr2:241837383..242677125 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241179664-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052707]|See cases [RCV000052707] Chr2:241179664..242065208 [GRCh38]
Chr2:242119079..243007359 [GRCh37]
Chr2:241767752..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1 copy number loss See cases [RCV000052669] Chr2:234172536..242086301 [GRCh38]
Chr2:235081180..243028452 [GRCh37]
Chr2:234745919..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1 copy number loss See cases [RCV000052670] Chr2:234668159..242126245 [GRCh38]
Chr2:235576803..243059659 [GRCh37]
Chr2:235241542..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234906462-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052671]|See cases [RCV000052671] Chr2:234906462..242065208 [GRCh38]
Chr2:235815106..243007359 [GRCh37]
Chr2:235479845..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1 copy number loss See cases [RCV000052672] Chr2:235268768..242065208 [GRCh38]
Chr2:236177412..243007359 [GRCh37]
Chr2:235842151..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1 copy number loss See cases [RCV000052673] Chr2:235741079..242032456 [GRCh38]
Chr2:236649723..242974607 [GRCh37]
Chr2:236314462..242623280 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231375505-242065208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052639]|See cases [RCV000052639] Chr2:231375505..242065208 [GRCh38]
Chr2:232240216..243007359 [GRCh37]
Chr2:231948460..242656032 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:232857728-242065349)x1 copy number loss See cases [RCV000052640] Chr2:232857728..242065349 [GRCh38]
Chr2:233722438..243007500 [GRCh37]
Chr2:233430682..242656173 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1 copy number loss See cases [RCV000052641] Chr2:233420162..242086301 [GRCh38]
Chr2:233995840..243028452 [GRCh37]
Chr2:233704084..242677125 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1 copy number loss See cases [RCV000052642] Chr2:233453611..242099155 [GRCh38]
Chr2:234362257..243041306 [GRCh37]
Chr2:234026996..242689979 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3 copy number gain See cases [RCV000052976] Chr2:235268768..242126245 [GRCh38]
Chr2:236177412..243059659 [GRCh37]
Chr2:235842151..242717069 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3 copy number gain See cases [RCV000052977] Chr2:235563664..242086301 [GRCh38]
Chr2:236472308..243028452 [GRCh37]
Chr2:236137047..242677125 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240910571-242126392)x3 copy number gain See cases [RCV000052980] Chr2:240910571..242126392 [GRCh38]
Chr2:241849988..243059659 [GRCh37]
Chr2:241498661..242717216 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3 copy number gain See cases [RCV000052973] Chr2:227803148..242086301 [GRCh38]
Chr2:228667864..243028452 [GRCh37]
Chr2:228376108..242677125 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1 copy number loss See cases [RCV000446034] Chr2:233784243..243040217 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241522479-242126245)x3 copy number gain See cases [RCV000133843] Chr2:241522479..242126245 [GRCh38]
Chr2:242461894..243059659 [GRCh37]
Chr2:242110567..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3 copy number gain See cases [RCV000133659] Chr2:238756369..241771051 [GRCh38]
Chr2:239665010..242710466 [GRCh37]
Chr2:239329749..242359139 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:241481406-242126245)x1 copy number loss See cases [RCV000134170] Chr2:241481406..242126245 [GRCh38]
Chr2:242420821..243059659 [GRCh37]
Chr2:242069494..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1 copy number loss See cases [RCV000135842] Chr2:240171137..242065208 [GRCh38]
Chr2:241110554..243007359 [GRCh37]
Chr2:240759227..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1 copy number loss See cases [RCV000135864] Chr2:237034476..242065208 [GRCh38]
Chr2:237943119..243007359 [GRCh37]
Chr2:237607858..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1 copy number loss See cases [RCV000135570] Chr2:236966763..242065208 [GRCh38]
Chr2:237875406..243007359 [GRCh37]
Chr2:237540145..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1 copy number loss See cases [RCV000135545] Chr2:240507151..242065208 [GRCh38]
Chr2:241446568..243007359 [GRCh37]
Chr2:241095241..242656032 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1 copy number loss See cases [RCV000136566] Chr2:237232204..242065208 [GRCh38]
Chr2:238140847..243007359 [GRCh37]
Chr2:237805586..242656032 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1 copy number loss See cases [RCV000136968] Chr2:235028429..242066108 [GRCh38]
Chr2:235937073..243008259 [GRCh37]
Chr2:235601812..242656932 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1 copy number loss See cases [RCV000137069] Chr2:234835780..242065208 [GRCh38]
Chr2:235744424..243007359 [GRCh37]
Chr2:235409163..242656032 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1 copy number loss See cases [RCV000136648] Chr2:235603604..241771051 [GRCh38]
Chr2:236512248..242710466 [GRCh37]
Chr2:236176987..242359139 [NCBI36]
Chr2:2q37.2-37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1 copy number loss See cases [RCV000136686] Chr2:240067206..242126245 [GRCh38]
Chr2:241006623..243059659 [GRCh37]
Chr2:240655296..242717069 [NCBI36]
Chr2:2q37.3
pathogenic|uncertain significance
GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1 copy number loss See cases [RCV000138117] Chr2:238833519..242126245 [GRCh38]
Chr2:239742160..243059659 [GRCh37]
Chr2:239406907..242717069 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1 copy number loss See cases [RCV000138565] Chr2:240187901..242126245 [GRCh38]
Chr2:241127318..243059659 [GRCh37]
Chr2:240775991..242717069 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1 copy number loss See cases [RCV000139808] Chr2:237902870..242126251 [GRCh38]
Chr2:238811512..243059659 [GRCh37]
Chr2:238476251..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1 copy number loss See cases [RCV000139527] Chr2:236775762..242126251 [GRCh38]
Chr2:237684405..243059659 [GRCh37]
Chr2:237349144..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1 copy number loss See cases [RCV000139805] Chr2:236413722..242126251 [GRCh38]
Chr2:237322365..243059659 [GRCh37]
Chr2:236987104..242717075 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1 copy number loss See cases [RCV000140648] Chr2:240228628..242126245 [GRCh38]
Chr2:241168045..243059659 [GRCh37]
Chr2:240816718..242717069 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1 copy number loss See cases [RCV000141077] Chr2:240671231..242092126 [GRCh38]
Chr2:241610648..243034277 [GRCh37]
Chr2:241259321..242682950 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q37.3(chr2:241565848-242110155)x1 copy number loss See cases [RCV000141625] Chr2:241565848..242110155 [GRCh38]
Chr2:242505263..243052306 [GRCh37]
Chr2:242153936..242700979 [NCBI36]
Chr2:2q37.3
uncertain significance
GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1 copy number loss See cases [RCV000141661] Chr2:235846916..241841232 [GRCh38]
Chr2:236755560..242783384 [GRCh37]
Chr2:236420299..242432057 [NCBI36]
Chr2:2q37.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1 copy number loss See cases [RCV000141691] Chr2:239507342..241841232 [GRCh38]
Chr2:240429036..242783384 [GRCh37]
Chr2:240093973..242432057 [NCBI36]
Chr2:2q37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1 copy number loss See cases [RCV000142291] Chr2:234159653..241841232 [GRCh38]
Chr2:235068297..242783384 [GRCh37]
Chr2:234733036..242432057 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 copy number loss See cases [RCV000143423] Chr2:239642965..241841232 [GRCh38]
Chr2:240564659..242783384 [GRCh37]
Chr2:240229596..242432057 [NCBI36]
Chr2:2q37.3
likely pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1 copy number loss See cases [RCV000148260] Chr2:231770279..242126245 [GRCh38]
Chr2:232634989..243059659 [GRCh37]
Chr2:232343233..242717069 [NCBI36]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239873381-243006013)x3 copy number gain See cases [RCV000167564] Chr2:239873381..243006013 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:237816758-242783384)x1 copy number loss See cases [RCV000449023] Chr2:237816758..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242416476-242783384)x1 copy number loss See cases [RCV000446678] Chr2:242416476..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:237938270-242783384)x1 copy number loss See cases [RCV000446532] Chr2:237938270..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242539054-242783384)x3 copy number gain See cases [RCV000447061] Chr2:242539054..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000446061] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236285213-242783384)x1 copy number loss See cases [RCV000445750] Chr2:236285213..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1 copy number loss See cases [RCV000448540] Chr2:242045569..243040217 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:238072533-242783384)x1 copy number loss See cases [RCV000447929] Chr2:238072533..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236911223-242783384)x1 copy number loss See cases [RCV000447965] Chr2:236911223..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236577291-242783384)x1 copy number loss See cases [RCV000448691] Chr2:236577291..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1 copy number loss See cases [RCV000512077] Chr2:234495262..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240541136-242783384)x1 copy number loss See cases [RCV000510186] Chr2:240541136..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239748306-242783384)x1 copy number loss See cases [RCV000510310] Chr2:239748306..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242305098-242783384)x3 copy number gain See cases [RCV000510462] Chr2:242305098..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:235539337-242783384)x1 copy number loss See cases [RCV000511491] Chr2:235539337..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240630455-242783384)x1 copy number loss See cases [RCV000511956] Chr2:240630455..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240161377-242783384)x1 copy number loss See cases [RCV000511227] Chr2:240161377..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240141439-242783384)x3 copy number gain See cases [RCV000512298] Chr2:240141439..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:237545100-242783384)x1 copy number loss See cases [RCV000512231] Chr2:237545100..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241997911-242783384)x3 copy number gain See cases [RCV000512463] Chr2:241997911..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242016876-242783384)x1 copy number loss not provided [RCV000682102] Chr2:242016876..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241810311-242783384)x1 copy number loss not provided [RCV000682110] Chr2:241810311..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240457943-242783384)x1 copy number loss not provided [RCV000682145] Chr2:240457943..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240076138-242783384)x1 copy number loss not provided [RCV000682146] Chr2:240076138..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1 copy number loss not provided [RCV000682148] Chr2:239884390..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235790256-242783384)x1 copy number loss not provided [RCV000682160] Chr2:235790256..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3 copy number gain not provided [RCV000682161] Chr2:234716425..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238037759-243101834)x1 copy number loss not provided [RCV000740979] Chr2:238037759..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241847589-243101834)x1 copy number loss not provided [RCV000741039] Chr2:241847589..243101834 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242560241-242838636)x3 copy number gain not provided [RCV000741052] Chr2:242560241..242838636 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:240112450-242783384)x1 copy number loss not provided [RCV001005385] Chr2:240112450..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
NM_012145.4(DTYMK):c.103C>T (p.His35Tyr) single nucleotide variant not provided [RCV000904768] Chr2:241686681 [GRCh38]
Chr2:242626096 [GRCh37]
Chr2:2q37.3
benign
GRCh37/hg19 2q37.3(chr2:238795602-242918203) copy number loss Chromosome 2q37 deletion syndrome [RCV000767788] Chr2:238795602..242918203 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:239071623-243048760) copy number loss Chromosome 2q37 deletion syndrome [RCV000767789] Chr2:239071623..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237028693-242708080) copy number loss Chromosome 2q37 deletion syndrome [RCV000767787] Chr2:237028693..242708080 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:241880799-242783384)x1 copy number loss not provided [RCV001005387] Chr2:241880799..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:241404033-242684292)x1 copy number loss not provided [RCV000997728] Chr2:241404033..242684292 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1 copy number loss See cases [RCV000790569] Chr2:239894072..243048760 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1 copy number loss not provided [RCV001007522] Chr2:234791927..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3 copy number gain not provided [RCV001007519] Chr2:230814690..242783384 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:235942616-242783384)x1 copy number loss not provided [RCV002472625] Chr2:235942616..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:237265271-242783384)x3 copy number gain not provided [RCV001005380] Chr2:237265271..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242011633-243199373)x1 copy number loss not provided [RCV001005388] Chr2:242011633..243199373 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:242340265-242783384)x1 copy number loss not provided [RCV001005390] Chr2:242340265..242783384 [GRCh37]
Chr2:2q37.3
likely pathogenic
GRCh37/hg19 2q37.3(chr2:241810850-243048760)x3 copy number gain See cases [RCV001194552] Chr2:241810850..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241791028-242842568)x3 copy number gain See cases [RCV001194599] Chr2:241791028..242842568 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:239914717-242783384)x1 copy number loss not provided [RCV001005384] Chr2:239914717..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238863455-243048760)x3 copy number gain See cases [RCV001194532] Chr2:238863455..243048760 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_241808273)_(242708241_?)del deletion not provided [RCV001031165] Chr2:241808273..242708241 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242471243-242760670)x3 copy number gain not provided [RCV001259193] Chr2:242471243..242760670 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1 copy number loss Chromosome 2q37 deletion syndrome [RCV001263221] Chr2:233110452..243028452 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_012145.4(DTYMK):c.382G>A (p.Asp128Asn) single nucleotide variant Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248380] Chr2:241678598 [GRCh38]
Chr2:242618013 [GRCh37]
Chr2:2q37.3
pathogenic
NM_012145.4(DTYMK):c.242C>T (p.Pro81Leu) single nucleotide variant Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248381] Chr2:241680317 [GRCh38]
Chr2:242619732 [GRCh37]
Chr2:2q37.3
pathogenic
Single allele deletion Chromosome 2q37 deletion syndrome [RCV002247720] Chr2:236710422..242106504 [GRCh38]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242580355-242783384)x1 copy number loss not provided [RCV001827824] Chr2:242580355..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:237499041-242783384)x1 copy number loss not provided [RCV001827851] Chr2:237499041..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239436367-242783384)x1 copy number loss not provided [RCV001834263] Chr2:239436367..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:240208466-243199373)x3 copy number gain not provided [RCV001827620] Chr2:240208466..243199373 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_236877086)_(242801596_?)del deletion not provided [RCV001956380] Chr2:236877086..242801596 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NC_000002.11:g.(?_236403331)_(242801596_?)dup duplication not provided [RCV001879163] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3
uncertain significance
NC_000002.11:g.(?_238233417)_(242801596_?)del deletion D-2-hydroxyglutaric aciduria 1 [RCV003120750]|Hereditary spastic paraplegia 30 [RCV001920651]|not provided [RCV001920650] Chr2:238233417..242801596 [GRCh37]
Chr2:2q37.3
pathogenic|uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_238233417)_(242800990_?)dup duplication D-2-hydroxyglutaric aciduria 1 [RCV001918744]|Hereditary spastic paraplegia 30 [RCV001942893] Chr2:238233417..242800990 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_236403331)_(242801596_?)del deletion Bethlem myopathy 1A [RCV003113452] Chr2:236403331..242801596 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_012145.4(DTYMK):c.287_320del (p.Asp96fs) deletion Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248378] Chr2:241680239..241680272 [GRCh38]
Chr2:242619654..242619687 [GRCh37]
Chr2:2q37.3
pathogenic
NM_012145.4(DTYMK):c.295G>A (p.Ala99Thr) single nucleotide variant Neurodegeneration, childhood-onset, with progressive microcephaly [RCV002248379] Chr2:241680264 [GRCh38]
Chr2:242619679 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 copy number loss not provided [RCV002293050] Chr2:239229304..243199373 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280739] Chr2:233227837..242783384 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236472789-242783384) copy number loss Chromosome 2q37 deletion syndrome [RCV002280740] Chr2:236472789..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242379032-242783384)x1 copy number loss not provided [RCV002473812] Chr2:242379032..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236878509-242783384)x1 copy number loss not provided [RCV002473939] Chr2:236878509..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_012145.4(DTYMK):c.8C>T (p.Ala3Val) single nucleotide variant not specified [RCV004108952] Chr2:241686776 [GRCh38]
Chr2:242626191 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.52G>A (p.Gly18Arg) single nucleotide variant not specified [RCV004100802] Chr2:241686732 [GRCh38]
Chr2:242626147 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.475C>T (p.Arg159Trp) single nucleotide variant not specified [RCV004096436] Chr2:241678505 [GRCh38]
Chr2:242617920 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:242533423-242783384)x3 copy number gain not provided [RCV002475530] Chr2:242533423..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.592G>A (p.Ala198Thr) single nucleotide variant not specified [RCV004175276] Chr2:241676174 [GRCh38]
Chr2:242615589 [GRCh37]
Chr2:2q37.3
likely benign
NM_012145.4(DTYMK):c.11G>T (p.Arg4Leu) single nucleotide variant not specified [RCV004216254] Chr2:241686773 [GRCh38]
Chr2:242626188 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.86C>G (p.Ala29Gly) single nucleotide variant not specified [RCV004076021] Chr2:241686698 [GRCh38]
Chr2:242626113 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.617C>T (p.Pro206Leu) single nucleotide variant not specified [RCV004128041] Chr2:241676149 [GRCh38]
Chr2:242615564 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.364G>A (p.Val122Met) single nucleotide variant not specified [RCV004176476] Chr2:241678616 [GRCh38]
Chr2:242618031 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.542C>T (p.Ser181Phe) single nucleotide variant not specified [RCV004105071] Chr2:241676224 [GRCh38]
Chr2:242615639 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.37G>A (p.Gly13Ser) single nucleotide variant not specified [RCV004332721] Chr2:241686747 [GRCh38]
Chr2:242626162 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004263221] Chr2:241686779 [GRCh38]
Chr2:242626194 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.433G>A (p.Ala145Thr) single nucleotide variant not specified [RCV004352593] Chr2:241678547 [GRCh38]
Chr2:242617962 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.85G>T (p.Ala29Ser) single nucleotide variant not specified [RCV004339827] Chr2:241686699 [GRCh38]
Chr2:242626114 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:238460671-242783384)x1 copy number loss not provided [RCV003485294] Chr2:238460671..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:242589861-242783384)x3 copy number gain not provided [RCV003484103] Chr2:242589861..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
Single allele duplication not provided [RCV003448672] Chr2:230077026..243049549 [GRCh37]
Chr2:2q36.3-37.3
pathogenic
NM_012145.4(DTYMK):c.189G>A (p.Val63=) single nucleotide variant not provided [RCV004810035] Chr2:241685819 [GRCh38]
Chr2:242625234 [GRCh37]
Chr2:2q37.3
likely benign
NM_012145.4(DTYMK):c.513G>A (p.Thr171=) single nucleotide variant not provided [RCV003440298] Chr2:241678467 [GRCh38]
Chr2:242617882 [GRCh37]
Chr2:2q37.3
likely benign
GRCh37/hg19 2q37.3(chr2:242539055-242783384)x3 copy number gain not specified [RCV003986386] Chr2:242539055..242783384 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236057846-242783384)x1 copy number loss not specified [RCV003986344] Chr2:236057846..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q37.2-37.3(chr2:236726690-242783384)x1 copy number loss not specified [RCV003986335] Chr2:236726690..242783384 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3 copy number gain See cases [RCV004442836] Chr2:216815496..242782258 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q37.3(chr2:239671606-242782258)x1 copy number loss See cases [RCV004442769] Chr2:239671606..242782258 [GRCh37]
Chr2:2q37.3
pathogenic
NM_012145.4(DTYMK):c.239+1045_239+1050del deletion Neurodegeneration, childhood-onset, with progressive microcephaly [RCV003990313] Chr2:241684719..241684724 [GRCh38]
Chr2:242624134..242624139 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.1-37.3(chr2:235267074-242782258)x1 copy number loss See cases [RCV004442765] Chr2:235267074..242782258 [GRCh37]
Chr2:2q37.1-37.3
pathogenic
NM_012145.4(DTYMK):c.145A>C (p.Ile49Leu) single nucleotide variant not specified [RCV004379543] Chr2:241685863 [GRCh38]
Chr2:242625278 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.427C>T (p.Arg143Trp) single nucleotide variant not specified [RCV004379546] Chr2:241678553 [GRCh38]
Chr2:242617968 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.302C>G (p.Ser101Cys) single nucleotide variant not specified [RCV004379545] Chr2:241680257 [GRCh38]
Chr2:242619672 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.2-37.3(chr2:236478472-243048854)x1 copy number loss not provided [RCV004577474] Chr2:236478472..243048854 [GRCh37]
Chr2:2q37.2-37.3
pathogenic
NM_012145.4(DTYMK):c.183T>G (p.Ser61Arg) single nucleotide variant not specified [RCV004379544] Chr2:241685825 [GRCh38]
Chr2:242625240 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.593C>T (p.Ala198Val) single nucleotide variant not specified [RCV004379547] Chr2:241676173 [GRCh38]
Chr2:242615588 [GRCh37]
Chr2:2q37.3
uncertain significance
NC_000002.11:g.(?_237481970)_(242801596_?)del deletion Bethlem myopathy 1A [RCV004583694] Chr2:237481970..242801596 [GRCh37]
Chr2:2q37.3
pathogenic
NM_012145.4(DTYMK):c.25A>G (p.Ile9Val) single nucleotide variant not specified [RCV004914593] Chr2:241686759 [GRCh38]
Chr2:242626174 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.389T>G (p.Val130Gly) single nucleotide variant not specified [RCV004914595] Chr2:241678591 [GRCh38]
Chr2:242618006 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.31C>G (p.Leu11Val) single nucleotide variant not specified [RCV004914596] Chr2:241686753 [GRCh38]
Chr2:242626168 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.106C>G (p.Arg36Gly) single nucleotide variant not specified [RCV004914597] Chr2:241686678 [GRCh38]
Chr2:242626093 [GRCh37]
Chr2:2q37.3
uncertain significance
NM_012145.4(DTYMK):c.10C>T (p.Arg4Trp) single nucleotide variant not specified [RCV004914594] Chr2:241686774 [GRCh38]
Chr2:242626189 [GRCh37]
Chr2:2q37.3
uncertain significance
GRCh37/hg19 2q37.3(chr2:241644934-242783384)x1 copy number loss not provided [RCV004819334] Chr2:241644934..242783384 [GRCh37]
Chr2:2q37.3
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2180
Count of miRNA genes:768
Interacting mature miRNAs:872
Transcripts:ENST00000305784, ENST00000400770, ENST00000420144, ENST00000432348, ENST00000445261, ENST00000464603, ENST00000493095
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
RH93411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,617,881 - 242,618,051UniSTSGRCh37
Build 362242,266,554 - 242,266,724RGDNCBI36
Celera2236,289,681 - 236,289,851RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,373,262 - 234,373,432UniSTS
GeneMap99-GB4 RH Map2747.4UniSTS
G54030  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,615,436 - 242,615,557UniSTSGRCh37
Build 362242,264,109 - 242,264,230RGDNCBI36
Celera2236,287,236 - 236,287,357RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,370,817 - 234,370,938UniSTS
DTYMK_3140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,615,131 - 242,615,624UniSTSGRCh37
Build 362242,263,804 - 242,264,297RGDNCBI36
Celera2236,286,931 - 236,287,424RGD
HuRef2234,370,512 - 234,371,005UniSTS
STS-L16991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,615,325 - 242,615,554UniSTSGRCh37
Build 362242,263,998 - 242,264,227RGDNCBI36
Celera2236,287,125 - 236,287,354RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,370,706 - 234,370,935UniSTS
RH70744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372242,615,208 - 242,615,327UniSTSGRCh37
Build 362242,263,881 - 242,264,000RGDNCBI36
Celera2236,287,008 - 236,287,127RGD
Cytogenetic Map2q37.3UniSTS
HuRef2234,370,589 - 234,370,708UniSTS
GeneMap99-GB4 RH Map2747.4UniSTS
NCBI RH Map21915.5UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2434 2788 2246 4952 1724 2347 5 623 1950 464 2269 7289 6459 53 3717 849 1737 1613 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001165031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_135492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA427388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AA446104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC133781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW273041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC147006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC147010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC171903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF951595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG765702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM552707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ021114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF528035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN356277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX166352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L16991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X54729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000305784   ⟹   ENSP00000304802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,675,747 - 241,686,815 (-)Ensembl
Ensembl Acc Id: ENST00000400770   ⟹   ENSP00000383581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,675,747 - 241,686,944 (-)Ensembl
Ensembl Acc Id: ENST00000420144   ⟹   ENSP00000387379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,676,178 - 241,685,877 (-)Ensembl
Ensembl Acc Id: ENST00000432348   ⟹   ENSP00000410647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,676,123 - 241,686,742 (-)Ensembl
Ensembl Acc Id: ENST00000445261   ⟹   ENSP00000408939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,676,120 - 241,686,712 (-)Ensembl
Ensembl Acc Id: ENST00000464603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,685,116 - 241,686,781 (-)Ensembl
Ensembl Acc Id: ENST00000493095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2241,682,155 - 241,686,725 (-)Ensembl
RefSeq Acc Id: NM_001165031   ⟹   NP_001158503
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
GRCh372242,615,157 - 242,626,383 (-)ENTREZGENE
HuRef2234,370,538 - 234,381,765 (-)ENTREZGENE
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320902   ⟹   NP_001307831
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320903   ⟹   NP_001307832
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320904   ⟹   NP_001307833
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001320905   ⟹   NP_001307834
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012145   ⟹   NP_036277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
GRCh372242,615,157 - 242,626,383 (-)ENTREZGENE
Build 362242,263,830 - 242,274,900 (-)NCBI Archive
HuRef2234,370,538 - 234,381,765 (-)ENTREZGENE
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033255
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
GRCh372242,615,157 - 242,626,383 (-)ENTREZGENE
HuRef2234,370,538 - 234,381,765 (-)ENTREZGENE
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NR_135492
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,675,747 - 241,686,815 (-)NCBI
CHM1_12242,621,221 - 242,632,448 (-)NCBI
T2T-CHM13v2.02242,179,081 - 242,190,147 (-)NCBI
Sequence:
RefSeq Acc Id: NP_001158503   ⟸   NM_001165031
- Peptide Label: isoform 2
- UniProtKB: Q53F55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036277   ⟸   NM_012145
- Peptide Label: isoform 1
- UniProtKB: Q6FGX1 (UniProtKB/Swiss-Prot),   B7ZW70 (UniProtKB/Swiss-Prot),   Q9BUX4 (UniProtKB/Swiss-Prot),   P23919 (UniProtKB/Swiss-Prot),   Q6FGU2 (UniProtKB/TrEMBL),   Q53F55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307831   ⟸   NM_001320902
- Peptide Label: isoform 3
- UniProtKB: H7C312 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307832   ⟸   NM_001320903
- Peptide Label: isoform 4
- UniProtKB: P23919 (UniProtKB/Swiss-Prot),   Q53F55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307834   ⟸   NM_001320905
- Peptide Label: isoform 6
- UniProtKB: Q53F55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307833   ⟸   NM_001320904
- Peptide Label: isoform 5
- UniProtKB: Q53F55 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000383581   ⟸   ENST00000400770
Ensembl Acc Id: ENSP00000408939   ⟸   ENST00000445261
Ensembl Acc Id: ENSP00000410647   ⟸   ENST00000432348
Ensembl Acc Id: ENSP00000387379   ⟸   ENST00000420144
Ensembl Acc Id: ENSP00000304802   ⟸   ENST00000305784
Protein Domains
Thymidylate kinase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P23919-F1-model_v2 AlphaFold P23919 1-212 view protein structure

Promoters
RGD ID:6863374
Promoter ID:EPDNEW_H4852
Type:initiation region
Name:DTYMK_2
Description:deoxythymidylate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4853  EPDNEW_H4854  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,686,804 - 241,686,864EPDNEW
RGD ID:6863376
Promoter ID:EPDNEW_H4853
Type:initiation region
Name:DTYMK_3
Description:deoxythymidylate kinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4852  EPDNEW_H4854  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,687,011 - 241,687,071EPDNEW
RGD ID:6796763
Promoter ID:HG_KWN:38237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002WCB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,263,841 - 242,266,632 (-)MPROMDB
RGD ID:6797111
Promoter ID:HG_KWN:38238
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000322964
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,268,956 - 242,269,456 (-)MPROMDB
RGD ID:6797113
Promoter ID:HG_KWN:38239
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000322965
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,273,691 - 242,274,191 (-)MPROMDB
RGD ID:6797109
Promoter ID:HG_KWN:38240
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_001165031,   NR_033255,   OTTHUMT00000257266,   OTTHUMT00000322960,   OTTHUMT00000322961,   OTTHUMT00000322962,   OTTHUMT00000322963
Position:
Human AssemblyChrPosition (strand)Source
Build 362242,274,841 - 242,275,627 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3061 AgrOrtholog
COSMIC DTYMK COSMIC
Ensembl Genes ENSG00000168393 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000305784 ENTREZGENE
  ENST00000305784.7 UniProtKB/Swiss-Prot
  ENST00000400770 ENTREZGENE
  ENST00000400770.6 UniProtKB/TrEMBL
  ENST00000420144.1 UniProtKB/TrEMBL
  ENST00000432348.5 UniProtKB/TrEMBL
  ENST00000445261 ENTREZGENE
  ENST00000445261.5 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000168393 GTEx
HGNC ID HGNC:3061 ENTREZGENE
Human Proteome Map DTYMK Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thymidylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thymidylate_kin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Thymidylate_kinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1841 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1841 ENTREZGENE
OMIM 188345 OMIM
PANTHER THYMIDYLATE KINASE UniProtKB/Swiss-Prot
  THYMIDYLATE KINASE UniProtKB/Swiss-Prot
  THYMIDYLATE KINASE UniProtKB/TrEMBL
  THYMIDYLATE KINASE UniProtKB/TrEMBL
Pfam Thymidylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA150 PharmGKB
PROSITE THYMIDYLATE_KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B7ZW70 ENTREZGENE
  G5E9E9_HUMAN UniProtKB/TrEMBL
  H7BZ20_HUMAN UniProtKB/TrEMBL
  H7C312 ENTREZGENE, UniProtKB/TrEMBL
  H7C3A4_HUMAN UniProtKB/TrEMBL
  KTHY_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q53F55 ENTREZGENE, UniProtKB/TrEMBL
  Q6FGU2 ENTREZGENE, UniProtKB/TrEMBL
  Q6FGX1 ENTREZGENE
  Q9BUX4 ENTREZGENE
UniProt Secondary B7ZW70 UniProtKB/Swiss-Prot
  Q6FGX1 UniProtKB/Swiss-Prot
  Q9BUX4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-10 DTYMK  deoxythymidylate kinase    deoxythymidylate kinase (thymidylate kinase)  Symbol and/or name change 5135510 APPROVED