DCT (dopachrome tautomerase) - Rat Genome Database

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Gene: DCT (dopachrome tautomerase) Homo sapiens
Analyze
Symbol: DCT
Name: dopachrome tautomerase
RGD ID: 1342702
HGNC Page HGNC:2709
Description: Predicted to enable dopachrome isomerase activity. Involved in response to blue light. Located in intracellular membrane-bounded organelle and plasma membrane. Implicated in oculocutaneous albinism.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: dopachrome delta-isomerase; dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2); DT; L-dopachrome Delta-isomerase; L-dopachrome isomerase; L-dopachrome tautomerase; OCA8; TRP-2; TRP2; tyrosinase related protein-2; tyrosinase-related protein 2; tyrosine-related protein 2; TYRP2
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
GRCh381394,436,811 - 94,549,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1394,436,811 - 94,479,682 (-)EnsemblGRCh38hg38GRCh38
GRCh371395,089,065 - 95,201,660 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361393,889,836 - 93,929,924 (-)NCBINCBI36Build 36hg18NCBI36
Build 341393,889,839 - 93,929,924NCBI
Celera1375,940,079 - 75,980,144 (-)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1375,688,784 - 75,728,851 (-)NCBIHuRef
CHM1_11395,061,346 - 95,101,397 (-)NCBICHM1_1
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBIT2T-CHM13v2.0
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
(+)-artemisinic acid  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-palmitoylglycerol  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
5,6-dihydroxyindole-2-carboxylic acid  (ISO)
5-fluorouracil  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amentoflavone  (EXP)
arachidonic acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
carbon nanotube  (ISO)
carboplatin  (EXP)
CGP 52608  (EXP)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
colforsin daropate hydrochloride  (EXP)
cordycepin  (ISO)
Cuprizon  (ISO)
dichloroacetic acid  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
emodin  (EXP)
etoposide  (EXP)
eumelanin  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glycidol  (ISO)
isoprenaline  (ISO)
kojic acid  (ISO)
lipopolysaccharide  (EXP)
LY294002  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-beta-D-glucosamine  (EXP)
N-acetyl-D-glucosamine  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nonanedioic acid  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
propiconazole  (ISO)
quercetin  (ISO)
resorcinol  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 203580  (EXP)
scoparone  (ISO)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
Sweroside  (ISO)
tamoxifen  (ISO)
taurine  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
xylitol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1537334   PMID:7855064   PMID:7858411   PMID:7929451   PMID:8040609   PMID:8088811   PMID:8126111   PMID:8148378   PMID:8206391   PMID:8267597   PMID:8306979   PMID:8530077  
PMID:8898931   PMID:8950502   PMID:8976176   PMID:9176405   PMID:9356298   PMID:9480844   PMID:9540976   PMID:9743519   PMID:10079069   PMID:10886507   PMID:11549113   PMID:11777994  
PMID:11851878   PMID:11991713   PMID:12477932   PMID:12559959   PMID:12643545   PMID:12843792   PMID:15057823   PMID:15342556   PMID:15489334   PMID:15856458   PMID:16857183   PMID:17081065  
PMID:17200659   PMID:17766092   PMID:18206123   PMID:18312627   PMID:18337837   PMID:18674612   PMID:19284502   PMID:19855129   PMID:20221248   PMID:20356546   PMID:20520707   PMID:21873635  
PMID:22898827   PMID:22988252   PMID:24709887   PMID:25346513   PMID:27053106   PMID:28095444   PMID:28514442   PMID:28842328   PMID:28923927   PMID:31208857   PMID:31900314   PMID:32296183  
PMID:33314655   PMID:33959807   PMID:33961781   PMID:34107850   PMID:35163231   PMID:36274817   PMID:37053367   PMID:38496616  


Genomics

Comparative Map Data
DCT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381394,436,811 - 94,549,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1394,436,811 - 94,479,682 (-)EnsemblGRCh38hg38GRCh38
GRCh371395,089,065 - 95,201,660 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361393,889,836 - 93,929,924 (-)NCBINCBI36Build 36hg18NCBI36
Build 341393,889,839 - 93,929,924NCBI
Celera1375,940,079 - 75,980,144 (-)NCBICelera
Cytogenetic Map13q32.1NCBI
HuRef1375,688,784 - 75,728,851 (-)NCBIHuRef
CHM1_11395,061,346 - 95,101,397 (-)NCBICHM1_1
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBIT2T-CHM13v2.0
Dct
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914118,250,202 - 118,289,658 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14118,250,202 - 118,289,656 (-)EnsemblGRCm39 Ensembl
GRCm3814118,012,790 - 118,052,246 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14118,012,790 - 118,052,244 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714118,412,012 - 118,451,468 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614116,895,153 - 116,934,531 (-)NCBIMGSCv36mm8
Celera14116,565,242 - 116,604,520 (-)NCBICelera
Cytogenetic Map14E4NCBI
cM Map1461.6NCBI
Dct
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr815101,469,159 - 101,508,029 (-)NCBIGRCr8
mRatBN7.21595,062,006 - 95,100,863 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1595,062,003 - 95,100,836 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.015103,208,174 - 103,245,033 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl15103,208,258 - 103,244,494 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.015106,647,067 - 106,681,458 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.415102,798,699 - 102,832,240 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1593,915,976 - 93,952,737 (-)NCBICelera
Cytogenetic Map15q24NCBI
Dct
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540415,359,402 - 15,395,535 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540415,359,402 - 15,395,556 (+)NCBIChiLan1.0ChiLan1.0
DCT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21495,945,342 - 96,086,535 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11394,613,198 - 94,755,220 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01375,590,366 - 75,730,956 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11394,773,794 - 94,886,791 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1394,773,794 - 94,816,083 (-)Ensemblpanpan1.1panPan2
DCT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12245,271,709 - 45,305,272 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2245,271,709 - 45,305,346 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2245,058,426 - 45,092,104 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02245,702,218 - 45,736,012 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2245,702,218 - 45,736,086 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12245,356,018 - 45,389,781 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02245,396,691 - 45,430,530 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02245,406,488 - 45,440,246 (-)NCBIUU_Cfam_GSD_1.0
Dct
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945180,841,728 - 180,877,214 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647215,074,633 - 15,110,534 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647215,074,947 - 15,110,427 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DCT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1163,584,869 - 63,678,344 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11163,584,865 - 63,647,486 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21169,660,271 - 69,730,937 (-)NCBISscrofa10.2Sscrofa10.2susScr3
DCT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1373,246,161 - 73,315,574 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl373,274,621 - 73,313,905 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604629,653,840 - 29,766,858 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dct
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248791,241,910 - 1,279,444 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248791,241,593 - 1,346,765 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DCT
41 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 13q22.3-32.1(chr13:78349126-94701844)x1 copy number loss See cases [RCV000051379] Chr13:78349126..94701844 [GRCh38]
Chr13:78923261..95354098 [GRCh37]
Chr13:77821262..94152099 [NCBI36]
Chr13:13q22.3-32.1		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:82581008-114327173)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051380]|See cases [RCV000051380] Chr13:82581008..114327173 [GRCh38]
Chr13:83155143..115085141 [GRCh37]
Chr13:82053144..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-32.1(chr13:83947821-95128969)x1 copy number loss See cases [RCV000051414] Chr13:83947821..95128969 [GRCh38]
Chr13:84521956..95781223 [GRCh37]
Chr13:83419957..94579224 [NCBI36]
Chr13:13q31.1-32.1		 pathogenic
GRCh38/hg38 13q31.2-32.1(chr13:88260962-97285754)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051415]|See cases [RCV000051415] Chr13:88260962..97285754 [GRCh38]
Chr13:88913217..97938008 [GRCh37]
Chr13:87711218..96736009 [NCBI36]
Chr13:13q31.2-32.1		 pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:88323009-98888644)x1 copy number loss See cases [RCV000051416] Chr13:88323009..98888644 [GRCh38]
Chr13:88975264..99540898 [GRCh37]
Chr13:87773265..98338899 [NCBI36]
Chr13:13q31.2-32.3		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:89549510-96657834)x1 copy number loss See cases [RCV000051417] Chr13:89549510..96657834 [GRCh38]
Chr13:90201764..97310088 [GRCh37]
Chr13:88999765..96108089 [NCBI36]
Chr13:13q31.3-32.1		 pathogenic
GRCh38/hg38 13q31.3-34(chr13:91366227-114327314)x1 copy number loss See cases [RCV000051418] Chr13:91366227..114327314 [GRCh38]
Chr13:92018481..115085141 [GRCh37]
Chr13:90816482..114110891 [NCBI36]
Chr13:13q31.3-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93571649-97428965)x1 copy number loss See cases [RCV000051419] Chr13:93571649..97428965 [GRCh38]
Chr13:94223902..98081219 [GRCh37]
Chr13:93021903..96879220 [NCBI36]
Chr13:13q31.3-32.1		 pathogenic
GRCh38/hg38 13q31.1-33.2(chr13:82032938-106082542)x3 copy number gain See cases [RCV000051179] Chr13:82032938..106082542 [GRCh38]
Chr13:82607073..106734891 [GRCh37]
Chr13:81505074..105532892 [NCBI36]
Chr13:13q31.1-33.2		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.1(chr13:93213623-101537104)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053790]|See cases [RCV000053790] Chr13:93213623..101537104 [GRCh38]
Chr13:93865876..102189455 [GRCh37]
Chr13:92663877..100987456 [NCBI36]
Chr13:13q31.3-33.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:80628584-114327173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053772]|See cases [RCV000053772] Chr13:80628584..114327173 [GRCh38]
Chr13:81202719..115085141 [GRCh37]
Chr13:80100720..114110750 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93908109-94449189)x3 copy number gain See cases [RCV000135798] Chr13:93908109..94449189 [GRCh38]
Chr13:94560362..95101443 [GRCh37]
Chr13:93358363..93899444 [NCBI36]
Chr13:13q31.3-32.1		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.2-34(chr13:88937651-114327173)x3 copy number gain See cases [RCV000137102] Chr13:88937651..114327173 [GRCh38]
Chr13:89589905..115085141 [GRCh37]
Chr13:88387906..114110750 [NCBI36]
Chr13:13q31.2-34		 pathogenic
GRCh38/hg38 13q31.3-33.3(chr13:93345058-109458154)x1 copy number loss See cases [RCV000136688] Chr13:93345058..109458154 [GRCh38]
Chr13:93997311..110110501 [GRCh37]
Chr13:92795312..108908502 [NCBI36]
Chr13:13q31.3-33.3		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78999318-114327106)x3 copy number gain See cases [RCV000138742] Chr13:78999318..114327106 [GRCh38]
Chr13:79573453..115085141 [GRCh37]
Chr13:78471454..114110683 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:86788927-114340331)x1 copy number loss See cases [RCV000138340] Chr13:86788927..114340331 [GRCh38]
Chr13:87441182..115085141 [GRCh37]
Chr13:86239183..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q31.2-32.3(chr13:87944479-99866542)x1 copy number loss See cases [RCV000139047] Chr13:87944479..99866542 [GRCh38]
Chr13:88596734..100518796 [GRCh37]
Chr13:87394735..99316797 [NCBI36]
Chr13:13q31.2-32.3		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q31.1-34(chr13:78964223-114340331)x3 copy number gain See cases [RCV000141248] Chr13:78964223..114340331 [GRCh38]
Chr13:79538358..115085141 [GRCh37]
Chr13:78436359..114123908 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93869283-94459255)x3 copy number gain See cases [RCV000141918] Chr13:93869283..94459255 [GRCh38]
Chr13:94521536..95111509 [GRCh37]
Chr13:93319537..93909510 [NCBI36]
Chr13:13q31.3-32.1		 uncertain significance
GRCh38/hg38 13q31.1-34(chr13:83288131-114342258)x3 copy number gain See cases [RCV000141804] Chr13:83288131..114342258 [GRCh38]
Chr13:83862266..115107733 [GRCh37]
Chr13:82760267..114125835 [NCBI36]
Chr13:13q31.1-34		 pathogenic
GRCh38/hg38 13q31.3-32.1(chr13:93869706-94449189)x3 copy number gain See cases [RCV000142990] Chr13:93869706..94449189 [GRCh38]
Chr13:94521959..95101443 [GRCh37]
Chr13:93319960..93899444 [NCBI36]
Chr13:13q31.3-32.1		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1 copy number loss See cases [RCV000240161] Chr13:89796110..115083342 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94269729-115107733)x3 copy number gain See cases [RCV000447545] Chr13:94269729..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82221361-115092569)x3 copy number gain See cases [RCV000447429] Chr13:82221361..115092569 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.1(chr13:81851091-102864674)x1 copy number loss See cases [RCV000448988] Chr13:81851091..102864674 [GRCh37]
Chr13:13q31.1-33.1		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)x1 copy number loss See cases [RCV000448405] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.3-34(chr13:94474530-115107733)x1 copy number loss See cases [RCV000510535] Chr13:94474530..115107733 [GRCh37]
Chr13:13q31.3-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:80058840-115107733)x3 copy number gain See cases [RCV000510566] Chr13:80058840..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94521536-95111513)x3 copy number gain See cases [RCV000511830] Chr13:94521536..95111513 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.1-33.3(chr13:80572498-108719528)x1 copy number loss See cases [RCV000510890] Chr13:80572498..108719528 [GRCh37]
Chr13:13q31.1-33.3		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94522837-95111524)x3 copy number gain See cases [RCV000511062] Chr13:94522837..95111524 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:83435292-115107733)x3 copy number gain See cases [RCV000512605] Chr13:83435292..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85176519-115107733)x3 copy number gain See cases [RCV000512242] Chr13:85176519..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.3(chr13:94703767-109731879)x1 copy number loss not provided [RCV000683570] Chr13:94703767..109731879 [GRCh37]
Chr13:13q31.3-33.3		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78590089-115107733)x3 copy number gain not provided [RCV000683571] Chr13:78590089..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94857382-96639428)x3 copy number gain not provided [RCV000683550] Chr13:94857382..96639428 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q31.3-32.1(chr13:93348248-96975820)x3 copy number gain not provided [RCV000683560] Chr13:93348248..96975820 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001922.5(DCT):c.824G>A (p.Arg275Gln) single nucleotide variant not provided [RCV000880674] Chr13:94465672 [GRCh38]
Chr13:95117926 [GRCh37]
Chr13:13q32.1		 benign
NM_001922.5(DCT):c.509A>G (p.Asn170Ser) single nucleotide variant not provided [RCV000905424] Chr13:94468832 [GRCh38]
Chr13:95121086 [GRCh37]
Chr13:13q32.1		 likely benign
GRCh37/hg19 13q31.3-34(chr13:94849303-115107733)x3 copy number gain not provided [RCV000847710] Chr13:94849303..115107733 [GRCh37]
Chr13:13q31.3-34		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_001922.5(DCT):c.342C>T (p.Thr114=) single nucleotide variant not provided [RCV000890081] Chr13:94468999 [GRCh38]
Chr13:95121253 [GRCh37]
Chr13:13q32.1		 benign
NM_001922.5(DCT):c.176G>T (p.Gly59Val) single nucleotide variant Oculocutaneous albinism type 8 [RCV001678579] Chr13:94479080 [GRCh38]
Chr13:95131334 [GRCh37]
Chr13:13q32.1		 pathogenic
NM_001922.5(DCT):c.876C>A (p.Tyr292Ter) single nucleotide variant Oculocutaneous albinism type 8 [RCV001678580] Chr13:94462177 [GRCh38]
Chr13:95114431 [GRCh37]
Chr13:13q32.1		 pathogenic
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_001922.5(DCT):c.1407G>A (p.Trp469Ter) single nucleotide variant Oculocutaneous albinism type 8 [RCV001678581] Chr13:94440051 [GRCh38]
Chr13:95092305 [GRCh37]
Chr13:13q32.1		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94896219-96993668)x3 copy number gain not provided [RCV001006588] Chr13:94896219..96993668 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NC_000013.10:g.(?_94938593)_(95102698_?)dup duplication not provided [RCV001374140] Chr13:94938593..95102698 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NC_000013.10:g.(?_92002837)_(103343314_?)del deletion Holoprosencephaly 5 [RCV001388033] Chr13:92002837..103343314 [GRCh37]
Chr13:13q31.3-33.1		 pathogenic
Single allele deletion Distal monosomy 13q [RCV001391677] Chr13:94679977..111536145 [GRCh37]
Chr13:13q31.3-34		 pathogenic
NM_001922.5(DCT):c.118T>A (p.Cys40Ser) single nucleotide variant Albinism [RCV001270365]|Oculocutaneous albinism type 8 [RCV001290117] Chr13:94479138 [GRCh38]
Chr13:95131392 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic
NM_001922.5(DCT):c.183C>G (p.Cys61Trp) single nucleotide variant Albinism [RCV001270366]|Oculocutaneous albinism type 8 [RCV001290119] Chr13:94479073 [GRCh38]
Chr13:95131327 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic
NM_001922.5(DCT):c.1307_1320del (p.Phe435_Phe436insTer) deletion Albinism [RCV001270367]|Oculocutaneous albinism type 8 [RCV001290118] Chr13:94443497..94443510 [GRCh38]
Chr13:95095751..95095764 [GRCh37]
Chr13:13q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001922.5(DCT):c.125C>T (p.Pro42Leu) single nucleotide variant not provided [RCV001579923] Chr13:94479131 [GRCh38]
Chr13:95131385 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.856T>C (p.Cys286Arg) single nucleotide variant Inborn genetic diseases [RCV003295383] Chr13:94465640 [GRCh38]
Chr13:95117894 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:85037147-115107733) copy number gain not specified [RCV002053073] Chr13:85037147..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:79370012-115107733) copy number loss not specified [RCV002053072] Chr13:79370012..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q31.2-34(chr13:88073140-115107733) copy number loss not specified [RCV002053074] Chr13:88073140..115107733 [GRCh37]
Chr13:13q31.2-34		 pathogenic
NC_000013.10:g.(?_95034648)_(96443284_?)dup duplication not provided [RCV001920618] Chr13:95034648..96443284 [GRCh37]
Chr13:13q32.1		 uncertain significance
NC_000013.10:g.(?_93879710)_(95248390_?)del deletion not provided [RCV003116416] Chr13:93879710..95248390 [GRCh37]
Chr13:13q31.3-32.1		 pathogenic
NC_000013.10:g.(?_93879710)_(96443284_?)dup duplication not provided [RCV003116418] Chr13:93879710..96443284 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NM_001922.5(DCT):c.247C>T (p.Arg83Cys) single nucleotide variant Inborn genetic diseases [RCV003252748] Chr13:94479009 [GRCh38]
Chr13:95131263 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3 copy number gain See cases [RCV002286354] Chr13:89490345..115062235 [GRCh37]
Chr13:13q31.2-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001922.5(DCT):c.1276C>G (p.His426Asp) single nucleotide variant Inborn genetic diseases [RCV003257915] Chr13:94443541 [GRCh38]
Chr13:95095795 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.3-33.2(chr13:93535335-105788229)x1 copy number loss not provided [RCV002473593] Chr13:93535335..105788229 [GRCh37]
Chr13:13q31.3-33.2		 pathogenic
NM_001922.5(DCT):c.260C>A (p.Pro87Gln) single nucleotide variant Inborn genetic diseases [RCV002682018] Chr13:94478996 [GRCh38]
Chr13:95131250 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.334G>T (p.Gly112Cys) single nucleotide variant Inborn genetic diseases [RCV002946346] Chr13:94469007 [GRCh38]
Chr13:95121261 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.914G>A (p.Gly305Asp) single nucleotide variant Inborn genetic diseases [RCV002816985] Chr13:94462139 [GRCh38]
Chr13:95114393 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1177G>A (p.Val393Met) single nucleotide variant Inborn genetic diseases [RCV002924268] Chr13:94460093 [GRCh38]
Chr13:95112347 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.80G>A (p.Arg27Gln) single nucleotide variant Inborn genetic diseases [RCV002802495] Chr13:94479176 [GRCh38]
Chr13:95131430 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.355G>A (p.Glu119Lys) single nucleotide variant Inborn genetic diseases [RCV002827495] Chr13:94468986 [GRCh38]
Chr13:95121240 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1531A>C (p.Ser511Arg) single nucleotide variant Inborn genetic diseases [RCV002709821] Chr13:94439927 [GRCh38]
Chr13:95092181 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.833G>A (p.Arg278Lys) single nucleotide variant Inborn genetic diseases [RCV002651986] Chr13:94465663 [GRCh38]
Chr13:95117917 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.401G>A (p.Ser134Asn) single nucleotide variant Inborn genetic diseases [RCV002921613] Chr13:94468940 [GRCh38]
Chr13:95121194 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.698G>T (p.Arg233Leu) single nucleotide variant Inborn genetic diseases [RCV002987941] Chr13:94465798 [GRCh38]
Chr13:95118052 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1180-2111A>G single nucleotide variant Inborn genetic diseases [RCV002792284] Chr13:94445748 [GRCh38]
Chr13:95098002 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1553A>G (p.Glu518Gly) single nucleotide variant Inborn genetic diseases [RCV002920847] Chr13:94439905 [GRCh38]
Chr13:95092159 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1282C>T (p.Arg428Trp) single nucleotide variant Inborn genetic diseases [RCV002723661] Chr13:94443535 [GRCh38]
Chr13:95095789 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.868G>T (p.Asp290Tyr) single nucleotide variant Inborn genetic diseases [RCV003287019] Chr13:94462185 [GRCh38]
Chr13:95114439 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1027T>G (p.Ser343Ala) single nucleotide variant Inborn genetic diseases [RCV003212916] Chr13:94462026 [GRCh38]
Chr13:95114280 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.803A>G (p.Asp268Gly) single nucleotide variant Inborn genetic diseases [RCV003211998] Chr13:94465693 [GRCh38]
Chr13:95117947 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1070C>A (p.Ala357Glu) single nucleotide variant Inborn genetic diseases [RCV003189842] Chr13:94460200 [GRCh38]
Chr13:95112454 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1270A>G (p.Ile424Val) single nucleotide variant Inborn genetic diseases [RCV003185738] Chr13:94443547 [GRCh38]
Chr13:95095801 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1141G>A (p.Ala381Thr) single nucleotide variant Inborn genetic diseases [RCV003191634] Chr13:94460129 [GRCh38]
Chr13:95112383 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1125C>A (p.Phe375Leu) single nucleotide variant Inborn genetic diseases [RCV003309904] Chr13:94460145 [GRCh38]
Chr13:95112399 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.649G>A (p.Val217Ile) single nucleotide variant Inborn genetic diseases [RCV003263726] Chr13:94466605 [GRCh38]
Chr13:95118859 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.386A>T (p.Asn129Ile) single nucleotide variant not provided [RCV003331495] Chr13:94468955 [GRCh38]
Chr13:95121209 [GRCh37]
Chr13:13q32.1		 likely pathogenic
NM_001922.5(DCT):c.1403G>T (p.Gly468Val) single nucleotide variant Inborn genetic diseases [RCV003345837] Chr13:94440055 [GRCh38]
Chr13:95092309 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1221G>A (p.Met407Ile) single nucleotide variant Inborn genetic diseases [RCV003371463] Chr13:94443596 [GRCh38]
Chr13:95095850 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.1132G>T (p.Gly378Trp) single nucleotide variant Inborn genetic diseases [RCV003363378] Chr13:94460138 [GRCh38]
Chr13:95112392 [GRCh37]
Chr13:13q32.1		 uncertain significance
NM_001922.5(DCT):c.773C>T (p.Thr258Ile) single nucleotide variant Inborn genetic diseases [RCV003350068] Chr13:94465723 [GRCh38]
Chr13:95117977 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.2-33.2(chr13:89012420-106371634)x1 copy number loss not provided [RCV003483195] Chr13:89012420..106371634 [GRCh37]
Chr13:13q31.2-33.2		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1 copy number loss not provided [RCV003483192] Chr13:82131211..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3 copy number gain not provided [RCV003484899] Chr13:61534068..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q21.33-33.1(chr13:73132193-104595598)x1 copy number loss not provided [RCV003483190] Chr13:73132193..104595598 [GRCh37]
Chr13:13q21.33-33.1		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3 copy number gain not provided [RCV003484901] Chr13:73488238..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
GRCh37/hg19 13q31.3-32.1(chr13:94064930-95288392)x3 copy number gain not provided [RCV003484903] Chr13:94064930..95288392 [GRCh37]
Chr13:13q31.3-32.1		 uncertain significance
NM_001922.5(DCT):c.100A>C (p.Ser34Arg) single nucleotide variant Oculocutaneous albinism type 8 [RCV003492986] Chr13:94479156 [GRCh38]
Chr13:95131410 [GRCh37]
Chr13:13q32.1		 uncertain significance
GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1 copy number loss not specified [RCV003987038] Chr13:84669397..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3 copy number gain not specified [RCV003987023] Chr13:82876219..115107733 [GRCh37]
Chr13:13q31.1-34		 pathogenic
GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1 copy number loss not specified [RCV003987008] Chr13:49547974..98214905 [GRCh37]
Chr13:13q14.2-32.2		 pathogenic
GRCh37/hg19 13q21.31-33.1(chr13:64825656-103641349)x1 copy number loss not specified [RCV003987009] Chr13:64825656..103641349 [GRCh37]
Chr13:13q21.31-33.1		 pathogenic
NM_001922.5(DCT):c.757G>A (p.Glu253Lys) single nucleotide variant DCT-related condition [RCV003933934] Chr13:94465739 [GRCh38]
Chr13:95117993 [GRCh37]
Chr13:13q32.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1275
Count of miRNA genes:685
Interacting mature miRNAs:776
Transcripts:ENST00000377028, ENST00000446125, ENST00000472871, ENST00000483392, ENST00000490854
Prediction methods: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
D13S1166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,091,977 - 95,092,086UniSTSGRCh37
Build 361393,889,978 - 93,890,087RGDNCBI36
Celera1375,940,221 - 75,940,330RGD
Cytogenetic Map13q32UniSTS
HuRef1375,688,926 - 75,689,035UniSTS
GeneMap99-GB4 RH Map13264.51UniSTS
Whitehead-RH Map13249.8UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13837.8UniSTS
SHGC-36410  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,090,347 - 95,090,452UniSTSGRCh37
Build 361393,888,348 - 93,888,453RGDNCBI36
Celera1375,938,592 - 75,938,697RGD
Cytogenetic Map13q32UniSTS
HuRef1375,687,297 - 75,687,402UniSTS
Stanford-G3 RH Map132691.0UniSTS
NCBI RH Map13876.2UniSTS
GeneMap99-G3 RH Map132990.0UniSTS
RH80082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,090,453 - 95,090,680UniSTSGRCh37
Build 361393,888,454 - 93,888,681RGDNCBI36
Celera1375,938,698 - 75,938,925RGD
Cytogenetic Map13q32UniSTS
HuRef1375,687,403 - 75,687,630UniSTS
GeneMap99-GB4 RH Map13265.54UniSTS
RH39628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,091,997 - 95,092,206UniSTSGRCh37
Build 361393,889,998 - 93,890,207RGDNCBI36
Celera1375,940,241 - 75,940,450RGD
Cytogenetic Map13q32UniSTS
HuRef1375,688,946 - 75,689,155UniSTS
PMC108780P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,131,587 - 95,132,520UniSTSGRCh37
Build 361393,929,588 - 93,930,521RGDNCBI36
Celera1375,979,795 - 75,980,728RGD
Cytogenetic Map13q32UniSTS
HuRef1375,728,502 - 75,729,435UniSTS
SHGC-54546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,090,118 - 95,090,260UniSTSGRCh37
Build 361393,888,119 - 93,888,261RGDNCBI36
Celera1375,938,363 - 75,938,505RGD
Cytogenetic Map13q32UniSTS
HuRef1375,687,068 - 75,687,210UniSTS
TNG Radiation Hybrid Map1333985.0UniSTS
DCT__4681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371395,091,734 - 95,092,298UniSTSGRCh37
Build 361393,889,735 - 93,890,299RGDNCBI36
Celera1375,939,979 - 75,940,542RGD
HuRef1375,688,684 - 75,689,247UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 19 1
Medium 2 1 5 5 2 1108 1 8 1 4 6 5 2 569
Low 963 754 809 138 84 53 1344 609 2684 71 871 448 86 1 287 1102
Below cutoff 1347 1976 805 381 1280 311 1743 1543 986 265 432 1020 74 912 1116 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001129889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001322186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017020401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047430115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054374148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF339808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ000503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ132933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP221841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ821700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ902581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L18967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L38953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S69231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377028   ⟹   ENSP00000366227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,436,811 - 94,479,682 (-)Ensembl
RefSeq Acc Id: ENST00000446125   ⟹   ENSP00000392762
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,439,589 - 94,479,682 (-)Ensembl
RefSeq Acc Id: ENST00000472871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,465,457 - 94,479,669 (-)Ensembl
RefSeq Acc Id: ENST00000483392   ⟹   ENSP00000431275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,439,487 - 94,468,770 (-)Ensembl
RefSeq Acc Id: ENST00000490854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1394,462,121 - 94,467,955 (-)Ensembl
RefSeq Acc Id: NM_001129889   ⟹   NP_001123361
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,479,682 (-)NCBI
GRCh371395,091,835 - 95,131,936 (-)ENTREZGENE
HuRef1375,688,784 - 75,728,851 (-)ENTREZGENE
CHM1_11395,059,070 - 95,101,397 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,683,194 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322182   ⟹   NP_001309111
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
CHM1_11395,059,070 - 95,171,100 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322183   ⟹   NP_001309112
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
CHM1_11395,059,070 - 95,171,100 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322184   ⟹   NP_001309113
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
CHM1_11395,059,070 - 95,171,100 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322185   ⟹   NP_001309114
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
CHM1_11395,059,070 - 95,171,100 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001322186   ⟹   NP_001309115
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
CHM1_11395,059,070 - 95,171,100 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001922   ⟹   NP_001913
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,479,682 (-)NCBI
GRCh371395,091,835 - 95,131,936 (-)ENTREZGENE
Build 361393,889,836 - 93,929,924 (-)NCBI Archive
HuRef1375,688,784 - 75,728,851 (-)ENTREZGENE
CHM1_11395,059,070 - 95,101,397 (-)NCBI
T2T-CHM13v2.01393,640,358 - 93,683,194 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521049   ⟹   XP_011519351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,549,406 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017020401   ⟹   XP_016875890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,436,811 - 94,479,682 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047430115   ⟹   XP_047286071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,443,436 - 94,479,682 (-)NCBI
RefSeq Acc Id: XM_054374145   ⟹   XP_054230120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,640,358 - 93,752,911 (-)NCBI
RefSeq Acc Id: XM_054374146   ⟹   XP_054230121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,646,982 - 93,683,194 (-)NCBI
RefSeq Acc Id: XM_054374147   ⟹   XP_054230122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,640,358 - 93,708,480 (-)NCBI
RefSeq Acc Id: XM_054374148   ⟹   XP_054230123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01393,640,358 - 93,683,194 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001123361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309111 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309112 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309113 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001309115 (Get FASTA)   NCBI Sequence Viewer  
  NP_001913 (Get FASTA)   NCBI Sequence Viewer  
  XP_011519351 (Get FASTA)   NCBI Sequence Viewer  
  XP_016875890 (Get FASTA)   NCBI Sequence Viewer  
  XP_047286071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230120 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054230123 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA20870 (Get FASTA)   NCBI Sequence Viewer  
  AAC41925 (Get FASTA)   NCBI Sequence Viewer  
  AAC60627 (Get FASTA)   NCBI Sequence Viewer  
  AAH28311 (Get FASTA)   NCBI Sequence Viewer  
  ABG82045 (Get FASTA)   NCBI Sequence Viewer  
  ABG82046 (Get FASTA)   NCBI Sequence Viewer  
  ABG82047 (Get FASTA)   NCBI Sequence Viewer  
  ABG82048 (Get FASTA)   NCBI Sequence Viewer  
  ABG82049 (Get FASTA)   NCBI Sequence Viewer  
  ABG82050 (Get FASTA)   NCBI Sequence Viewer  
  ABG82051 (Get FASTA)   NCBI Sequence Viewer  
  ABG82052 (Get FASTA)   NCBI Sequence Viewer  
  ABG82053 (Get FASTA)   NCBI Sequence Viewer  
  ABG82054 (Get FASTA)   NCBI Sequence Viewer  
  ABG82055 (Get FASTA)   NCBI Sequence Viewer  
  ABG82056 (Get FASTA)   NCBI Sequence Viewer  
  ABG82057 (Get FASTA)   NCBI Sequence Viewer  
  ABG82058 (Get FASTA)   NCBI Sequence Viewer  
  ABG82059 (Get FASTA)   NCBI Sequence Viewer  
  ABG82060 (Get FASTA)   NCBI Sequence Viewer  
  ABG82061 (Get FASTA)   NCBI Sequence Viewer  
  ABG82062 (Get FASTA)   NCBI Sequence Viewer  
  ABG82063 (Get FASTA)   NCBI Sequence Viewer  
  ABG82064 (Get FASTA)   NCBI Sequence Viewer  
  ABG82065 (Get FASTA)   NCBI Sequence Viewer  
  ABG82066 (Get FASTA)   NCBI Sequence Viewer  
  ABG82067 (Get FASTA)   NCBI Sequence Viewer  
  ABG82068 (Get FASTA)   NCBI Sequence Viewer  
  ABG82069 (Get FASTA)   NCBI Sequence Viewer  
  ABG82070 (Get FASTA)   NCBI Sequence Viewer  
  ABG82071 (Get FASTA)   NCBI Sequence Viewer  
  ABG82072 (Get FASTA)   NCBI Sequence Viewer  
  ABG82073 (Get FASTA)   NCBI Sequence Viewer  
  ABG82074 (Get FASTA)   NCBI Sequence Viewer  
  ABG82075 (Get FASTA)   NCBI Sequence Viewer  
  ABG82076 (Get FASTA)   NCBI Sequence Viewer  
  ABG82077 (Get FASTA)   NCBI Sequence Viewer  
  ABG82078 (Get FASTA)   NCBI Sequence Viewer  
  ABG82079 (Get FASTA)   NCBI Sequence Viewer  
  ABG82080 (Get FASTA)   NCBI Sequence Viewer  
  ABG82081 (Get FASTA)   NCBI Sequence Viewer  
  ABG82082 (Get FASTA)   NCBI Sequence Viewer  
  ABG82083 (Get FASTA)   NCBI Sequence Viewer  
  ABG82084 (Get FASTA)   NCBI Sequence Viewer  
  ABG82085 (Get FASTA)   NCBI Sequence Viewer  
  ABG82086 (Get FASTA)   NCBI Sequence Viewer  
  ABG82087 (Get FASTA)   NCBI Sequence Viewer  
  ABG82088 (Get FASTA)   NCBI Sequence Viewer  
  ABG82089 (Get FASTA)   NCBI Sequence Viewer  
  ABG82090 (Get FASTA)   NCBI Sequence Viewer  
  ABG82091 (Get FASTA)   NCBI Sequence Viewer  
  ABG82092 (Get FASTA)   NCBI Sequence Viewer  
  ABG82093 (Get FASTA)   NCBI Sequence Viewer  
  ABG82094 (Get FASTA)   NCBI Sequence Viewer  
  ABG82095 (Get FASTA)   NCBI Sequence Viewer  
  ABG82096 (Get FASTA)   NCBI Sequence Viewer  
  ABG82097 (Get FASTA)   NCBI Sequence Viewer  
  ABG82098 (Get FASTA)   NCBI Sequence Viewer  
  ABG82099 (Get FASTA)   NCBI Sequence Viewer  
  ABG82100 (Get FASTA)   NCBI Sequence Viewer  
  ABG82101 (Get FASTA)   NCBI Sequence Viewer  
  ABG82102 (Get FASTA)   NCBI Sequence Viewer  
  ABG82103 (Get FASTA)   NCBI Sequence Viewer  
  ABG82104 (Get FASTA)   NCBI Sequence Viewer  
  ABG82105 (Get FASTA)   NCBI Sequence Viewer  
  ABG82106 (Get FASTA)   NCBI Sequence Viewer  
  ABG82107 (Get FASTA)   NCBI Sequence Viewer  
  ABG82108 (Get FASTA)   NCBI Sequence Viewer  
  ABG82109 (Get FASTA)   NCBI Sequence Viewer  
  ABG82110 (Get FASTA)   NCBI Sequence Viewer  
  ABG82111 (Get FASTA)   NCBI Sequence Viewer  
  ABG82112 (Get FASTA)   NCBI Sequence Viewer  
  ABG82113 (Get FASTA)   NCBI Sequence Viewer  
  ABG82114 (Get FASTA)   NCBI Sequence Viewer  
  ABG82115 (Get FASTA)   NCBI Sequence Viewer  
  ABG82116 (Get FASTA)   NCBI Sequence Viewer  
  ABG82117 (Get FASTA)   NCBI Sequence Viewer  
  ABG82118 (Get FASTA)   NCBI Sequence Viewer  
  ABG82119 (Get FASTA)   NCBI Sequence Viewer  
  ABG82120 (Get FASTA)   NCBI Sequence Viewer  
  ABG82121 (Get FASTA)   NCBI Sequence Viewer  
  ABG82122 (Get FASTA)   NCBI Sequence Viewer  
  ABG82123 (Get FASTA)   NCBI Sequence Viewer  
  ABG82124 (Get FASTA)   NCBI Sequence Viewer  
  ABG82125 (Get FASTA)   NCBI Sequence Viewer  
  ABG82126 (Get FASTA)   NCBI Sequence Viewer  
  ABG82127 (Get FASTA)   NCBI Sequence Viewer  
  ABG82128 (Get FASTA)   NCBI Sequence Viewer  
  ABG82129 (Get FASTA)   NCBI Sequence Viewer  
  ABG82130 (Get FASTA)   NCBI Sequence Viewer  
  ABG82131 (Get FASTA)   NCBI Sequence Viewer  
  ABG82132 (Get FASTA)   NCBI Sequence Viewer  
  ABG82133 (Get FASTA)   NCBI Sequence Viewer  
  ABG82134 (Get FASTA)   NCBI Sequence Viewer  
  ABG82135 (Get FASTA)   NCBI Sequence Viewer  
  ABG82136 (Get FASTA)   NCBI Sequence Viewer  
  ABG82137 (Get FASTA)   NCBI Sequence Viewer  
  ABG82138 (Get FASTA)   NCBI Sequence Viewer  
  ABG82139 (Get FASTA)   NCBI Sequence Viewer  
  ABG82140 (Get FASTA)   NCBI Sequence Viewer  
  ABG82141 (Get FASTA)   NCBI Sequence Viewer  
  ABG82142 (Get FASTA)   NCBI Sequence Viewer  
  ABG82143 (Get FASTA)   NCBI Sequence Viewer  
  ABG82144 (Get FASTA)   NCBI Sequence Viewer  
  ABG82145 (Get FASTA)   NCBI Sequence Viewer  
  ABG82146 (Get FASTA)   NCBI Sequence Viewer  
  ABG82147 (Get FASTA)   NCBI Sequence Viewer  
  ABG82148 (Get FASTA)   NCBI Sequence Viewer  
  ABG82149 (Get FASTA)   NCBI Sequence Viewer  
  ABG82150 (Get FASTA)   NCBI Sequence Viewer  
  ABG82151 (Get FASTA)   NCBI Sequence Viewer  
  ABG82152 (Get FASTA)   NCBI Sequence Viewer  
  ABG82153 (Get FASTA)   NCBI Sequence Viewer  
  ABG82154 (Get FASTA)   NCBI Sequence Viewer  
  ABG82155 (Get FASTA)   NCBI Sequence Viewer  
  ABG82156 (Get FASTA)   NCBI Sequence Viewer  
  ABG82157 (Get FASTA)   NCBI Sequence Viewer  
  ABG82158 (Get FASTA)   NCBI Sequence Viewer  
  ABG82159 (Get FASTA)   NCBI Sequence Viewer  
  ABG82160 (Get FASTA)   NCBI Sequence Viewer  
  ABI73976 (Get FASTA)   NCBI Sequence Viewer  
  BAA04484 (Get FASTA)   NCBI Sequence Viewer  
  BAA05956 (Get FASTA)   NCBI Sequence Viewer  
  BAF85804 (Get FASTA)   NCBI Sequence Viewer  
  CAA04137 (Get FASTA)   NCBI Sequence Viewer  
  CAB93530 (Get FASTA)   NCBI Sequence Viewer  
  CAB93531 (Get FASTA)   NCBI Sequence Viewer  
  EAX08937 (Get FASTA)   NCBI Sequence Viewer  
  EAX08938 (Get FASTA)   NCBI Sequence Viewer  
  EAX08939 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366227
  ENSP00000366227.4
  ENSP00000392762
  ENSP00000392762.1
  ENSP00000431275.2
GenBank Protein P40126 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001913   ⟸   NM_001922
- Peptide Label: isoform 1 precursor
- UniProtKB: Q09GT4 (UniProtKB/Swiss-Prot),   P40126 (UniProtKB/Swiss-Prot),   A8KAQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001123361   ⟸   NM_001129889
- Peptide Label: isoform 2 precursor
- UniProtKB: A8KAQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011519351   ⟸   XM_011521049
- Peptide Label: isoform X1
- UniProtKB: A8KAQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001309111   ⟸   NM_001322182
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309114   ⟸   NM_001322185
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309112   ⟸   NM_001322183
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309113   ⟸   NM_001322184
- Peptide Label: isoform 3
- Sequence:
RefSeq Acc Id: NP_001309115   ⟸   NM_001322186
- Peptide Label: isoform 4
- UniProtKB: A8KAQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016875890   ⟸   XM_017020401
- Peptide Label: isoform X3
- UniProtKB: A8KAQ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366227   ⟸   ENST00000377028
RefSeq Acc Id: ENSP00000431275   ⟸   ENST00000483392
RefSeq Acc Id: ENSP00000392762   ⟸   ENST00000446125
RefSeq Acc Id: XP_047286071   ⟸   XM_047430115
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054230120   ⟸   XM_054374145
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054230122   ⟸   XM_054374147
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054230123   ⟸   XM_054374148
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054230121   ⟸   XM_054374146
- Peptide Label: isoform X2
Protein Domains
Tyrosinase copper-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40126-F1-model_v2 AlphaFold P40126 1-519 view protein structure

Promoters
RGD ID:7226651
Promoter ID:EPDNEW_H19071
Type:initiation region
Name:DCT_1
Description:dopachrome tautomerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19073  EPDNEW_H19072  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,479,682 - 94,479,742EPDNEW
RGD ID:7226655
Promoter ID:EPDNEW_H19072
Type:single initiation site
Name:DCT_3
Description:dopachrome tautomerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19071  EPDNEW_H19073  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,500,331 - 94,500,391EPDNEW
RGD ID:7226653
Promoter ID:EPDNEW_H19073
Type:initiation region
Name:DCT_2
Description:dopachrome tautomerase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19071  EPDNEW_H19072  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381394,549,391 - 94,549,451EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2709 AgrOrtholog
COSMIC DCT COSMIC
Ensembl Genes ENSG00000080166 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377028 ENTREZGENE
  ENST00000377028.10 UniProtKB/Swiss-Prot
  ENST00000446125 ENTREZGENE
  ENST00000446125.1 UniProtKB/Swiss-Prot
  ENST00000483392.6 UniProtKB/TrEMBL
Gene3D-CATH 1.10.1280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080166 GTEx
HGNC ID HGNC:2709 ENTREZGENE
Human Proteome Map DCT Human Proteome Map
InterPro Tyrosinase_Cu-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unchr_di-copper_centre UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1638 UniProtKB/Swiss-Prot
NCBI Gene 1638 ENTREZGENE
OMIM 191275 OMIM
PANTHER L-DOPACHROME TAUTOMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINASE FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tyrosinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27179 PharmGKB
PRINTS TYROSINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TYROSINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TYROSINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48056 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTD3_HUMAN UniProtKB/TrEMBL
  A8KAQ0 ENTREZGENE, UniProtKB/TrEMBL
  P40126 ENTREZGENE
  Q09GT4 ENTREZGENE
  Q0PK43_HUMAN UniProtKB/TrEMBL
  TYRP2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q09GT4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-02 DCT  dopachrome tautomerase  DCT  dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)  Symbol and/or name change 5135510 APPROVED