DLG1 (discs large MAGUK scaffold protein 1) - Rat Genome Database

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Advanced Search (OLGA)
Gene: DLG1 (discs large MAGUK scaffold protein 1) Homo sapiens
Analyze
Symbol: DLG1
Name: discs large MAGUK scaffold protein 1
RGD ID: 731903
HGNC Page HGNC:2900
Description: Enables several functions, including L27 domain binding activity; enzyme binding activity; and transmembrane transporter binding activity. Involved in several processes, including cytoskeleton organization; negative regulation of MAPK cascade; and regulation of protein localization. Located in several cellular components, including basolateral plasma membrane; bicellular tight junction; and immunological synapse. Part of MPP7-DLG1-LIN7 complex. Implicated in invasive ductal carcinoma. Biomarker of cervix uteri carcinoma in situ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: discs large homolog 1; discs large homolog 1, scribble cell polarity complex component; discs, large homolog 1; discs, large homolog 1 (Drosophila) transcript variant 6-v1; discs, large homolog 1 (Drosophila) transcript variant 6-v2; discs, large homolog 1 transcript variant 6-v1; discs, large homolog 1 transcript variant 6-v2; disks large homolog 1; dJ1061C18.1.1; DKFZp761P0818; DKFZp781B0426; DLGH1; hdlg; presynaptic protein SAP97; SAP-97; SAP97; synapse-associated protein 97
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
GRCh383197,042,560 - 197,299,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3197,042,560 - 197,299,330 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,769,431 - 197,026,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,253,828 - 198,509,844 (-)NCBINCBI36Build 36hg18NCBI36
Build 343198,259,732 - 198,513,757NCBI
Celera3195,354,807 - 195,610,760 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3194,068,872 - 194,324,699 (-)NCBIHuRef
CHM1_13196,740,135 - 196,996,273 (-)NCBICHM1_1
T2T-CHM13v2.03199,768,533 - 200,020,586 (-)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
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dimethoxyphenol  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
bisphenol F  (EXP)
Brodifacoum  (ISO)
Butylparaben  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcidiol  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cobalt dichloride  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (ISO)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
finasteride  (ISO)
fipronil  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
furfural  (EXP)
geldanamycin  (EXP)
gentamycin  (ISO)
hemin  (EXP)
hydrogen peroxide  (EXP)
indometacin  (EXP)
inulin  (ISO)
irinotecan  (EXP)
ivermectin  (EXP)
lead diacetate  (EXP)
lead(0)  (EXP)
linuron  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
minocycline  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
nicotinamide  (ISO)
okadaic acid  (ISO)
oxaliplatin  (ISO)
oxidopamine  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
pexidartinib  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pioglitazone  (EXP)
poly(I:C)  (ISO)
potassium chromate  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sulforaphane  (ISO)
sulindac  (ISO)
teprenone  (ISO)
tert-butyl hydroperoxide  (EXP)
theophylline  (EXP)
thimerosal  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IDA)
actin filament polymerization  (IEA,ISO)
activation of protein kinase activity  (ISO)
amyloid precursor protein metabolic process  (IEA,ISO)
astral microtubule organization  (IMP)
bicellular tight junction assembly  (IDA)
branching involved in ureteric bud morphogenesis  (IEA,ISO)
cell adhesion  (ISO)
cell population proliferation  (IEA,ISO)
cell-cell adhesion  (IBA,IDA)
cellular response to brain-derived neurotrophic factor stimulus  (ISO)
cerebral cortex development  (ISO)
chemical synaptic transmission  (IBA,IEA)
cortical actin cytoskeleton organization  (IDA)
cortical microtubule organization  (IMP)
embryonic skeletal system morphogenesis  (IEA,ISO)
endothelial cell proliferation  (IDA)
epithelial structure maintenance  (ISO)
establishment of centrosome localization  (IMP)
establishment or maintenance of cell polarity  (TAS)
establishment or maintenance of epithelial cell apical/basal polarity  (IBA,NAS)
GDP metabolic process  (IEA)
GMP metabolic process  (IEA)
hard palate development  (IEA,ISO)
immunological synapse formation  (IEA,ISO)
lens development in camera-type eye  (IEA,ISO)
maintenance of postsynaptic density structure  (IEA)
membrane raft organization  (IEA,ISO)
membrane repolarization during ventricular cardiac muscle cell action potential  (IEA,ISS)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of ERK1 and ERK2 cascade  (IMP)
negative regulation of G1/S transition of mitotic cell cycle  (IMP)
negative regulation of p38MAPK cascade  (IMP)
negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
negative regulation of T cell proliferation  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
nervous system development  (IBA)
neurotransmitter receptor localization to postsynaptic specialization membrane  (IEA)
peristalsis  (IEA,ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISO)
positive regulation of actin filament polymerization  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of gene expression  (ISO)
positive regulation of potassium ion transport  (IDA,ISO)
positive regulation of protein localization to plasma membrane  (IDA)
protein localization  (IEA,ISO)
protein localization to plasma membrane  (IMP,TAS)
protein localization to synapse  (IBA)
protein-containing complex localization  (IMP)
receptor clustering  (IBA)
receptor localization to synapse  (IBA)
regulation of cell shape  (IMP)
regulation of membrane potential  (IDA,IEA,ISO)
regulation of myelination  (IEA,ISO)
regulation of non-canonical NF-kappaB signal transduction  (IMP)
regulation of postsynaptic membrane neurotransmitter receptor levels  (IBA)
regulation of potassium ion export across plasma membrane  (IEA,ISS)
regulation of potassium ion import  (IEA,ISS)
regulation of protein localization  (ISO)
regulation of protein localization to synapse  (IDA,IEA)
regulation of sodium ion transmembrane transport  (TAS)
regulation of ventricular cardiac muscle cell action potential  (IEA,ISS)
reproductive structure development  (IEA,ISO)
smooth muscle tissue development  (IEA,ISO)
T cell activation  (IEA,ISO)
T cell proliferation  (IEA,ISO)
tissue morphogenesis  (IEA,ISO)
ureteric bud development  (IEA,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
E-cadherin signaling pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
T cell receptor signaling pathway  (IEA)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Differential expression of the human homologue of drosophila discs large oncosuppressor in histologic samples from human papillomavirus-associated lesions as a marker for progression to malignancy. Cavatorta AL, etal., Int J Cancer. 2004 Sep 1;111(3):373-80.
2. CaMKII regulation in information processing and storage. Coultrap SJ and Bayer KU, Trends Neurosci. 2012 Oct;35(10):607-18. doi: 10.1016/j.tins.2012.05.003. Epub 2012 Jun 19.
3. Somatic mutations and altered expression of the candidate tumor suppressors CSNK1 epsilon, DLG1, and EDD/hHYD in mammary ductal carcinoma. Fuja TJ, etal., Cancer Res. 2004 Feb 1;64(3):942-51.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Subcellular redistribution of the synapse-associated proteins PSD-95 and SAP97 in animal models of Parkinson's disease and L-DOPA-induced dyskinesia. Nash JE, etal., FASEB J. 2005 Apr;19(6):583-5. Epub 2005 Feb 9.
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:5024025   PMID:7477295   PMID:7937897   PMID:8601796   PMID:8638125   PMID:8825652   PMID:8889548   PMID:8922391   PMID:8938729   PMID:9024696   PMID:9115257   PMID:9148889  
PMID:9192623   PMID:9286858   PMID:9326658   PMID:9341123   PMID:9512503   PMID:9621517   PMID:9677374   PMID:9756850   PMID:9786987   PMID:9808460   PMID:10336672   PMID:10523825  
PMID:10595517   PMID:10619846   PMID:10646847   PMID:10656683   PMID:10698489   PMID:10779557   PMID:10788497   PMID:10859302   PMID:10939335   PMID:10993877   PMID:11060025   PMID:11134026  
PMID:11140673   PMID:11181181   PMID:11274188   PMID:11279111   PMID:11439092   PMID:11440998   PMID:11567040   PMID:11571640   PMID:11572861   PMID:11602598   PMID:11707428   PMID:11723125  
PMID:11726633   PMID:11807220   PMID:11997254   PMID:12050163   PMID:12067714   PMID:12070168   PMID:12081647   PMID:12097473   PMID:12151521   PMID:12175853   PMID:12189141   PMID:12351654  
PMID:12419826   PMID:12444549   PMID:12477932   PMID:12507520   PMID:12511555   PMID:12668732   PMID:12713445   PMID:12763866   PMID:12766944   PMID:12807908   PMID:12857860   PMID:12860415  
PMID:12902344   PMID:12933808   PMID:12970345   PMID:14529713   PMID:14699157   PMID:14960569   PMID:15021905   PMID:15024025   PMID:15286176   PMID:15302935   PMID:15485825   PMID:15507623  
PMID:15669058   PMID:15673434   PMID:15699074   PMID:15729360   PMID:16103886   PMID:16228013   PMID:16316992   PMID:16332687   PMID:16466689   PMID:16473877   PMID:16482544   PMID:16519681  
PMID:16619250   PMID:16637659   PMID:16825666   PMID:17069616   PMID:17172448   PMID:17237226   PMID:17301176   PMID:17332497   PMID:17574238   PMID:17696365   PMID:17713926   PMID:17938206  
PMID:17947517   PMID:17980554   PMID:18245566   PMID:18311135   PMID:18461433   PMID:18665322   PMID:18725271   PMID:18760273   PMID:18793635   PMID:18930083   PMID:18946087   PMID:18951956  
PMID:19017653   PMID:19066288   PMID:19086053   PMID:19118189   PMID:19213956   PMID:19307009   PMID:19555689   PMID:19586902   PMID:19615732   PMID:19841189   PMID:20201926   PMID:20356847  
PMID:20379614   PMID:20398908   PMID:20458337   PMID:20551903   PMID:20605917   PMID:20643107   PMID:20691406   PMID:20702775   PMID:20980075   PMID:21041448   PMID:21113079   PMID:21119615  
PMID:21164104   PMID:21489588   PMID:21525870   PMID:21595829   PMID:21615688   PMID:21762802   PMID:21849460   PMID:21850710   PMID:21858148   PMID:21873635   PMID:21901101   PMID:22004035  
PMID:22027822   PMID:22185284   PMID:22225629   PMID:22272285   PMID:22307621   PMID:22377151   PMID:22378744   PMID:22383878   PMID:22434720   PMID:22657348   PMID:22745667   PMID:22792261  
PMID:22898364   PMID:23185543   PMID:23397623   PMID:23532850   PMID:23576434   PMID:23624197   PMID:23676497   PMID:23782696   PMID:23864692   PMID:24324269   PMID:24366813   PMID:24503895  
PMID:24550280   PMID:24788832   PMID:24937328   PMID:24989932   PMID:25085501   PMID:25147182   PMID:25241761   PMID:25253337   PMID:25268382   PMID:25275262   PMID:25429624   PMID:25447080  
PMID:25468996   PMID:25499266   PMID:25659891   PMID:25720117   PMID:25852190   PMID:25921289   PMID:26053890   PMID:26186194   PMID:26440542   PMID:26496610   PMID:26617989   PMID:26638075  
PMID:26653181   PMID:27018634   PMID:27026592   PMID:27240320   PMID:27416801   PMID:27684187   PMID:27760079   PMID:27880917   PMID:28040505   PMID:28195572   PMID:28244171   PMID:28514442  
PMID:28611215   PMID:28652577   PMID:28675297   PMID:28720576   PMID:28926086   PMID:28990294   PMID:29099056   PMID:29168728   PMID:29212245   PMID:29263038   PMID:29395067   PMID:29509190  
PMID:29568061   PMID:29791485   PMID:29961565   PMID:29987050   PMID:30021884   PMID:30126976   PMID:30344098   PMID:30401746   PMID:30442766   PMID:30517074   PMID:30585266   PMID:30639242  
PMID:31324722   PMID:31527615   PMID:31586073   PMID:31822558   PMID:31871319   PMID:31980649   PMID:32129710   PMID:32149426   PMID:32203420   PMID:32224225   PMID:32264889   PMID:32293058  
PMID:32411799   PMID:32460013   PMID:32612162   PMID:32687490   PMID:32692143   PMID:32707033   PMID:32780723   PMID:33397691   PMID:33486056   PMID:33845483   PMID:33945310   PMID:33957083  
PMID:33961781   PMID:34079125   PMID:34349018   PMID:34400226   PMID:34672954   PMID:34911533   PMID:35022314   PMID:35039052   PMID:35063084   PMID:35163460   PMID:35271311   PMID:35337019  
PMID:35380688   PMID:35384245   PMID:35575683   PMID:35831314   PMID:35844135   PMID:35914814   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36237976   PMID:36526897   PMID:36652389  
PMID:36830709   PMID:36976175   PMID:37232246   PMID:37288673   PMID:37616343   PMID:37644438   PMID:38117590   PMID:38280479   PMID:38341127   PMID:38777146   PMID:38891874   PMID:39231216  


Genomics

Comparative Map Data
DLG1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383197,042,560 - 197,299,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3197,042,560 - 197,299,330 (-)EnsemblGRCh38hg38GRCh38
GRCh373196,769,431 - 197,026,192 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363198,253,828 - 198,509,844 (-)NCBINCBI36Build 36hg18NCBI36
Build 343198,259,732 - 198,513,757NCBI
Celera3195,354,807 - 195,610,760 (-)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3194,068,872 - 194,324,699 (-)NCBIHuRef
CHM1_13196,740,135 - 196,996,273 (-)NCBICHM1_1
T2T-CHM13v2.03199,768,533 - 200,020,586 (-)NCBIT2T-CHM13v2.0
Dlg1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391631,482,261 - 31,692,174 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1631,482,261 - 31,693,947 (+)EnsemblGRCm39 Ensembl
GRCm381631,663,443 - 31,873,356 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1631,663,443 - 31,875,129 (+)EnsemblGRCm38mm10GRCm38
MGSCv371631,664,125 - 31,873,432 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361631,583,786 - 31,793,093 (+)NCBIMGSCv36mm8
Celera1632,162,337 - 32,367,214 (+)NCBICelera
Cytogenetic Map16B2NCBI
cM Map1622.4NCBI
Dlg1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81182,416,853 - 82,607,797 (-)NCBIGRCr8
mRatBN7.21168,911,883 - 69,103,230 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1168,911,883 - 69,102,689 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_WKY_Bbb_1.0PNS010000782.1738 - 5,614 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
UTH_Rnor_WKY_Bbb_1.0PNS010000869.13,863 - 29,596 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01172,164,566 - 72,378,895 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1172,163,749 - 72,378,895 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01175,389,409 - 75,454,358 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.01175,239,783 - 75,349,409 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,735,283 - 70,930,374 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11170,792,871 - 70,987,963 (-)NCBI
Celera1168,335,260 - 68,524,109 (-)NCBICelera
Cytogenetic Map11q22NCBI
Dlg1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542013,068,289 - 13,273,805 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542013,068,289 - 13,273,805 (-)NCBIChiLan1.0ChiLan1.0
DLG1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,912,403 - 195,173,774 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,917,123 - 195,178,690 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03194,386,263 - 194,648,015 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13204,319,410 - 204,586,232 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3204,323,724 - 204,584,987 (-)Ensemblpanpan1.1panPan2
DLG1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13330,016,323 - 30,253,180 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3330,016,600 - 30,253,547 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3330,039,726 - 30,276,522 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03330,264,744 - 30,502,044 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3330,264,748 - 30,501,362 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13330,059,072 - 30,295,858 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03330,096,091 - 30,333,239 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,717,286 - 30,954,124 (-)NCBIUU_Cfam_GSD_1.0
Dlg1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602143,094,725 - 143,350,067 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936833551,799 - 844,121 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936833551,989 - 843,064 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DLG1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13132,820,870 - 133,086,841 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113132,819,931 - 133,084,880 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213142,336,324 - 142,629,113 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DLG1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11589,937,900 - 90,214,976 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,055,964 - 90,215,652 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604163,711,831 - 63,988,641 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dlg1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473062,002,280 - 62,223,319 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473062,001,547 - 62,223,098 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DLG1
103 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004087.2(DLG1):c.483+8355G>T single nucleotide variant Lung cancer [RCV000093450] Chr3:197186070 [GRCh38]
Chr3:196912941 [GRCh37]
Chr3:3q29		 uncertain significance
NM_004087.2(DLG1):c.318+25892T>C single nucleotide variant Lung cancer [RCV000093452] Chr3:197256787 [GRCh38]
Chr3:196983658 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196280954-197590232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053126]|See cases [RCV000053126] Chr3:196280954..197590232 [GRCh38]
Chr3:196007825..197317103 [GRCh37]
Chr3:197492222..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
NM_004087.2(DLG1):c.2043C>T (p.Ser681=) single nucleotide variant Malignant melanoma [RCV000065997] Chr3:197076647 [GRCh38]
Chr3:196803518 [GRCh37]
Chr3:198287915 [NCBI36]
Chr3:3q29		 not provided
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:196812829-197938552)x3 copy number gain See cases [RCV000138900] Chr3:196812829..197938552 [GRCh38]
Chr3:196539700..197665423 [GRCh37]
Chr3:198024097..199149820 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196832991-197182319)x3 copy number gain See cases [RCV000141425] Chr3:196832991..197182319 [GRCh38]
Chr3:196559862..196909190 [GRCh37]
Chr3:198044259..198393587 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196841258-197590173)x3 copy number gain See cases [RCV000141426] Chr3:196841258..197590173 [GRCh38]
Chr3:196568129..197317044 [GRCh37]
Chr3:198052526..198801441 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:197098993-197658495)x3 copy number gain See cases [RCV000141029] Chr3:197098993..197658495 [GRCh38]
Chr3:196825864..197385366 [GRCh37]
Chr3:198310261..198869763 [NCBI36]
Chr3:3q29		 benign
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196418334-198125115)x3 copy number gain See cases [RCV000141811] Chr3:196418334..198125115 [GRCh38]
Chr3:196145205..197851986 [GRCh37]
Chr3:197629602..199336383 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:196281672-197681798)x3 copy number gain See cases [RCV000239963] Chr3:196281672..197681798 [GRCh37]
Chr3:3q29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.2048-22_2048-4del deletion Mendelian syndromes with cleft lip/palate [RCV003315097] Chr3:197066758..197066776 [GRCh38]
Chr3:196793629..196793647 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196892527-197299752)x3 copy number gain See cases [RCV000447573] Chr3:196892527..197299752 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366207.1(DLG1):c.73A>G (p.Thr25Ala) single nucleotide variant not specified [RCV004283953] Chr3:197296424 [GRCh38]
Chr3:197023295 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1517T>C (p.Val506Ala) single nucleotide variant not specified [RCV004313178] Chr3:197104932 [GRCh38]
Chr3:196831803 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_001366207.1(DLG1):c.406C>G (p.His136Asp) single nucleotide variant not specified [RCV004329809] Chr3:197194502 [GRCh38]
Chr3:196921373 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196586363-196952733)x3 copy number gain not provided [RCV000682359] Chr3:196586363..196952733 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196812588-197344176)x3 copy number gain not provided [RCV000682360] Chr3:196812588..197344176 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q29(chr3:196884570-197344176)x3 copy number gain not provided [RCV000682361] Chr3:196884570..197344176 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196910160-196938331)x1 copy number loss not provided [RCV000743120] Chr3:196910160..196938331 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:196933486-196939322)x1 copy number loss not provided [RCV000743121] Chr3:196933486..196939322 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.2575+9C>T single nucleotide variant not provided [RCV000916689] Chr3:197051568 [GRCh38]
Chr3:196778439 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_001366207.1(DLG1):c.1410T>C (p.Ser470=) single nucleotide variant DLG1-related disorder [RCV003905898]|not provided [RCV000965662] Chr3:197115960 [GRCh38]
Chr3:196842831 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.825A>C (p.Lys275Asn) single nucleotide variant not specified [RCV004291609] Chr3:197138280 [GRCh38]
Chr3:196865151 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:197015960-197344176)x3 copy number gain not provided [RCV000847644] Chr3:197015960..197344176 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196752710-196793335)x3 copy number gain not provided [RCV000849477] Chr3:196752710..196793335 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.501A>T (p.Val167=) single nucleotide variant not provided [RCV000927798] Chr3:197149779 [GRCh38]
Chr3:196876650 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.1899T>G (p.Asp633Glu) single nucleotide variant not provided [RCV000973172] Chr3:197081057 [GRCh38]
Chr3:196807928 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.786G>A (p.Ala262=) single nucleotide variant not provided [RCV000965663] Chr3:197138319 [GRCh38]
Chr3:196865190 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:196592131-196919105)x3 copy number gain not provided [RCV001005504] Chr3:196592131..196919105 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196381502-196771786)x3 copy number gain not provided [RCV001249434] Chr3:196381502..196771786 [GRCh37]
Chr3:3q29		 not provided
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196552734-197498996)x3 copy number gain not provided [RCV001259833] Chr3:196552734..197498996 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195993691-197851986)x3 copy number gain not provided [RCV001827845] Chr3:195993691..197851986 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:196897651-197081796)x1 copy number loss not provided [RCV001829048] Chr3:196897651..197081796 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.755G>A (p.Arg252His) single nucleotide variant not specified [RCV004310388] Chr3:197138350 [GRCh38]
Chr3:196865221 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.277A>G (p.Thr93Ala) single nucleotide variant not specified [RCV004144194] Chr3:197282720 [GRCh38]
Chr3:197009591 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1058A>C (p.Glu353Ala) single nucleotide variant not specified [RCV004240471] Chr3:197130634 [GRCh38]
Chr3:196857505 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2531A>G (p.Glu844Gly) single nucleotide variant not specified [RCV004177806] Chr3:197051621 [GRCh38]
Chr3:196778492 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2316G>T (p.Gln772His) single nucleotide variant not specified [RCV004155940] Chr3:197065333 [GRCh38]
Chr3:196792204 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1322C>G (p.Thr441Arg) single nucleotide variant not specified [RCV004224091] Chr3:197116048 [GRCh38]
Chr3:196842919 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1348G>A (p.Gly450Arg) single nucleotide variant not specified [RCV004175877] Chr3:197116022 [GRCh38]
Chr3:196842893 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.701A>G (p.Asp234Gly) single nucleotide variant not specified [RCV004184303] Chr3:197140152 [GRCh38]
Chr3:196867023 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1898A>G (p.Asp633Gly) single nucleotide variant not specified [RCV004234703] Chr3:197081058 [GRCh38]
Chr3:196807929 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1895G>C (p.Arg632Thr) single nucleotide variant not specified [RCV004168257] Chr3:197081061 [GRCh38]
Chr3:196807932 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2590G>A (p.Asp864Asn) single nucleotide variant not specified [RCV004180677] Chr3:197044715 [GRCh38]
Chr3:196771586 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2014A>G (p.Thr672Ala) single nucleotide variant not specified [RCV004119992] Chr3:197069252 [GRCh38]
Chr3:196796123 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.359A>G (p.His120Arg) single nucleotide variant DLG1-related disorder [RCV003396828]|not specified [RCV004177555] Chr3:197194549 [GRCh38]
Chr3:196921420 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1631G>A (p.Arg544Gln) single nucleotide variant not specified [RCV004224744] Chr3:197090942 [GRCh38]
Chr3:196817813 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2324A>G (p.Asn775Ser) single nucleotide variant not specified [RCV004215573] Chr3:197065325 [GRCh38]
Chr3:196792196 [GRCh37]
Chr3:3q29		 uncertain significance
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2479A>G (p.Ile827Val) single nucleotide variant not specified [RCV004273364] Chr3:197059893 [GRCh38]
Chr3:196786764 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.2324A>C (p.Asn775Thr) single nucleotide variant not specified [RCV004285297] Chr3:197065325 [GRCh38]
Chr3:196792196 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.39C>A (p.His13Gln) single nucleotide variant not specified [RCV004283053] Chr3:197296458 [GRCh38]
Chr3:197023329 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.515A>G (p.Asp172Gly) single nucleotide variant not specified [RCV004249081] Chr3:197149765 [GRCh38]
Chr3:196876636 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.480A>G (p.Ile160Met) single nucleotide variant not specified [RCV004273839] Chr3:197194428 [GRCh38]
Chr3:196921299 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2498G>A (p.Arg833His) single nucleotide variant not specified [RCV004259379] Chr3:197051654 [GRCh38]
Chr3:196778525 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2359G>A (p.Glu787Lys) single nucleotide variant not specified [RCV004312741] Chr3:197065290 [GRCh38]
Chr3:196792161 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1303G>C (p.Val435Leu) single nucleotide variant not specified [RCV004361085] Chr3:197116067 [GRCh38]
Chr3:196842938 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.172G>T (p.Val58Leu) single nucleotide variant not specified [RCV004356622] Chr3:197282825 [GRCh38]
Chr3:197009696 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:196190723-197605588)x3 copy number gain not provided [RCV003484163] Chr3:196190723..197605588 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.2629A>C (p.Ile877Leu) single nucleotide variant DLG1-related disorder [RCV003412469] Chr3:197044676 [GRCh38]
Chr3:196771547 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1832A>T (p.Lys611Ile) single nucleotide variant DLG1-related disorder [RCV003406142] Chr3:197085586 [GRCh38]
Chr3:196812457 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1165+4059dup duplication not provided [RCV003434905] Chr3:197126467..197126468 [GRCh38]
Chr3:196853338..196853339 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.2007G>C (p.Gln669His) single nucleotide variant DLG1-related disorder [RCV003402170] Chr3:197069259 [GRCh38]
Chr3:196796130 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:196657995-197656512)x1 copy number loss not specified [RCV003986431] Chr3:196657995..197656512 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1017A>G (p.Leu339=) single nucleotide variant DLG1-related disorder [RCV003917325] Chr3:197136545 [GRCh38]
Chr3:196863416 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.1450A>G (p.Ser484Gly) single nucleotide variant not specified [RCV004376067] Chr3:197104999 [GRCh38]
Chr3:196831870 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1697G>T (p.Gly566Val) single nucleotide variant not specified [RCV004376068] Chr3:197085721 [GRCh38]
Chr3:196812592 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.785C>T (p.Ala262Val) single nucleotide variant DLG1-related disorder [RCV003926823] Chr3:197138320 [GRCh38]
Chr3:196865191 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.1191T>C (p.His397=) single nucleotide variant DLG1-related disorder [RCV003926871] Chr3:197119505 [GRCh38]
Chr3:196846376 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.118A>G (p.Ile40Val) single nucleotide variant not specified [RCV004376065] Chr3:197296379 [GRCh38]
Chr3:197023250 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2548G>A (p.Glu850Lys) single nucleotide variant not specified [RCV004376069] Chr3:197051604 [GRCh38]
Chr3:196778475 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2670A>C (p.Lys890Asn) single nucleotide variant not specified [RCV004376070] Chr3:197044635 [GRCh38]
Chr3:196771506 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.518G>T (p.Ser173Ile) single nucleotide variant not specified [RCV004376074] Chr3:197149762 [GRCh38]
Chr3:196876633 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.906A>C (p.Gly302=) single nucleotide variant DLG1-related disorder [RCV003927151] Chr3:197136656 [GRCh38]
Chr3:196863527 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.1195A>C (p.Ser399Arg) single nucleotide variant not specified [RCV004376066] Chr3:197119501 [GRCh38]
Chr3:196846372 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.484-11885G>C single nucleotide variant not specified [RCV004376073] Chr3:197161681 [GRCh38]
Chr3:196888552 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.835C>A (p.Pro279Thr) single nucleotide variant not specified [RCV004376076] Chr3:197138270 [GRCh38]
Chr3:196865141 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1030G>A (p.Val344Ile) single nucleotide variant DLG1-related disorder [RCV003911926] Chr3:197130662 [GRCh38]
Chr3:196857533 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.1085C>G (p.Ser362Cys) single nucleotide variant DLG1-related disorder [RCV003931486] Chr3:197130607 [GRCh38]
Chr3:196857478 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.483+10859C>T single nucleotide variant DLG1-related disorder [RCV003896565] Chr3:197183566 [GRCh38]
Chr3:196910437 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.1015T>C (p.Leu339=) single nucleotide variant DLG1-related disorder [RCV003932075] Chr3:197136547 [GRCh38]
Chr3:196863418 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.2357G>A (p.Arg786Gln) single nucleotide variant DLG1-related disorder [RCV003932227] Chr3:197065292 [GRCh38]
Chr3:196792163 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.483+10856A>G single nucleotide variant DLG1-related disorder [RCV003964243] Chr3:197183569 [GRCh38]
Chr3:196910440 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.2047C>T (p.Arg683Cys) single nucleotide variant DLG1-related disorder [RCV003934347] Chr3:197069219 [GRCh38]
Chr3:196796090 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.484-11853C>T single nucleotide variant DLG1-related disorder [RCV003981624] Chr3:197161649 [GRCh38]
Chr3:196888520 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.333G>A (p.Gln111=) single nucleotide variant DLG1-related disorder [RCV003913901] Chr3:197194575 [GRCh38]
Chr3:196921446 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.1546+9A>G single nucleotide variant DLG1-related disorder [RCV003902174] Chr3:197104894 [GRCh38]
Chr3:196831765 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.483+10834C>T single nucleotide variant DLG1-related disorder [RCV003951484] Chr3:197183591 [GRCh38]
Chr3:196910462 [GRCh37]
Chr3:3q29		 likely benign
NM_001366207.1(DLG1):c.2663C>T (p.Pro888Leu) single nucleotide variant DLG1-related disorder [RCV003973847] Chr3:197044642 [GRCh38]
Chr3:196771513 [GRCh37]
Chr3:3q29		 benign
NM_001366207.1(DLG1):c.2622A>G (p.Lys874=) single nucleotide variant DLG1-related disorder [RCV003973991] Chr3:197044683 [GRCh38]
Chr3:196771554 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:195739427-197340833)x1 copy number loss not provided [RCV004442775] Chr3:195739427..197340833 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3 copy number gain See cases [RCV004442807] Chr3:179313373..197851444 [GRCh37]
Chr3:3q26.33-29		 pathogenic
NM_001366207.1(DLG1):c.47A>G (p.Glu16Gly) single nucleotide variant not specified [RCV004376072] Chr3:197296450 [GRCh38]
Chr3:197023321 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195106447-197846145)x3 copy number gain not provided [RCV004577475] Chr3:195106447..197846145 [GRCh37]
Chr3:3q29		 pathogenic
NM_001366207.1(DLG1):c.100A>G (p.Ile34Val) single nucleotide variant not specified [RCV004616523] Chr3:197296397 [GRCh38]
Chr3:197023268 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2000C>T (p.Ala667Val) single nucleotide variant not specified [RCV004616525] Chr3:197076591 [GRCh38]
Chr3:196803462 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.128G>A (p.Ser43Asn) single nucleotide variant not specified [RCV004616526] Chr3:197296369 [GRCh38]
Chr3:197023240 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1727T>C (p.Phe576Ser) single nucleotide variant not specified [RCV004616527] Chr3:197085691 [GRCh38]
Chr3:196812562 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.381T>G (p.Asn127Lys) single nucleotide variant not specified [RCV004616529] Chr3:197194527 [GRCh38]
Chr3:196921398 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1999G>A (p.Ala667Thr) single nucleotide variant not specified [RCV004616524] Chr3:197076592 [GRCh38]
Chr3:196803463 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.484-11927C>T single nucleotide variant not specified [RCV004616530] Chr3:197161723 [GRCh38]
Chr3:196888594 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2400T>C (p.Ser800=) single nucleotide variant DLG1-related disorder [RCV004753984] Chr3:197059972 [GRCh38]
Chr3:196786843 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:196865849-197188423)x1 copy number loss not provided [RCV004819757] Chr3:196865849..197188423 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q26.31-29(chr3:174764228-197851986)x3 copy number gain not provided [RCV004819300] Chr3:174764228..197851986 [GRCh37]
Chr3:3q26.31-29		 pathogenic
NM_001366207.1(DLG1):c.266G>C (p.Ser89Thr) single nucleotide variant not specified [RCV004906173] Chr3:197282731 [GRCh38]
Chr3:197009602 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1381A>G (p.Ile461Val) single nucleotide variant not specified [RCV004906174] Chr3:197115989 [GRCh38]
Chr3:196842860 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.2029G>A (p.Asp677Asn) single nucleotide variant not specified [RCV004906176] Chr3:197069237 [GRCh38]
Chr3:196796108 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.467A>G (p.His156Arg) single nucleotide variant not specified [RCV004906177] Chr3:197194441 [GRCh38]
Chr3:196921312 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.211A>G (p.Lys71Glu) single nucleotide variant not specified [RCV004906178] Chr3:197282786 [GRCh38]
Chr3:197009657 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1958T>A (p.Phe653Tyr) single nucleotide variant not specified [RCV004906179] Chr3:197076633 [GRCh38]
Chr3:196803504 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1979G>T (p.Ser660Ile) single nucleotide variant not specified [RCV004906180] Chr3:197076612 [GRCh38]
Chr3:196803483 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1937T>G (p.Leu646Arg) single nucleotide variant not specified [RCV004906181] Chr3:197076654 [GRCh38]
Chr3:196803525 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.516T>G (p.Asp172Glu) single nucleotide variant not specified [RCV004906182] Chr3:197149764 [GRCh38]
Chr3:196876635 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1213G>A (p.Gly405Ser) single nucleotide variant not specified [RCV004906183] Chr3:197119483 [GRCh38]
Chr3:196846354 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1994G>A (p.Ser665Asn) single nucleotide variant not specified [RCV004906184] Chr3:197076597 [GRCh38]
Chr3:196803468 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1886C>G (p.Ser629Cys) single nucleotide variant not specified [RCV004906175] Chr3:197081070 [GRCh38]
Chr3:196807941 [GRCh37]
Chr3:3q29		 uncertain significance
NM_001366207.1(DLG1):c.1188C>A (p.Asn396Lys) single nucleotide variant not specified [RCV004906185] Chr3:197119508 [GRCh38]
Chr3:196846379 [GRCh37]
Chr3:3q29		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:5619
Count of miRNA genes:1196
Interacting mature miRNAs:1470
Transcripts:ENST00000314062, ENST00000346964, ENST00000357674, ENST00000392380, ENST00000392381, ENST00000392382, ENST00000412364, ENST00000419227, ENST00000419354, ENST00000419553, ENST00000422288, ENST00000434148, ENST00000436682, ENST00000443183, ENST00000447466, ENST00000448528, ENST00000450955, ENST00000452595, ENST00000453607, ENST00000456699, ENST00000469073, ENST00000469371, ENST00000470629, ENST00000471733, ENST00000475394, ENST00000477312, ENST00000485409, ENST00000486877, ENST00000493937
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597228184GWAS1324258_Hheel bone mineral density QTL GWAS1324258 (human)3e-11heel bone mineral densitybone mineral density (CMO:0001226)3197179203197179204Human
597150228GWAS1246302_Heducational attainment QTL GWAS1246302 (human)1e-17educational attainment3197149729197149730Human
597215645GWAS1311719_Hself reported educational attainment QTL GWAS1311719 (human)4e-11self reported educational attainment3197061492197061493Human
597274204GWAS1370278_Hschizophrenia QTL GWAS1370278 (human)0.000001schizophrenia3197252235197252236Human
597069200GWAS1165274_Hsusceptibility to urinary tract infection measurement QTL GWAS1165274 (human)0.000009susceptibility to urinary tract infection measurement3197294275197294276Human
596954707GWAS1074226_Hsize QTL GWAS1074226 (human)2e-08size3197295481197295482Human
597234199GWAS1330273_Happendicular lean mass QTL GWAS1330273 (human)1e-10appendicular lean mass3197160368197160369Human
597031876GWAS1127950_HBMI-adjusted waist-hip ratio QTL GWAS1127950 (human)0.0000002body size trait (VT:0100005)3197087037197087038Human
597240072GWAS1336146_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS1336146 (human)2e-10body fat mass (VT:0010482)blood high density lipoprotein cholesterol level (CMO:0000052)3197252235197252236Human
597116485GWAS1212559_Hself reported educational attainment QTL GWAS1212559 (human)1e-12self reported educational attainment3197061492197061493Human
597173642GWAS1269716_Hbody mass index QTL GWAS1269716 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)3197252235197252236Human
597291086GWAS1387160_Hsize QTL GWAS1387160 (human)2e-08size3197295481197295482Human
597334209GWAS1430283_Hgluteofemoral adipose tissue measurement QTL GWAS1430283 (human)8e-09gluteofemoral adipose tissue measurement3197091982197091983Human
597290949GWAS1387023_HBMI-adjusted waist-hip ratio QTL GWAS1387023 (human)1e-08body size trait (VT:0100005)3197079309197079310Human
597175428GWAS1271502_Hacne QTL GWAS1271502 (human)0.0000007acne3197252235197252236Human
597111370GWAS1207444_Hmathematical ability QTL GWAS1207444 (human)7e-10mathematical ability3197061492197061493Human
597247161GWAS1343235_HCleft palate, cleft lip QTL GWAS1343235 (human)0.0000005Cleft palate, cleft lip3197076776197076777Human
597245567GWAS1341641_Hbody fat percentage QTL GWAS1341641 (human)9e-12body fat mass (VT:0010482)body fat percentage (CMO:0000302)3197252235197252236Human
597369212GWAS1465286_Hwaist-hip ratio QTL GWAS1465286 (human)4e-08waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)3197046263197046264Human
597117436GWAS1213510_Hmathematical ability QTL GWAS1213510 (human)4e-08mathematical ability3197061492197061493Human
406954986GWAS603962_HCleft palate, cleft lip QTL GWAS603962 (human)0.000009Cleft palate, cleft lip3197204950197204951Human
597212021GWAS1308095_Hmathematical ability QTL GWAS1308095 (human)9e-14mathematical ability3197061492197061493Human
597508659GWAS1604733_HBMI-adjusted waist circumference QTL GWAS1604733 (human)5e-08body size trait (VT:0100005)3197050366197050367Human
597347701GWAS1443775_Hbody fat percentage QTL GWAS1443775 (human)4e-10body fat mass (VT:0010482)body fat percentage (CMO:0000302)3197211848197211849Human
597245933GWAS1342007_HBMI-adjusted waist-hip ratio QTL GWAS1342007 (human)2e-08body size trait (VT:0100005)3197079309197079310Human
406933940GWAS582916_Hheel bone mineral density QTL GWAS582916 (human)1e-13heel bone mineral densitybone mineral density (CMO:0001226)3197179203197179204Human
597169505GWAS1265579_Hacne QTL GWAS1265579 (human)2e-09acne3197219776197219777Human
597059050GWAS1155124_Hvital capacity QTL GWAS1155124 (human)7e-17vital capacity3197184490197184491Human
597034344GWAS1130418_Hheel bone mineral density QTL GWAS1130418 (human)3e-12heel bone mineral densitybone mineral density (CMO:0001226)3197179203197179204Human
597108584GWAS1204658_Hself reported educational attainment QTL GWAS1204658 (human)6e-11self reported educational attainment3197149729197149730Human

Markers in Region
D3S1311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373197,018,107 - 197,018,250UniSTSGRCh37
GRCh373197,018,138 - 197,018,258UniSTSGRCh37
Build 363198,502,535 - 198,502,655RGDNCBI36
Celera3195,603,450 - 195,603,570RGD
Celera3195,603,419 - 195,603,562UniSTS
Cytogenetic Map3q29UniSTS
HuRef3194,317,392 - 194,317,502UniSTS
HuRef3194,317,361 - 194,317,494UniSTS
Marshfield Genetic Map3224.88RGD
Genethon Genetic Map3230.7UniSTS
TNG Radiation Hybrid Map3109502.0UniSTS
deCODE Assembly Map3220.19UniSTS
Stanford-G3 RH Map38735.0UniSTS
Whitehead-RH Map3883.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map32032.2UniSTS
GeneMap99-G3 RH Map39205.0UniSTS
D3S1272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373197,016,135 - 197,016,398UniSTSGRCh37
GRCh373197,016,169 - 197,016,398UniSTSGRCh37
Build 363198,500,532 - 198,500,795RGDNCBI36
Celera3195,601,473 - 195,601,706UniSTS
Celera3195,601,439 - 195,601,706RGD
Cytogenetic Map3q29UniSTS
HuRef3194,315,409 - 194,315,648UniSTS
HuRef3194,315,375 - 194,315,648UniSTS
Marshfield Genetic Map3224.88RGD
Genethon Genetic Map3230.7UniSTS
TNG Radiation Hybrid Map3109476.0UniSTS
deCODE Assembly Map3220.19UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
Whitehead-RH Map3883.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map32000.6UniSTS
RH46943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,845,018 - 196,845,144UniSTSGRCh37
Build 363198,329,415 - 198,329,541RGDNCBI36
Celera3195,430,308 - 195,430,434RGD
Cytogenetic Map3q29UniSTS
HuRef3194,144,298 - 194,144,424UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D3S2855E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,769,932 - 196,770,058UniSTSGRCh37
Build 363198,254,329 - 198,254,455RGDNCBI36
Celera3195,355,308 - 195,355,434RGD
Cytogenetic Map3q29UniSTS
HuRef3194,069,373 - 194,069,499UniSTS
TNG Radiation Hybrid Map3108802.0UniSTS
GeneMap99-GB4 RH Map3730.73UniSTS
SHGC-64259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373197,009,565 - 197,009,661UniSTSGRCh37
Build 363198,493,962 - 198,494,058RGDNCBI36
Celera3195,594,858 - 195,594,954RGD
Cytogenetic Map3q29UniSTS
HuRef3194,308,818 - 194,308,914UniSTS
TNG Radiation Hybrid Map3109484.0UniSTS
RH76431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,980,329 - 196,980,568UniSTSGRCh37
Build 363198,464,726 - 198,464,965RGDNCBI36
Celera3195,565,619 - 195,565,858RGD
Cytogenetic Map3q29UniSTS
HuRef3194,279,524 - 194,279,763UniSTS
RH93848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,770,637 - 196,770,779UniSTSGRCh37
Build 363198,255,034 - 198,255,176RGDNCBI36
Celera3195,356,013 - 195,356,155RGD
Cytogenetic Map3q29UniSTS
HuRef3194,070,078 - 194,070,220UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
SHGC-78890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,802,832 - 196,803,102UniSTSGRCh37
Build 363198,287,229 - 198,287,499RGDNCBI36
Celera3195,388,124 - 195,388,394RGD
Cytogenetic Map3q29UniSTS
HuRef3194,102,220 - 194,102,490UniSTS
TNG Radiation Hybrid Map3108777.0UniSTS
RH101988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,832,179 - 196,832,301UniSTSGRCh37
Build 363198,316,576 - 198,316,698RGDNCBI36
Celera3195,417,469 - 195,417,591RGD
Cytogenetic Map3q29UniSTS
HuRef3194,131,459 - 194,131,581UniSTS
GeneMap99-GB4 RH Map3730.73UniSTS
SHGC-82362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,879,720 - 196,879,990UniSTSGRCh37
Build 363198,364,117 - 198,364,387RGDNCBI36
Celera3195,464,998 - 195,465,268RGD
Cytogenetic Map3q29UniSTS
HuRef3194,178,900 - 194,179,170UniSTS
TNG Radiation Hybrid Map3108722.0UniSTS
G62059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,769,943 - 196,770,059UniSTSGRCh37
Build 363198,254,340 - 198,254,456RGDNCBI36
Celera3195,355,319 - 195,355,435RGD
Cytogenetic Map3q29UniSTS
HuRef3194,069,384 - 194,069,500UniSTS
RH12686  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,769,532 - 196,769,708UniSTSGRCh37
Build 363198,253,929 - 198,254,105RGDNCBI36
Celera3195,354,908 - 195,355,084RGD
Cytogenetic Map3q29UniSTS
HuRef3194,068,973 - 194,069,149UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
G30445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,971,410 - 196,971,510UniSTSGRCh37
Build 363198,455,807 - 198,455,907RGDNCBI36
Celera3195,556,700 - 195,556,800RGD
Cytogenetic Map3q29UniSTS
HuRef3194,270,605 - 194,270,705UniSTS
STS-R83329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,832,168 - 196,832,292UniSTSGRCh37
Build 363198,316,565 - 198,316,689RGDNCBI36
Celera3195,417,458 - 195,417,582RGD
Cytogenetic Map3q29UniSTS
HuRef3194,131,448 - 194,131,572UniSTS
TNG Radiation Hybrid Map3108748.0UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
SHGC-77698  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,798,315 - 196,798,451UniSTSGRCh37
Build 363198,282,712 - 198,282,848RGDNCBI36
Celera3195,383,607 - 195,383,743RGD
Cytogenetic Map3q29UniSTS
HuRef3194,097,703 - 194,097,839UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D3S4117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,990,697 - 196,990,875UniSTSGRCh37
Build 363198,475,094 - 198,475,272RGDNCBI36
Celera3195,575,986 - 195,576,164RGD
Cytogenetic Map3q29UniSTS
HuRef3194,289,893 - 194,290,071UniSTS
Stanford-G3 RH Map38745.0UniSTS
NCBI RH Map32039.1UniSTS
A009W05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,814,304 - 196,814,438UniSTSGRCh37
Build 363198,298,701 - 198,298,835RGDNCBI36
Celera3195,399,594 - 195,399,728RGD
Cytogenetic Map3q29UniSTS
HuRef3194,113,585 - 194,113,719UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D3S3326  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,769,823 - 196,770,085UniSTSGRCh37
Build 363198,254,220 - 198,254,482RGDNCBI36
Celera3195,355,199 - 195,355,461RGD
Cytogenetic Map3q29UniSTS
HuRef3194,069,264 - 194,069,526UniSTS
GeneMap99-GB4 RH Map3730.43UniSTS
Whitehead-RH Map3885.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map32000.6UniSTS
D13S1553  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.2-q34.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6p25.1UniSTS
G32903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373196,814,304 - 196,814,438UniSTSGRCh37
Celera3195,399,594 - 195,399,728UniSTS
Cytogenetic Map3q29UniSTS
HuRef3194,113,585 - 194,113,719UniSTS
SHGC-77702  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q29UniSTS
TNG Radiation Hybrid Map3108828.0UniSTS
GeneMap99-GB4 RH Map3729.32UniSTS
D3S1311  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q29UniSTS
Marshfield Genetic Map3224.88UniSTS
Genethon Genetic Map3230.7UniSTS
deCODE Assembly Map3220.19UniSTS
Whitehead-RH Map3883.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map32000.6UniSTS
D3S1272  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3q29UniSTS
Marshfield Genetic Map3224.88UniSTS
Genethon Genetic Map3230.7UniSTS
deCODE Assembly Map3220.19UniSTS
Whitehead-RH Map3883.6UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map32000.6UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2247 4971 1725 2349 4 623 1948 464 2269 7290 6459 52 3733 1 850 1738 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001098424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001204388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366211 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001366222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_158767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005269289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011512509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054345502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001740044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007095643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_924108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA837080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB855790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB855791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI223994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC140841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM728664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF553524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U13897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000346964   ⟹   ENSP00000345731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,560 - 197,298,576 (-)Ensembl
Ensembl Acc Id: ENST00000357674   ⟹   ENSP00000350303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,613 - 197,298,606 (-)Ensembl
Ensembl Acc Id: ENST00000392380   ⟹   ENSP00000376185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,149,755 - 197,297,733 (-)Ensembl
Ensembl Acc Id: ENST00000392381   ⟹   ENSP00000376186
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,078,463 - 197,298,115 (-)Ensembl
Ensembl Acc Id: ENST00000392382   ⟹   ENSP00000376187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,623 - 197,298,115 (-)Ensembl
Ensembl Acc Id: ENST00000412364   ⟹   ENSP00000390403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,282,679 - 197,297,596 (-)Ensembl
Ensembl Acc Id: ENST00000419227   ⟹   ENSP00000396768
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,069,217 - 197,298,576 (-)Ensembl
Ensembl Acc Id: ENST00000419354   ⟹   ENSP00000407531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,631 - 197,299,300 (-)Ensembl
Ensembl Acc Id: ENST00000419553   ⟹   ENSP00000414189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,104,993 - 197,296,400 (-)Ensembl
Ensembl Acc Id: ENST00000422288   ⟹   ENSP00000413238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,331 - 197,297,699 (-)Ensembl
Ensembl Acc Id: ENST00000434148   ⟹   ENSP00000400169
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,296,390 - 197,297,523 (-)Ensembl
Ensembl Acc Id: ENST00000436682   ⟹   ENSP00000393771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,185 - 197,297,825 (-)Ensembl
Ensembl Acc Id: ENST00000443183   ⟹   ENSP00000396658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,560 - 197,183,858 (-)Ensembl
Ensembl Acc Id: ENST00000447466   ⟹   ENSP00000398702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,116,038 - 197,183,634 (-)Ensembl
Ensembl Acc Id: ENST00000448528   ⟹   ENSP00000391732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,551 - 197,298,576 (-)Ensembl
Ensembl Acc Id: ENST00000450955   ⟹   ENSP00000411278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,623 - 197,297,204 (-)Ensembl
Ensembl Acc Id: ENST00000452595   ⟹   ENSP00000398939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,260 - 197,184,131 (-)Ensembl
Ensembl Acc Id: ENST00000453607   ⟹   ENSP00000412579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,140,145 - 197,260,461 (-)Ensembl
Ensembl Acc Id: ENST00000456699   ⟹   ENSP00000396474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,149,743 - 197,297,733 (-)Ensembl
Ensembl Acc Id: ENST00000469073   ⟹   ENSP00000499640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,065,440 - 197,226,359 (-)Ensembl
Ensembl Acc Id: ENST00000469371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,033 - 197,071,003 (-)Ensembl
Ensembl Acc Id: ENST00000470629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,065,709 - 197,069,482 (-)Ensembl
Ensembl Acc Id: ENST00000471733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,080,478 - 197,298,631 (-)Ensembl
Ensembl Acc Id: ENST00000475394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,051,577 - 197,075,871 (-)Ensembl
Ensembl Acc Id: ENST00000477312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,136,324 - 197,142,799 (-)Ensembl
Ensembl Acc Id: ENST00000485409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,194,337 - 197,296,889 (-)Ensembl
Ensembl Acc Id: ENST00000486877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,282,610 - 197,297,733 (-)Ensembl
Ensembl Acc Id: ENST00000493937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,080,990 - 197,085,658 (-)Ensembl
Ensembl Acc Id: ENST00000653331   ⟹   ENSP00000499752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,957 - 197,183,865 (-)Ensembl
Ensembl Acc Id: ENST00000653583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,223,014 (-)Ensembl
Ensembl Acc Id: ENST00000653795   ⟹   ENSP00000499599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,183,963 (-)Ensembl
Ensembl Acc Id: ENST00000654733   ⟹   ENSP00000499730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,047,379 - 197,260,722 (-)Ensembl
Ensembl Acc Id: ENST00000654737   ⟹   ENSP00000499578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,990 - 197,298,612 (-)Ensembl
Ensembl Acc Id: ENST00000655488   ⟹   ENSP00000499657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,600 - 197,298,587 (-)Ensembl
Ensembl Acc Id: ENST00000656087   ⟹   ENSP00000499723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,297,809 (-)Ensembl
Ensembl Acc Id: ENST00000656428   ⟹   ENSP00000499329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,581 - 197,226,352 (-)Ensembl
Ensembl Acc Id: ENST00000656944   ⟹   ENSP00000499584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,623 - 197,298,558 (-)Ensembl
Ensembl Acc Id: ENST00000657098   ⟹   ENSP00000499247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,095 - 197,183,865 (-)Ensembl
Ensembl Acc Id: ENST00000657381   ⟹   ENSP00000499507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,985 - 197,298,623 (-)Ensembl
Ensembl Acc Id: ENST00000658155   ⟹   ENSP00000499257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,046,232 - 197,260,369 (-)Ensembl
Ensembl Acc Id: ENST00000658701   ⟹   ENSP00000499531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,299,330 (-)Ensembl
Ensembl Acc Id: ENST00000659221   ⟹   ENSP00000499269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,985 - 197,297,848 (-)Ensembl
Ensembl Acc Id: ENST00000659716   ⟹   ENSP00000499602
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,075 - 197,298,612 (-)Ensembl
Ensembl Acc Id: ENST00000660237   ⟹   ENSP00000499707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,075 - 197,183,763 (-)Ensembl
Ensembl Acc Id: ENST00000660432   ⟹   ENSP00000499677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,964 - 197,297,858 (-)Ensembl
Ensembl Acc Id: ENST00000660553   ⟹   ENSP00000499559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,127 - 197,183,814 (-)Ensembl
Ensembl Acc Id: ENST00000660898   ⟹   ENSP00000499363
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,964 - 197,297,853 (-)Ensembl
Ensembl Acc Id: ENST00000661013   ⟹   ENSP00000499440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,153 - 197,297,694 (-)Ensembl
Ensembl Acc Id: ENST00000661229   ⟹   ENSP00000499280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,075 - 197,296,470 (-)Ensembl
Ensembl Acc Id: ENST00000661336   ⟹   ENSP00000499229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,298,612 (-)Ensembl
Ensembl Acc Id: ENST00000661440   ⟹   ENSP00000499381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,693 - 197,298,612 (-)Ensembl
Ensembl Acc Id: ENST00000661453   ⟹   ENSP00000499514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,945 - 197,297,871 (-)Ensembl
Ensembl Acc Id: ENST00000661808   ⟹   ENSP00000499637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,126,134 - 197,260,726 (-)Ensembl
Ensembl Acc Id: ENST00000662727   ⟹   ENSP00000499774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,044,267 - 197,297,825 (-)Ensembl
Ensembl Acc Id: ENST00000663148   ⟹   ENSP00000499384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,598 - 197,299,067 (-)Ensembl
Ensembl Acc Id: ENST00000664564   ⟹   ENSP00000499320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,955 - 197,297,705 (-)Ensembl
Ensembl Acc Id: ENST00000664991   ⟹   ENSP00000499250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,589 - 197,298,011 (-)Ensembl
Ensembl Acc Id: ENST00000665728   ⟹   ENSP00000499682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,948 - 197,260,733 (-)Ensembl
Ensembl Acc Id: ENST00000666007   ⟹   ENSP00000499793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,983 - 197,297,699 (-)Ensembl
Ensembl Acc Id: ENST00000667104   ⟹   ENSP00000499313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,299,324 (-)Ensembl
Ensembl Acc Id: ENST00000667157   ⟹   ENSP00000499414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,560 - 197,298,612 (-)Ensembl
Ensembl Acc Id: ENST00000667971   ⟹   ENSP00000499347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,701 - 197,297,853 (-)Ensembl
Ensembl Acc Id: ENST00000668578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,701 - 197,223,143 (-)Ensembl
Ensembl Acc Id: ENST00000669332   ⟹   ENSP00000499499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,035 - 197,260,593 (-)Ensembl
Ensembl Acc Id: ENST00000669565   ⟹   ENSP00000499413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,297,853 (-)Ensembl
Ensembl Acc Id: ENST00000669714   ⟹   ENSP00000499698
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,046,440 - 197,260,739 (-)Ensembl
Ensembl Acc Id: ENST00000670366   ⟹   ENSP00000499310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,260,673 (-)Ensembl
Ensembl Acc Id: ENST00000670455   ⟹   ENSP00000499542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,297,843 (-)Ensembl
Ensembl Acc Id: ENST00000670935   ⟹   ENSP00000499437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,043,701 - 197,297,801 (-)Ensembl
Ensembl Acc Id: ENST00000671185   ⟹   ENSP00000499580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,938 - 197,297,853 (-)Ensembl
Ensembl Acc Id: ENST00000671246   ⟹   ENSP00000499692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3197,042,943 - 197,183,808 (-)Ensembl
RefSeq Acc Id: NM_001098424   ⟹   NP_001091894
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,576 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
Build 363198,253,828 - 198,509,844 (-)NCBI Archive
HuRef3194,068,872 - 194,324,699 (-)ENTREZGENE
CHM1_13196,740,135 - 196,996,273 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,841 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204386   ⟹   NP_001191315
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,576 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
HuRef3194,068,872 - 194,324,699 (-)ENTREZGENE
CHM1_13196,740,135 - 196,996,273 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,841 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204387   ⟹   NP_001191316
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
HuRef3194,068,872 - 194,324,699 (-)ENTREZGENE
CHM1_13196,740,135 - 196,881,811 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001204388   ⟹   NP_001191317
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
HuRef3194,068,872 - 194,324,699 (-)ENTREZGENE
CHM1_13196,740,135 - 196,881,811 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001290983   ⟹   NP_001277912
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,299,321 (-)NCBI
CHM1_13196,740,135 - 196,996,969 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,020,586 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001363865   ⟹   NP_001350794
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366203   ⟹   NP_001353132
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,299,321 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,020,586 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366204   ⟹   NP_001353133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366205   ⟹   NP_001353134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366206   ⟹   NP_001353135
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366207   ⟹   NP_001353136
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366208   ⟹   NP_001353137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366209   ⟹   NP_001353138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366210   ⟹   NP_001353139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366211   ⟹   NP_001353140
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366212   ⟹   NP_001353141
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366213   ⟹   NP_001353142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366214   ⟹   NP_001353143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366215   ⟹   NP_001353144
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366216   ⟹   NP_001353145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366217   ⟹   NP_001353146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366218   ⟹   NP_001353147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366219   ⟹   NP_001353148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366220   ⟹   NP_001353149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366221   ⟹   NP_001353150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001366222   ⟹   NP_001353151
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004087   ⟹   NP_004078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,576 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
Build 363198,253,828 - 198,509,844 (-)NCBI Archive
HuRef3194,068,872 - 194,324,699 (-)ENTREZGENE
CHM1_13196,740,135 - 196,996,273 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,841 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158764
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158765
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158766
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: NR_158767
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005269289   ⟹   XP_005269346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
GRCh373196,769,431 - 197,026,171 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011512502   ⟹   XP_011510804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005800   ⟹   XP_016861289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005801   ⟹   XP_016861290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,612 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005802   ⟹   XP_016861291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,297,481 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005803   ⟹   XP_016861292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,299,321 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005811   ⟹   XP_016861300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,298,135 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005821   ⟹   XP_016861310
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017005823   ⟹   XP_016861312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,042,560 - 197,183,872 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447592   ⟹   XP_047303548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,065,287 - 197,298,135 (-)NCBI
RefSeq Acc Id: XM_047447593   ⟹   XP_047303549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,078,443 - 197,298,135 (-)NCBI
RefSeq Acc Id: XM_047447594   ⟹   XP_047303550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,090,908 - 197,298,612 (-)NCBI
RefSeq Acc Id: XM_054345491   ⟹   XP_054201466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345492   ⟹   XP_054201467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,019,877 (-)NCBI
RefSeq Acc Id: XM_054345493   ⟹   XP_054201468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345494   ⟹   XP_054201469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,018,746 (-)NCBI
RefSeq Acc Id: XM_054345495   ⟹   XP_054201470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,020,586 (-)NCBI
RefSeq Acc Id: XM_054345496   ⟹   XP_054201471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345497   ⟹   XP_054201472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345498   ⟹   XP_054201473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
RefSeq Acc Id: XM_054345499   ⟹   XP_054201474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,768,533 - 199,909,746 (-)NCBI
RefSeq Acc Id: XM_054345500   ⟹   XP_054201475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,791,283 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345501   ⟹   XP_054201476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,804,433 - 200,019,400 (-)NCBI
RefSeq Acc Id: XM_054345502   ⟹   XP_054201477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,816,888 - 200,019,400 (-)NCBI
RefSeq Acc Id: XR_007095642
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,066,719 - 197,298,135 (-)NCBI
RefSeq Acc Id: XR_007095643
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,066,719 - 197,298,135 (-)NCBI
RefSeq Acc Id: XR_008486666
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,792,716 - 200,019,400 (-)NCBI
RefSeq Acc Id: XR_008486667
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03199,792,716 - 200,019,400 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001091894 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191315 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191316 (Get FASTA)   NCBI Sequence Viewer  
  NP_001191317 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277912 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350794 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353132 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353133 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353134 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353135 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353136 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353139 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353140 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353141 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353142 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353143 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353144 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353146 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353147 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353148 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353149 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353150 (Get FASTA)   NCBI Sequence Viewer  
  NP_001353151 (Get FASTA)   NCBI Sequence Viewer  
  NP_004078 (Get FASTA)   NCBI Sequence Viewer  
  XP_005269346 (Get FASTA)   NCBI Sequence Viewer  
  XP_011510804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861289 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861290 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861291 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861292 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861300 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861310 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861312 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303548 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303549 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054201477 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA50598 (Get FASTA)   NCBI Sequence Viewer  
  AAA50599 (Get FASTA)   NCBI Sequence Viewer  
  AAH15560 (Get FASTA)   NCBI Sequence Viewer  
  AAI40842 (Get FASTA)   NCBI Sequence Viewer  
  AAI44652 (Get FASTA)   NCBI Sequence Viewer  
  ABQ66269 (Get FASTA)   NCBI Sequence Viewer  
  BAD92773 (Get FASTA)   NCBI Sequence Viewer  
  BAG57339 (Get FASTA)   NCBI Sequence Viewer  
  BAG57902 (Get FASTA)   NCBI Sequence Viewer  
  BAG57959 (Get FASTA)   NCBI Sequence Viewer  
  BAG65140 (Get FASTA)   NCBI Sequence Viewer  
  BAU68222 (Get FASTA)   NCBI Sequence Viewer  
  BAU68223 (Get FASTA)   NCBI Sequence Viewer  
  CAD38582 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43249 (Get FASTA)   NCBI Sequence Viewer  
  EAW53610 (Get FASTA)   NCBI Sequence Viewer  
  EAW53611 (Get FASTA)   NCBI Sequence Viewer  
  EAW53612 (Get FASTA)   NCBI Sequence Viewer  
  EAW53613 (Get FASTA)   NCBI Sequence Viewer  
  EAW53614 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000345731
  ENSP00000345731.2
  ENSP00000350303
  ENSP00000350303.6
  ENSP00000376185.2
  ENSP00000376186
  ENSP00000376186.3
  ENSP00000376187.2
  ENSP00000390403.1
  ENSP00000391732
  ENSP00000391732.2
  ENSP00000393771.2
  ENSP00000396474.2
  ENSP00000396658
  ENSP00000396658.1
  ENSP00000396768.1
  ENSP00000398702.1
  ENSP00000398939
  ENSP00000398939.1
  ENSP00000400169.1
  ENSP00000407531
  ENSP00000407531.1
  ENSP00000411278.1
  ENSP00000412579.1
  ENSP00000413238
  ENSP00000413238.1
  ENSP00000414189.2
  ENSP00000499229
  ENSP00000499229.1
  ENSP00000499247.1
  ENSP00000499250.1
  ENSP00000499257.1
  ENSP00000499269
  ENSP00000499269.1
  ENSP00000499280
  ENSP00000499280.1
  ENSP00000499310.1
  ENSP00000499313
  ENSP00000499313.1
  ENSP00000499320.1
  ENSP00000499329.1
  ENSP00000499347.1
  ENSP00000499363
  ENSP00000499363.1
  ENSP00000499381.1
  ENSP00000499384.1
  ENSP00000499413
  ENSP00000499413.1
  ENSP00000499414
  ENSP00000499414.1
  ENSP00000499437
  ENSP00000499437.1
  ENSP00000499440.1
  ENSP00000499499.1
  ENSP00000499507
  ENSP00000499507.1
  ENSP00000499514
  ENSP00000499514.1
  ENSP00000499531.1
  ENSP00000499542
  ENSP00000499542.1
  ENSP00000499559.1
  ENSP00000499578.1
  ENSP00000499580
  ENSP00000499580.1
  ENSP00000499584
  ENSP00000499584.1
  ENSP00000499599
  ENSP00000499599.1
  ENSP00000499602
  ENSP00000499602.1
  ENSP00000499637.1
  ENSP00000499640.1
  ENSP00000499657
  ENSP00000499657.1
  ENSP00000499677.1
  ENSP00000499682.1
  ENSP00000499692
  ENSP00000499692.1
  ENSP00000499698.1
  ENSP00000499707.1
  ENSP00000499723
  ENSP00000499723.1
  ENSP00000499730.1
  ENSP00000499752.1
  ENSP00000499774
  ENSP00000499774.1
  ENSP00000499793
  ENSP00000499793.1
GenBank Protein Q12959 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001191315   ⟸   NM_001204386
- Peptide Label: isoform 3
- UniProtKB: A0A0C4DFT3 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001091894   ⟸   NM_001098424
- Peptide Label: isoform 1
- UniProtKB: E9PG21 (UniProtKB/Swiss-Prot),   E7EWL7 (UniProtKB/Swiss-Prot),   D3DXB9 (UniProtKB/Swiss-Prot),   D3DXB8 (UniProtKB/Swiss-Prot),   B9EIQ5 (UniProtKB/Swiss-Prot),   B7ZMM0 (UniProtKB/Swiss-Prot),   B4DGZ8 (UniProtKB/Swiss-Prot),   B4DGU1 (UniProtKB/Swiss-Prot),   A5YKK7 (UniProtKB/Swiss-Prot),   Q12958 (UniProtKB/Swiss-Prot),   Q12959 (UniProtKB/Swiss-Prot),   A0A590UJR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004078   ⟸   NM_004087
- Peptide Label: isoform 2
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191317   ⟸   NM_001204388
- Peptide Label: isoform 5
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001191316   ⟸   NM_001204387
- Peptide Label: isoform 4
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005269346   ⟸   XM_005269289
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277912   ⟸   NM_001290983
- Peptide Label: isoform 1
- UniProtKB: E9PG21 (UniProtKB/Swiss-Prot),   E7EWL7 (UniProtKB/Swiss-Prot),   D3DXB9 (UniProtKB/Swiss-Prot),   D3DXB8 (UniProtKB/Swiss-Prot),   B9EIQ5 (UniProtKB/Swiss-Prot),   B7ZMM0 (UniProtKB/Swiss-Prot),   B4DGZ8 (UniProtKB/Swiss-Prot),   B4DGU1 (UniProtKB/Swiss-Prot),   A5YKK7 (UniProtKB/Swiss-Prot),   Q12958 (UniProtKB/Swiss-Prot),   Q12959 (UniProtKB/Swiss-Prot),   A0A590UJR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011510804   ⟸   XM_011512502
- Peptide Label: isoform X2
- UniProtKB: E9PG21 (UniProtKB/Swiss-Prot),   E7EWL7 (UniProtKB/Swiss-Prot),   D3DXB9 (UniProtKB/Swiss-Prot),   D3DXB8 (UniProtKB/Swiss-Prot),   B9EIQ5 (UniProtKB/Swiss-Prot),   B7ZMM0 (UniProtKB/Swiss-Prot),   B4DGZ8 (UniProtKB/Swiss-Prot),   B4DGU1 (UniProtKB/Swiss-Prot),   A5YKK7 (UniProtKB/Swiss-Prot),   Q12958 (UniProtKB/Swiss-Prot),   Q12959 (UniProtKB/Swiss-Prot),   A0A590UJR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861290   ⟸   XM_017005801
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861289   ⟸   XM_017005800
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861300   ⟸   XM_017005811
- Peptide Label: isoform X3
- UniProtKB: A0A590UJ08 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861291   ⟸   XM_017005802
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861310   ⟸   XM_017005821
- Peptide Label: isoform X4
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861312   ⟸   XM_017005823
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016861292   ⟸   XM_017005803
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001353132   ⟸   NM_001366203
- Peptide Label: isoform 7
- UniProtKB: A0A590UJ68 (UniProtKB/TrEMBL),   A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353133   ⟸   NM_001366204
- Peptide Label: isoform 8
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353134   ⟸   NM_001366205
- Peptide Label: isoform 3
- UniProtKB: A0A0C4DFT3 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353136   ⟸   NM_001366207
- Peptide Label: isoform 6
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353135   ⟸   NM_001366206
- Peptide Label: isoform 9
- UniProtKB: A0A590UJ08 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353137   ⟸   NM_001366208
- Peptide Label: isoform 8
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350794   ⟸   NM_001363865
- Peptide Label: isoform 6
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353145   ⟸   NM_001366216
- Peptide Label: isoform 12
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353149   ⟸   NM_001366220
- Peptide Label: isoform 13
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353138   ⟸   NM_001366209
- Peptide Label: isoform 8
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353140   ⟸   NM_001366211
- Peptide Label: isoform 10
- UniProtKB: A0A590UKA8 (UniProtKB/TrEMBL),   A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353142   ⟸   NM_001366213
- Peptide Label: isoform 3
- UniProtKB: A0A0C4DFT3 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353139   ⟸   NM_001366210
- Peptide Label: isoform 6
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353143   ⟸   NM_001366214
- Peptide Label: isoform 11
- UniProtKB: A0A590UJD9 (UniProtKB/TrEMBL),   A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353148   ⟸   NM_001366219
- Peptide Label: isoform 12
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353141   ⟸   NM_001366212
- Peptide Label: isoform 8
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353146   ⟸   NM_001366217
- Peptide Label: isoform 10
- UniProtKB: A0A590UKA8 (UniProtKB/TrEMBL),   A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353144   ⟸   NM_001366215
- Peptide Label: isoform 6
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353147   ⟸   NM_001366218
- Peptide Label: isoform 1
- UniProtKB: Q12959 (UniProtKB/Swiss-Prot),   E9PG21 (UniProtKB/Swiss-Prot),   E7EWL7 (UniProtKB/Swiss-Prot),   D3DXB9 (UniProtKB/Swiss-Prot),   D3DXB8 (UniProtKB/Swiss-Prot),   B9EIQ5 (UniProtKB/Swiss-Prot),   B7ZMM0 (UniProtKB/Swiss-Prot),   B4DGZ8 (UniProtKB/Swiss-Prot),   B4DGU1 (UniProtKB/Swiss-Prot),   A5YKK7 (UniProtKB/Swiss-Prot),   Q12958 (UniProtKB/Swiss-Prot),   A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353151   ⟸   NM_001366222
- Peptide Label: isoform 15
- UniProtKB: A0A590UK48 (UniProtKB/TrEMBL),   A0A590UJR4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001353150   ⟸   NM_001366221
- Peptide Label: isoform 14
- UniProtKB: A0A590UJX2 (UniProtKB/TrEMBL),   A0A590UJR4 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000499707   ⟸   ENST00000660237
Ensembl Acc Id: ENSP00000499559   ⟸   ENST00000660553
Ensembl Acc Id: ENSP00000499677   ⟸   ENST00000660432
Ensembl Acc Id: ENSP00000499363   ⟸   ENST00000660898
Ensembl Acc Id: ENSP00000345731   ⟸   ENST00000346964
Ensembl Acc Id: ENSP00000499440   ⟸   ENST00000661013
Ensembl Acc Id: ENSP00000499381   ⟸   ENST00000661440
Ensembl Acc Id: ENSP00000499514   ⟸   ENST00000661453
Ensembl Acc Id: ENSP00000499229   ⟸   ENST00000661336
Ensembl Acc Id: ENSP00000499280   ⟸   ENST00000661229
Ensembl Acc Id: ENSP00000411278   ⟸   ENST00000450955
Ensembl Acc Id: ENSP00000499637   ⟸   ENST00000661808
Ensembl Acc Id: ENSP00000499774   ⟸   ENST00000662727
Ensembl Acc Id: ENSP00000390403   ⟸   ENST00000412364
Ensembl Acc Id: ENSP00000398939   ⟸   ENST00000452595
Ensembl Acc Id: ENSP00000499384   ⟸   ENST00000663148
Ensembl Acc Id: ENSP00000412579   ⟸   ENST00000453607
Ensembl Acc Id: ENSP00000499250   ⟸   ENST00000664991
Ensembl Acc Id: ENSP00000499320   ⟸   ENST00000664564
Ensembl Acc Id: ENSP00000499640   ⟸   ENST00000469073
Ensembl Acc Id: ENSP00000499682   ⟸   ENST00000665728
Ensembl Acc Id: ENSP00000499793   ⟸   ENST00000666007
Ensembl Acc Id: ENSP00000396474   ⟸   ENST00000456699
Ensembl Acc Id: ENSP00000499414   ⟸   ENST00000667157
Ensembl Acc Id: ENSP00000499313   ⟸   ENST00000667104
Ensembl Acc Id: ENSP00000396658   ⟸   ENST00000443183
Ensembl Acc Id: ENSP00000499752   ⟸   ENST00000653331
Ensembl Acc Id: ENSP00000499347   ⟸   ENST00000667971
Ensembl Acc Id: ENSP00000499599   ⟸   ENST00000653795
Ensembl Acc Id: ENSP00000396768   ⟸   ENST00000419227
Ensembl Acc Id: ENSP00000407531   ⟸   ENST00000419354
Ensembl Acc Id: ENSP00000414189   ⟸   ENST00000419553
Ensembl Acc Id: ENSP00000499578   ⟸   ENST00000654737
Ensembl Acc Id: ENSP00000499730   ⟸   ENST00000654733
Ensembl Acc Id: ENSP00000499698   ⟸   ENST00000669714
Ensembl Acc Id: ENSP00000499657   ⟸   ENST00000655488
Ensembl Acc Id: ENSP00000499413   ⟸   ENST00000669565
Ensembl Acc Id: ENSP00000499499   ⟸   ENST00000669332
Ensembl Acc Id: ENSP00000499329   ⟸   ENST00000656428
Ensembl Acc Id: ENSP00000376185   ⟸   ENST00000392380
Ensembl Acc Id: ENSP00000376187   ⟸   ENST00000392382
Ensembl Acc Id: ENSP00000376186   ⟸   ENST00000392381
Ensembl Acc Id: ENSP00000499584   ⟸   ENST00000656944
Ensembl Acc Id: ENSP00000499723   ⟸   ENST00000656087
Ensembl Acc Id: ENSP00000499247   ⟸   ENST00000657098
Ensembl Acc Id: ENSP00000499507   ⟸   ENST00000657381
Ensembl Acc Id: ENSP00000398702   ⟸   ENST00000447466
Ensembl Acc Id: ENSP00000499257   ⟸   ENST00000658155
Ensembl Acc Id: ENSP00000499531   ⟸   ENST00000658701
Ensembl Acc Id: ENSP00000499269   ⟸   ENST00000659221
Ensembl Acc Id: ENSP00000391732   ⟸   ENST00000448528
Ensembl Acc Id: ENSP00000400169   ⟸   ENST00000434148
Ensembl Acc Id: ENSP00000499437   ⟸   ENST00000670935
Ensembl Acc Id: ENSP00000499602   ⟸   ENST00000659716
Ensembl Acc Id: ENSP00000499542   ⟸   ENST00000670455
Ensembl Acc Id: ENSP00000499310   ⟸   ENST00000670366
Ensembl Acc Id: ENSP00000499692   ⟸   ENST00000671246
Ensembl Acc Id: ENSP00000499580   ⟸   ENST00000671185
Ensembl Acc Id: ENSP00000350303   ⟸   ENST00000357674
Ensembl Acc Id: ENSP00000393771   ⟸   ENST00000436682
Ensembl Acc Id: ENSP00000413238   ⟸   ENST00000422288
RefSeq Acc Id: XP_047303548   ⟸   XM_047447592
- Peptide Label: isoform X6
- UniProtKB: A0A590UJ64 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303549   ⟸   XM_047447593
- Peptide Label: isoform X7
- UniProtKB: E7EQD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303550   ⟸   XM_047447594
- Peptide Label: isoform X8
- UniProtKB: E7EQD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201470   ⟸   XM_054345495
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201467   ⟸   XM_054345492
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201472   ⟸   XM_054345497
- Peptide Label: isoform X3
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201471   ⟸   XM_054345496
- Peptide Label: isoform X2
- UniProtKB: A0A590UJR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201466   ⟸   XM_054345491
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201468   ⟸   XM_054345493
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201469   ⟸   XM_054345494
- Peptide Label: isoform X1
- UniProtKB: A0A590UJC5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201474   ⟸   XM_054345499
- Peptide Label: isoform X5
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201473   ⟸   XM_054345498
- Peptide Label: isoform X4
- UniProtKB: A0A590UJR4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201475   ⟸   XM_054345500
- Peptide Label: isoform X6
- UniProtKB: A0A590UJ64 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201476   ⟸   XM_054345501
- Peptide Label: isoform X7
- UniProtKB: E7EQD7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201477   ⟸   XM_054345502
- Peptide Label: isoform X8
- UniProtKB: E7EQD7 (UniProtKB/TrEMBL)
Protein Domains
Disks large homologue 1 N-terminal PEST   Guanylate kinase-like   L27   L27-1   PDZ   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12959-F1-model_v2 AlphaFold Q12959 1-904 view protein structure

Promoters
RGD ID:6866726
Promoter ID:EPDNEW_H6527
Type:initiation region
Name:DLG1_4
Description:discs large MAGUK scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6528  EPDNEW_H6529  EPDNEW_H6530  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,183,628 - 197,183,688EPDNEW
RGD ID:6866728
Promoter ID:EPDNEW_H6528
Type:initiation region
Name:DLG1_2
Description:discs large MAGUK scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6527  EPDNEW_H6529  EPDNEW_H6530  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,298,135 - 197,298,195EPDNEW
RGD ID:6866730
Promoter ID:EPDNEW_H6529
Type:initiation region
Name:DLG1_1
Description:discs large MAGUK scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6527  EPDNEW_H6528  EPDNEW_H6530  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,298,603 - 197,298,663EPDNEW
RGD ID:6866732
Promoter ID:EPDNEW_H6530
Type:initiation region
Name:DLG1_3
Description:discs large MAGUK scaffold protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6527  EPDNEW_H6528  EPDNEW_H6529  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383197,299,317 - 197,299,377EPDNEW
RGD ID:6800853
Promoter ID:HG_KWN:47530
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000314062,   ENST00000357674,   ENST00000359922,   ENST00000381807,   ENST00000392381,   NM_001098424,   NM_004087,   OTTHUMT00000109227,   OTTHUMT00000109228,   OTTHUMT00000109229,   OTTHUMT00000109230,   OTTHUMT00000258166,   OTTHUMT00000258171,   OTTHUMT00000258187,   OTTHUMT00000258192,   OTTHUMT00000340308,   OTTHUMT00000340309,   OTTHUMT00000340310,   OTTHUMT00000340313,   OTTHUMT00000340314,   OTTHUMT00000340318,   UC003FXP.2,   UC010IAL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 363198,509,291 - 198,510,422 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2900 AgrOrtholog
COSMIC DLG1 COSMIC
Ensembl Genes ENSG00000075711 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346964 ENTREZGENE
  ENST00000346964.6 UniProtKB/Swiss-Prot
  ENST00000357674 ENTREZGENE
  ENST00000357674.9 UniProtKB/Swiss-Prot
  ENST00000392380.6 UniProtKB/TrEMBL
  ENST00000392381 ENTREZGENE
  ENST00000392381.7 UniProtKB/TrEMBL
  ENST00000392382.6 UniProtKB/Swiss-Prot
  ENST00000412364.2 UniProtKB/TrEMBL
  ENST00000419227.5 UniProtKB/TrEMBL
  ENST00000419354 ENTREZGENE
  ENST00000419354.5 UniProtKB/Swiss-Prot
  ENST00000419553.6 UniProtKB/TrEMBL
  ENST00000422288 ENTREZGENE
  ENST00000422288.6 UniProtKB/Swiss-Prot
  ENST00000434148.1 UniProtKB/TrEMBL
  ENST00000436682.6 UniProtKB/TrEMBL
  ENST00000443183 ENTREZGENE
  ENST00000443183.5 UniProtKB/Swiss-Prot
  ENST00000447466.1 UniProtKB/TrEMBL
  ENST00000448528 ENTREZGENE
  ENST00000448528.6 UniProtKB/Swiss-Prot
  ENST00000450955.5 UniProtKB/Swiss-Prot
  ENST00000452595 ENTREZGENE
  ENST00000452595.5 UniProtKB/Swiss-Prot
  ENST00000453607.5 UniProtKB/TrEMBL
  ENST00000456699.6 UniProtKB/TrEMBL
  ENST00000469073.2 UniProtKB/TrEMBL
  ENST00000653331 ENTREZGENE
  ENST00000653331.1 UniProtKB/TrEMBL
  ENST00000653795 ENTREZGENE
  ENST00000653795.1 UniProtKB/TrEMBL
  ENST00000654733.1 UniProtKB/TrEMBL
  ENST00000654737.1 UniProtKB/TrEMBL
  ENST00000655488 ENTREZGENE
  ENST00000655488.1 UniProtKB/Swiss-Prot
  ENST00000656087 ENTREZGENE
  ENST00000656087.1 UniProtKB/TrEMBL
  ENST00000656428.1 UniProtKB/TrEMBL
  ENST00000656944 ENTREZGENE
  ENST00000656944.1 UniProtKB/TrEMBL
  ENST00000657098.1 UniProtKB/TrEMBL
  ENST00000657381 ENTREZGENE
  ENST00000657381.1 UniProtKB/TrEMBL
  ENST00000658155.1 UniProtKB/TrEMBL
  ENST00000658701.1 UniProtKB/TrEMBL
  ENST00000659221 ENTREZGENE
  ENST00000659221.1 UniProtKB/TrEMBL
  ENST00000659716 ENTREZGENE
  ENST00000659716.1 UniProtKB/Swiss-Prot
  ENST00000660237.1 UniProtKB/TrEMBL
  ENST00000660432 ENTREZGENE
  ENST00000660432.1 UniProtKB/TrEMBL
  ENST00000660553.1 UniProtKB/TrEMBL
  ENST00000660898 ENTREZGENE
  ENST00000660898.1 UniProtKB/TrEMBL
  ENST00000661013.1 UniProtKB/TrEMBL
  ENST00000661229 ENTREZGENE
  ENST00000661229.1 UniProtKB/TrEMBL
  ENST00000661336 ENTREZGENE
  ENST00000661336.1 UniProtKB/TrEMBL
  ENST00000661440.1 UniProtKB/TrEMBL
  ENST00000661453 ENTREZGENE
  ENST00000661453.1 UniProtKB/Swiss-Prot
  ENST00000661808.1 UniProtKB/TrEMBL
  ENST00000662727 ENTREZGENE
  ENST00000662727.1 UniProtKB/TrEMBL
  ENST00000663148.1 UniProtKB/Swiss-Prot
  ENST00000664564 ENTREZGENE
  ENST00000664564.1 UniProtKB/TrEMBL
  ENST00000664991.1 UniProtKB/TrEMBL
  ENST00000665728.1 UniProtKB/TrEMBL
  ENST00000666007 ENTREZGENE
  ENST00000666007.1 UniProtKB/Swiss-Prot
  ENST00000667104 ENTREZGENE
  ENST00000667104.1 UniProtKB/TrEMBL
  ENST00000667157 ENTREZGENE
  ENST00000667157.1 UniProtKB/Swiss-Prot
  ENST00000667971.1 UniProtKB/TrEMBL
  ENST00000669332.1 UniProtKB/TrEMBL
  ENST00000669565 ENTREZGENE
  ENST00000669565.1 UniProtKB/Swiss-Prot
  ENST00000669714.1 UniProtKB/TrEMBL
  ENST00000670366.1 UniProtKB/TrEMBL
  ENST00000670455 ENTREZGENE
  ENST00000670455.1 UniProtKB/Swiss-Prot
  ENST00000670935 ENTREZGENE
  ENST00000670935.1 UniProtKB/Swiss-Prot
  ENST00000671185 ENTREZGENE
  ENST00000671185.1 UniProtKB/Swiss-Prot
  ENST00000671246 ENTREZGENE
  ENST00000671246.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate Kinase phosphate binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Helix hairpin bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075711 GTEx
HGNC ID HGNC:2900 ENTREZGENE
Human Proteome Map DLG1 Human Proteome Map
InterPro DLG1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DLG1_PEST_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GK/Ca_channel_bsu UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_kinase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Synaptic_Scaffolding_LAP-MAGUK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1739 UniProtKB/Swiss-Prot
NCBI Gene 1739 ENTREZGENE
OMIM 601014 OMIM
PANTHER DISCS LARGE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DISKS LARGE HOMOLOG 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_kin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27356 PharmGKB
PIRSF MAGUK_DLGH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_KINASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_KINASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GuKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  L27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAGUK_N_PEST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF101288 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFT3 ENTREZGENE, UniProtKB/TrEMBL
  A0A3G9CMV0_HUMAN UniProtKB/TrEMBL
  A0A3G9CMW0_HUMAN UniProtKB/TrEMBL
  A0A590UJ08 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJ18_HUMAN UniProtKB/TrEMBL
  A0A590UJ25_HUMAN UniProtKB/TrEMBL
  A0A590UJ29_HUMAN UniProtKB/TrEMBL
  A0A590UJ64 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJ68 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJ81_HUMAN UniProtKB/TrEMBL
  A0A590UJ86_HUMAN UniProtKB/TrEMBL
  A0A590UJ95_HUMAN UniProtKB/TrEMBL
  A0A590UJC5 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJD9 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJE6_HUMAN UniProtKB/TrEMBL
  A0A590UJL2_HUMAN UniProtKB/TrEMBL
  A0A590UJR4 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJR5 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJS9_HUMAN UniProtKB/TrEMBL
  A0A590UJX2 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UJZ4_HUMAN UniProtKB/TrEMBL
  A0A590UK02_HUMAN UniProtKB/TrEMBL
  A0A590UK13_HUMAN UniProtKB/TrEMBL
  A0A590UK31_HUMAN UniProtKB/TrEMBL
  A0A590UK48 ENTREZGENE, UniProtKB/TrEMBL
  A0A590UK52_HUMAN UniProtKB/TrEMBL
  A0A590UK70_HUMAN UniProtKB/TrEMBL
  A0A590UK81_HUMAN UniProtKB/TrEMBL
  A0A590UKA8 ENTREZGENE, UniProtKB/TrEMBL
  A5YKK7 ENTREZGENE
  A8MUT6_HUMAN UniProtKB/TrEMBL
  B4DF78_HUMAN UniProtKB/TrEMBL
  B4DGU1 ENTREZGENE
  B4DGZ8 ENTREZGENE
  B4E2H8_HUMAN UniProtKB/TrEMBL
  B7ZMM0 ENTREZGENE
  B9EIQ5 ENTREZGENE
  C9IYP1_HUMAN UniProtKB/TrEMBL
  C9J110_HUMAN UniProtKB/TrEMBL
  C9JCP6_HUMAN UniProtKB/TrEMBL
  C9JN61_HUMAN UniProtKB/TrEMBL
  C9JUA9_HUMAN UniProtKB/TrEMBL
  D3DXB8 ENTREZGENE
  D3DXB9 ENTREZGENE
  DLG1_HUMAN UniProtKB/Swiss-Prot
  E7EQD7 ENTREZGENE, UniProtKB/TrEMBL
  E7EWL7 ENTREZGENE
  E9PG21 ENTREZGENE
  F2Z2L0_HUMAN UniProtKB/TrEMBL
  H7C166_HUMAN UniProtKB/TrEMBL
  L8E7Z2_HUMAN UniProtKB/TrEMBL
  Q12958 ENTREZGENE
  Q12959 ENTREZGENE
  Q6PJH1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A5YKK7 UniProtKB/Swiss-Prot
  B4DGU1 UniProtKB/Swiss-Prot
  B4DGZ8 UniProtKB/Swiss-Prot
  B7ZMM0 UniProtKB/Swiss-Prot
  B9EIQ5 UniProtKB/Swiss-Prot
  D3DXB8 UniProtKB/Swiss-Prot
  D3DXB9 UniProtKB/Swiss-Prot
  E7EWL7 UniProtKB/Swiss-Prot
  E9PG21 UniProtKB/Swiss-Prot
  Q12958 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-31 DLG1  discs large MAGUK scaffold protein 1    discs large homolog 1, scribble cell polarity complex component  Symbol and/or name change 5135510 APPROVED
2016-02-29 DLG1  discs large homolog 1, scribble cell polarity complex component    discs large homolog 1  Symbol and/or name change 5135510 APPROVED
2016-01-26 DLG1  discs large homolog 1    discs, large homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED