TUBB3 (tubulin beta 3 class III) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TUBB3 (tubulin beta 3 class III) Homo sapiens
Analyze
Symbol: TUBB3
Name: tubulin beta 3 class III
RGD ID: 1347965
HGNC Page HGNC
Description: Exhibits netrin receptor binding activity. Involved in axon guidance and dorsal root ganglion development. Localizes to microtubule. Implicated in complex cortical dysplasia with other brain malformations 1 and congenital fibrosis of the extraocular muscles.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-4; CDCBM; CDCBM1; CFEOM3; CFEOM3A; class III beta-tubulin; FEOM3; fibrosis of extraocular muscles, congenital, 3; MC1R; TUBB4; tubulin beta-3 chain; tubulin beta-4 chain; tubulin beta-III; tubulin, beta 3; tubulin, beta 3 class III; tubulin, beta, 4
RGD Orthologs
Mouse
Rat
Dog
Squirrel
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TUBB3P1   TUBB3P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1689,921,392 - 89,938,761 (+)EnsemblGRCh38hg38GRCh38
GRCh381689,921,925 - 89,936,097 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371689,988,333 - 90,002,505 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,517,246 - 88,530,006 (+)NCBINCBI36hg18NCBI36
Build 341688,517,245 - 88,530,006NCBI
Celera1675,054,835 - 75,067,595 (+)NCBI
Cytogenetic Map16q24.3NCBI
HuRef1675,681,526 - 75,695,522 (+)NCBIHuRef
CHM1_11691,400,537 - 91,414,621 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-demecolcine  (EXP)
(S)-amphetamine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
3',5'-cyclic AMP  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (EXP)
4-phenylbutyric acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
abamectin  (ISO)
acrylamide  (EXP)
all-trans-retinoic acid  (EXP,ISO)
aluminium atom  (ISO)
aluminium(0)  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid  (EXP)
atorvastatin calcium  (ISO)
Azaspiracid  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
CHIR 99021  (ISO)
chlordecone  (ISO)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
cisplatin  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
curcumin  (ISO)
cyclosporin A  (EXP)
cyhalothrin  (ISO)
cypermethrin  (EXP)
cytarabine  (EXP)
DAPT  (ISO)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethyl sulfoxide  (EXP)
dinophysistoxin 1  (EXP)
disulfiram  (EXP)
Doramectin  (ISO)
elemental selenium  (EXP)
emodin  (EXP)
endosulfan  (ISO)
enniatin  (EXP)
ethanol  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
glutathione  (EXP)
glyphosate  (EXP)
heptachlor  (ISO)
indometacin  (EXP)
iohexol  (EXP)
iopamidol  (EXP)
kaempferol  (ISO)
L-ascorbic acid  (EXP)
lead tetraacetate  (ISO)
methylmercury chloride  (EXP,ISO)
monocrotaline  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (EXP)
paracetamol  (ISO)
PD123319  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl isothiocyanate  (EXP)
phenol red  (EXP)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
progesterone  (ISO)
rotenone  (ISO)
Salidroside  (ISO)
Salinomycin  (EXP)
sarin  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP,ISO)
SKF-96365 hydrochloride  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamibarotene  (ISO)
tamoxifen  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (EXP)
titanium dioxide  (EXP)
tributylstannane  (ISO)
triclosan  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vincristine  (EXP)
vitamin E  (EXP)
WIN 55212-2  (EXP)
XL147  (ISO)
zinc atom  (EXP,ISO)
zinc(0)  (EXP,ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal autonomic nervous system physiology  (IAGP)
Abnormal best corrected visual acuity test  (IAGP)
Abnormal saccadic eye movements  (IAGP)
Abnormality of thalamus morphology  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agenesis of the anterior commissure  (IAGP)
Amblyopia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral ptosis  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Camptodactyly of finger  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Compensatory chin elevation  (IAGP)
Congenital fibrosis of extraocular muscles  (IAGP)
Congenital onset  (IAGP)
Cortical dysplasia  (IAGP)
Cubitus valgus  (IAGP)
Delayed ability to sit  (IAGP)
Delayed fine motor development  (IAGP)
Delayed social development  (IAGP)
Dilation of lateral ventricles  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dysarthria  (IAGP)
Dysgenesis of the hippocampus  (IAGP)
Epicanthus  (IAGP)
Esotropia  (IAGP)
Exotropia  (IAGP)
Expressive language delay  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flat occiput  (IAGP)
Focal-onset seizure  (IAGP)
Genu valgum  (IAGP)
Global developmental delay  (IAGP)
Grasp reflex  (IAGP)
High palate  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the olfactory bulb  (IAGP)
Impaired mastication  (IAGP)
Impaired social interactions  (IAGP)
Inability to walk  (IAGP)
Infantile axial hypotonia  (IAGP)
Insomnia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Joint contracture of the hand  (IAGP)
Joint laxity  (IAGP)
Kyphoscoliosis  (IAGP)
Large basal ganglia  (IAGP)
Levator palpebrae superioris atrophy  (IAGP)
Lissencephaly  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Metatarsus adductus  (IAGP)
Microcephaly  (IAGP)
Micrognathia  (IAGP)
Mood changes  (IAGP)
Muscular hypotonia of the trunk  (IAGP)
Nonprogressive restrictive external ophthalmoplegia  (IAGP)
Normal pressure hydrocephalus  (IAGP)
Nystagmus  (IAGP)
Oculomotor apraxia  (IAGP)
Optic nerve hypoplasia  (IAGP)
Partial agenesis of the corpus callosum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Plagiocephaly  (IAGP)
Polymicrogyria  (IAGP)
Poor speech  (IAGP)
Postnatal growth retardation  (IAGP)
Primary microcephaly  (IAGP)
Prostate cancer  (IAGP)
Ptosis  (IAGP)
Seizure  (IAGP)
Severe global developmental delay  (IAGP)
Short attention span  (IAGP)
Short foot  (IAGP)
Simplified gyral pattern  (IAGP)
Small basal ganglia  (IAGP)
Small hand  (IAGP)
Spastic ataxia  (IAGP)
Spastic diplegia  (IAGP)
Spastic tetraplegia  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Stereotypy  (IAGP)
Strabismus  (IAGP)
Superior rectus atrophy  (IAGP)
Thoracic scoliosis  (IAGP)
Torticollis  (IAGP)
Type II lissencephaly  (IAGP)
Variable expressivity  (IAGP)
Visual loss  (IAGP)
Wrist flexion contracture  (IAGP)
References

Additional References at PubMed
PMID:2461292   PMID:3459176   PMID:7789418   PMID:8098743   PMID:8125298   PMID:8619990   PMID:9473684   PMID:10191277   PMID:10393037   PMID:10908577   PMID:12477932   PMID:12486001  
PMID:12789263   PMID:12905530   PMID:14702039   PMID:14744259   PMID:15203218   PMID:15303970   PMID:15331610   PMID:15489334   PMID:15671559   PMID:15691386   PMID:15698476   PMID:16061864  
PMID:16169070   PMID:16344560   PMID:16526095   PMID:16675570   PMID:16816122   PMID:17289895   PMID:17360745   PMID:17406983   PMID:17543088   PMID:17620599   PMID:17671431   PMID:17714470  
PMID:18029348   PMID:18178340   PMID:18379434   PMID:18435451   PMID:18497984   PMID:18613978   PMID:18645017   PMID:18784752   PMID:18946987   PMID:18977553   PMID:19059912   PMID:19074767  
PMID:19122647   PMID:19322201   PMID:19360438   PMID:19380743   PMID:19405953   PMID:19454010   PMID:19690549   PMID:19724850   PMID:19828208   PMID:19899405   PMID:20021611   PMID:20074521  
PMID:20087230   PMID:20111909   PMID:20220512   PMID:20301522   PMID:20393110   PMID:20403547   PMID:20406197   PMID:20409569   PMID:20467437   PMID:20473970   PMID:20534991   PMID:20587520  
PMID:20829227   PMID:20868593   PMID:20877724   PMID:20890123   PMID:21044950   PMID:21045157   PMID:21059598   PMID:21071418   PMID:21145461   PMID:21163067   PMID:21289518   PMID:21315408  
PMID:21520077   PMID:21525035   PMID:21528130   PMID:21532586   PMID:21565611   PMID:21586171   PMID:21630459   PMID:21781528   PMID:21820201   PMID:21873635   PMID:21900206   PMID:21988832  
PMID:22159867   PMID:22174317   PMID:22180309   PMID:22199357   PMID:22209775   PMID:22266860   PMID:22268729   PMID:22337587   PMID:22358390   PMID:22438565   PMID:22502701   PMID:22684772  
PMID:22740207   PMID:22766748   PMID:22863883   PMID:22939629   PMID:23218766   PMID:23349634   PMID:23378218   PMID:23402259   PMID:23443559   PMID:23454725   PMID:23463506   PMID:23532817  
PMID:23533145   PMID:23585021   PMID:23667531   PMID:23703321   PMID:23810210   PMID:23817083   PMID:23826228   PMID:23853246   PMID:23869586   PMID:23902687   PMID:23941826   PMID:23956138  
PMID:24021646   PMID:24053422   PMID:24113009   PMID:24232867   PMID:24251416   PMID:24337577   PMID:24374158   PMID:24612975   PMID:24614595   PMID:24661907   PMID:24705847   PMID:24706829  
PMID:24722794   PMID:24762590   PMID:24894670   PMID:24905733   PMID:25039376   PMID:25130963   PMID:25244496   PMID:25324306   PMID:25414139   PMID:25416788   PMID:25476789   PMID:25482575  
PMID:25499913   PMID:25544769   PMID:25559402   PMID:25661915   PMID:25724666   PMID:25740311   PMID:25798074   PMID:25864199   PMID:25894372   PMID:25921289   PMID:25944111   PMID:25963833  
PMID:25964544   PMID:26165688   PMID:26186194   PMID:26198101   PMID:26209609   PMID:26217791   PMID:26252353   PMID:26317901   PMID:26344197   PMID:26389662   PMID:26406408   PMID:26416565  
PMID:26426765   PMID:26460568   PMID:26490262   PMID:26496610   PMID:26583432   PMID:26586574   PMID:26591579   PMID:26618866   PMID:26639658   PMID:26657157   PMID:26673895   PMID:26687479  
PMID:26777405   PMID:26816005   PMID:26826352   PMID:26831064   PMID:26972000   PMID:27010057   PMID:27025967   PMID:27046833   PMID:27070645   PMID:27129203   PMID:27129302   PMID:27188792  
PMID:27207668   PMID:27284014   PMID:27428177   PMID:27586205   PMID:27591049   PMID:27609421   PMID:27664236   PMID:27684187   PMID:28024114   PMID:28025079   PMID:28056823   PMID:28075472  
PMID:28180282   PMID:28275089   PMID:28302793   PMID:28378594   PMID:28397704   PMID:28483977   PMID:28514442   PMID:28640948   PMID:28648944   PMID:28977470   PMID:29022485   PMID:29053956  
PMID:29117863   PMID:29229926   PMID:29285303   PMID:29293652   PMID:29331416   PMID:29339176   PMID:29382549   PMID:29395067   PMID:29467282   PMID:29491095   PMID:29491746   PMID:29507755  
PMID:29563501   PMID:29568061   PMID:29802200   PMID:29845934   PMID:29898993   PMID:29955894   PMID:30166453   PMID:30258100   PMID:30425250   PMID:30442766   PMID:30570863   PMID:30575818  
PMID:30583584   PMID:30674344   PMID:30711942   PMID:30809309   PMID:30833792   PMID:30865227   PMID:31010829   PMID:31048545   PMID:31091453   PMID:31180492   PMID:31187490   PMID:31226147  
PMID:31302631   PMID:31343991   PMID:31462707   PMID:31473790   PMID:31478661   PMID:31501420   PMID:31541710   PMID:31586073   PMID:31658275   PMID:31669268   PMID:31678930   PMID:31685807  
PMID:31980649   PMID:31992359   PMID:32121295   PMID:32169460   PMID:32310826   PMID:32522106   PMID:32573066   PMID:32585672   PMID:32780723   PMID:33252195   PMID:33822514  


Genomics

Comparative Map Data
TUBB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1689,921,392 - 89,938,761 (+)EnsemblGRCh38hg38GRCh38
GRCh381689,921,925 - 89,936,097 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371689,988,333 - 90,002,505 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361688,517,246 - 88,530,006 (+)NCBINCBI36hg18NCBI36
Build 341688,517,245 - 88,530,006NCBI
Celera1675,054,835 - 75,067,595 (+)NCBI
Cytogenetic Map16q24.3NCBI
HuRef1675,681,526 - 75,695,522 (+)NCBIHuRef
CHM1_11691,400,537 - 91,414,621 (+)NCBICHM1_1
Tubb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398124,138,292 - 124,148,754 (+)NCBIGRCm39mm39
GRCm39 Ensembl8124,138,163 - 124,148,754 (+)Ensembl
GRCm388123,411,553 - 123,422,015 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8123,411,424 - 123,422,015 (+)EnsemblGRCm38mm10GRCm38
MGSCv378125,935,464 - 125,945,910 (+)NCBIGRCm37mm9NCBIm37
MGSCv368126,297,654 - 126,308,100 (+)NCBImm8
Celera8127,654,088 - 127,664,534 (+)NCBICelera
Cytogenetic Map8E1NCBI
Tubb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21951,457,187 - 51,466,243 (+)NCBI
Rnor_6.0 Ensembl1956,220,755 - 56,229,813 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01956,220,759 - 56,229,813 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01966,931,880 - 66,940,930 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41953,742,652 - 53,751,706 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.14155,058,769 - 155,059,105 (+)NCBI
Celera1950,689,724 - 50,698,713 (+)NCBICelera
Cytogenetic Map19q12NCBI
TUBB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1563,681,765 - 63,690,898 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl563,681,752 - 63,729,684 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha563,694,960 - 63,704,093 (-)NCBI
ROS_Cfam_1.0563,909,742 - 63,918,874 (-)NCBI
UMICH_Zoey_3.1563,930,270 - 63,939,401 (-)NCBI
UNSW_CanFamBas_1.0563,767,793 - 63,776,934 (-)NCBI
UU_Cfam_GSD_1.0564,174,159 - 64,183,292 (-)NCBI
Tubb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934924,431,189 - 24,440,321 (-)NCBI
SpeTri2.0NW_004936641184,736 - 193,835 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
Tubb3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624746124,014 - 130,476 (-)NCBI

Position Markers
M73K  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371689,985,768 - 89,986,067UniSTSGRCh37
Build 361688,513,269 - 88,513,568RGDNCBI36
Celera1675,050,858 - 75,051,157RGD
HuRef1675,678,877 - 75,679,176UniSTS
PMC156124P3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371690,001,455 - 90,001,752UniSTSGRCh37
GRCh37196,495,617 - 6,495,914UniSTSGRCh37
Build 361688,528,956 - 88,529,253RGDNCBI36
Celera1675,066,545 - 75,066,842RGD
Celera196,435,437 - 6,435,734UniSTS
HuRef196,258,351 - 6,258,648UniSTS
HuRef1675,694,472 - 75,694,769UniSTS
RH65809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371690,002,225 - 90,002,366UniSTSGRCh37
Build 361688,529,726 - 88,529,867RGDNCBI36
Celera1675,067,315 - 75,067,456RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,695,242 - 75,695,383UniSTS
GeneMap99-GB4 RH Map16501.46UniSTS
NCBI RH Map16689.2UniSTS
SHGC-60611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371690,002,348 - 90,002,503UniSTSGRCh37
Build 361688,529,849 - 88,530,004RGDNCBI36
Celera1675,067,438 - 75,067,593RGD
Cytogenetic Map16q24.3UniSTS
HuRef1675,695,365 - 75,695,520UniSTS
GeneMap99-GB4 RH Map16503.63UniSTS
Whitehead-RH Map16357.3UniSTS
NCBI RH Map16689.2UniSTS
RH65263  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map18p11.21UniSTS
GeneMap99-GB4 RH Map16503.63UniSTS
NCBI RH Map16689.2UniSTS
GDB:312714  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map22q12.2UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR200Chsa-miR-200c-3pMirtarbaseexternal_infoELISA//Immunoblot//Immunocytochemistry//LuciferaseFunctional MTI19435871
MIR200Chsa-miR-200c-3pMirtarbaseexternal_infoWestern blotFunctional MTI20049172
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA23394580
MIR200Chsa-miR-200c-3pOncomiRDBexternal_infoNANA19435871

Predicted Target Of
Summary Value
Count of predictions:5091
Count of miRNA genes:1016
Interacting mature miRNAs:1251
Transcripts:ENST00000304984, ENST00000315491, ENST00000553656, ENST00000553967, ENST00000554116, ENST00000554336, ENST00000554444, ENST00000554927, ENST00000555576, ENST00000555609, ENST00000555810, ENST00000556536, ENST00000556565, ENST00000556922, ENST00000557262, ENST00000557490
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 592 53 407 42 61 12 222 157 2900 25 446 187 37 1 42 86
Low 1765 1787 883 170 550 66 3079 1166 830 204 885 1306 115 1030 1761 6 1
Below cutoff 79 1134 321 301 1154 278 1053 865 4 139 121 110 23 132 939

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001197181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC092143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF427491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK058140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU142509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD621827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA054466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U47634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000315491   ⟹   ENSP00000320295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,342 - 89,936,097 (+)Ensembl
RefSeq Acc Id: ENST00000553656   ⟹   ENSP00000452001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,338 - 89,934,798 (+)Ensembl
RefSeq Acc Id: ENST00000553967   ⟹   ENSP00000450765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,366 - 89,934,001 (+)Ensembl
RefSeq Acc Id: ENST00000554116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,345 - 89,932,108 (+)Ensembl
RefSeq Acc Id: ENST00000554336   ⟹   ENSP00000450822
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,354 - 89,934,301 (+)Ensembl
RefSeq Acc Id: ENST00000554444   ⟹   ENSP00000451617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,921,851 - 89,936,091 (+)Ensembl
RefSeq Acc Id: ENST00000554927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,345 - 89,933,017 (+)Ensembl
RefSeq Acc Id: ENST00000555576   ⟹   ENSP00000452554
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,345 - 89,938,761 (+)Ensembl
RefSeq Acc Id: ENST00000555609   ⟹   ENSP00000451276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,359 - 89,936,010 (+)Ensembl
RefSeq Acc Id: ENST00000555810   ⟹   ENSP00000450538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,921,392 - 89,935,235 (+)Ensembl
RefSeq Acc Id: ENST00000556536   ⟹   ENSP00000451378
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,342 - 89,935,070 (+)Ensembl
RefSeq Acc Id: ENST00000556565   ⟹   ENSP00000452166
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,921,916 - 89,934,806 (+)Ensembl
RefSeq Acc Id: ENST00000557262   ⟹   ENSP00000451985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,345 - 89,934,138 (+)Ensembl
RefSeq Acc Id: ENST00000557490   ⟹   ENSP00000451465
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,345 - 89,934,971 (+)Ensembl
RefSeq Acc Id: ENST00000625617   ⟹   ENSP00000485859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,923,279 - 89,934,499 (+)Ensembl
RefSeq Acc Id: ENST00000680647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,930,265 - 89,933,973 (+)Ensembl
RefSeq Acc Id: ENST00000680788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1689,929,093 - 89,936,092 (+)Ensembl
RefSeq Acc Id: NM_001197181   ⟹   NP_001184110
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,921,925 - 89,936,097 (+)NCBI
GRCh371689,988,417 - 90,002,505 (+)ENTREZGENE
HuRef1675,681,526 - 75,695,522 (+)ENTREZGENE
CHM1_11691,400,537 - 91,414,621 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006086   ⟹   NP_006077
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,923,342 - 89,936,097 (+)NCBI
GRCh371689,988,417 - 90,002,505 (+)ENTREZGENE
Build 361688,517,246 - 88,530,006 (+)NCBI Archive
HuRef1675,681,526 - 75,695,522 (+)ENTREZGENE
CHM1_11691,401,807 - 91,414,621 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001184110   ⟸   NM_001197181
- Peptide Label: isoform 2
- UniProtKB: Q13509 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_006077   ⟸   NM_006086
- Peptide Label: isoform 1
- UniProtKB: Q13509 (UniProtKB/Swiss-Prot),   Q53G92 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000450538   ⟸   ENST00000555810
RefSeq Acc Id: ENSP00000451276   ⟸   ENST00000555609
RefSeq Acc Id: ENSP00000452554   ⟸   ENST00000555576
RefSeq Acc Id: ENSP00000452166   ⟸   ENST00000556565
RefSeq Acc Id: ENSP00000451378   ⟸   ENST00000556536
RefSeq Acc Id: ENSP00000451985   ⟸   ENST00000557262
RefSeq Acc Id: ENSP00000451465   ⟸   ENST00000557490
RefSeq Acc Id: ENSP00000485859   ⟸   ENST00000625617
RefSeq Acc Id: ENSP00000320295   ⟸   ENST00000315491
RefSeq Acc Id: ENSP00000452001   ⟸   ENST00000553656
RefSeq Acc Id: ENSP00000450765   ⟸   ENST00000553967
RefSeq Acc Id: ENSP00000451617   ⟸   ENST00000554444
RefSeq Acc Id: ENSP00000450822   ⟸   ENST00000554336
Protein Domains
Tubulin   Tubulin_C

Promoters
RGD ID:6793528
Promoter ID:HG_KWN:24547
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002FPF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,511,921 - 88,512,767 (+)MPROMDB
RGD ID:6793529
Promoter ID:HG_KWN:24548
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   NB4
Transcripts:UC010CIZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,515,126 - 88,515,917 (+)MPROMDB
RGD ID:6793534
Promoter ID:HG_KWN:24549
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000272874,   UC002FPG.1,   UC002FPI.1,   UC010CJA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,516,416 - 88,517,352 (+)MPROMDB
RGD ID:6851294
Promoter ID:EP73445
Type:multiple initiation site
Name:HS_TUBB4
Description:Tubulin, beta, 4.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361688,517,254 - 88,517,314EPD
RGD ID:7233201
Promoter ID:EPDNEW_H22345
Type:multiple initiation site
Name:TUBB3_1
Description:tubulin beta 3 class III
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381689,923,345 - 89,923,405EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000007378]|not provided [RCV000254974] Chr16:89935235 [GRCh38]
Chr16:90001643 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000007379]|not provided [RCV000386199] Chr16:89935355 [GRCh38]
Chr16:90001763 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000007380] Chr16:89935700 [GRCh38]
Chr16:90002108 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000007381] Chr16:89935700 [GRCh38]
Chr16:90002108 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000194090]|Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000007382]|TUBB3-Releated Disorders [RCV001267650] Chr16:89935679 [GRCh38]
Chr16:90002087 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 copy number loss See cases [RCV000050374] Chr16:89830573..90044855 [GRCh38]
Chr16:89896981..90111263 [GRCh37]
Chr16:88424482..88638764 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89730086-90081985)x1 copy number loss See cases [RCV000052022] Chr16:89730086..90081985 [GRCh38]
Chr16:89796494..90148393 [GRCh37]
Chr16:88323995..88675894 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q24.3(chr16:89791645-90000807)x1 copy number loss See cases [RCV000052023] Chr16:89791645..90000807 [GRCh38]
Chr16:89858053..90067215 [GRCh37]
Chr16:88385554..88594716 [NCBI36]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 copy number gain See cases [RCV000052423] Chr16:76873569..90081985 [GRCh38]
Chr16:76907466..90148393 [GRCh37]
Chr16:75464967..88675894 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 copy number gain See cases [RCV000052424] Chr16:82173150..90081985 [GRCh38]
Chr16:82206755..90148393 [GRCh37]
Chr16:80764256..88675894 [NCBI36]
Chr16:16q23.3-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] Chr16:84707538..90081985 [GRCh38]
Chr16:84741144..90148393 [GRCh37]
Chr16:83298645..88675894 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87853401-90081985)x3 copy number gain See cases [RCV000052428] Chr16:87853401..90081985 [GRCh38]
Chr16:87887007..90148393 [GRCh37]
Chr16:86444508..88675894 [NCBI36]
Chr16:16q24.2-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89665706-90081985)x3 copy number gain See cases [RCV000053937] Chr16:89665706..90081985 [GRCh38]
Chr16:89732114..90148393 [GRCh37]
Chr16:88259615..88675894 [NCBI36]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.716C>T (p.Ser239Phe) single nucleotide variant not provided [RCV000657952] Chr16:89935167 [GRCh38]
Chr16:90001575 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.967A>G (p.Met323Val) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000023202] Chr16:89935418 [GRCh38]
Chr16:90001826 [GRCh37]
Chr16:16q24.3
pathogenic
TUBB3, THR178MET single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000023203]|Cortical dysplasia, complex, with other brain malformations [RCV000023203] Chr16:16q24.3 pathogenic
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000023204]|not provided [RCV001092320] Chr16:89935064 [GRCh38]
Chr16:90001472 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.905C>T (p.Ala302Val) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000023205] Chr16:89935356 [GRCh38]
Chr16:90001764 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.277+8C>T single nucleotide variant not specified [RCV000147850] Chr16:89933586 [GRCh38]
Chr16:89999994 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.702C>T (p.Ser234=) single nucleotide variant not specified [RCV000147855] Chr16:89935153 [GRCh38]
Chr16:90001561 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=) single nucleotide variant not provided [RCV000953364]|not specified [RCV000147847] Chr16:89935666 [GRCh38]
Chr16:90002074 [GRCh37]
Chr16:16q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_006086.4(TUBB3):c.1170G>A (p.Arg390=) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147846] Chr16:89935621 [GRCh38]
Chr16:90002029 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1331C>T (p.Ser444Leu) single nucleotide variant not specified [RCV000147848] Chr16:89935782 [GRCh38]
Chr16:90002190 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.167-6C>T single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147849] Chr16:89933462 [GRCh38]
Chr16:89999870 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147851]|Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000203608]|not provided [RCV000255388] Chr16:89934743 [GRCh38]
Chr16:90001151 [GRCh37]
Chr16:16q24.3
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.58-22C>T single nucleotide variant not specified [RCV000147852] Chr16:89932549 [GRCh38]
Chr16:89998957 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.58-49C>T single nucleotide variant not specified [RCV000147853] Chr16:89932522 [GRCh38]
Chr16:89998930 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.666C>T (p.Tyr222=) single nucleotide variant not provided [RCV000900037]|not specified [RCV000147854] Chr16:89935117 [GRCh38]
Chr16:90001525 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147856]|Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000764099] Chr16:89935179 [GRCh38]
Chr16:90001587 [GRCh37]
Chr16:16q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.740A>G (p.Asn247Ser) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147857] Chr16:89935191 [GRCh38]
Chr16:90001599 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.993G>A (p.Leu331=) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000147858] Chr16:89935444 [GRCh38]
Chr16:90001852 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 copy number gain See cases [RCV000135659] Chr16:83988570..90081985 [GRCh38]
Chr16:84022175..90148393 [GRCh37]
Chr16:82579676..88675894 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 copy number gain See cases [RCV000136898] Chr16:80946659..90081985 [GRCh38]
Chr16:80980556..90148393 [GRCh37]
Chr16:79538057..88675894 [NCBI36]
Chr16:16q23.2-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 copy number gain See cases [RCV000137495] Chr16:70749398..90096995 [GRCh38]
Chr16:70783301..90163403 [GRCh37]
Chr16:69340802..88690904 [NCBI36]
Chr16:16q22.1-24.3
pathogenic
GRCh38/hg38 16q24.2-24.3(chr16:87848216-90096995)x3 copy number gain See cases [RCV000138161] Chr16:87848216..90096995 [GRCh38]
Chr16:87881822..90163403 [GRCh37]
Chr16:86439323..88690904 [NCBI36]
Chr16:16q24.2-24.3
likely pathogenic
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 copy number gain See cases [RCV000137980] Chr16:83478453..89932910 [GRCh38]
Chr16:83512058..89999318 [GRCh37]
Chr16:82069559..88526819 [NCBI36]
Chr16:16q23.3-24.3
likely pathogenic
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 copy number gain See cases [RCV000139302] Chr16:75377981..90081992 [GRCh38]
Chr16:75411879..90148400 [GRCh37]
Chr16:73969380..88675901 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 copy number gain See cases [RCV000139658] Chr16:85552976..90096995 [GRCh38]
Chr16:85586582..90163403 [GRCh37]
Chr16:84144083..88690904 [NCBI36]
Chr16:16q24.1-24.3
pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 copy number gain See cases [RCV000141128] Chr16:80717291..90096662 [GRCh38]
Chr16:80751188..90163070 [GRCh37]
Chr16:79308689..88690571 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 copy number gain See cases [RCV000141700] Chr16:76336203..90088654 [GRCh38]
Chr16:76370100..90155062 [GRCh37]
Chr16:74927601..88682563 [NCBI36]
Chr16:16q23.1-24.3
pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3
pathogenic|likely pathogenic
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 copy number gain See cases [RCV000142698] Chr16:80067315..90057871 [GRCh38]
Chr16:80101212..90124279 [GRCh37]
Chr16:78658713..88651780 [NCBI36]
Chr16:16q23.2-24.3
pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3
pathogenic
GRCh38/hg38 16q24.3(chr16:89830573-90044855)x1 copy number loss See cases [RCV000148110] Chr16:89830573..90044855 [GRCh38]
Chr16:89896981..90111263 [GRCh37]
Chr16:88424482..88638764 [NCBI36]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1172G>T (p.Arg391Leu) single nucleotide variant not provided [RCV000254819] Chr16:89935623 [GRCh38]
Chr16:90002031 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.921C>T (p.His307=) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV001335375]|not provided [RCV000724458]|not specified [RCV000178257] Chr16:89935372 [GRCh38]
Chr16:90001780 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.1287G>A (p.Thr429=) single nucleotide variant not provided [RCV000891842]|not specified [RCV000194746] Chr16:89935738 [GRCh38]
Chr16:90002146 [GRCh37]
Chr16:16q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 16q24.3(chr16:89836157-90127980)x1 copy number loss See cases [RCV000240112] Chr16:89836157..90127980 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.190A>G (p.Ile64Val) single nucleotide variant not specified [RCV000192764] Chr16:89933491 [GRCh38]
Chr16:89999899 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.946G>A (p.Val316Met) single nucleotide variant not specified [RCV000193882] Chr16:89935397 [GRCh38]
Chr16:90001805 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 copy number gain See cases [RCV000240108] Chr16:74872514..90274440 [GRCh37]
Chr16:16q23.1-24.3
pathogenic
t(5;16)(p15.31;q23.1) translocation not provided [RCV000203391] Chr5:1..8180513 [GRCh37]
Chr16:76935310..90354753 [GRCh37]
Chr5:5p15.33-15.31
Chr16:16q23.1-24.3
likely pathogenic
NM_006086.4(TUBB3):c.1200C>T (p.Gly400=) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000258316] Chr16:89935651 [GRCh38]
Chr16:90002059 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1288G>C (p.Ala430Pro) single nucleotide variant Malignant tumor of prostate [RCV000206304] Chr16:89935739 [GRCh38]
Chr16:90002147 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000203606]|not provided [RCV000301357] Chr16:89933512 [GRCh38]
Chr16:89999920 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000203607]|TUBB3-related tubulinopathy [RCV001270742]|not provided [RCV000519071] Chr16:89935236 [GRCh38]
Chr16:90001644 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000203610] Chr16:89933486 [GRCh38]
Chr16:89999894 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000203611]|Inborn genetic diseases [RCV001267589]|not provided [RCV000255747] Chr16:89935589 [GRCh38]
Chr16:90001997 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3
uncertain significance
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 copy number loss Ductal breast carcinoma [RCV000207182] Chr16:72107834..90142285 [GRCh37]
Chr16:16q22.2-24.3
uncertain significance
c.1228G>A variation Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000210368] Chr16:16q24.3 pathogenic
Single allele complex Ductal breast carcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3
uncertain significance
NM_006086.4(TUBB3):c.1162A>G (p.Met388Val) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000225239] Chr16:89935613 [GRCh38]
Chr16:90002021 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh37/hg19 16q24.3(chr16:89696893-90103214)x3 copy number gain See cases [RCV000240330] Chr16:89696893..90103214 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.533C>T (p.Thr178Met) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000023203]|Inborn genetic diseases [RCV000624084]|not provided [RCV000254864] Chr16:89934984 [GRCh38]
Chr16:90001392 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.1169G>C (p.Arg390Pro) single nucleotide variant not provided [RCV000315449] Chr16:89935620 [GRCh38]
Chr16:90002028 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu) single nucleotide variant not provided [RCV000386583] Chr16:89935140 [GRCh38]
Chr16:90001548 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_006086.4(TUBB3):c.357G>A (p.Val119=) single nucleotide variant not provided [RCV000725127]|not specified [RCV000326091] Chr16:89934808 [GRCh38]
Chr16:90001216 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.507C>T (p.Val169=) single nucleotide variant not provided [RCV000331671] Chr16:89934958 [GRCh38]
Chr16:90001366 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.606C>T (p.Ile202=) single nucleotide variant not provided [RCV000725014]|not specified [RCV000370232] Chr16:89935057 [GRCh38]
Chr16:90001465 [GRCh37]
Chr16:16q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006086.4(TUBB3):c.834C>G (p.Ser278Arg) single nucleotide variant not provided [RCV000489711] Chr16:89935285 [GRCh38]
Chr16:90001693 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.166+12C>T single nucleotide variant not specified [RCV000606763] Chr16:89932691 [GRCh38]
Chr16:89999099 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1156A>T (p.Thr386Ser) single nucleotide variant not provided [RCV001092321] Chr16:89935607 [GRCh38]
Chr16:90002015 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000415062] Chr16:89935433 [GRCh38]
Chr16:90001841 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.763G>A (p.Val255Ile) single nucleotide variant not provided [RCV000412886] Chr16:89935214 [GRCh38]
Chr16:90001622 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.614A>C (p.Glu205Ala) single nucleotide variant not provided [RCV000413256] Chr16:89935065 [GRCh38]
Chr16:90001473 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.71T>C (p.Ile24Thr) single nucleotide variant not provided [RCV000729110] Chr16:89932584 [GRCh38]
Chr16:89998992 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000824822]|not provided [RCV000422965] Chr16:89935313 [GRCh38]
Chr16:90001721 [GRCh37]
Chr16:16q24.3
pathogenic|likely pathogenic
NM_006086.4(TUBB3):c.1113C>T (p.Ser371=) single nucleotide variant not specified [RCV000442957] Chr16:89935564 [GRCh38]
Chr16:90001972 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.741C>T (p.Asn247=) single nucleotide variant not specified [RCV000429003] Chr16:89935192 [GRCh38]
Chr16:90001600 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.109G>A (p.Val37Met) single nucleotide variant not provided [RCV000432537] Chr16:89932622 [GRCh38]
Chr16:89999030 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.167-5C>G single nucleotide variant not provided [RCV000887231]|not specified [RCV000443702] Chr16:89933463 [GRCh38]
Chr16:89999871 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_006086.4(TUBB3):c.1317C>T (p.Asp439=) single nucleotide variant not provided [RCV000974543]|not specified [RCV000440247] Chr16:89935768 [GRCh38]
Chr16:90002176 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.855C>T (p.Thr285=) single nucleotide variant not provided [RCV000919203]|not specified [RCV000429950] Chr16:89935306 [GRCh38]
Chr16:90001714 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q24.3(chr16:89880964-90133246)x3 copy number gain See cases [RCV000448757] Chr16:89880964..90133246 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.766A>T (p.Asn256Tyr) single nucleotide variant not provided [RCV000479424] Chr16:89935217 [GRCh38]
Chr16:90001625 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1081C>A (p.Leu361Ile) single nucleotide variant not provided [RCV000486752] Chr16:89935532 [GRCh38]
Chr16:90001940 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.845G>C (p.Arg282Pro) single nucleotide variant not provided [RCV000480489] Chr16:89935296 [GRCh38]
Chr16:90001704 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.1195A>T (p.Thr399Ser) single nucleotide variant not specified [RCV000503348] Chr16:89935646 [GRCh38]
Chr16:90002054 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1206C>T (p.Gly402=) single nucleotide variant not specified [RCV000503382] Chr16:89935657 [GRCh38]
Chr16:90002065 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.435C>T (p.Ser145=) single nucleotide variant not provided [RCV000905556]|not specified [RCV000499837] Chr16:89934886 [GRCh38]
Chr16:90001294 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.1023C>T (p.Phe341=) single nucleotide variant not specified [RCV000501947] Chr16:89935474 [GRCh38]
Chr16:90001882 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.856G>A (p.Val286Met) single nucleotide variant not specified [RCV000500275] Chr16:89935307 [GRCh38]
Chr16:90001715 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.536T>C (p.Val179Ala) single nucleotide variant not specified [RCV000500305] Chr16:89934987 [GRCh38]
Chr16:90001395 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1209G>C (p.Met403Ile) single nucleotide variant not provided [RCV000493628] Chr16:89935660 [GRCh38]
Chr16:90002068 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.1139G>A (p.Arg380His) single nucleotide variant not provided [RCV000493675] Chr16:89935590 [GRCh38]
Chr16:90001998 [GRCh37]
Chr16:16q24.3
pathogenic|uncertain significance
NM_006086.4(TUBB3):c.1165T>G (p.Phe389Val) single nucleotide variant not provided [RCV000493707] Chr16:89935616 [GRCh38]
Chr16:90002024 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser) single nucleotide variant not provided [RCV000493980] Chr16:89934875 [GRCh38]
Chr16:90001283 [GRCh37]
Chr16:16q24.3
likely pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss PARP Inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_006086.4(TUBB3):c.447G>A (p.Thr149=) single nucleotide variant not provided [RCV000913451]|not specified [RCV000612358] Chr16:89934898 [GRCh38]
Chr16:90001306 [GRCh37]
Chr16:16q24.3
benign|likely benign
NM_006086.4(TUBB3):c.278-7T>G single nucleotide variant not specified [RCV000615760] Chr16:89934722 [GRCh38]
Chr16:90001130 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.882C>T (p.Phe294=) single nucleotide variant not specified [RCV000600386] Chr16:89935333 [GRCh38]
Chr16:90001741 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.58-19del deletion not specified [RCV000608131] Chr16:89932552 [GRCh38]
Chr16:89998960 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu) single nucleotide variant Inborn genetic diseases [RCV000623368] Chr16:89934974 [GRCh38]
Chr16:90001382 [GRCh37]
Chr16:16q24.3
pathogenic
NM_006086.4(TUBB3):c.90C>T (p.Ile30=) single nucleotide variant not provided [RCV000882270]|not specified [RCV000608540] Chr16:89932603 [GRCh38]
Chr16:89999011 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV000656083] Chr16:89932649 [GRCh38]
Chr16:89999057 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.1197G>A (p.Thr399=) single nucleotide variant not specified [RCV000609317] Chr16:89935648 [GRCh38]
Chr16:90002056 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.210C>T (p.Pro70=) single nucleotide variant not provided [RCV000996420]|not specified [RCV000605354] Chr16:89933511 [GRCh38]
Chr16:89999919 [GRCh37]
Chr16:16q24.3
likely benign|uncertain significance
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 copy number gain See cases [RCV000512440] Chr16:85838574..90155062 [GRCh37]
Chr16:16q24.1-24.3
pathogenic
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 copy number gain See cases [RCV000512468] Chr16:83001540..90155062 [GRCh37]
Chr16:16q23.3-24.3
likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss PARP Inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3
drug response
NM_006086.4(TUBB3):c.1307T>C (p.Met436Thr) single nucleotide variant not provided [RCV000658065] Chr16:89935758 [GRCh38]
Chr16:90002166 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89828398-90155062)x3 copy number gain not provided [RCV000683861] Chr16:89828398..90155062 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 copy number gain not provided [RCV000683845] Chr16:79400436..90155062 [GRCh37]
Chr16:16q23.2-24.3
pathogenic
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 copy number gain not provided [RCV000683831] Chr16:72515938..90155062 [GRCh37]
Chr16:16q22.2-24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
NM_006086.4(TUBB3):c.631T>C (p.Cys211Arg) single nucleotide variant Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement [RCV000754774] Chr16:89935082 [GRCh38]
Chr16:90001490 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89970520-90027489)x1 copy number loss not provided [RCV000751840] Chr16:89970520..90027489 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89979494-90015976)x3 copy number gain not provided [RCV000751843] Chr16:89979494..90015976 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.1336G>A (p.Ala446Thr) single nucleotide variant not provided [RCV000903349] Chr16:89935787 [GRCh38]
Chr16:90002195 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1257G>T (p.Val419=) single nucleotide variant not provided [RCV000904419] Chr16:89935708 [GRCh38]
Chr16:90002116 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.972G>A (p.Lys324=) single nucleotide variant not provided [RCV000898909] Chr16:89935423 [GRCh38]
Chr16:90001831 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.993G>C (p.Leu331=) single nucleotide variant not provided [RCV000926097] Chr16:89935444 [GRCh38]
Chr16:90001852 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1158G>A (p.Thr386=) single nucleotide variant not provided [RCV000916792] Chr16:89935609 [GRCh38]
Chr16:90002017 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1233C>T (p.Ala411=) single nucleotide variant not provided [RCV000979156] Chr16:89935684 [GRCh38]
Chr16:90002092 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.903C>T (p.Ala301=) single nucleotide variant not provided [RCV000908593] Chr16:89935354 [GRCh38]
Chr16:90001762 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.99C>T (p.Ser33=) single nucleotide variant not provided [RCV000909519] Chr16:89932612 [GRCh38]
Chr16:89999020 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.1260C>T (p.Ser420=) single nucleotide variant not provided [RCV000917144] Chr16:89935711 [GRCh38]
Chr16:90002119 [GRCh37]
Chr16:16q24.3
likely benign
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) copy number gain not provided [RCV000767619] Chr16:82761333..90055381 [GRCh37]
Chr16:16q23.3-24.3
pathogenic
NM_006086.4(TUBB3):c.-30G>T single nucleotide variant not provided [RCV000827499] Chr16:89923372 [GRCh38]
Chr16:89989780 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.278-212T>C single nucleotide variant not provided [RCV000829404] Chr16:89934517 [GRCh38]
Chr16:90000925 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.58-185G>A single nucleotide variant not provided [RCV000829401] Chr16:89932386 [GRCh38]
Chr16:89998794 [GRCh37]
Chr16:16q24.3
benign
GRCh37/hg19 16q24.3(chr16:89991078-90155062)x3 copy number gain not provided [RCV000847889] Chr16:89991078..90155062 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.277+58C>T single nucleotide variant not provided [RCV000833280] Chr16:89933636 [GRCh38]
Chr16:90000044 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.1312G>C (p.Glu438Gln) single nucleotide variant not provided [RCV000798971] Chr16:89935763 [GRCh38]
Chr16:90002171 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.228C>T (p.Val76=) single nucleotide variant not provided [RCV000919258] Chr16:89933529 [GRCh38]
Chr16:89999937 [GRCh37]
Chr16:16q24.3
benign
NM_006086.4(TUBB3):c.1057G>A (p.Val353Met) single nucleotide variant not provided [RCV000996421] Chr16:89935508 [GRCh38]
Chr16:90001916 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1056C>T (p.Ala352=) single nucleotide variant not provided [RCV000925370] Chr16:89935507 [GRCh38]
Chr16:90001915 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.381C>T (p.Cys127=) single nucleotide variant not provided [RCV000931203] Chr16:89934832 [GRCh38]
Chr16:90001240 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.657G>A (p.Thr219=) single nucleotide variant not provided [RCV000916700] Chr16:89935108 [GRCh38]
Chr16:90001516 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.783G>C (p.Pro261=) single nucleotide variant not provided [RCV000929348] Chr16:89935234 [GRCh38]
Chr16:90001642 [GRCh37]
Chr16:16q24.3
likely benign
NM_006086.4(TUBB3):c.221A>G (p.Asp74Gly) single nucleotide variant not provided [RCV001092319] Chr16:89933522 [GRCh38]
Chr16:89999930 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV001198782] Chr16:89935314 [GRCh38]
Chr16:90001722 [GRCh37]
Chr16:16q24.3
likely pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3
not provided
NM_006086.4(TUBB3):c.577G>A (p.Val193Met) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV001252385] Chr16:89935028 [GRCh38]
Chr16:90001436 [GRCh37]
Chr16:16q24.3
pathogenic
GRCh37/hg19 16q24.3(chr16:89499489-90125146)x3 copy number gain not provided [RCV001259286] Chr16:89499489..90125146 [GRCh37]
Chr16:16q24.3
uncertain significance
GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3 copy number gain not provided [RCV001258663] Chr16:88222732..90155062 [GRCh37]
Chr16:16q24.2-24.3
uncertain significance
GRCh37/hg19 16q24.3(chr16:89156662-90023446)x3 copy number gain not provided [RCV001258667] Chr16:89156662..90023446 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.730G>T (p.Gly244Cys) single nucleotide variant TUBB3-related tubulinopathy [RCV001270741] Chr16:89935181 [GRCh38]
Chr16:90001589 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.446C>T (p.Thr149Met) single nucleotide variant Cortical dysplasia, complex, with other brain malformations 1 [RCV001332737] Chr16:89934897 [GRCh38]
Chr16:90001305 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1318G>C (p.Asp440His) single nucleotide variant not provided [RCV001342419] Chr16:89935769 [GRCh38]
Chr16:90002177 [GRCh37]
Chr16:16q24.3
uncertain significance
NM_006086.4(TUBB3):c.1163T>C (p.Met388Thr) single nucleotide variant Lissencephaly [RCV001291309] Chr16:89935614 [GRCh38]
Chr16:90002022 [GRCh37]
Chr16:16q24.3
likely pathogenic
NM_006086.4(TUBB3):c.836A>G (p.Gln279Arg) single nucleotide variant not provided [RCV001296111] Chr16:89935287 [GRCh38]
Chr16:90001695 [GRCh37]
Chr16:16q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20772 AgrOrtholog
COSMIC TUBB3 COSMIC
Ensembl Genes ENSG00000258947 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000320295 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000450538 UniProtKB/TrEMBL
  ENSP00000450765 UniProtKB/TrEMBL
  ENSP00000450822 UniProtKB/TrEMBL
  ENSP00000451276 UniProtKB/TrEMBL
  ENSP00000451378 UniProtKB/TrEMBL
  ENSP00000451465 UniProtKB/TrEMBL
  ENSP00000451617 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000451985 UniProtKB/TrEMBL
  ENSP00000452001 UniProtKB/TrEMBL
  ENSP00000452166 UniProtKB/TrEMBL
  ENSP00000452554 UniProtKB/TrEMBL
  ENSP00000485859 UniProtKB/TrEMBL
Ensembl Transcript ENST00000315491 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000553656 UniProtKB/TrEMBL
  ENST00000553967 UniProtKB/TrEMBL
  ENST00000554336 UniProtKB/TrEMBL
  ENST00000554444 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000555576 UniProtKB/TrEMBL
  ENST00000555609 UniProtKB/TrEMBL
  ENST00000555810 UniProtKB/TrEMBL
  ENST00000556536 UniProtKB/TrEMBL
  ENST00000556565 UniProtKB/TrEMBL
  ENST00000557262 UniProtKB/TrEMBL
  ENST00000557490 UniProtKB/TrEMBL
  ENST00000625617 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.600 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.1330.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.1440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000258947 GTEx
HGNC ID HGNC:20772 ENTREZGENE
Human Proteome Map TUBB3 Human Proteome Map
InterPro Beta-tubulin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta_tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tub_FtsZ_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_2-layer-sand-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin/FtsZ_GTPase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_FtsZ_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10381 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10381 ENTREZGENE
OMIM 600638 OMIM
  602661 OMIM
  614039 OMIM
PANTHER PTHR11588 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134953867 PharmGKB
PRINTS BETATUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE TUBULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TUBULIN_B_AUTOREG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tubulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tubulin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt G3V2A3_HUMAN UniProtKB/TrEMBL
  G3V2N6_HUMAN UniProtKB/TrEMBL
  G3V2R8_HUMAN UniProtKB/TrEMBL
  G3V3J6_HUMAN UniProtKB/TrEMBL
  G3V3R4_HUMAN UniProtKB/TrEMBL
  G3V3W7_HUMAN UniProtKB/TrEMBL
  G3V4U2_HUMAN UniProtKB/TrEMBL
  G3V542_HUMAN UniProtKB/TrEMBL
  G3V5W4_HUMAN UniProtKB/TrEMBL
  Q13509 ENTREZGENE
  Q3ZCR3_HUMAN UniProtKB/TrEMBL
  Q53G92 ENTREZGENE, UniProtKB/TrEMBL
  Q9BV28_HUMAN UniProtKB/TrEMBL
  TBB3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K854 UniProtKB/Swiss-Prot
  Q9BTZ0 UniProtKB/Swiss-Prot
  Q9BW10 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 TUBB3  tubulin beta 3 class III  FEOM3  fibrosis of extraocular muscles, congenital, 3  Data Merged 737654 PROVISIONAL
2015-12-22 TUBB3  tubulin beta 3 class III    tubulin, beta 3 class III  Symbol and/or name change 5135510 APPROVED
2011-10-18 TUBB3  tubulin, beta 3 class III  TUBB3  tubulin, beta 3  Symbol and/or name change 5135510 APPROVED
2011-07-27 TUBB3  tubulin, beta 3  TUBB3  tubulin, beta 3  Symbol and/or name change 5135510 APPROVED