DACT1 (dishevelled binding antagonist of beta catenin 1) - Rat Genome Database

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Gene: DACT1 (dishevelled binding antagonist of beta catenin 1) Homo sapiens
Analyze
Symbol: DACT1
Name: dishevelled binding antagonist of beta catenin 1
RGD ID: 1348421
HGNC Page HGNC:17748
Description: Enables several functions, including beta-catenin binding activity; histone deacetylase binding activity; and protein kinase A binding activity. Involved in several processes, including negative regulation of JNK cascade; negative regulation of beta-catenin-TCF complex assembly; and regulation of canonical Wnt signaling pathway. Acts upstream of or within positive regulation of protein catabolic process. Located in beta-catenin destruction complex; cytoplasm; and nucleoplasm. Implicated in Townes-Brocks syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DAPPER; dapper antagonist of catenin 1; dapper homolog 1; dapper homolog 1, antagonist of beta-catenin; dapper homolog 1, antagonist of beta-catenin (xenopus); dapper, antagonist of beta-catenin, homolog 1; DAPPER1; dishevelled-binding antagonist of beta-catenin 1; DPR1; FRODO; HDPR1; hepatocellular carcinoma novel gene 3 protein; heptacellular carcinoma novel gene 3; TBS2; THYEX3
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
GRCh381458,634,061 - 58,648,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1458,633,967 - 58,648,321 (+)EnsemblGRCh38hg38GRCh38
GRCh371459,100,779 - 59,115,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361458,174,510 - 58,184,792 (+)NCBINCBI36Build 36hg18NCBI36
Build 341458,174,611 - 58,184,789NCBI
Celera1439,154,745 - 39,165,027 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBIHuRef
CHM1_11459,039,260 - 59,053,513 (+)NCBICHM1_1
T2T-CHM13v2.01452,841,138 - 52,855,396 (+)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
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
calciol  (ISO)
cantharidin  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
cisplatin  (EXP)
clothianidin  (EXP)
cobalt dichloride  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diquat  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
ethanol  (EXP)
fenvalerate  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
hydrogen cyanide  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PCB138  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
potassium dichromate  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vitamin E  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cardiac septum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal pulmonary valve morphology  (IAGP)
Abnormal rib morphology  (IAGP)
Abnormal tragus morphology  (IAGP)
Abnormal vagina morphology  (IAGP)
Abnormal vertebral morphology  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the uterus  (IAGP)
Abnormality of vision  (IAGP)
Absent toe  (IAGP)
Agenesis of corpus callosum  (IAGP)
Anal atresia  (IAGP)
Anencephaly  (IAGP)
Anteriorly placed anus  (IAGP)
Aplasia/Hypoplasia of the 3rd toe  (IAGP)
Atrial septal defect  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid scrotum  (IAGP)
Bifid sternum  (IAGP)
Bifid uterus  (IAGP)
Blepharophimosis  (IAGP)
Bowel incontinence  (IAGP)
Broad hallux phalanx  (IAGP)
Broad thumb  (IAGP)
Cataract  (IAGP)
Cervical spina bifida  (IAGP)
Chiari malformation  (IAGP)
Chorioretinal coloboma  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Crossed fused renal ectopia  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Delayed puberty  (IAGP)
Ectopic kidney  (IAGP)
Facial asymmetry  (IAGP)
Failure to thrive  (IAGP)
Hearing impairment  (IAGP)
Hypoplasia of penis  (IAGP)
Hypospadias  (IAGP)
Hypothyroidism  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Limbal dermoid  (IAGP)
Lower limb asymmetry  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Multiple renal cysts  (IAGP)
Myelomeningocele  (IAGP)
Omphalocele  (IAGP)
Overfolded helix  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Preauricular skin tag  (IAGP)
Preaxial hand polydactyly  (IAGP)
Rectoperineal fistula  (IAGP)
Rectovaginal fistula  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Rieger anomaly  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Sirenomelia  (IAGP)
Spina bifida occulta  (IAGP)
Spinal dysraphism  (IAGP)
Strabismus  (IAGP)
Subcutaneous nodule  (IAGP)
Tetralogy of Fallot  (IAGP)
Toe clinodactyly  (IAGP)
Toe syndactyly  (IAGP)
Triphalangeal thumb  (IAGP)
Ulnar deviation of finger  (IAGP)
Urethral valve  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:11970895   PMID:12508121   PMID:12632086   PMID:15146197   PMID:15580286   PMID:16446366   PMID:17197390   PMID:18029348   PMID:18936100   PMID:19073771   PMID:19733838  
PMID:20232357   PMID:20844743   PMID:21176356   PMID:21262972   PMID:21282530   PMID:21382349   PMID:21525190   PMID:21718540   PMID:21873635   PMID:21900206   PMID:22470507   PMID:22610794  
PMID:23073659   PMID:23414517   PMID:23696638   PMID:24980960   PMID:25424899   PMID:25524937   PMID:25558878   PMID:25825496   PMID:26091241   PMID:26099026   PMID:27714812   PMID:27833078  
PMID:28054444   PMID:28077137   PMID:28237722   PMID:28839145   PMID:29037126   PMID:30547803   PMID:31978940   PMID:32645484   PMID:32807901   PMID:33843483   PMID:33961781   PMID:34350095  
PMID:35121825   PMID:35510412   PMID:35748872   PMID:36066768   PMID:37610179  


Genomics

Comparative Map Data
DACT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381458,634,061 - 58,648,321 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1458,633,967 - 58,648,321 (+)EnsemblGRCh38hg38GRCh38
GRCh371459,100,779 - 59,115,039 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361458,174,510 - 58,184,792 (+)NCBINCBI36Build 36hg18NCBI36
Build 341458,174,611 - 58,184,789NCBI
Celera1439,154,745 - 39,165,027 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBIHuRef
CHM1_11459,039,260 - 59,053,513 (+)NCBICHM1_1
T2T-CHM13v2.01452,841,138 - 52,855,396 (+)NCBIT2T-CHM13v2.0
Dact1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391271,356,658 - 71,366,881 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1271,356,658 - 71,366,881 (+)EnsemblGRCm39 Ensembl
GRCm381271,309,884 - 71,320,107 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1271,309,884 - 71,320,107 (+)EnsemblGRCm38mm10GRCm38
MGSCv371272,410,871 - 72,421,094 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361272,228,589 - 72,237,499 (+)NCBIMGSCv36mm8
Celera1272,410,534 - 72,420,756 (+)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1229.39NCBI
Dact1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8695,526,645 - 95,538,625 (+)NCBIGRCr8
mRatBN7.2689,790,676 - 89,818,254 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl689,790,644 - 89,817,906 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx690,174,745 - 90,185,345 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0690,474,205 - 90,484,805 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0689,913,716 - 89,924,316 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0693,740,440 - 93,751,003 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl693,740,586 - 93,749,809 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06103,201,826 - 103,212,384 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4693,402,304 - 93,411,668 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera688,272,055 - 88,282,541 (+)NCBICelera
Cytogenetic Map6q24NCBI
Dact1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546612,367,775 - 12,373,036 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546612,367,760 - 12,374,141 (+)NCBIChiLan1.0ChiLan1.0
DACT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21559,761,876 - 59,772,346 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11458,978,423 - 58,988,860 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01439,231,910 - 39,242,353 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11457,498,901 - 57,510,019 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1457,499,906 - 57,510,019 (+)Ensemblpanpan1.1panPan2
DACT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1833,950,016 - 33,959,671 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl833,949,926 - 33,958,449 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha833,710,858 - 33,719,128 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0834,191,432 - 34,199,711 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl834,191,432 - 34,199,675 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1833,803,264 - 33,811,542 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0833,871,726 - 33,879,997 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0834,246,058 - 34,254,343 (+)NCBIUU_Cfam_GSD_1.0
Dact1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864071,165,976 - 71,174,693 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364953,017,150 - 3,025,684 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364953,017,029 - 3,026,759 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DACT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1187,719,290 - 187,729,422 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11187,719,391 - 187,729,568 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
DACT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12435,821,518 - 35,832,486 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2435,821,990 - 35,832,712 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605324,088,036 - 24,098,815 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dact1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248843,739,334 - 3,948,621 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248843,733,648 - 3,750,207 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DACT1
116 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3
pathogenic
GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1 copy number loss See cases [RCV000051522] Chr14:58146022..61273619 [GRCh38]
Chr14:58612740..61740337 [GRCh37]
Chr14:57682493..60810090 [NCBI36]
Chr14:14q23.1
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_001079520.2(DACT1):c.1899G>C (p.Lys633Asn) single nucleotide variant Rieger anomaly [RCV000207386] Chr14:58646633 [GRCh38]
Chr14:59113351 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1145G>A (p.Trp382Ter) single nucleotide variant Townes-Brocks syndrome 2 [RCV000487483] Chr14:58645879 [GRCh38]
Chr14:59112597 [GRCh37]
Chr14:14q23.1
pathogenic
NM_001079520.2(DACT1):c.868_869del (p.Trp290fs) microsatellite DACT1-related neural tube defects [RCV000656341] Chr14:58645600..58645601 [GRCh38]
Chr14:59112318..59112319 [GRCh37]
Chr14:14q23.1
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_001079520.2(DACT1):c.1678G>A (p.Gly560Ser) single nucleotide variant not specified [RCV004330343] Chr14:58646412 [GRCh38]
Chr14:59113130 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2110A>T (p.Thr704Ser) single nucleotide variant not specified [RCV004318242] Chr14:58646844 [GRCh38]
Chr14:59113562 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1474G>A (p.Ala492Thr) single nucleotide variant not specified [RCV004332067] Chr14:58646208 [GRCh38]
Chr14:59112926 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.851C>T (p.Pro284Leu) single nucleotide variant not specified [RCV004289988] Chr14:58645585 [GRCh38]
Chr14:59112303 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q23.1(chr14:59072873-59134382)x3 copy number gain not provided [RCV000738505] Chr14:59072873..59134382 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1978G>A (p.Gly660Ser) single nucleotide variant DACT1-related disorder [RCV003975855]|not provided [RCV001665848] Chr14:58646712 [GRCh38]
Chr14:59113430 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) single nucleotide variant Townes-Brocks syndrome 2 [RCV002503014]|not provided [RCV000963679] Chr14:58645664 [GRCh38]
Chr14:59112382 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.478+9T>G single nucleotide variant DACT1-related disorder [RCV003930588]|not provided [RCV000883139] Chr14:58640877 [GRCh38]
Chr14:59107595 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_001079520.2(DACT1):c.2026T>A (p.Tyr676Asn) single nucleotide variant not provided [RCV000899290] Chr14:58646760 [GRCh38]
Chr14:59113478 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) single nucleotide variant Townes-Brocks syndrome 2 [RCV002495438]|not provided [RCV000898548] Chr14:58645503 [GRCh38]
Chr14:59112221 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_001079520.2(DACT1):c.1193T>C (p.Leu398Pro) single nucleotide variant not provided [RCV000972879] Chr14:58645927 [GRCh38]
Chr14:59112645 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1770C>A (p.Ala590=) single nucleotide variant not provided [RCV000914652] Chr14:58646504 [GRCh38]
Chr14:59113222 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.846C>A (p.Ser282=) single nucleotide variant not provided [RCV000904195] Chr14:58645580 [GRCh38]
Chr14:59112298 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.156G>A (p.Leu52=) single nucleotide variant not provided [RCV000884578] Chr14:58638358 [GRCh38]
Chr14:59105076 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1224C>G (p.Ser408=) single nucleotide variant not provided [RCV000981190] Chr14:58645958 [GRCh38]
Chr14:59112676 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1662C>G (p.Leu554=) single nucleotide variant not provided [RCV000927225] Chr14:58646396 [GRCh38]
Chr14:59113114 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.2121C>T (p.Asp707=) single nucleotide variant DACT1-related disorder [RCV003955832]|not provided [RCV000881393] Chr14:58646855 [GRCh38]
Chr14:59113573 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_001079520.2(DACT1):c.582C>T (p.Cys194=) single nucleotide variant not provided [RCV000881260] Chr14:58641695 [GRCh38]
Chr14:59108413 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.624C>G (p.Pro208=) single nucleotide variant not provided [RCV000921309] Chr14:58641737 [GRCh38]
Chr14:59108455 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1861C>T (p.His621Tyr) single nucleotide variant not provided [RCV000897399] Chr14:58646595 [GRCh38]
Chr14:59113313 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.306G>A (p.Lys102=) single nucleotide variant not provided [RCV000899200] Chr14:58638508 [GRCh38]
Chr14:59105226 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.237G>C (p.Ala79=) single nucleotide variant not provided [RCV000893812] Chr14:58638439 [GRCh38]
Chr14:59105157 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1224C>T (p.Ser408=) single nucleotide variant DACT1-related disorder [RCV003903016]|not provided [RCV000922813] Chr14:58645958 [GRCh38]
Chr14:59112676 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_001079520.2(DACT1):c.2148C>T (p.Cys716=) single nucleotide variant not provided [RCV000896682] Chr14:58646882 [GRCh38]
Chr14:59113600 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.635-121T>C single nucleotide variant not provided [RCV000978380] Chr14:58645248 [GRCh38]
Chr14:59111966 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1948T>C (p.Tyr650His) single nucleotide variant not provided [RCV000919962]|not specified [RCV004029449] Chr14:58646682 [GRCh38]
Chr14:59113400 [GRCh37]
Chr14:14q23.1
likely benign|uncertain significance
NM_001079520.2(DACT1):c.1896T>G (p.Pro632=) single nucleotide variant not provided [RCV000960597] Chr14:58646630 [GRCh38]
Chr14:59113348 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1820G>A (p.Gly607Asp) single nucleotide variant not provided [RCV001200592]|not specified [RCV004033488] Chr14:58646554 [GRCh38]
Chr14:59113272 [GRCh37]
Chr14:14q23.1
likely benign|uncertain significance
NM_001079520.2(DACT1):c.760C>G (p.Pro254Ala) single nucleotide variant not specified [RCV004282109] Chr14:58645494 [GRCh38]
Chr14:59112212 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.268C>T (p.Leu90=) single nucleotide variant Townes-Brocks syndrome 2 [RCV001661352]|not provided [RCV004715533] Chr14:58638470 [GRCh38]
Chr14:59105188 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val) single nucleotide variant Townes-Brocks syndrome 2 [RCV001661353]|not provided [RCV004716786] Chr14:58646014 [GRCh38]
Chr14:59112732 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1924T>C (p.Trp642Arg) single nucleotide variant not provided [RCV000909891] Chr14:58646658 [GRCh38]
Chr14:59113376 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1500C>G (p.Ala500=) single nucleotide variant not provided [RCV000960596] Chr14:58646234 [GRCh38]
Chr14:59112952 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.989C>A (p.Thr330Lys) single nucleotide variant Townes-Brocks syndrome 2 [RCV003152612]|not provided [RCV000914985]|not specified [RCV004029380] Chr14:58645723 [GRCh38]
Chr14:59112441 [GRCh37]
Chr14:14q23.1
pathogenic|likely benign|uncertain significance
NM_001079520.2(DACT1):c.1216G>A (p.Ala406Thr) single nucleotide variant not provided [RCV000908138] Chr14:58645950 [GRCh38]
Chr14:59112668 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.2244C>T (p.Ser748=) single nucleotide variant DACT1-related disorder [RCV003950456]|not provided [RCV000895691] Chr14:58646978 [GRCh38]
Chr14:59113696 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1554C>T (p.Val518=) single nucleotide variant not provided [RCV000913773] Chr14:58646288 [GRCh38]
Chr14:59113006 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.147G>A (p.Glu49=) single nucleotide variant not provided [RCV000911742] Chr14:58638349 [GRCh38]
Chr14:59105067 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.260G>T (p.Gly87Val) single nucleotide variant DACT1-related disorder [RCV003910553]|not provided [RCV000889726] Chr14:58638462 [GRCh38]
Chr14:59105180 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_001079520.2(DACT1):c.1497T>C (p.Pro499=) single nucleotide variant not provided [RCV000911805] Chr14:58646231 [GRCh38]
Chr14:59112949 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.251C>T (p.Pro84Leu) single nucleotide variant not provided [RCV000890256] Chr14:58638453 [GRCh38]
Chr14:59105171 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1404C>G (p.Pro468=) single nucleotide variant DACT1-related disorder [RCV003950760]|not provided [RCV000912244] Chr14:58646138 [GRCh38]
Chr14:59112856 [GRCh37]
Chr14:14q23.1
benign|likely benign
GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1 copy number loss not provided [RCV001006637] Chr14:56605398..59404256 [GRCh37]
Chr14:14q22.3-23.1
pathogenic
GRCh37/hg19 14q23.1(chr14:59083003-59299372)x1 copy number loss not provided [RCV001006640] Chr14:59083003..59299372 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1225G>A (p.Asp409Asn) single nucleotide variant not provided [RCV001720432] Chr14:58645959 [GRCh38]
Chr14:59112677 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1362_1363del (p.Ser454fs) deletion not provided [RCV001543506] Chr14:58646096..58646097 [GRCh38]
Chr14:59112814..59112815 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_001079520.2(DACT1):c.572C>T (p.Thr191Ile) single nucleotide variant not specified [RCV004608715] Chr14:58641685 [GRCh38]
Chr14:59108403 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2078G>A (p.Cys693Tyr) single nucleotide variant not specified [RCV004608717] Chr14:58646812 [GRCh38]
Chr14:59113530 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1708G>A (p.Ala570Thr) single nucleotide variant not specified [RCV004608711] Chr14:58646442 [GRCh38]
Chr14:59113160 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.925G>A (p.Val309Ile) single nucleotide variant not specified [RCV004608713] Chr14:58645659 [GRCh38]
Chr14:59112377 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1736A>C (p.Asp579Ala) single nucleotide variant not specified [RCV004608719] Chr14:58646470 [GRCh38]
Chr14:59113188 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2207C>T (p.Thr736Ile) single nucleotide variant Townes-Brocks syndrome 2 [RCV001262782] Chr14:58646941 [GRCh38]
Chr14:59113659 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.288C>T (p.Arg96=) single nucleotide variant not provided [RCV004598740] Chr14:58638490 [GRCh38]
Chr14:59105208 [GRCh37]
Chr14:14q23.1
likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3
likely pathogenic
NM_001079520.2(DACT1):c.1660C>T (p.Leu554Phe) single nucleotide variant Townes-Brocks syndrome 2 [RCV003152573] Chr14:58646394 [GRCh38]
Chr14:59113112 [GRCh37]
Chr14:14q23.1
pathogenic
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
NM_001079520.2(DACT1):c.2122G>A (p.Glu708Lys) single nucleotide variant Townes-Brocks syndrome 2 [RCV002289144] Chr14:58646856 [GRCh38]
Chr14:59113574 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1919G>A (p.Arg640Gln) single nucleotide variant not specified [RCV004295422] Chr14:58646653 [GRCh38]
Chr14:59113371 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.635-27A>G single nucleotide variant not specified [RCV004333714] Chr14:58645342 [GRCh38]
Chr14:59112060 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2357T>G (p.Leu786Arg) single nucleotide variant Townes-Brocks syndrome 2 [RCV003152574] Chr14:58647091 [GRCh38]
Chr14:59113809 [GRCh37]
Chr14:14q23.1
pathogenic
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1 copy number loss not provided [RCV002472446] Chr14:57804997..63590203 [GRCh37]
Chr14:14q22.3-23.2
likely pathogenic
GRCh37/hg19 14q23.1(chr14:58833909-59109480)x3 copy number gain not provided [RCV002474852] Chr14:58833909..59109480 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2140A>G (p.Thr714Ala) single nucleotide variant not specified [RCV004110994] Chr14:58646874 [GRCh38]
Chr14:59113592 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1610G>C (p.Arg537Thr) single nucleotide variant not specified [RCV004141551] Chr14:58646344 [GRCh38]
Chr14:59113062 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2041G>A (p.Ala681Thr) single nucleotide variant not specified [RCV004235968] Chr14:58646775 [GRCh38]
Chr14:59113493 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1952A>G (p.Glu651Gly) single nucleotide variant not specified [RCV004126449] Chr14:58646686 [GRCh38]
Chr14:59113404 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1015G>C (p.Val339Leu) single nucleotide variant not specified [RCV004204207] Chr14:58645749 [GRCh38]
Chr14:59112467 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.631G>T (p.Ala211Ser) single nucleotide variant not specified [RCV004115387] Chr14:58641744 [GRCh38]
Chr14:59108462 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1012A>G (p.Ser338Gly) single nucleotide variant not specified [RCV004147792] Chr14:58645746 [GRCh38]
Chr14:59112464 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.124C>A (p.Gln42Lys) single nucleotide variant not specified [RCV004242258] Chr14:58638326 [GRCh38]
Chr14:59105044 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.829G>T (p.Val277Phe) single nucleotide variant not specified [RCV004194633] Chr14:58645563 [GRCh38]
Chr14:59112281 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1862A>G (p.His621Arg) single nucleotide variant not specified [RCV004100925] Chr14:58646596 [GRCh38]
Chr14:59113314 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.703C>T (p.Pro235Ser) single nucleotide variant not specified [RCV004152405] Chr14:58645437 [GRCh38]
Chr14:59112155 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2143A>G (p.Asn715Asp) single nucleotide variant not specified [RCV004102753] Chr14:58646877 [GRCh38]
Chr14:59113595 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1282C>T (p.Arg428Trp) single nucleotide variant not specified [RCV004124036] Chr14:58646016 [GRCh38]
Chr14:59112734 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.635-6T>C single nucleotide variant not specified [RCV004225727] Chr14:58645363 [GRCh38]
Chr14:59112081 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1735G>C (p.Asp579His) single nucleotide variant not specified [RCV004186431] Chr14:58646469 [GRCh38]
Chr14:59113187 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.635-45G>A single nucleotide variant not specified [RCV004198073] Chr14:58645324 [GRCh38]
Chr14:59112042 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.635-54C>A single nucleotide variant not specified [RCV004130851] Chr14:58645315 [GRCh38]
Chr14:59112033 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1616T>G (p.Met539Arg) single nucleotide variant not specified [RCV004079371] Chr14:58646350 [GRCh38]
Chr14:59113068 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1683G>T (p.Leu561Phe) single nucleotide variant not specified [RCV004174360] Chr14:58646417 [GRCh38]
Chr14:59113135 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.817G>A (p.Glu273Lys) single nucleotide variant DACT1-related disorder [RCV003928925]|not provided [RCV004598253]|not specified [RCV004206945] Chr14:58645551 [GRCh38]
Chr14:59112269 [GRCh37]
Chr14:14q23.1
benign|likely benign|uncertain significance
NM_001079520.2(DACT1):c.1592G>A (p.Arg531Lys) single nucleotide variant Townes-Brocks syndrome 2 [RCV003152572] Chr14:58646326 [GRCh38]
Chr14:59113044 [GRCh37]
Chr14:14q23.1
pathogenic
NM_001079520.2(DACT1):c.1091C>T (p.Pro364Leu) single nucleotide variant not specified [RCV004093800] Chr14:58645825 [GRCh38]
Chr14:59112543 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1194G>T (p.Leu398=) single nucleotide variant not provided [RCV003393449] Chr14:58645928 [GRCh38]
Chr14:59112646 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.2017C>T (p.Pro673Ser) single nucleotide variant not specified [RCV004273107] Chr14:58646751 [GRCh38]
Chr14:59113469 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1779G>T (p.Lys593Asn) single nucleotide variant Townes-Brocks syndrome 2 [RCV003152575] Chr14:58646513 [GRCh38]
Chr14:59113231 [GRCh37]
Chr14:14q23.1
pathogenic
NM_001079520.2(DACT1):c.1766A>C (p.Lys589Thr) single nucleotide variant not specified [RCV004276192] Chr14:58646500 [GRCh38]
Chr14:59113218 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1513A>T (p.Ser505Cys) single nucleotide variant not specified [RCV004253654] Chr14:58646247 [GRCh38]
Chr14:59112965 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.809G>A (p.Gly270Asp) single nucleotide variant not specified [RCV004253874] Chr14:58645543 [GRCh38]
Chr14:59112261 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2024C>T (p.Pro675Leu) single nucleotide variant not specified [RCV004273362] Chr14:58646758 [GRCh38]
Chr14:59113476 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.253C>G (p.Arg85Gly) single nucleotide variant not specified [RCV004260261] Chr14:58638455 [GRCh38]
Chr14:59105173 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1160A>C (p.Lys387Thr) single nucleotide variant not specified [RCV004271135] Chr14:58645894 [GRCh38]
Chr14:59112612 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2366G>A (p.Arg789Gln) single nucleotide variant not specified [RCV004260896] Chr14:58647100 [GRCh38]
Chr14:59113818 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2294A>C (p.His765Pro) single nucleotide variant not specified [RCV004249451] Chr14:58647028 [GRCh38]
Chr14:59113746 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1819G>T (p.Gly607Cys) single nucleotide variant not specified [RCV004263761] Chr14:58646553 [GRCh38]
Chr14:59113271 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.79C>T (p.Pro27Ser) single nucleotide variant not specified [RCV004608716] Chr14:58638281 [GRCh38]
Chr14:59104999 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1127T>C (p.Phe376Ser) single nucleotide variant not specified [RCV004608718] Chr14:58645861 [GRCh38]
Chr14:59112579 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1645C>T (p.His549Tyr) single nucleotide variant not specified [RCV004608710] Chr14:58646379 [GRCh38]
Chr14:59113097 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1958C>T (p.Ala653Val) single nucleotide variant not specified [RCV004608712] Chr14:58646692 [GRCh38]
Chr14:59113410 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1 copy number loss not provided [RCV003326901] Chr14:57675327..59806898 [GRCh37]
Chr14:14q22.3-23.1
uncertain significance
NM_001079520.2(DACT1):c.1108T>C (p.Ser370Pro) single nucleotide variant not specified [RCV004349616] Chr14:58645842 [GRCh38]
Chr14:59112560 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2084C>A (p.Ser695Tyr) single nucleotide variant not specified [RCV004346660] Chr14:58646818 [GRCh38]
Chr14:59113536 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.752C>T (p.Thr251Met) single nucleotide variant not specified [RCV004334439] Chr14:58645486 [GRCh38]
Chr14:59112204 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1253C>T (p.Thr418Met) single nucleotide variant not specified [RCV004355287] Chr14:58645987 [GRCh38]
Chr14:59112705 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1811G>C (p.Gly604Ala) single nucleotide variant not specified [RCV004347563] Chr14:58646545 [GRCh38]
Chr14:59113263 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1742T>G (p.Leu581Trp) single nucleotide variant not specified [RCV004341043] Chr14:58646476 [GRCh38]
Chr14:59113194 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1155A>C (p.Glu385Asp) single nucleotide variant not specified [RCV004360248] Chr14:58645889 [GRCh38]
Chr14:59112607 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1840C>T (p.His614Tyr) single nucleotide variant not specified [RCV004362077] Chr14:58646574 [GRCh38]
Chr14:59113292 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1 copy number loss not provided [RCV003483204] Chr14:55667390..64447598 [GRCh37]
Chr14:14q22.3-23.2
pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1
pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1
likely pathogenic
NM_001079520.2(DACT1):c.25G>C (p.Ala9Pro) single nucleotide variant DACT1-related disorder [RCV003404433] Chr14:58638227 [GRCh38]
Chr14:59104945 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1277A>G (p.His426Arg) single nucleotide variant DACT1-related disorder [RCV003404663] Chr14:58646011 [GRCh38]
Chr14:59112729 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.883C>G (p.Pro295Ala) single nucleotide variant DACT1-related disorder [RCV003414424] Chr14:58645617 [GRCh38]
Chr14:59112335 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2009C>T (p.Ala670Val) single nucleotide variant not provided [RCV003393450] Chr14:58646743 [GRCh38]
Chr14:59113461 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1792G>C (p.Gly598Arg) single nucleotide variant not specified [RCV004370789] Chr14:58646526 [GRCh38]
Chr14:59113244 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2169T>A (p.Ser723Arg) single nucleotide variant not specified [RCV004370793] Chr14:58646903 [GRCh38]
Chr14:59113621 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.758A>G (p.Asn253Ser) single nucleotide variant not specified [RCV004370796] Chr14:58645492 [GRCh38]
Chr14:59112210 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1023C>T (p.Val341=) single nucleotide variant DACT1-related disorder [RCV003981853] Chr14:58645757 [GRCh38]
Chr14:59112475 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.2035C>T (p.Pro679Ser) single nucleotide variant not specified [RCV004370792] Chr14:58646769 [GRCh38]
Chr14:59113487 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.936A>C (p.Lys312Asn) single nucleotide variant not specified [RCV004370782] Chr14:58645670 [GRCh38]
Chr14:59112388 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.184C>T (p.Arg62Cys) single nucleotide variant not specified [RCV004370788] Chr14:58638386 [GRCh38]
Chr14:59105104 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1997G>A (p.Gly666Glu) single nucleotide variant not specified [RCV004370791] Chr14:58646731 [GRCh38]
Chr14:59113449 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.2188G>A (p.Val730Met) single nucleotide variant not specified [RCV004370794] Chr14:58646922 [GRCh38]
Chr14:59113640 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1601G>A (p.Arg534Gln) single nucleotide variant not specified [RCV004370784] Chr14:58646335 [GRCh38]
Chr14:59113053 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1732C>G (p.Pro578Ala) single nucleotide variant not specified [RCV004370787] Chr14:58646466 [GRCh38]
Chr14:59113184 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1771T>G (p.Ser591Ala) single nucleotide variant DACT1-related disorder [RCV003916819] Chr14:58646505 [GRCh38]
Chr14:59113223 [GRCh37]
Chr14:14q23.1
benign
NM_001079520.2(DACT1):c.1017T>C (p.Val339=) single nucleotide variant DACT1-related disorder [RCV003944530] Chr14:58645751 [GRCh38]
Chr14:59112469 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.621C>T (p.Cys207=) single nucleotide variant DACT1-related disorder [RCV003947389] Chr14:58641734 [GRCh38]
Chr14:59108452 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1977C>T (p.Arg659=) single nucleotide variant DACT1-related disorder [RCV003976818] Chr14:58646711 [GRCh38]
Chr14:59113429 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1008C>T (p.Asn336=) single nucleotide variant DACT1-related disorder [RCV003941684] Chr14:58645742 [GRCh38]
Chr14:59112460 [GRCh37]
Chr14:14q23.1
likely benign
NM_001079520.2(DACT1):c.1717A>G (p.Lys573Glu) single nucleotide variant not specified [RCV004370785] Chr14:58646451 [GRCh38]
Chr14:59113169 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.19G>C (p.Gly7Arg) single nucleotide variant not specified [RCV004370790] Chr14:58638221 [GRCh38]
Chr14:59104939 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1703C>T (p.Thr568Met) single nucleotide variant Townes-Brocks syndrome 2 [RCV004577132] Chr14:58646437 [GRCh38]
Chr14:59113155 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_001079520.2(DACT1):c.1637G>A (p.Ser546Asn) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004560223] Chr14:58646371 [GRCh38]
Chr14:59113089 [GRCh37]
Chr14:14q23.1
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1216
Count of miRNA genes:730
Interacting mature miRNAs:820
Transcripts:ENST00000335867, ENST00000395153, ENST00000421793, ENST00000541264, ENST00000555845, ENST00000556859
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
407231820GWAS880796_Hwellbeing measurement, alcohol consumption measurement QTL GWAS880796 (human)2e-08wellbeing measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)145864501858645019Human
407006702GWAS655678_Htestosterone measurement QTL GWAS655678 (human)1e-08testosterone measurementserum testosterone level (CMO:0000568)145864124458641249Human

Markers in Region
RH135896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,114,676 - 59,114,870UniSTSGRCh37
Build 361458,184,429 - 58,184,623RGDNCBI36
Celera1439,164,664 - 39,164,858RGD
HuRef1439,278,884 - 39,279,078UniSTS
DACT1_8041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,114,457 - 59,115,181UniSTSGRCh37
Build 361458,184,210 - 58,184,934RGDNCBI36
Celera1439,164,445 - 39,165,169RGD
HuRef1439,278,665 - 39,279,389UniSTS
RH98203  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
GeneMap99-GB4 RH Map14134.21UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2406 2788 2234 4942 1718 2305 2 618 1861 459 2266 7178 6376 51 3709 839 1714 1578 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_165652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF251079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI803159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY603415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BK000256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU742074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX161433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN304224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR001289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR157190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000335867   ⟹   ENSP00000337439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,638,179 - 58,647,170 (+)Ensembl
Ensembl Acc Id: ENST00000395153   ⟹   ENSP00000378582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,637,962 - 58,648,321 (+)Ensembl
Ensembl Acc Id: ENST00000421793   ⟹   ENSP00000404297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,634,081 - 58,645,856 (+)Ensembl
Ensembl Acc Id: ENST00000541264   ⟹   ENSP00000442850
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,638,837 - 58,647,263 (+)Ensembl
Ensembl Acc Id: ENST00000555845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,633,967 - 58,645,472 (+)Ensembl
Ensembl Acc Id: ENST00000556859   ⟹   ENSP00000451598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,634,068 - 58,647,200 (+)Ensembl
Ensembl Acc Id: ENST00000707126   ⟹   ENSP00000516754
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,638,179 - 58,647,358 (+)Ensembl
RefSeq Acc Id: NM_001079520   ⟹   NP_001072988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,637,962 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
Build 361458,174,510 - 58,184,792 (+)NCBI Archive
Celera1439,154,745 - 39,165,027 (+)RGD
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,043,231 - 59,053,513 (+)NCBI
T2T-CHM13v2.01452,845,039 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016651   ⟹   NP_057735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,637,962 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
Build 361458,174,510 - 58,184,792 (+)NCBI Archive
Celera1439,154,745 - 39,165,027 (+)RGD
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,043,231 - 59,053,513 (+)NCBI
T2T-CHM13v2.01452,845,039 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046093
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,634,061 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,039,260 - 59,053,513 (+)NCBI
T2T-CHM13v2.01452,841,138 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NR_046095
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
GRCh371459,100,786 - 59,115,039 (+)NCBI
HuRef1439,264,994 - 39,279,247 (+)NCBI
CHM1_11459,044,029 - 59,053,513 (+)NCBI
T2T-CHM13v2.01452,845,914 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165650
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,634,061 - 58,648,321 (+)NCBI
T2T-CHM13v2.01452,841,138 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165651
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
T2T-CHM13v2.01452,845,914 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NR_165652
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,638,837 - 58,648,321 (+)NCBI
T2T-CHM13v2.01452,845,914 - 52,855,396 (+)NCBI
Sequence:
RefSeq Acc Id: NP_001072988   ⟸   NM_001079520
- Peptide Label: isoform 2
- UniProtKB: Q9NYF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_057735   ⟸   NM_016651
- Peptide Label: isoform 1
- UniProtKB: A8MYJ2 (UniProtKB/Swiss-Prot),   Q86TY0 (UniProtKB/Swiss-Prot),   Q9NYF0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000442850   ⟸   ENST00000541264
Ensembl Acc Id: ENSP00000451598   ⟸   ENST00000556859
Ensembl Acc Id: ENSP00000337439   ⟸   ENST00000335867
Ensembl Acc Id: ENSP00000378582   ⟸   ENST00000395153
Ensembl Acc Id: ENSP00000404297   ⟸   ENST00000421793
Ensembl Acc Id: ENSP00000516754   ⟸   ENST00000707126

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYF0-F1-model_v2 AlphaFold Q9NYF0 1-836 view protein structure

Promoters
RGD ID:6791473
Promoter ID:HG_KWN:19484
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000395153,   NM_016651
Position:
Human AssemblyChrPosition (strand)Source
Build 361458,173,986 - 58,175,012 (+)MPROMDB
RGD ID:7227749
Promoter ID:EPDNEW_H19620
Type:initiation region
Name:DACT1_1
Description:dishevelled binding antagonist of beta catenin 1
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
GRCh381458,638,160 - 58,638,220EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17748 AgrOrtholog
COSMIC DACT1 COSMIC
Ensembl Genes ENSG00000165617 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000335867 ENTREZGENE
  ENST00000335867.4 UniProtKB/Swiss-Prot
  ENST00000395153 ENTREZGENE
  ENST00000395153.8 UniProtKB/Swiss-Prot
  ENST00000421793.5 UniProtKB/TrEMBL
  ENST00000541264.2 UniProtKB/TrEMBL
  ENST00000556859.5 UniProtKB/TrEMBL
  ENST00000707126.1 UniProtKB/Swiss-Prot
GTEx ENSG00000165617 GTEx
HGNC ID HGNC:17748 ENTREZGENE
Human Proteome Map DACT1 Human Proteome Map
InterPro Dapper UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51339 UniProtKB/Swiss-Prot
NCBI Gene 51339 ENTREZGENE
OMIM 607861 OMIM
PANTHER PTHR15919 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15919:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Dapper UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134957283 PharmGKB
UniProt A8MYJ2 ENTREZGENE
  B7Z673_HUMAN UniProtKB/TrEMBL
  C9JGV7_HUMAN UniProtKB/TrEMBL
  DACT1_HUMAN UniProtKB/Swiss-Prot
  Q86TY0 ENTREZGENE
  Q9NYF0 ENTREZGENE
UniProt Secondary A8MYJ2 UniProtKB/Swiss-Prot
  Q86TY0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-10 DACT1  dishevelled binding antagonist of beta catenin 1  DACT1  dishevelled-binding antagonist of beta-catenin 1  Symbol and/or name change 5135510 APPROVED
2013-05-21 DACT1  dishevelled-binding antagonist of beta-catenin 1  DACT1  dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)  Symbol and/or name change 5135510 APPROVED