SIX1 (SIX homeobox 1) - Rat Genome Database

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Gene: SIX1 (SIX homeobox 1) Homo sapiens
Analyze
Symbol: SIX1
Name: SIX homeobox 1
RGD ID: 731648
HGNC Page HGNC:10887
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II and protein localization to nucleus. Located in nucleolus and nucleoplasm. Implicated in autosomal dominant nonsyndromic deafness 23; branchiootorenal syndrome; and nephroblastoma. Biomarker of breast cancer; hepatocellular carcinoma; nephroblastoma; neurilemmoma; and ovarian carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BOS3; deafness, autosomal dominant 23; DFNA23; homeobox protein SIX1; sine oculis homeobox homolog 1; TIP39
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381460,643,421 - 60,649,477 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1460,643,421 - 60,658,259 (-)EnsemblGRCh38hg38GRCh38
GRCh371461,110,139 - 61,116,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361460,182,506 - 60,185,933 (-)NCBINCBI36hg18NCBI36
Build 341460,182,505 - 60,185,933NCBI
Celera1441,161,682 - 41,166,417 (-)NCBI
Cytogenetic Map14q23.1NCBI
HuRef1441,274,621 - 41,279,356 (-)NCBIHuRef
CHM1_11461,050,553 - 61,055,290 (-)NCBICHM1_1
T2T-CHM13v2.01454,849,879 - 54,855,934 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dichloroethane  (ISO)
15-acetyldeoxynivalenol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
antirheumatic drug  (EXP)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (EXP,ISO)
C60 fullerene  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlordecone  (ISO)
choline  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
dexamethasone  (EXP)
dibenz[a,h]anthracene  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
folic acid  (ISO)
fulvestrant  (ISO)
genistein  (ISO)
gentamycin  (ISO)
indometacin  (EXP)
L-methionine  (ISO)
lithium chloride  (EXP)
mercury dibromide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
rotenone  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triazines  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vanadyl sulfate  (EXP)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure development  (IEA,ISO)
aorta morphogenesis  (IEA,ISO)
apoptotic process  (IEA)
branching involved in ureteric bud morphogenesis  (IEA,ISO,ISS)
cellular response to 3,3',5-triiodo-L-thyronine  (IEA,ISO)
cochlea morphogenesis  (IEA,ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO,ISS)
embryonic skeletal system morphogenesis  (IEA,ISO,ISS)
endothelin receptor signaling pathway  (IEA)
epithelial cell differentiation  (IEA,ISO,ISS)
facial nerve morphogenesis  (IEA,ISO)
fungiform papilla morphogenesis  (IEA)
gene expression  (IEA)
generation of neurons  (IEA,ISS)
inner ear development  (IEA,ISS)
inner ear morphogenesis  (IEA,ISO,ISS)
kidney development  (IEA,ISS)
mesenchymal cell proliferation involved in ureter development  (IEA,ISO)
mesonephric tubule formation  (IEA,ISS)
metanephric mesenchyme development  (IEA,ISS)
middle ear morphogenesis  (IEA,ISO)
myoblast migration  (IEA,ISO,ISS)
myoblast proliferation  (IEA,ISO)
myotome development  (IEA)
negative regulation of apoptotic process  (IEA)
negative regulation of DNA-templated transcription  (IEA)
negative regulation of neuron apoptotic process  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neural crest cell differentiation  (IEA)
neurogenesis  (IEA)
neuron fate specification  (IEA,ISO)
Notch signaling pathway  (IEA)
olfactory placode formation  (IEA)
organ induction  (IEA,ISO,ISS)
otic vesicle development  (IEA,ISO)
outflow tract morphogenesis  (IEA,ISO)
pattern specification process  (IEA,ISO,ISS)
pharyngeal system development  (IEA,ISO)
positive regulation of branching involved in ureteric bud morphogenesis  (IEA,ISO,ISS)
positive regulation of brown fat cell differentiation  (IEA,ISS)
positive regulation of DNA-templated transcription  (IEA,IMP,ISS)
positive regulation of mesenchymal cell proliferation involved in ureter development  (IEA,ISO)
positive regulation of myoblast proliferation  (IEA,ISO)
positive regulation of secondary heart field cardioblast proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,IMP,ISO)
positive regulation of ureteric bud formation  (IEA,ISS)
protein localization to nucleus  (IDA)
regulation of branch elongation involved in ureteric bud branching  (IEA,ISS)
regulation of DNA-templated transcription  (IEA,ISO,ISS)
regulation of epithelial cell proliferation  (IEA)
regulation of gene expression  (IEA,ISO)
regulation of neuron differentiation  (IEA,ISO,ISS)
regulation of protein localization  (IEA,ISO)
regulation of skeletal muscle cell differentiation  (IEA)
regulation of skeletal muscle cell proliferation  (IBA)
regulation of skeletal muscle satellite cell proliferation  (IEA)
regulation of synaptic assembly at neuromuscular junction  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IBA)
sensory perception of sound  (IEA,ISO)
skeletal muscle fiber development  (IBA)
skeletal muscle tissue development  (IEA,ISO,ISS)
skeletal system morphogenesis  (IEA,ISO)
thymus development  (IEA,ISO,ISS)
thyroid gland development  (IEA,ISO,ISS)
tongue development  (IEA)
trigeminal ganglion development  (IEA)
ureter smooth muscle cell differentiation  (IEA,ISO)
ureteric bud development  (IEA,ISO,ISS)

Cellular Component
chromatin  (ISA)
cytoplasm  (IEA)
nucleolus  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IDA,IEA,ISO)
transcription regulator complex  (IBA,IEA,ISS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebral morphology  (IAGP)
Abnormal lacrimal duct morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormal renal collecting system morphology  (IAGP)
Abnormality of the inner ear  (IAGP)
Abnormality of the middle ear ossicles  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bifid uvula  (IAGP)
Branchial cyst  (IAGP)
Branchial fistula  (IAGP)
Cholesteatoma  (IAGP)
Cleft palate  (IAGP)
Commissural lip pit  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital hip dislocation  (IAGP)
Cupped ear  (IAGP)
Dilatated internal auditory canal  (IAGP)
Enlarged cochlear aqueduct  (IAGP)
Euthyroid goiter  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Facial palsy  (IAGP)
Gustatory lacrimation  (IAGP)
Hearing impairment  (IAGP)
Heterogeneous  (IAGP)
High palate  (IAGP)
Hydronephrosis  (IAGP)
Hypoplasia of the cochlea  (IAGP)
Incomplete partition of the cochlea type II  (IAGP)
Incomplete penetrance  (IAGP)
Increased overbite  (IAGP)
Intestinal malrotation  (IAGP)
Lacrimal duct aplasia  (IAGP)
Lacrimal duct stenosis  (IAGP)
Lacrimation abnormality  (IAGP)
Lip pit  (IAGP)
Long face  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Mixed hearing impairment  (IAGP)
Morphological abnormality of the middle ear  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Narrow face  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Preauricular pit  (IAGP)
Preauricular skin tag  (IAGP)
Renal agenesis  (IAGP)
Renal dysplasia  (IAGP)
Renal hypoplasia/aplasia  (IAGP)
Renal insufficiency  (IAGP)
Renal malrotation  (IAGP)
Renal steatosis  (IAGP)
Retrognathia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Stenosis of the external auditory canal  (IAGP)
Ureteropelvic junction obstruction  (IAGP)
Variable expressivity  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Six1 overexpression in ovarian carcinoma causes resistance to TRAIL-mediated apoptosis and is associated with poor survival. Behbakht K, etal., Cancer Res. 2007 Apr 1;67(7):3036-42.
2. Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Bosman EA, etal., Dev Biol. 2009 Apr 15;328(2):285-96. doi: 10.1016/j.ydbio.2009.01.030. Epub 2009 Feb 2.
3. Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development. Chai L, etal., J Biol Chem. 2006 Jul 14;281(28):18918-26. Epub 2006 May 2.
4. Six1 transcription factor is critical for coordination of epithelial, mesenchymal and vascular morphogenesis in the mammalian lung. El-Hashash AH, etal., Dev Biol. 2011 May 15;353(2):242-58. doi: 10.1016/j.ydbio.2011.02.031. Epub 2011 Mar 6.
5. Abrogation of the G2 cell cycle checkpoint associated with overexpression of HSIX1: a possible mechanism of breast carcinogenesis. Ford HL, etal., Proc Natl Acad Sci U S A. 1998 Oct 13;95(21):12608-13.
6. Expression of Eya1 and Six1 is decreased in distal airways of rats with experimental pulmonary hypoplasia. Friedmacher F, etal., J Pediatr Surg. 2014 Feb;49(2):301-4. doi: 10.1016/j.jpedsurg.2013.11.043. Epub 2013 Nov 18.
7. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
8. A Tbx1-Six1/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. Guo C, etal., J Clin Invest. 2011 Apr;121(4):1585-95. doi: 10.1172/JCI44630.
9. SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. Kochhar A, etal., Hum Mutat. 2008 Apr;29(4):565. doi: 10.1002/humu.20714.
10. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Krug P, etal., Hum Mutat. 2011 Feb;32(2):183-90. doi: 10.1002/humu.21402.
11. Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. Laclef C, etal., Mech Dev. 2003 Jun;120(6):669-79.
12. Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis. Miller SJ, etal., Oncogene. 2010 Jan 21;29(3):368-79. doi: 10.1038/onc.2009.360. Epub 2009 Nov 9.
13. Clinicopathological significance of homeoprotein Six1 in hepatocellular carcinoma. Ng KT, etal., Br J Cancer. 2006 Oct 23;95(8):1050-5. Epub 2006 Sep 26.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Structure-function analyses of the human SIX1-EYA2 complex reveal insights into metastasis and BOR syndrome. Patrick AN, etal., Nat Struct Mol Biol. 2013 Apr;20(4):447-53. doi: 10.1038/nsmb.2505. Epub 2013 Feb 24.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19. SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Ruf RG, etal., Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. Epub 2004 May 12.
20. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Sanggaard KM, etal., Eur J Hum Genet. 2007 Nov;15(11):1121-31. Epub 2007 Jul 18.
21. SIX1 protein expression selectively identifies blastemal elements in Wilms tumor. Sehic D, etal., Pediatr Blood Cancer. 2012 Jul 15;59(1):62-8. doi: 10.1002/pbc.24025. Epub 2011 Dec 16.
22. Mutations in the SIX1/2 pathway and the DROSHA/DGCR8 miRNA microprocessor complex underlie high-risk blastemal type Wilms tumors. Wegert J, etal., Cancer Cell. 2015 Feb 9;27(2):298-311. doi: 10.1016/j.ccell.2015.01.002.
Additional References at PubMed
PMID:7720577   PMID:8617500   PMID:10777717   PMID:10801845   PMID:10906137   PMID:11734542   PMID:12057921   PMID:12215533   PMID:12441302   PMID:12477932   PMID:12843324   PMID:12874121  
PMID:14628042   PMID:14702039   PMID:15123840   PMID:15226428   PMID:15489334   PMID:15492887   PMID:16189514   PMID:16652090   PMID:17130831   PMID:17519359   PMID:18029348   PMID:18381426  
PMID:18398830   PMID:18666230   PMID:19008232   PMID:19101580   PMID:19274049   PMID:19331807   PMID:19497856   PMID:19726883   PMID:19726885   PMID:20013809   PMID:20211142   PMID:20301554  
PMID:20301607   PMID:20395239   PMID:20548946   PMID:20603620   PMID:21370601   PMID:21427129   PMID:21516116   PMID:21700001   PMID:21706047   PMID:21873635   PMID:21874375   PMID:21988832  
PMID:22190591   PMID:22286765   PMID:22286770   PMID:22419738   PMID:22447252   PMID:22466647   PMID:22570617   PMID:22765220   PMID:22840486   PMID:23527134   PMID:24114014   PMID:24184484  
PMID:24263054   PMID:24438019   PMID:24551283   PMID:24574515   PMID:24593661   PMID:24613848   PMID:24706304   PMID:24730701   PMID:24866365   PMID:24899122   PMID:24970368   PMID:25031720  
PMID:25142796   PMID:25217961   PMID:25241763   PMID:25416956   PMID:25463612   PMID:25555392   PMID:25609649   PMID:25670082   PMID:25798827   PMID:25910212   PMID:25951369   PMID:26186194  
PMID:26235987   PMID:26408179   PMID:26473286   PMID:26490981   PMID:26500063   PMID:26773176   PMID:26802027   PMID:26884396   PMID:26927385   PMID:27000502   PMID:27241908   PMID:27259717  
PMID:27260188   PMID:27780136   PMID:27821176   PMID:27878258   PMID:27923061   PMID:28199476   PMID:28388884   PMID:28473536   PMID:28514442   PMID:28573504   PMID:28663559   PMID:28675297  
PMID:29043394   PMID:29190129   PMID:29333942   PMID:29449217   PMID:29455928   PMID:29656300   PMID:29660031   PMID:29807230   PMID:29844126   PMID:30387818   PMID:30548112   PMID:30723235  
PMID:30771307   PMID:30894749   PMID:30962263   PMID:31016902   PMID:31044528   PMID:31050834   PMID:31099050   PMID:31128917   PMID:31210295   PMID:31284308   PMID:31404537   PMID:31425971  
PMID:31955160   PMID:31980437   PMID:32191528   PMID:32196573   PMID:32220051   PMID:32227618   PMID:32296183   PMID:32460013   PMID:32564485   PMID:32719476   PMID:32826305   PMID:32863962  
PMID:33077306   PMID:33098377   PMID:33281191   PMID:33293473   PMID:33299122   PMID:33436522   PMID:33686961   PMID:33894811   PMID:33961781   PMID:34079090   PMID:34561318   PMID:34664392  
PMID:34711117   PMID:34713534   PMID:34742853   PMID:34782761   PMID:35046468   PMID:35182481   PMID:35271311  


Genomics

Comparative Map Data
SIX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381460,643,421 - 60,649,477 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1460,643,421 - 60,658,259 (-)EnsemblGRCh38hg38GRCh38
GRCh371461,110,139 - 61,116,195 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361460,182,506 - 60,185,933 (-)NCBINCBI36hg18NCBI36
Build 341460,182,505 - 60,185,933NCBI
Celera1441,161,682 - 41,166,417 (-)NCBI
Cytogenetic Map14q23.1NCBI
HuRef1441,274,621 - 41,279,356 (-)NCBIHuRef
CHM1_11461,050,553 - 61,055,290 (-)NCBICHM1_1
T2T-CHM13v2.01454,849,879 - 54,855,934 (-)NCBI
Six1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391273,088,601 - 73,093,486 (-)NCBIGRCm39mm39
GRCm39 Ensembl1273,086,789 - 73,100,661 (-)Ensembl
GRCm381273,041,827 - 73,046,712 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1273,040,015 - 73,053,887 (-)EnsemblGRCm38mm10GRCm38
MGSCv371274,142,814 - 74,147,699 (-)NCBIGRCm37mm9NCBIm37
MGSCv361273,960,668 - 73,965,302 (-)NCBImm8
Celera1274,158,405 - 74,163,290 (-)NCBICelera
Cytogenetic Map12C3NCBI
cM Map1230.34NCBI
Six1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2691,746,739 - 91,751,975 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl691,746,739 - 91,751,975 (-)Ensembl
Rnor_6.0695,929,060 - 95,934,296 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl695,929,060 - 95,934,296 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06105,364,372 - 105,369,608 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4695,470,153 - 95,475,389 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1695,475,346 - 95,478,212 (-)NCBI
Celera690,209,553 - 90,214,789 (-)NCBICelera
Cytogenetic Map6q24NCBI
Six1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554668,961,597 - 8,966,069 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554668,961,597 - 8,966,069 (+)NCBIChiLan1.0ChiLan1.0
SIX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11459,515,324 - 59,518,740 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1459,515,324 - 59,527,494 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01441,250,512 - 41,256,567 (-)NCBIMhudiblu_PPA_v0panPan3
SIX1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1835,676,705 - 35,679,534 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl835,676,479 - 35,679,534 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha835,430,686 - 35,433,517 (-)NCBI
ROS_Cfam_1.0835,909,922 - 35,912,747 (-)NCBI
ROS_Cfam_1.0 Ensembl835,909,922 - 35,913,208 (-)Ensembl
UMICH_Zoey_3.1835,522,041 - 35,524,863 (-)NCBI
UNSW_CanFamBas_1.0835,599,806 - 35,602,627 (-)NCBI
UU_Cfam_GSD_1.0835,960,733 - 35,963,565 (-)NCBI
Six1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864069,348,816 - 69,353,683 (+)NCBI
SpeTri2.0NW_0049364954,839,496 - 4,842,906 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SIX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1189,619,855 - 189,624,651 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11189,620,430 - 189,624,652 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21210,729,818 - 210,734,041 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SIX1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12437,840,399 - 37,855,801 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2437,840,309 - 37,845,192 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605326,090,242 - 26,095,370 (-)NCBIVero_WHO_p1.0
Six1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473440,453,420 - 40,459,671 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_00462473440,453,445 - 40,457,551 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371463,532,853 - 63,533,118UniSTSGRCh37
Build 361462,602,606 - 62,602,871RGDNCBI36
Celera1443,583,439 - 43,583,702RGD
HuRef1443,699,741 - 43,700,004UniSTS
Marshfield Genetic Map1468.59UniSTS
Marshfield Genetic Map1468.59RGD
Genethon Genetic Map1458.5UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS
RH78873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371461,112,259 - 61,112,377UniSTSGRCh37
Build 361460,182,012 - 60,182,130RGDNCBI36
Celera1441,162,523 - 41,162,641RGD
Cytogenetic Map14q23.1UniSTS
HuRef1441,275,462 - 41,275,580UniSTS
GeneMap99-GB4 RH Map14140.37UniSTS
RH106538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371461,112,767 - 61,113,008UniSTSGRCh37
Build 361460,182,520 - 60,182,761RGDNCBI36
Celera1441,163,030 - 41,163,271RGD
Cytogenetic Map14q23.1UniSTS
HuRef1441,275,969 - 41,276,210UniSTS
RH70939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371461,112,817 - 61,112,949UniSTSGRCh37
Build 361460,182,570 - 60,182,702RGDNCBI36
Celera1441,163,080 - 41,163,212RGD
Cytogenetic Map14q23.1UniSTS
HuRef1441,276,019 - 41,276,151UniSTS
GeneMap99-GB4 RH Map14140.37UniSTS
D14S290  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q23.1UniSTS
TNG Radiation Hybrid Map1420030.0UniSTS
Stanford-G3 RH Map142086.0UniSTS
GeneMap99-GB4 RH Map14146.65UniSTS
NCBI RH Map14635.0UniSTS
GeneMap99-G3 RH Map142134.0UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR185hsa-miR-185-5pOncomiRDBexternal_infoNANA20603620
MIR185hsa-miR-185-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Quantitative pFunctional MTI20603620

Predicted Target Of
Summary Value
Count of predictions:2595
Count of miRNA genes:963
Interacting mature miRNAs:1207
Transcripts:ENST00000247182, ENST00000553535, ENST00000554986, ENST00000555627, ENST00000555955
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 11 63 286 82 15 7 1049 806 306 30 258 156 76 206 835
Low 509 1239 787 142 156 56 2159 376 809 175 749 1195 97 1 888 1509 2
Below cutoff 1668 1125 444 197 954 196 1079 880 2572 191 399 258 1 110 442 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000553535
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1460,645,270 - 60,653,026 (-)Ensembl
RefSeq Acc Id: ENST00000554986   ⟹   ENSP00000452700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1460,644,696 - 60,658,259 (-)Ensembl
RefSeq Acc Id: ENST00000555627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1460,651,775 - 60,653,079 (-)Ensembl
RefSeq Acc Id: ENST00000555955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1460,644,931 - 60,653,131 (-)Ensembl
RefSeq Acc Id: ENST00000645694   ⟹   ENSP00000494686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1460,643,421 - 60,649,477 (-)Ensembl
RefSeq Acc Id: NM_005982   ⟹   NP_005973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,643,421 - 60,649,477 (-)NCBI
GRCh371461,111,417 - 61,116,155 (-)ENTREZGENE
Build 361460,182,506 - 60,185,933 (-)NCBI Archive
HuRef1441,274,621 - 41,279,356 (-)ENTREZGENE
CHM1_11461,050,553 - 61,055,290 (-)NCBI
T2T-CHM13v2.01454,849,879 - 54,855,934 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021602   ⟹   XP_016877091
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381460,643,421 - 60,649,477 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005973   ⟸   NM_005982
- UniProtKB: Q96H64 (UniProtKB/Swiss-Prot),   Q15475 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016877091   ⟸   XM_017021602
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000494686   ⟸   ENST00000645694
RefSeq Acc Id: ENSP00000452700   ⟸   ENST00000554986

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15475-F1-model_v2 AlphaFold Q15475 1-284 view protein structure

Promoters
RGD ID:6791874
Promoter ID:HG_KWN:19517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:OTTHUMT00000276951
Position:
Human AssemblyChrPosition (strand)Source
Build 361460,185,161 - 60,185,962 (-)MPROMDB
RGD ID:7227781
Promoter ID:EPDNEW_H19637
Type:initiation region
Name:SIX1_1
Description:SIX homeobox 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
GRCh381460,649,476 - 60,649,536EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) single nucleotide variant Branchiootic syndrome 3 [RCV000528335] Chr14:60646494 [GRCh38]
Chr14:61113212 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.510C>A (p.Asn170Lys) single nucleotide variant not provided [RCV000520421] Chr14:60648680 [GRCh38]
Chr14:61115398 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.474C>T (p.Ala158=) single nucleotide variant Branchiootic syndrome 3 [RCV000547625]|not provided [RCV001591237] Chr14:60648716 [GRCh38]
Chr14:61115434 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000679883]|Branchiootic syndrome 3 [RCV000008806]|Branchiootic syndrome 3 [RCV000763344]|Branchiootorenal syndrome 1 [RCV000055925]|not provided [RCV000413341] Chr14:60648804 [GRCh38]
Chr14:61115522 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) single nucleotide variant Branchiootic syndrome 3 [RCV000008807]|not provided [RCV002262561] Chr14:60648862 [GRCh38]
Chr14:61115580 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.397_399del (p.Glu133del) deletion Autosomal dominant nonsyndromic hearing loss 23 [RCV000008808]|Branchiootic syndrome 3 [RCV000020636] Chr14:60648791..60648793 [GRCh38]
Chr14:61115509..61115511 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) single nucleotide variant Branchiootic syndrome 3 [RCV000008809] Chr14:60648826 [GRCh38]
Chr14:61115544 [GRCh37]
Chr14:14q23.1
pathogenic
GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1 copy number loss See cases [RCV000050892] Chr14:59917051..66750803 [GRCh38]
Chr14:60383769..67217521 [GRCh37]
Chr14:59453522..66287274 [NCBI36]
Chr14:14q23.1-23.3
pathogenic
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
NM_005982.4(SIX1):c.317T>G (p.Val106Gly) single nucleotide variant Branchiootorenal syndrome 1 [RCV000055923] Chr14:60648873 [GRCh38]
Chr14:61115591 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys) single nucleotide variant Branchiootorenal syndrome 1 [RCV000055924] Chr14:60648856 [GRCh38]
Chr14:61115574 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.50T>A (p.Val17Glu) single nucleotide variant Branchiootorenal syndrome 1 [RCV000055926] Chr14:60649140 [GRCh38]
Chr14:61115858 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.114C>T (p.Pro38=) single nucleotide variant not provided [RCV000909892]|not specified [RCV000603022] Chr14:60649076 [GRCh38]
Chr14:61115794 [GRCh37]
Chr14:14q23.1
likely benign
NC_000014.8:g.(?_60976117)_(61191013_?)dup duplication Branchiootic syndrome 3 [RCV001295953]|not provided [RCV001323555] Chr14:60976117..61191013 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh38/hg38 14q23.1(chr14:60401009-60861986)x3 copy number gain See cases [RCV000133687] Chr14:60401009..60861986 [GRCh38]
Chr14:60867727..61328704 [GRCh37]
Chr14:59937480..60398457 [NCBI36]
Chr14:14q23.1
uncertain significance
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_005982.4(SIX1):c.560+1G>C single nucleotide variant Branchiootic syndrome 3 [RCV000201277] Chr14:60648629 [GRCh38]
Chr14:61115347 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000190433]|Branchiootic syndrome 3 [RCV001852527] Chr14:60648817 [GRCh38]
Chr14:61115535 [GRCh37]
Chr14:14q23.1
pathogenic|likely pathogenic
NM_005982.4(SIX1):c.162G>A (p.Ala54=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000383302]|Branchiootic syndrome 3 [RCV000328781]|Branchiootic syndrome 3 [RCV000871377]|not provided [RCV001610531]|not specified [RCV000221837] Chr14:60649028 [GRCh38]
Chr14:61115746 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.487C>G (p.Leu163Val) single nucleotide variant not specified [RCV000215644] Chr14:60648703 [GRCh38]
Chr14:61115421 [GRCh37]
Chr14:14q23.1
uncertain significance
GRCh37/hg19 14q23.1(chr14:61112483-61117448)x1 copy number loss See cases [RCV000239837] Chr14:61112483..61117448 [GRCh37]
Chr14:14q23.1
pathogenic|uncertain significance
NM_005982.4(SIX1):c.*1044G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000265693]|Branchiootic syndrome 3 [RCV000320701] Chr14:60645239 [GRCh38]
Chr14:61111957 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*755T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000398681]|Branchiootic syndrome 3 [RCV000302778] Chr14:60645528 [GRCh38]
Chr14:61112246 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*602G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000304025]|Branchiootic syndrome 3 [RCV000355075] Chr14:60645681 [GRCh38]
Chr14:61112399 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.180C>G (p.Arg60=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000363362]|Branchiootic syndrome 3 [RCV000269066]|Branchiootic syndrome 3 [RCV000873413]|not provided [RCV001697663] Chr14:60649010 [GRCh38]
Chr14:61115728 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.-213C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000271159]|Branchiootic syndrome 3 [RCV000310023] Chr14:60649402 [GRCh38]
Chr14:61116120 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-184A>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000401629]|Branchiootic syndrome 3 [RCV000350945] Chr14:60649373 [GRCh38]
Chr14:61116091 [GRCh37]
Chr14:14q23.1
benign|likely benign|uncertain significance
NM_005982.4(SIX1):c.*404A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000330723]|Branchiootic syndrome 3 [RCV000389819] Chr14:60645879 [GRCh38]
Chr14:61112597 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*334C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000291661]|Branchiootic syndrome 3 [RCV000381259] Chr14:60645949 [GRCh38]
Chr14:61112667 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.*443A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000356079]|Branchiootic syndrome 3 [RCV000275626] Chr14:60645840 [GRCh38]
Chr14:61112558 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*1496C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000313662]|Branchiootic syndrome 3 [RCV000400787] Chr14:60644787 [GRCh38]
Chr14:61111505 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*578_*581del deletion Branchiootorenal Spectrum Disorders [RCV000320000]|Nonsyndromic Hearing Loss, Dominant [RCV000260181] Chr14:60645702..60645705 [GRCh38]
Chr14:61112420..61112423 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*371A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000326684]|Branchiootic syndrome 3 [RCV000276797] Chr14:60645912 [GRCh38]
Chr14:61112630 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000313323]|Branchiootic syndrome 3 [RCV000276902]|not provided [RCV001718645] Chr14:60646560 [GRCh38]
Chr14:61113278 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*767A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000296012]|Branchiootic syndrome 3 [RCV000386067] Chr14:60645516 [GRCh38]
Chr14:61112234 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*265del deletion Branchiootorenal Spectrum Disorders [RCV000297057]|Nonsyndromic Hearing Loss, Dominant [RCV000402316]|not provided [RCV001613001] Chr14:60646018 [GRCh38]
Chr14:61112736 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.*1008del deletion Branchiootorenal Spectrum Disorders [RCV000361412]|Nonsyndromic Hearing Loss, Dominant [RCV000261020] Chr14:60645275 [GRCh38]
Chr14:61111993 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.-14G>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000265501]|Branchiootic syndrome 3 [RCV000320777] Chr14:60649203 [GRCh38]
Chr14:61115921 [GRCh37]
Chr14:14q23.1
benign|likely benign|uncertain significance
NM_005982.4(SIX1):c.-137C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000337279]|Branchiootic syndrome 3 [RCV000282205] Chr14:60649326 [GRCh38]
Chr14:61116044 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*883CTAGTTT[1] microsatellite Branchiootorenal Spectrum Disorders [RCV000281088]|Nonsyndromic Hearing Loss, Dominant [RCV000331491] Chr14:60645387..60645393 [GRCh38]
Chr14:61112105..61112111 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*297T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000346596]|Branchiootic syndrome 3 [RCV000377965]|not provided [RCV001564856] Chr14:60645986 [GRCh38]
Chr14:61112704 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.-185T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000363458]|Branchiootic syndrome 3 [RCV000306559] Chr14:60649374 [GRCh38]
Chr14:61116092 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*766del deletion Branchiootorenal Spectrum Disorders [RCV000395530]|Nonsyndromic Hearing Loss, Dominant [RCV000350876] Chr14:60645517 [GRCh38]
Chr14:61112235 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.*1079T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000364972]|Branchiootic syndrome 3 [RCV000310045] Chr14:60645204 [GRCh38]
Chr14:61111922 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.822C>T (p.Pro274=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000312292]|Branchiootic syndrome 3 [RCV000366785]|not provided [RCV000733965] Chr14:60646316 [GRCh38]
Chr14:61113034 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*736T>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000399522]|Branchiootic syndrome 3 [RCV000357514] Chr14:60645547 [GRCh38]
Chr14:61112265 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-121C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000372056]|Branchiootic syndrome 3 [RCV000335974] Chr14:60649310 [GRCh38]
Chr14:61116028 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.*1268AT[1] microsatellite Branchiootorenal Spectrum Disorders [RCV000392941]|Nonsyndromic Hearing Loss, Dominant [RCV000363723] Chr14:60645012..60645013 [GRCh38]
Chr14:61111730..61111731 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.560+25C>G single nucleotide variant not provided [RCV001566467] Chr14:60648605 [GRCh38]
Chr14:61115323 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.-281C>T single nucleotide variant not provided [RCV001574175] Chr14:60649470 [GRCh38]
Chr14:61116188 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.330G>A (p.Arg110=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001109340]|Branchiootic syndrome 3 [RCV001109341]|Branchiootic syndrome 3 [RCV002062005]|not provided [RCV000596168] Chr14:60648860 [GRCh38]
Chr14:61115578 [GRCh37]
Chr14:14q23.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005982.4(SIX1):c.-255G>T single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000306945]|Nonsyndromic Hearing Loss, Dominant [RCV000345183] Chr14:60649444 [GRCh38]
Chr14:61116162 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*1001T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000316192]|Branchiootic syndrome 3 [RCV000375554] Chr14:60645282 [GRCh38]
Chr14:61112000 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*1571T>C single nucleotide variant Branchiootorenal Spectrum Disorders [RCV000293322]|Nonsyndromic Hearing Loss, Dominant [RCV000348348] Chr14:60644712 [GRCh38]
Chr14:61111430 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*268CAAA[2] microsatellite Branchiootorenal Spectrum Disorders [RCV000343348]|Nonsyndromic Hearing Loss, Dominant [RCV000283699] Chr14:60646004..60646007 [GRCh38]
Chr14:61112722..61112725 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.690G>C (p.Ser230=) single nucleotide variant not provided [RCV000584896] Chr14:60646448 [GRCh38]
Chr14:61113166 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-84C>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000380072]|Branchiootic syndrome 3 [RCV000285654] Chr14:60649273 [GRCh38]
Chr14:61115991 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*161C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000338038]|Branchiootic syndrome 3 [RCV000398336] Chr14:60646122 [GRCh38]
Chr14:61112840 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*765_*766del deletion Branchiootorenal Spectrum Disorders [RCV000287712]|Nonsyndromic Hearing Loss, Dominant [RCV000347233] Chr14:60645517..60645518 [GRCh38]
Chr14:61112235..61112236 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-161G>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV000397340]|Branchiootic syndrome 3 [RCV000312472] Chr14:60649350 [GRCh38]
Chr14:61116068 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.326dup (p.Tyr109Ter) duplication not provided [RCV000592334] Chr14:60648863..60648864 [GRCh38]
Chr14:61115581..61115582 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.402G>A (p.Lys134=) single nucleotide variant Branchiootic syndrome 3 [RCV002065143]|not provided [RCV000598228] Chr14:60648788 [GRCh38]
Chr14:61115506 [GRCh37]
Chr14:14q23.1
benign|conflicting interpretations of pathogenicity|uncertain significance
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
NM_005982.4(SIX1):c.548A>G (p.Glu183Gly) single nucleotide variant not provided [RCV000483984] Chr14:60648642 [GRCh38]
Chr14:61115360 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.329G>A (p.Arg110Gln) single nucleotide variant not provided [RCV000482613] Chr14:60648861 [GRCh38]
Chr14:61115579 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) single nucleotide variant Branchiootic syndrome 3 [RCV000477918] Chr14:60648730 [GRCh38]
Chr14:61115448 [GRCh37]
Chr14:14q23.1
likely 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_005982.4(SIX1):c.746C>A (p.Pro249Gln) single nucleotide variant Branchiootic syndrome 3 [RCV002066828]|not provided [RCV001591374]|not specified [RCV000613496] Chr14:60646392 [GRCh38]
Chr14:61113110 [GRCh37]
Chr14:14q23.1
benign|likely benign|uncertain significance
NM_005982.4(SIX1):c.191G>A (p.Arg64His) single nucleotide variant Branchiootic syndrome 3 [RCV000706990]|Hearing impairment [RCV001375398]|not provided [RCV000512900] Chr14:60648999 [GRCh38]
Chr14:61115717 [GRCh37]
Chr14:14q23.1
conflicting interpretations of pathogenicity|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
NM_005982.4(SIX1):c.213G>A (p.Glu71=) single nucleotide variant not provided [RCV000976788] Chr14:60648977 [GRCh38]
Chr14:61115695 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.517A>C (p.Lys173Gln) single nucleotide variant Branchiootic syndrome 3 [RCV001542488]|not provided [RCV001773768] Chr14:60648673 [GRCh38]
Chr14:61115391 [GRCh37]
Chr14:14q23.1
likely pathogenic|uncertain significance
NM_005982.4(SIX1):c.469C>G (p.Leu157Val) single nucleotide variant not provided [RCV000761879] Chr14:60648721 [GRCh38]
Chr14:61115439 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.561-21G>A single nucleotide variant not provided [RCV001571415] Chr14:60646598 [GRCh38]
Chr14:61113316 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.109C>T (p.Leu37=) single nucleotide variant not provided [RCV001584702] Chr14:60649081 [GRCh38]
Chr14:61115799 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.339A>C (p.Arg113=) single nucleotide variant not provided [RCV000942631] Chr14:60648851 [GRCh38]
Chr14:61115569 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.465G>A (p.Arg155=) single nucleotide variant not provided [RCV000872443] Chr14:60648725 [GRCh38]
Chr14:61115443 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.816C>T (p.Leu272=) single nucleotide variant not provided [RCV000929064] Chr14:60646322 [GRCh38]
Chr14:61113040 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) single nucleotide variant Branchiootic syndrome 1 [RCV000857227]|Branchiootic syndrome 3 [RCV001799516]|not specified [RCV000825046] Chr14:60648804 [GRCh38]
Chr14:61115522 [GRCh37]
Chr14:14q23.1
pathogenic|uncertain significance
NM_005982.4(SIX1):c.560+7G>C single nucleotide variant not provided [RCV000992987] Chr14:60648623 [GRCh38]
Chr14:61115341 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001114980]|Branchiootic syndrome 3 [RCV001109337]|not provided [RCV000782257] Chr14:60646459 [GRCh38]
Chr14:61113177 [GRCh37]
Chr14:14q23.1
benign|likely benign|uncertain significance
NM_005982.4(SIX1):c.-45C>T single nucleotide variant not provided [RCV000839928] Chr14:60649234 [GRCh38]
Chr14:61115952 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*766T>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001114880]|Branchiootic syndrome 3 [RCV001114879] Chr14:60645517 [GRCh38]
Chr14:61112235 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-213C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001115083]|Branchiootic syndrome 3 [RCV001115082] Chr14:60649402 [GRCh38]
Chr14:61116120 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.495C>T (p.Thr165=) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001109338]|Branchiootic syndrome 3 [RCV001109339] Chr14:60648695 [GRCh38]
Chr14:61115413 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-24C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001111664]|Branchiootic syndrome 3 [RCV001111663] Chr14:60649213 [GRCh38]
Chr14:61115931 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.838G>A (p.Val280Met) single nucleotide variant not provided [RCV001566904] Chr14:60646300 [GRCh38]
Chr14:61113018 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.-286G>A single nucleotide variant not provided [RCV001561095] Chr14:60649475 [GRCh38]
Chr14:61116193 [GRCh37]
Chr14:14q23.1
likely benign
Single allele deletion not provided [RCV001597949] Chr14:60649490 [GRCh38]
Chr14:61116208 [GRCh37]
Chr14:14q23.1
benign
Single allele single nucleotide variant not provided [RCV001581455] Chr14:60649575 [GRCh38]
Chr14:61116293 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.561-34_561-31del deletion Autosomal dominant nonsyndromic hearing loss 23 [RCV001807423]|Branchiootic syndrome 3 [RCV001807422]|not provided [RCV001558041] Chr14:60646608..60646611 [GRCh38]
Chr14:61113326..61113329 [GRCh37]
Chr14:14q23.1
benign|likely benign
NM_005982.4(SIX1):c.561-33_561-31del deletion not provided [RCV001673745] Chr14:60646608..60646610 [GRCh38]
Chr14:61113326..61113328 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.258G>C (p.Leu86=) single nucleotide variant not provided [RCV000952038] Chr14:60648932 [GRCh38]
Chr14:61115650 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.756A>C (p.Thr252=) single nucleotide variant not provided [RCV000916950] Chr14:60646382 [GRCh38]
Chr14:61113100 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.360C>T (p.Thr120=) single nucleotide variant not provided [RCV000906342] Chr14:60648830 [GRCh38]
Chr14:61115548 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.*264_*265del deletion not provided [RCV001548350] Chr14:60646018..60646019 [GRCh38]
Chr14:61112736..61112737 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.501G>C (p.Gln167His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV002251289] Chr14:60648689 [GRCh38]
Chr14:61115407 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.316G>A (p.Val106Met) single nucleotide variant Branchiootic syndrome 3 [RCV001568419] Chr14:60648874 [GRCh38]
Chr14:61115592 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_005982.4(SIX1):c.*1251A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001111473]|Branchiootic syndrome 3 [RCV001111474] Chr14:60645032 [GRCh38]
Chr14:61111750 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*1232T>C single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001111475]|Branchiootic syndrome 3 [RCV001111476] Chr14:60645051 [GRCh38]
Chr14:61111769 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*140C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001114975]|Branchiootic syndrome 3 [RCV001113573] Chr14:60646143 [GRCh38]
Chr14:61112861 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.705G>T (p.Gln235His) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001002755] Chr14:60646433 [GRCh38]
Chr14:61113151 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.561-32_561-31del deletion not provided [RCV001541699] Chr14:60646608..60646609 [GRCh38]
Chr14:61113326..61113327 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.561-31del deletion not provided [RCV001612340] Chr14:60646608 [GRCh38]
Chr14:61113326 [GRCh37]
Chr14:14q23.1
benign
NM_005982.4(SIX1):c.560+174G>C single nucleotide variant not provided [RCV001586645] Chr14:60648456 [GRCh38]
Chr14:61115174 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.597G>C (p.Lys199Asn) single nucleotide variant not provided [RCV001531194] Chr14:60646541 [GRCh38]
Chr14:61113259 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.510C>G (p.Asn170Lys) single nucleotide variant not provided [RCV001531195] Chr14:60648680 [GRCh38]
Chr14:61115398 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_005982.4(SIX1):c.*1080A>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001113477]|Branchiootic syndrome 3 [RCV001111477] Chr14:60645203 [GRCh38]
Chr14:61111921 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*266C>A single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001113569]|Branchiootic syndrome 3 [RCV001113570] Chr14:60646017 [GRCh38]
Chr14:61112735 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*249A>G single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001113571]|Branchiootic syndrome 3 [RCV001113572] Chr14:60646034 [GRCh38]
Chr14:61112752 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001114976]|Branchiootic syndrome 3 [RCV001114977]|not provided [RCV001563359] Chr14:60646392 [GRCh38]
Chr14:61113110 [GRCh37]
Chr14:14q23.1
likely benign|uncertain significance
NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001114978]|Branchiootic syndrome 3 [RCV001114979]|not provided [RCV001772329] Chr14:60646457 [GRCh38]
Chr14:61113175 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*858C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001113478]|Branchiootic syndrome 3 [RCV001114878] Chr14:60645425 [GRCh38]
Chr14:61112143 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.*688C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001109235]|Branchiootic syndrome 3 [RCV001109236] Chr14:60645595 [GRCh38]
Chr14:61112313 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.416T>G (p.Leu139Arg) single nucleotide variant Branchiootic syndrome 3 [RCV001250998] Chr14:60648774 [GRCh38]
Chr14:61115492 [GRCh37]
Chr14:14q23.1
likely pathogenic
GRCh37/hg19 14q23.1(chr14:60958879-61194753)x3 copy number gain not provided [RCV001259672] Chr14:60958879..61194753 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.1A>C (p.Met1Leu) single nucleotide variant Branchiootic syndrome 3 [RCV001262831] Chr14:60649189 [GRCh38]
Chr14:61115907 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.313G>T (p.Ala105Ser) single nucleotide variant Hearing impairment [RCV001375100] Chr14:60648877 [GRCh38]
Chr14:61115595 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) single nucleotide variant Branchiootic syndrome 3 [RCV001331501] Chr14:60646518 [GRCh38]
Chr14:61113236 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.338G>A (p.Arg113Gln) single nucleotide variant Hearing impairment [RCV001375101] Chr14:60648852 [GRCh38]
Chr14:61115570 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.720C>T (p.His240=) single nucleotide variant Branchiootic syndrome 3 [RCV001436878] Chr14:60646418 [GRCh38]
Chr14:61113136 [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_005982.4(SIX1):c.209T>G (p.Leu70Arg) single nucleotide variant not provided [RCV001756584] Chr14:60648981 [GRCh38]
Chr14:61115699 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.713T>G (p.Met238Arg) single nucleotide variant not provided [RCV001763437] Chr14:60646425 [GRCh38]
Chr14:61113143 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.533G>C (p.Arg178Thr) single nucleotide variant not provided [RCV002255056] Chr14:60648657 [GRCh38]
Chr14:61115375 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.524G>A (p.Arg175Gln) single nucleotide variant Branchiootic syndrome 3 [RCV001861090]|not provided [RCV001770639] Chr14:60648666 [GRCh38]
Chr14:61115384 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.568A>G (p.Thr190Ala) single nucleotide variant not provided [RCV001770863] Chr14:60646570 [GRCh38]
Chr14:61113288 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.531_532del (p.Asp179fs) deletion not provided [RCV001767368] Chr14:60648658..60648659 [GRCh38]
Chr14:61115376..61115377 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.559A>G (p.Arg187Gly) single nucleotide variant not provided [RCV001752433] Chr14:60648631 [GRCh38]
Chr14:61115349 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.561-13C>T single nucleotide variant Autosomal dominant nonsyndromic hearing loss 23 [RCV001733632] Chr14:60646590 [GRCh38]
Chr14:61113308 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) single nucleotide variant Branchiootic syndrome 3 [RCV001789841] Chr14:60648794 [GRCh38]
Chr14:61115512 [GRCh37]
Chr14:14q23.1
pathogenic
NM_005982.4(SIX1):c.316G>T (p.Val106Leu) single nucleotide variant Autosomal dominant nonsyndromic hearing loss [RCV001794854] Chr14:60648874 [GRCh38]
Chr14:61115592 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_005982.4(SIX1):c.524G>C (p.Arg175Pro) single nucleotide variant not provided [RCV001758341] Chr14:60648666 [GRCh38]
Chr14:61115384 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.615T>G (p.Pro205=) single nucleotide variant Branchiootic syndrome 3 [RCV002074171]|not provided [RCV001806508] Chr14:60646523 [GRCh38]
Chr14:61113241 [GRCh37]
Chr14:14q23.1
benign|likely benign
GRCh37/hg19 14q23.1(chr14:60958879-61211351)x3 copy number gain not provided [RCV001829179] Chr14:60958879..61211351 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.811_812del (p.Leu271fs) microsatellite Branchiootic syndrome 3 [RCV001874456] Chr14:60646326..60646327 [GRCh38]
Chr14:61113044..61113045 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.328C>G (p.Arg110Gly) single nucleotide variant Branchiootic syndrome 3 [RCV001837350] Chr14:60648862 [GRCh38]
Chr14:61115580 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.419G>A (p.Arg140Gln) single nucleotide variant Branchiootic syndrome 3 [RCV002038989] Chr14:60648771 [GRCh38]
Chr14:61115489 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.115G>T (p.Ala39Ser) single nucleotide variant Branchiootic syndrome 3 [RCV001935752] Chr14:60649075 [GRCh38]
Chr14:61115793 [GRCh37]
Chr14:14q23.1
uncertain significance
NM_005982.4(SIX1):c.329G>T (p.Arg110Leu) single nucleotide variant Branchiootic syndrome 3 [RCV002027546] Chr14:60648861 [GRCh38]
Chr14:61115579 [GRCh37]
Chr14:14q23.1
likely pathogenic
NM_005982.4(SIX1):c.357C>T (p.Arg119=) single nucleotide variant Branchiootic syndrome 3 [RCV002087704] Chr14:60648833 [GRCh38]
Chr14:61115551 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.414C>T (p.Val138=) single nucleotide variant Branchiootic syndrome 3 [RCV002094999] Chr14:60648776 [GRCh38]
Chr14:61115494 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.854A>G (p.Ter285=) single nucleotide variant Branchiootic syndrome 3 [RCV002093644] Chr14:60646284 [GRCh38]
Chr14:61113002 [GRCh37]
Chr14:14q23.1
likely benign
NM_005982.4(SIX1):c.24C>G (p.Gly8=) single nucleotide variant Branchiootic syndrome 3 [RCV002123678] Chr14:60649166 [GRCh38]
Chr14:61115884 [GRCh37]
Chr14:14q23.1
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10887 AgrOrtholog
COSMIC SIX1 COSMIC
Ensembl Genes ENSG00000126778 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000452700.2 UniProtKB/TrEMBL
  ENSP00000494686 ENTREZGENE
  ENSP00000494686.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000554986.2 UniProtKB/TrEMBL
  ENST00000645694 ENTREZGENE
  ENST00000645694.3 UniProtKB/Swiss-Prot
GTEx ENSG00000126778 GTEx
HGNC ID HGNC:10887 ENTREZGENE
Human Proteome Map SIX1 Human Proteome Map
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  SIX1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SIX1_SD UniProtKB/Swiss-Prot
KEGG Report hsa:6495 UniProtKB/Swiss-Prot
NCBI Gene 6495 ENTREZGENE
OMIM 601205 OMIM
  605192 OMIM
  608389 OMIM
PANTHER PTHR10390:SF13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Homeodomain UniProtKB/Swiss-Prot
  SIX1_SD UniProtKB/Swiss-Prot
PharmGKB PA35787 PharmGKB
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt H0YK85_HUMAN UniProtKB/TrEMBL
  Q15475 ENTREZGENE
  Q96H64 ENTREZGENE
  SIX1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53Y16 UniProtKB/Swiss-Prot
  Q96H64 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 SIX1  SIX homeobox 1  DFNA23  deafness, autosomal dominant 23  Data Merged 737654 PROVISIONAL