TWIST1 (twist family bHLH transcription factor 1) - Rat Genome Database

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Gene: TWIST1 (twist family bHLH transcription factor 1) Homo sapiens
Analyze
Symbol: TWIST1
Name: twist family bHLH transcription factor 1
RGD ID: 1349130
HGNC Page HGNC
Description: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; E-box binding activity; and bHLH transcription factor binding activity. Involved in several processes, including animal organ development; regulation of cellular response to stress; and regulation of gene expression. Located in nucleus. Implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Biomarker of pulmonary fibrosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ACS3; B-HLH DNA binding protein; bHLHa38; BPES2; BPES3; class A basic helix-loop-helix protein 38; craniosynostosis; CRS; CRS1; CSO; H-twist; SCS; SWCOS; TWIST; twist basic helix-loop-helix transcription factor 1; twist homolog 1; TWIST homolog of drosophila; twist-related protein 1
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
GRCh38.p13 Ensembl719,020,991 - 19,117,636 (-)EnsemblGRCh38hg38GRCh38
GRCh38719,113,047 - 19,117,636 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37719,152,670 - 19,157,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36719,121,616 - 19,123,820 (-)NCBINCBI36hg18NCBI36
Build 34718,928,330 - 18,930,265NCBI
Celera719,134,693 - 19,136,894 (-)NCBI
Cytogenetic Map7p21.1NCBI
HuRef719,039,766 - 19,041,695 (-)NCBIHuRef
CHM1_1719,155,871 - 19,158,073 (-)NCBICHM1_1
CRA_TCAGchr7v2719,206,542 - 19,208,746 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
17beta-estradiol  (EXP)
2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)propanoic acid  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-ethylhexan-1-ol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
coumestrol  (EXP)
crizotinib  (EXP)
dexamethasone  (EXP)
diallyl trisulfide  (EXP)
dieckol  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
Enterolactone  (EXP)
erlotinib hydrochloride  (EXP,ISO)
finasteride  (ISO)
flurbiprofen  (ISO)
folic acid  (ISO)
fonofos  (EXP)
gefitinib  (EXP)
isobutanol  (EXP)
L-methionine  (ISO)
lapatinib  (EXP)
losartan  (EXP,ISO)
LY294002  (EXP)
malathion  (EXP)
melatonin  (EXP)
mercury dibromide  (EXP)
methylmercury chloride  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
niclosamide  (EXP)
nicotine  (EXP)
osimertinib  (EXP)
ouabain  (EXP)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
Pachymic acid  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (ISO)
parathion  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
progesterone  (EXP)
quercetin  (EXP,ISO)
reparixin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
sorafenib  (ISO)
stattic  (EXP)
sunitinib  (EXP)
Swertiamarin  (ISO)
terbufos  (EXP)
testosterone  (ISO)
tetraethylenepentamine  (EXP,ISO)
thymoquinone  (EXP)
topotecan  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
undecane  (ISO)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aortic valve morphogenesis  (IMP)
bone development  (ISO)
cardiac neural crest cell development involved in outflow tract morphogenesis  (ISO)
cardiac neural crest cell migration involved in outflow tract morphogenesis  (IEA,ISO)
cell differentiation  (ISO)
cell proliferation involved in heart valve development  (IMP)
cellular response to growth factor stimulus  (IEA,ISO)
cellular response to hypoxia  (IMP)
cranial suture morphogenesis  (ISO,TAS)
developmental process  (IBA)
embryonic camera-type eye formation  (IMP)
embryonic cranial skeleton morphogenesis  (IMP,ISO)
embryonic digit morphogenesis  (ISO,TAS)
embryonic forelimb morphogenesis  (IEA,ISO)
embryonic hindlimb morphogenesis  (IEA)
embryonic limb morphogenesis  (ISO)
embryonic skeletal system morphogenesis  (ISO)
endocardial cushion morphogenesis  (IEA,ISO)
eyelid development in camera-type eye  (IMP)
hindlimb morphogenesis  (ISO)
in utero embryonic development  (IEA,ISO)
mitral valve morphogenesis  (IEA)
muscle organ development  (IEA)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cell differentiation  (ISO)
negative regulation of cellular senescence  (IMP)
negative regulation of DNA damage response, signal transduction by p53 class mediator  (IMP)
negative regulation of DNA-binding transcription factor activity  (IEA)
negative regulation of double-strand break repair  (IMP)
negative regulation of histone acetylation  (IEA)
negative regulation of histone phosphorylation  (IMP)
negative regulation of molecular function  (ISO)
negative regulation of osteoblast differentiation  (IMP,ISO)
negative regulation of oxidative phosphorylation uncoupler activity  (IEA)
negative regulation of peroxisome proliferator activated receptor signaling pathway  (IEA)
negative regulation of phosphatidylinositol 3-kinase signaling  (IMP)
negative regulation of skeletal muscle tissue development  (IEA,ISO)
negative regulation of striated muscle tissue development  (ISO)
negative regulation of transcription by RNA polymerase II  (IMP,ISO)
negative regulation of transcription, DNA-templated  (IDA,ISS)
negative regulation of tumor necrosis factor production  (IEA,ISO)
neural tube closure  (IEA,ISO)
neuron migration  (IEA,ISO)
odontogenesis  (IEA,ISO)
ossification  (ISO,TAS)
osteoblast differentiation  (IEA,ISO)
outer ear morphogenesis  (TAS)
positive regulation of angiogenesis  (NAS)
positive regulation of cell motility  (IMP,NAS)
positive regulation of DNA-templated transcription, initiation  (IDA)
positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation  (IEA)
positive regulation of epithelial cell proliferation  (IEA,ISO)
positive regulation of epithelial to mesenchymal transition  (IMP)
positive regulation of fatty acid beta-oxidation  (IMP)
positive regulation of gene expression  (IMP)
positive regulation of interleukin-6 production  (IMP)
positive regulation of monocyte chemotactic protein-1 production  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IMP,ISO)
positive regulation of transcription regulatory region DNA binding  (IMP)
positive regulation of tumor necrosis factor production  (IMP)
regulation of bone mineralization  (IMP)
regulation of transcription by RNA polymerase II  (IBA)
rhythmic process  (IEA)
roof of mouth development  (IEA,ISO)

Cellular Component
chromatin  (ISA)
nucleoplasm  (TAS)
nucleus  (IDA,ISO)

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

Human Phenotype
Abnormal form of the vertebral bodies  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal nasolacrimal system morphology  (IAGP)
Abnormality of cardiovascular system morphology  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Abnormality of the antihelix  (IAGP)
Absent first metatarsal  (IAGP)
Amblyopia  (IAGP)
Anal atresia  (IAGP)
Asplenia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral cryptorchidism  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Blepharospasm  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Breast carcinoma  (IAGP)
Broad forehead  (IAGP)
Broad hallux  (IAGP)
Broad neck  (IAGP)
Broad thumb  (IAGP)
Buphthalmos  (IAGP)
Cerebellar hypoplasia  (IAGP)
Choanal atresia  (IAGP)
Cleft of chin  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Conductive hearing impairment  (IAGP)
Convex nasal ridge  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cupped ear  (IAGP)
Cutaneous syndactyly  (IAGP)
Delayed cranial suture closure  (IAGP)
Depressed nasal bridge  (IAGP)
Dolichocephaly  (IAGP)
Duplication of phalanx of hallux  (IAGP)
Epicanthus  (IAGP)
External ear malformation  (IAGP)
Facial asymmetry  (IAGP)
Finger syndactyly  (IAGP)
Flat face  (IAGP)
Flat forehead  (IAGP)
Frontal bossing  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Global developmental delay  (IAGP)
Hallux valgus  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Hyperlordosis  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypotelorism  (IAGP)
Increased intracranial pressure  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Lambdoidal craniosynostosis  (IAGP)
Long fingers  (IAGP)
Long nose  (IAGP)
Low anterior hairline  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Malar flattening  (IAGP)
Metacarpal synostosis  (IAGP)
Micrognathia  (IAGP)
Microtia  (IAGP)
Midface retrusion  (IAGP)
Migraine  (IAGP)
Narrow internal auditory canal  (IAGP)
Narrow mouth  (IAGP)
Narrow nose  (IAGP)
Narrow palate  (IAGP)
Open bite  (IAGP)
Optic atrophy  (IAGP)
Overfolded helix  (IAGP)
Oxycephaly  (IAGP)
Parietal foramina  (IAGP)
Partial duplication of the distal phalanx of the 2nd finger  (IAGP)
Partial duplication of the distal phalanx of the 3rd finger  (IAGP)
Plagiocephaly  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Prominent crus of helix  (IAGP)
Prominent metopic ridge  (IAGP)
Prominent nasal bridge  (IAGP)
Prominent occiput  (IAGP)
Proptosis  (IAGP)
Proximal radio-ulnar synostosis  (IAGP)
Ptosis  (IAGP)
Radioulnar synostosis  (IAGP)
Scaphocephaly  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shallow orbits  (IAGP)
Short clavicles  (IAGP)
Short columella  (IAGP)
Short philtrum  (IAGP)
Short stature  (IAGP)
Skull asymmetry  (IAGP)
Sleep apnea  (IAGP)
Strabismus  (IAGP)
Toe syndactyly  (IAGP)
Triphalangeal thumb  (IAGP)
Turricephaly  (IAGP)
Underdeveloped nasal alae  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upper eyelid coloboma  (IAGP)
Variable expressivity  (IAGP)
Visual field defect  (IAGP)
Wide anterior fontanel  (IAGP)
Wide nasal bridge  (IAGP)
Widow's peak  (IAGP)
References

Additional References at PubMed
PMID:1433226   PMID:7296937   PMID:7987323   PMID:8968762   PMID:8988167   PMID:8995765   PMID:9073070   PMID:9215678   PMID:9259286   PMID:9343420   PMID:9934984   PMID:10025406  
PMID:10465122   PMID:10485844   PMID:10749989   PMID:11001584   PMID:11062344   PMID:11248247   PMID:11474656   PMID:11748846   PMID:11754069   PMID:11854168   PMID:11948912   PMID:11977182  
PMID:12015302   PMID:12142027   PMID:12218784   PMID:12270142   PMID:12477932   PMID:12553906   PMID:12690205   PMID:12791045   PMID:12853948   PMID:14513358   PMID:14724576   PMID:15210113  
PMID:15313894   PMID:15489334   PMID:15545268   PMID:15555546   PMID:15607966   PMID:15735646   PMID:15880747   PMID:15900593   PMID:15923834   PMID:15958559   PMID:16229805   PMID:16251895  
PMID:16293629   PMID:16322226   PMID:16412561   PMID:16502419   PMID:16540516   PMID:16737925   PMID:16831897   PMID:16888803   PMID:17003487   PMID:17070479   PMID:17157810   PMID:17236203  
PMID:17332324   PMID:17332325   PMID:17343269   PMID:17394502   PMID:17403902   PMID:17414280   PMID:17487558   PMID:17512904   PMID:17690110   PMID:17785550   PMID:17886095   PMID:17893140  
PMID:17925286   PMID:17967182   PMID:17987801   PMID:18062917   PMID:18172301   PMID:18231738   PMID:18255367   PMID:18297062   PMID:18349132   PMID:18353781   PMID:18391499   PMID:18440840  
PMID:18480983   PMID:18504427   PMID:18519689   PMID:18549475   PMID:18598946   PMID:18663125   PMID:18974133   PMID:19051271   PMID:19064546   PMID:19094228   PMID:19274049   PMID:19276370  
PMID:19345188   PMID:19373776   PMID:19381684   PMID:19412634   PMID:19453261   PMID:19470737   PMID:19490893   PMID:19513566   PMID:19534813   PMID:19597909   PMID:19609939   PMID:19644484  
PMID:19802001   PMID:19816777   PMID:19821482   PMID:19851501   PMID:19860490   PMID:19863427   PMID:19954024   PMID:20007935   PMID:20019840   PMID:20025748   PMID:20079104   PMID:20140954  
PMID:20219012   PMID:20301368   PMID:20388391   PMID:20400975   PMID:20400976   PMID:20496080   PMID:20505321   PMID:20562331   PMID:20564230   PMID:20628624   PMID:20634891   PMID:20643727  
PMID:20646316   PMID:20696219   PMID:20714342   PMID:20804746   PMID:20818389   PMID:20838384   PMID:20857420   PMID:20920982   PMID:20943789   PMID:20970163   PMID:21083641   PMID:21123820  
PMID:21138866   PMID:21199805   PMID:21208645   PMID:21316706   PMID:21317430   PMID:21324165   PMID:21333765   PMID:21389145   PMID:21397860   PMID:21461979   PMID:21464926   PMID:21478681  
PMID:21502402   PMID:21503964   PMID:21532573   PMID:21539816   PMID:21559372   PMID:21559426   PMID:21594904   PMID:21677079   PMID:21732143   PMID:21740802   PMID:21748764   PMID:21796367  
PMID:21822911   PMID:21834956   PMID:21854747   PMID:21864967   PMID:21866569   PMID:21873635   PMID:21883379   PMID:21884981   PMID:21914771   PMID:21919891   PMID:21931630   PMID:21983900  
PMID:21994965   PMID:22002117   PMID:22006115   PMID:22006371   PMID:22007485   PMID:22020939   PMID:22050045   PMID:22056872   PMID:22060274   PMID:22102471   PMID:22110753   PMID:22155737  
PMID:22166980   PMID:22178381   PMID:22184289   PMID:22241470   PMID:22245869   PMID:22253230   PMID:22266852   PMID:22272264   PMID:22288519   PMID:22290439   PMID:22331730   PMID:22349827  
PMID:22354994   PMID:22360285   PMID:22407364   PMID:22441818   PMID:22457607   PMID:22515221   PMID:22532563   PMID:22544111   PMID:22576709   PMID:22581441   PMID:22581828   PMID:22654667  
PMID:22668877   PMID:22797064   PMID:22820497   PMID:22847601   PMID:22896337   PMID:22899291   PMID:22961111   PMID:22965800   PMID:22967435   PMID:22974478   PMID:22974479   PMID:22975381  
PMID:22982861   PMID:22983574   PMID:23029385   PMID:23041239   PMID:23052737   PMID:23056278   PMID:23095743   PMID:23135750   PMID:23150175   PMID:23158991   PMID:23161342   PMID:23167357  
PMID:23222305   PMID:23232513   PMID:23251661   PMID:23280703   PMID:23329645   PMID:23354436   PMID:23360823   PMID:23364532   PMID:23375009   PMID:23395237   PMID:23429988   PMID:23500436  
PMID:23527594   PMID:23530115   PMID:23613408   PMID:23621216   PMID:23623921   PMID:23664538   PMID:23682613   PMID:23684708   PMID:23691243   PMID:23696034   PMID:23741524   PMID:23775496  
PMID:23815808   PMID:23825006   PMID:23828164   PMID:23845905   PMID:23848983   PMID:23873099   PMID:23889968   PMID:23928864   PMID:23935104   PMID:23982216   PMID:23990016   PMID:23991044  
PMID:23994666   PMID:24002805   PMID:24023872   PMID:24051309   PMID:24051540   PMID:24085799   PMID:24092570   PMID:24113349   PMID:24117170   PMID:24148247   PMID:24150986   PMID:24157255  
PMID:24204899   PMID:24220291   PMID:24262325   PMID:24288553   PMID:24304426   PMID:24402192   PMID:24402692   PMID:24413082   PMID:24418088   PMID:24435707   PMID:24457449   PMID:24468065  
PMID:24469992   PMID:24491388   PMID:24525235   PMID:24607904   PMID:24719557   PMID:24805866   PMID:24833103   PMID:24848707   PMID:24870796   PMID:24885626   PMID:24895167   PMID:24895412  
PMID:24909638   PMID:24927592   PMID:24950909   PMID:25031735   PMID:25061102   PMID:25146389   PMID:25182808   PMID:25197348   PMID:25317801   PMID:25318604   PMID:25368381   PMID:25378227  
PMID:25402006   PMID:25402957   PMID:25414194   PMID:25426550   PMID:25429425   PMID:25446074   PMID:25460568   PMID:25472652   PMID:25475555   PMID:25501015   PMID:25506891   PMID:25528769  
PMID:25561797   PMID:25572815   PMID:25575080   PMID:25588661   PMID:25597482   PMID:25599843   PMID:25600770   PMID:25609649   PMID:25622896   PMID:25653024   PMID:25663706   PMID:25674256  
PMID:25677742   PMID:25684140   PMID:25704764   PMID:25716682   PMID:25744835   PMID:25759817   PMID:25760076   PMID:25780290   PMID:25784376   PMID:25814554   PMID:25867064   PMID:25868853  
PMID:25892968   PMID:25893917   PMID:25895023   PMID:25899063   PMID:25919570   PMID:25955272   PMID:25981568   PMID:26018318   PMID:26019273   PMID:26023736   PMID:26023795   PMID:26036627  
PMID:26055210   PMID:26071255   PMID:26088962   PMID:26115637   PMID:26124343   PMID:26141861   PMID:26163539   PMID:26194471   PMID:26196741   PMID:26198055   PMID:26202447   PMID:26214683  
PMID:26219899   PMID:26239019   PMID:26289126   PMID:26295469   PMID:26311513   PMID:26321866   PMID:26341138   PMID:26342198   PMID:26360779   PMID:26391953   PMID:26411101   PMID:26418365  
PMID:26459371   PMID:26590086   PMID:26602382   PMID:26621503   PMID:26656856   PMID:26693891   PMID:26718114   PMID:26718342   PMID:26762267   PMID:26774288   PMID:26782761   PMID:26819207  
PMID:26832177   PMID:26832848   PMID:26840564   PMID:26905590   PMID:26910679   PMID:26940738   PMID:26973246   PMID:26975371   PMID:26980408   PMID:26992674   PMID:27015364   PMID:27027434  
PMID:27048589   PMID:27060448   PMID:27105506   PMID:27113414   PMID:27121312   PMID:27170270   PMID:27171242   PMID:27228464   PMID:27237323   PMID:27280289   PMID:27281171   PMID:27315462  
PMID:27412325   PMID:27438288   PMID:27494849   PMID:27495232   PMID:27519276   PMID:27524420   PMID:27533647   PMID:27618486   PMID:27661106   PMID:27664809   PMID:27669657   PMID:27718152  
PMID:27724883   PMID:27769047   PMID:27793033   PMID:27835599   PMID:27876874   PMID:27878307   PMID:27881125   PMID:27884772   PMID:28032603   PMID:28033430   PMID:28035069   PMID:28061440  
PMID:28081635   PMID:28099910   PMID:28104986   PMID:28106542   PMID:28112378   PMID:28120266   PMID:28123352   PMID:28152509   PMID:28167680   PMID:28177885   PMID:28179498   PMID:28184914  
PMID:28220902   PMID:28223364   PMID:28256535   PMID:28283022   PMID:28300491   PMID:28337825   PMID:28345456   PMID:28346424   PMID:28368406   PMID:28369327   PMID:28430582   PMID:28466252  
PMID:28468988   PMID:28488542   PMID:28498365   PMID:28514442   PMID:28521820   PMID:28533522   PMID:28569420   PMID:28599281   PMID:28627611   PMID:28650334   PMID:28653599   PMID:28661037  
PMID:28671020   PMID:28677228   PMID:28677802   PMID:28710479   PMID:28713968   PMID:28718375   PMID:28765882   PMID:28779345   PMID:28791412   PMID:28815582   PMID:28832071   PMID:28843749  
PMID:28844842   PMID:28851812   PMID:28864720   PMID:28873262   PMID:28893347   PMID:28899457   PMID:28901319   PMID:28975990   PMID:28982309   PMID:28982853   PMID:28982860   PMID:28987542  
PMID:29016671   PMID:29037998   PMID:29063902   PMID:29088851   PMID:29101499   PMID:29115546   PMID:29159326   PMID:29204790   PMID:29233917   PMID:29237910   PMID:29277613   PMID:29299035  
PMID:29311157   PMID:29314610   PMID:29333702   PMID:29348456   PMID:29369542   PMID:29415155   PMID:29443542   PMID:29452232   PMID:29512775   PMID:29559227   PMID:29615148   PMID:29620151  
PMID:29663378   PMID:29693173   PMID:29748601   PMID:29754406   PMID:29774072   PMID:29795373   PMID:29844124   PMID:29891550   PMID:29908118   PMID:29909489   PMID:29920276   PMID:29950484  
PMID:29970507   PMID:30002443   PMID:30021598   PMID:30040876   PMID:30066890   PMID:30081924   PMID:30131448   PMID:30154425   PMID:30171258   PMID:30185783   PMID:30193732   PMID:30197332  
PMID:30213291   PMID:30226603   PMID:30229694   PMID:30240003   PMID:30246336   PMID:30272327   PMID:30309658   PMID:30368884   PMID:30509092   PMID:30518916   PMID:30518918   PMID:30548372  
PMID:30552711   PMID:30556860   PMID:30590988   PMID:30591455   PMID:30598410   PMID:30611739   PMID:30628676   PMID:30631154   PMID:30698309   PMID:30733340   PMID:30788837   PMID:30804457  
PMID:30819235   PMID:30846207   PMID:30847945   PMID:30903102   PMID:30919159   PMID:30941644   PMID:30942161   PMID:30973923   PMID:31001962   PMID:31016793   PMID:31022384   PMID:31131995  
PMID:31158427   PMID:31175094   PMID:31202462   PMID:31233187   PMID:31235507   PMID:31261917   PMID:31285765   PMID:31299755   PMID:31308076   PMID:31311807   PMID:31341908   PMID:31401158  
PMID:31487504   PMID:31545430   PMID:31545476   PMID:31578574   PMID:31639426   PMID:31669261   PMID:31676574   PMID:31705846   PMID:31742430   PMID:31823218   PMID:31842825   PMID:31877303  
PMID:31917787   PMID:31933479   PMID:31941509   PMID:31970942   PMID:32011235   PMID:32014459   PMID:32066880   PMID:32124963   PMID:32179550   PMID:32180088   PMID:32196584   PMID:32205869  
PMID:32248791   PMID:32264733   PMID:32265096   PMID:32271429   PMID:32337580   PMID:32340411   PMID:32368392   PMID:32388607   PMID:32434501   PMID:32461589   PMID:32469152   PMID:32549341  
PMID:32574556   PMID:32585183   PMID:32640040   PMID:32647142   PMID:32694731   PMID:32711119   PMID:32712748   PMID:32784485   PMID:32814053   PMID:33040790   PMID:33045527   PMID:33070258  
PMID:33106471   PMID:33108472   PMID:33170398   PMID:33235117   PMID:33340431   PMID:33369125   PMID:33378011   PMID:33381597   PMID:33420365   PMID:33510354   PMID:33565061   PMID:33582945  
PMID:33604811   PMID:33741336   PMID:33760121   PMID:33764901   PMID:33845139   PMID:33920140   PMID:33941102   PMID:34335965  


Genomics

Comparative Map Data
TWIST1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl719,020,991 - 19,117,636 (-)EnsemblGRCh38hg38GRCh38
GRCh38719,113,047 - 19,117,636 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37719,152,670 - 19,157,259 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36719,121,616 - 19,123,820 (-)NCBINCBI36hg18NCBI36
Build 34718,928,330 - 18,930,265NCBI
Celera719,134,693 - 19,136,894 (-)NCBI
Cytogenetic Map7p21.1NCBI
HuRef719,039,766 - 19,041,695 (-)NCBIHuRef
CHM1_1719,155,871 - 19,158,073 (-)NCBICHM1_1
CRA_TCAGchr7v2719,206,542 - 19,208,746 (-)NCBI
Twist1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391234,007,670 - 34,009,830 (+)NCBIGRCm39mm39
GRCm39 Ensembl1234,007,670 - 34,009,828 (+)Ensembl
GRCm381233,957,671 - 33,959,831 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1233,957,671 - 33,959,829 (+)EnsemblGRCm38mm10GRCm38
MGSCv371234,642,536 - 34,644,696 (+)NCBIGRCm37mm9NCBIm37
MGSCv361234,542,918 - 34,545,078 (+)NCBImm8
Celera1235,391,139 - 35,393,299 (+)NCBICelera
Cytogenetic Map12A3NCBI
cM Map1214.81NCBI
Twist1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2650,674,910 - 50,676,904 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl650,674,678 - 50,677,653 (+)Ensembl
Rnor_6.0653,401,241 - 53,403,235 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl653,401,109 - 53,403,214 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0663,023,523 - 63,025,517 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4652,605,869 - 52,607,863 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1652,609,172 - 52,609,784 (+)NCBI
Celera649,841,416 - 49,843,227 (+)NCBICelera
Cytogenetic Map6q16NCBI
Twist1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541022,003,981 - 22,005,483 (-)NCBIChiLan1.0ChiLan1.0
TWIST1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1719,086,842 - 19,088,398 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0719,761,041 - 19,765,665 (-)NCBIMhudiblu_PPA_v0panPan3
TWIST1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1432,910,643 - 32,912,659 (-)NCBI
ROS_Cfam_1.01433,303,139 - 33,305,160 (-)NCBI
UMICH_Zoey_3.11433,412,240 - 33,414,258 (-)NCBI
UNSW_CanFamBas_1.01433,113,407 - 33,115,426 (-)NCBI
UU_Cfam_GSD_1.01433,429,893 - 33,431,914 (-)NCBI
Twist1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511877,655,541 - 77,657,763 (-)NCBI
SpeTri2.0NW_0049365465,331,220 - 5,332,669 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TWIST1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1988,286,911 - 88,290,131 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2997,326,044 - 97,329,330 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TWIST1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12139,040,178 - 39,042,384 (+)NCBI
ChlSab1.1 Ensembl2139,040,547 - 39,041,146 (+)Ensembl
Vero_WHO_p1.0NW_02366604265,498,692 - 65,500,893 (-)NCBI
Twist1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473911,352,040 - 11,354,019 (+)NCBI

Position Markers
RH99312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37719,158,933 - 19,159,090UniSTSGRCh37
Build 36719,125,458 - 19,125,615RGDNCBI36
Celera719,138,532 - 19,138,689RGD
Cytogenetic Map7p21.2UniSTS
HuRef719,043,333 - 19,043,490UniSTS
CRA_TCAGchr7v2719,210,384 - 19,210,541UniSTS
GeneMap99-GB4 RH Map792.61UniSTS
M63649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37719,155,529 - 19,155,716UniSTSGRCh37
Build 36719,122,054 - 19,122,241RGDNCBI36
Celera719,135,130 - 19,135,317RGD
HuRef719,040,203 - 19,040,390UniSTS
CRA_TCAGchr7v2719,206,979 - 19,207,166UniSTS
TWIST1_2534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37719,154,978 - 19,155,673UniSTSGRCh37
Build 36719,121,503 - 19,122,198RGDNCBI36
Celera719,134,580 - 19,135,274RGD
HuRef719,039,653 - 19,040,347UniSTS
CRA_TCAGchr7v2719,206,429 - 19,207,123UniSTS
MARC_39127-39128:1075469460:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37719,155,400 - 19,156,400UniSTSGRCh37
GRCh37719,155,400 - 19,156,399UniSTSGRCh37
Build 36719,121,925 - 19,122,924RGDNCBI36
Celera719,135,002 - 19,136,000RGD
HuRef719,040,075 - 19,041,073UniSTS
CRA_TCAGchr7v2719,206,851 - 19,207,849UniSTS
STS-Y10871  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37719,156,088 - 19,156,307UniSTSGRCh37
Build 36719,122,613 - 19,122,832RGDNCBI36
Celera719,135,688 - 19,135,907RGD
Cytogenetic Map7p21.2UniSTS
HuRef719,040,761 - 19,040,980UniSTS
CRA_TCAGchr7v2719,207,537 - 19,207,756UniSTS
GeneMap99-GB4 RH Map787.83UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR580hsa-miR-580-3pOncomiRDBexternal_infoNANA22266852
MIR214hsa-miR-214-3pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCR//Western blotFunctional MTI22540680
MIR214hsa-miR-214-3pOncomiRDBexternal_infoNANA22540680

Predicted Target Of
Summary Value
Count of predictions:643
Count of miRNA genes:424
Interacting mature miRNAs:453
Transcripts:ENST00000242261, ENST00000354571, ENST00000443687
Prediction methods:Microtar, Miranda, Rnahybrid
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 509 694 339 93 25 11 2452 418 683 49 493 268 89 911 1155 4
Low 1618 1476 1009 166 272 86 1378 1207 1801 187 937 975 84 1 293 1135 1 2
Below cutoff 232 572 337 325 809 325 520 559 1233 148 15 318 1 494

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_149001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW173505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU619355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY372340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U80998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000242261   ⟹   ENSP00000242261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl719,115,468 - 19,117,636 (-)Ensembl
RefSeq Acc Id: ENST00000354571   ⟹   ENSP00000346582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl719,113,047 - 19,117,118 (-)Ensembl
RefSeq Acc Id: ENST00000443687   ⟹   ENSP00000416986
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl719,020,991 - 19,116,924 (-)Ensembl
RefSeq Acc Id: NM_000474   ⟹   NP_000465
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38719,115,468 - 19,117,636 (-)NCBI
GRCh37719,039,315 - 19,157,295 (-)NCBI
Build 36719,121,616 - 19,123,820 (-)NCBI Archive
HuRef719,039,766 - 19,041,695 (-)ENTREZGENE
CHM1_1719,155,871 - 19,158,073 (-)NCBI
CRA_TCAGchr7v2719,206,542 - 19,208,746 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_149001
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38719,113,047 - 19,117,636 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000465   ⟸   NM_000474
- UniProtKB: Q15672 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000242261   ⟸   ENST00000242261
RefSeq Acc Id: ENSP00000416986   ⟸   ENST00000443687
RefSeq Acc Id: ENSP00000346582   ⟸   ENST00000354571
Protein Domains
bHLH

Promoters
RGD ID:7210025
Promoter ID:EPDNEW_H10758
Type:initiation region
Name:TWIST1_2
Description:twist family bHLH transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10759  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38719,117,433 - 19,117,493EPDNEW
RGD ID:7210031
Promoter ID:EPDNEW_H10759
Type:multiple initiation site
Name:TWIST1_1
Description:twist family bHLH transcription factor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10758  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38719,117,636 - 19,117,696EPDNEW
RGD ID:6806337
Promoter ID:HG_KWN:56451
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000354786,   NM_000474,   OTTHUMT00000326430,   OTTHUMT00000326465,   UC010KUF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36719,123,546 - 19,124,046 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000474.4(TWIST1):c.395G>C (p.Arg132Pro) single nucleotide variant Craniosynostosis 1 [RCV000526309] Chr7:19116927 [GRCh38]
Chr7:19156550 [GRCh37]
Chr7:7p21.1
pathogenic|likely pathogenic|uncertain significance
TWIST1, 21-BP DUP duplication Saethre-Chotzen syndrome [RCV000008443] Chr7:7p21 pathogenic
NM_000474.4(TWIST1):c.460dup (p.Arg154fs) duplication Robinow-Sorauf syndrome [RCV000008445] Chr7:19116861..19116862 [GRCh38]
Chr7:19156484..19156485 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) duplication Craniosynostosis 1 [RCV000542446] Chr7:19117045..19117046 [GRCh38]
Chr7:19156668..19156669 [GRCh37]
Chr7:7p21.1
benign|uncertain significance
NM_000474.4(TWIST1):c.356A>C (p.Gln119Pro) single nucleotide variant Saethre-Chotzen syndrome [RCV000008438] Chr7:19116966 [GRCh38]
Chr7:19156589 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.309C>A (p.Tyr103Ter) single nucleotide variant Saethre-Chotzen syndrome [RCV000008439] Chr7:19117013 [GRCh38]
Chr7:19156636 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.368C>A (p.Ser123Ter) single nucleotide variant Saethre-Chotzen syndrome [RCV000008440] Chr7:19116954 [GRCh38]
Chr7:19156577 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.376G>T (p.Glu126Ter) single nucleotide variant Craniosynostosis 1 [RCV000706654]|Saethre-Chotzen syndrome [RCV000008441]|not provided [RCV001550722] Chr7:19116946 [GRCh38]
Chr7:19156569 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.392T>C (p.Leu131Pro) single nucleotide variant Saethre-Chotzen syndrome [RCV000008442] Chr7:19116930 [GRCh38]
Chr7:19156553 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) single nucleotide variant Saethre-Chotzen syndrome [RCV000008444] Chr7:19116781 [GRCh38]
Chr7:19156404 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.466A>G (p.Ile156Val) single nucleotide variant Saethre-Chotzen syndrome [RCV000008446] Chr7:19116856 [GRCh38]
Chr7:19156479 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.82C>T (p.Gln28Ter) single nucleotide variant Craniosynostosis 1 [RCV001390391]|Saethre-Chotzen syndrome with eyelid anomalies [RCV000008447] Chr7:19117240 [GRCh38]
Chr7:19156863 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter) single nucleotide variant Craniosynostosis 1 [RCV001059805]|Robinow-Sorauf syndrome [RCV000008448] Chr7:19117111 [GRCh38]
Chr7:19156734 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.556G>A (p.Ala186Thr) single nucleotide variant Craniosynostosis 1 [RCV000008449] Chr7:19116766 [GRCh38]
Chr7:19156389 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.563C>T (p.Ser188Leu) single nucleotide variant Craniosynostosis 1 [RCV000008450] Chr7:19116759 [GRCh38]
Chr7:19156382 [GRCh37]
Chr7:7p21.1
pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3
pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|See cases [RCV000052288] Chr7:14959516..19467349 [GRCh38]
Chr7:14999141..19506972 [GRCh37]
Chr7:14965666..19473497 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 copy number loss See cases [RCV000052289] Chr7:15133711..19642829 [GRCh38]
Chr7:15173336..19682452 [GRCh37]
Chr7:15139861..19648977 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1 copy number loss See cases [RCV000052304] Chr7:18505390..21417733 [GRCh38]
Chr7:18545013..21457351 [GRCh37]
Chr7:18511538..21423876 [NCBI36]
Chr7:7p21.1-15.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p21.1(chr7:18931530-19221396)x1 copy number loss See cases [RCV000052309] Chr7:18931530..19221396 [GRCh38]
Chr7:18971153..19261019 [GRCh37]
Chr7:18937678..19227544 [NCBI36]
Chr7:7p21.1
pathogenic
GRCh38/hg38 7p21.1(chr7:19054701-19321593)x3 copy number gain See cases [RCV000053414] Chr7:19054701..19321593 [GRCh38]
Chr7:19094324..19361216 [GRCh37]
Chr7:19060849..19327741 [NCBI36]
Chr7:7p21.1
uncertain significance
GRCh38/hg38 7p21.1(chr7:19066144-19263328)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053415]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053415]|See cases [RCV000053415] Chr7:19066144..19263328 [GRCh38]
Chr7:19105767..19302951 [GRCh37]
Chr7:19072292..19269476 [NCBI36]
Chr7:7p21.1
uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
NM_000474.4(TWIST1):c.308dup (p.Tyr103Ter) duplication Saethre-Chotzen syndrome [RCV000008437] Chr7:19117013..19117014 [GRCh38]
Chr7:19156636..19156637 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.250G>A (p.Gly84Ser) single nucleotide variant Craniosynostosis 1 [RCV001333466] Chr7:19117072 [GRCh38]
Chr7:19156695 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.508dup (p.Ser170fs) duplication Robinow-Sorauf syndrome [RCV001333467] Chr7:19116813..19116814 [GRCh38]
Chr7:19156436..19156437 [GRCh37]
Chr7:7p21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 copy number loss See cases [RCV000137236] Chr7:16121516..20607899 [GRCh38]
Chr7:16161141..20647522 [GRCh37]
Chr7:16127666..20614047 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3
pathogenic
GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3 copy number gain See cases [RCV000138724] Chr7:18660228..20666885 [GRCh38]
Chr7:18699851..20706508 [GRCh37]
Chr7:18666376..20673033 [NCBI36]
Chr7:7p21.1
uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) single nucleotide variant Craniosynostosis 1 [RCV000765953]|Craniosynostosis 1 [RCV001088369]|not provided [RCV000224073]|not specified [RCV000497302] Chr7:19117228 [GRCh38]
Chr7:19156851 [GRCh37]
Chr7:7p21.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000474.4(TWIST1):c.398_400del (p.Lys133del) deletion Inborn genetic diseases [RCV000622789] Chr7:19116922..19116924 [GRCh38]
Chr7:19156545..19156547 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) deletion Craniosynostosis 1 [RCV000653737]|not specified [RCV000248497] Chr7:19117046..19117063 [GRCh38]
Chr7:19156669..19156686 [GRCh37]
Chr7:7p21.1
benign|likely benign
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro) single nucleotide variant Craniosynostosis 1 [RCV000802635]|Saethre-Chotzen syndrome [RCV001263198]|not provided [RCV000489759] Chr7:19116993 [GRCh38]
Chr7:19156616 [GRCh37]
Chr7:7p21.1
likely pathogenic|uncertain significance
NM_000474.4(TWIST1):c.180C>T (p.Val60=) single nucleotide variant Craniosynostosis 1 [RCV000548880]|not provided [RCV001556108] Chr7:19117142 [GRCh38]
Chr7:19156765 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.367T>C (p.Ser123Pro) single nucleotide variant not provided [RCV000598314] Chr7:19116955 [GRCh38]
Chr7:19156578 [GRCh37]
Chr7:7p21.1
uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000474.4(TWIST1):c.276_293del (p.Ser94_Ser99del) deletion not provided [RCV000498484] Chr7:19117029..19117046 [GRCh38]
Chr7:19156652..19156669 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000474.4(TWIST1):c.301C>T (p.Gln101Ter) single nucleotide variant Craniosynostosis 1 [RCV000698045]|not provided [RCV000760816] Chr7:19117021 [GRCh38]
Chr7:19156644 [GRCh37]
Chr7:7p21.1
pathogenic|likely pathogenic
NC_000007.14:g.(?_19116693)_(19117341_?)del deletion Craniosynostosis 1 [RCV000557172] Chr7:19116693..19117341 [GRCh38]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.419C>A (p.Ser140Ter) single nucleotide variant not provided [RCV000579299] Chr7:19116903 [GRCh38]
Chr7:19156526 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.455C>A (p.Ala152Glu) single nucleotide variant Craniosynostosis 1 [RCV000539175] Chr7:19116867 [GRCh38]
Chr7:19156490 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.395_415del (p.Arg132_Leu138del) deletion Craniosynostosis 1 [RCV000554759] Chr7:19116907..19116927 [GRCh38]
Chr7:19156530..19156550 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.397_417dup (p.Lys133_Pro139dup) duplication Craniosynostosis 1 [RCV001390587]|Saethre-Chotzen syndrome [RCV000533193]|not provided [RCV001564317] Chr7:19116904..19116905 [GRCh38]
Chr7:19156527..19156528 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) duplication Craniosynostosis 1 [RCV001523571]|not provided [RCV000653739] Chr7:19117047..19117048 [GRCh38]
Chr7:19156670..19156671 [GRCh37]
Chr7:7p21.1
benign
NM_000474.4(TWIST1):c.33G>T (p.Ser11=) single nucleotide variant Craniosynostosis 1 [RCV000653738] Chr7:19117289 [GRCh38]
Chr7:19156912 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.346C>G (p.Arg116Gly) single nucleotide variant Craniosynostosis 1 [RCV000653736] Chr7:19116976 [GRCh38]
Chr7:19156599 [GRCh37]
Chr7:7p21.1
likely pathogenic
NM_000474.4(TWIST1):c.132_142del (p.Ser45fs) deletion Craniosynostosis 1 [RCV000653735] Chr7:19117180..19117190 [GRCh38]
Chr7:19156803..19156813 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.408dup (p.Thr137fs) duplication Craniosynostosis 1 [RCV000653734] Chr7:19116913..19116914 [GRCh38]
Chr7:19156536..19156537 [GRCh37]
Chr7:7p21.1
pathogenic|likely pathogenic
NM_000474.4(TWIST1):c.396_416dup (p.Lys133_Pro139dup) duplication Craniosynostosis 1 [RCV000653733]|not provided [RCV001092558] Chr7:19116905..19116906 [GRCh38]
Chr7:19156528..19156529 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.560T>C (p.Phe187Ser) single nucleotide variant Craniosynostosis 1 [RCV000653732] Chr7:19116762 [GRCh38]
Chr7:19156385 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.341A>C (p.Asn114Thr) single nucleotide variant Craniosynostosis 1 [RCV000653731] Chr7:19116981 [GRCh38]
Chr7:19156604 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.352C>G (p.Arg118Gly) single nucleotide variant Saethre-Chotzen syndrome [RCV000625526] Chr7:19116970 [GRCh38]
Chr7:19156593 [GRCh37]
Chr7:7p21.1
likely pathogenic|uncertain significance
NM_000474.4(TWIST1):c.350A>T (p.Glu117Val) single nucleotide variant Sweeney-Cox syndrome [RCV000512820] Chr7:19116972 [GRCh38]
Chr7:19156595 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.350A>G (p.Glu117Gly) single nucleotide variant Sweeney-Cox syndrome [RCV000513176] Chr7:19116972 [GRCh38]
Chr7:19156595 [GRCh37]
Chr7:7p21.1
pathogenic
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 copy number gain not provided [RCV000682908] Chr7:14544155..21719929 [GRCh37]
Chr7:7p21.2-15.3
pathogenic
NM_000474.4(TWIST1):c.398_418dup (p.Ser140Ter) duplication Craniosynostosis 1 [RCV000687499] Chr7:19116903..19116904 [GRCh38]
Chr7:19156526..19156527 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.90_111del (p.Lys33fs) deletion Craniosynostosis 1 [RCV000695036] Chr7:19117211..19117232 [GRCh38]
Chr7:19156834..19156855 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.487C>T (p.Leu163Phe) single nucleotide variant Craniosynostosis 1 [RCV000689034] Chr7:19116835 [GRCh38]
Chr7:19156458 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.203G>A (p.Ser68Asn) single nucleotide variant Craniosynostosis 1 [RCV000707424] Chr7:19117119 [GRCh38]
Chr7:19156742 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.475C>T (p.Leu159Phe) single nucleotide variant Craniosynostosis 1 [RCV001472415]|not provided [RCV000693539] Chr7:19116847 [GRCh38]
Chr7:19156470 [GRCh37]
Chr7:7p21.1
likely benign|uncertain significance
NM_000474.4(TWIST1):c.70C>G (p.Pro24Ala) single nucleotide variant Craniosynostosis 1 [RCV000695972] Chr7:19117252 [GRCh38]
Chr7:19156875 [GRCh37]
Chr7:7p21.1
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000474.4(TWIST1):c.277A>G (p.Ser93Gly) single nucleotide variant not provided [RCV001572689] Chr7:19117045 [GRCh38]
Chr7:19156668 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.-141C>T single nucleotide variant not provided [RCV001577437] Chr7:19117462 [GRCh38]
Chr7:19157085 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.-195T>C single nucleotide variant not provided [RCV001567473] Chr7:19117516 [GRCh38]
Chr7:19157139 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) single nucleotide variant Craniosynostosis 1 [RCV000877697] Chr7:19116953 [GRCh38]
Chr7:19156576 [GRCh37]
Chr7:7p21.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_000474.4(TWIST1):c.446T>G (p.Leu149Arg) single nucleotide variant Craniosynostosis 1 [RCV001035938] Chr7:19116876 [GRCh38]
Chr7:19156499 [GRCh37]
Chr7:7p21.1
pathogenic|uncertain significance
NM_000474.4(TWIST1):c.398_399delinsTT (p.Lys133Ile) indel Coronal craniosynostosis [RCV000788996] Chr7:19116923..19116924 [GRCh38]
Chr7:19156546..19156547 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.379G>A (p.Ala127Thr) single nucleotide variant Coronal craniosynostosis [RCV000788995] Chr7:19116943 [GRCh38]
Chr7:19156566 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.24G>T (p.Ser8=) single nucleotide variant not provided [RCV000876501] Chr7:19117298 [GRCh38]
Chr7:19156921 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.141C>A (p.Gly47=) single nucleotide variant not provided [RCV000920430] Chr7:19117181 [GRCh38]
Chr7:19156804 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.476T>C (p.Leu159Pro) single nucleotide variant Craniosynostosis 1 [RCV000802611] Chr7:19116846 [GRCh38]
Chr7:19156469 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.406C>A (p.Pro136Thr) single nucleotide variant Craniosynostosis 1 [RCV000811144] Chr7:19116916 [GRCh38]
Chr7:19156539 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.358C>T (p.Arg120Cys) single nucleotide variant Craniosynostosis 1 [RCV000808616] Chr7:19116964 [GRCh38]
Chr7:19156587 [GRCh37]
Chr7:7p21.1
pathogenic|uncertain significance
NM_000474.4(TWIST1):c.68_75dup (p.Arg26fs) duplication Craniosynostosis 1 [RCV000796206] Chr7:19117246..19117247 [GRCh38]
Chr7:19156869..19156870 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.328C>T (p.Arg110Trp) single nucleotide variant Craniosynostosis 1 [RCV000797570] Chr7:19116994 [GRCh38]
Chr7:19156617 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.277dup (p.Ser93fs) duplication Craniosynostosis 1 [RCV000803541] Chr7:19117044..19117045 [GRCh38]
Chr7:19156667..19156668 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.197del (p.Pro66fs) deletion Craniosynostosis 1 [RCV000799522] Chr7:19117125 [GRCh38]
Chr7:19156748 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.400_420dup (p.Ile134_Ser140dup) duplication Craniosynostosis 1 [RCV001381187]|Saethre-Chotzen syndrome [RCV000985276] Chr7:19116901..19116902 [GRCh38]
Chr7:19156524..19156525 [GRCh37]
Chr7:7p21.1
pathogenic|likely pathogenic
NM_000474.4(TWIST1):c.362C>T (p.Thr121Ile) single nucleotide variant TWIST1-related disorder [RCV000985114] Chr7:19116960 [GRCh38]
Chr7:19156583 [GRCh37]
Chr7:7p21.1
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1 copy number loss not provided [RCV001005911] Chr7:13886653..20267202 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_000474.4(TWIST1):c.96del (p.Lys33fs) deletion not provided [RCV001008266] Chr7:19117226 [GRCh38]
Chr7:19156849 [GRCh37]
Chr7:7p21.1
likely pathogenic
NM_000474.4(TWIST1):c.361A>C (p.Thr121Pro) single nucleotide variant Craniosynostosis 1 [RCV001239138] Chr7:19116961 [GRCh38]
Chr7:19156584 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.433A>G (p.Lys145Glu) single nucleotide variant Craniosynostosis 1 [RCV001246515] Chr7:19116889 [GRCh38]
Chr7:19156512 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.256_276del (p.Gly86_Gly92del) deletion Sweeney-Cox syndrome [RCV001197694] Chr7:19117046..19117066 [GRCh38]
Chr7:19156669..19156689 [GRCh37]
Chr7:7p21.1
benign
NM_000474.4(TWIST1):c.437T>G (p.Ile146Ser) single nucleotide variant Craniosynostosis 1 [RCV001219354] Chr7:19116885 [GRCh38]
Chr7:19156508 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) duplication Craniosynostosis 1 [RCV001312832]|Saethre-Chotzen syndrome [RCV001263200]|Sweeney-Cox syndrome [RCV001198862] Chr7:19116916..19116917 [GRCh38]
Chr7:19156539..19156540 [GRCh37]
Chr7:7p21.1
likely pathogenic|uncertain significance
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup) microsatellite Craniosynostosis 1 [RCV000951587]|not provided [RCV001572961] Chr7:19117062..19117063 [GRCh38]
Chr7:19156685..19156686 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.444C>T (p.Thr148=) single nucleotide variant not provided [RCV000909860] Chr7:19116878 [GRCh38]
Chr7:19156501 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.420G>C (p.Ser140=) single nucleotide variant Craniosynostosis 1 [RCV000875073] Chr7:19116902 [GRCh38]
Chr7:19156525 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.306_307del (p.Tyr103fs) deletion Saethre-Chotzen syndrome [RCV000984623] Chr7:19117015..19117016 [GRCh38]
Chr7:19156638..19156639 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser) single nucleotide variant not provided [RCV000870965] Chr7:19117075 [GRCh38]
Chr7:19156698 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.156C>T (p.Pro52=) single nucleotide variant not provided [RCV000938680] Chr7:19117166 [GRCh38]
Chr7:19156789 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.443C>T (p.Thr148Ile) single nucleotide variant Craniosynostosis 1 [RCV001212895] Chr7:19116879 [GRCh38]
Chr7:19156502 [GRCh37]
Chr7:7p21.1
likely pathogenic
NM_000474.4(TWIST1):c.177C>T (p.Gly59=) single nucleotide variant not provided [RCV000911868] Chr7:19117145 [GRCh38]
Chr7:19156768 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter) single nucleotide variant Craniosynostosis 1 [RCV000987855]|Saethre-Chotzen syndrome [RCV001263196] Chr7:19117013 [GRCh38]
Chr7:19156636 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.-137C>G single nucleotide variant not provided [RCV001555510] Chr7:19117458 [GRCh38]
Chr7:19157081 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.-125T>G single nucleotide variant not provided [RCV001560897] Chr7:19117446 [GRCh38]
Chr7:19157069 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val) single nucleotide variant Saethre-Chotzen syndrome [RCV001263197] Chr7:19116847 [GRCh38]
Chr7:19156470 [GRCh37]
Chr7:7p21.1
likely pathogenic
NM_000474.4(TWIST1):c.152G>A (p.Gly51Glu) single nucleotide variant Sweeney-Cox syndrome [RCV001198915]|not provided [RCV001092559] Chr7:19117170 [GRCh38]
Chr7:19156793 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.273_293dup (p.Gly92_Gly98dup) duplication Craniosynostosis 1 [RCV001048147] Chr7:19117028..19117029 [GRCh38]
Chr7:19156651..19156652 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.607T>C (p.Ter203Gln) single nucleotide variant not provided [RCV001567758] Chr7:19116715 [GRCh38]
Chr7:19156338 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.397A>T (p.Lys133Ter) single nucleotide variant Saethre-Chotzen syndrome [RCV001027722] Chr7:19116925 [GRCh38]
Chr7:19156548 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.321dup (p.Thr108fs) duplication Craniosynostosis 1 [RCV001250541] Chr7:19117000..19117001 [GRCh38]
Chr7:19156623..19156624 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.416C>T (p.Pro139Leu) single nucleotide variant Craniosynostosis 1 [RCV001204316] Chr7:19116906 [GRCh38]
Chr7:19156529 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.352C>A (p.Arg118Ser) single nucleotide variant Inborn genetic diseases [RCV001266062] Chr7:19116970 [GRCh38]
Chr7:19156593 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.171del (p.Gly59fs) deletion Saethre-Chotzen syndrome [RCV001263199] Chr7:19117151 [GRCh38]
Chr7:19156774 [GRCh37]
Chr7:7p21.1
likely pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 copy number loss Saethre-Chotzen syndrome [RCV001263216] Chr7:14470668..20385165 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
NM_000474.4(TWIST1):c.405C>G (p.Ile135Met) single nucleotide variant Craniosynostosis 1 [RCV001296627] Chr7:19116917 [GRCh38]
Chr7:19156540 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.484del (p.Val162fs) deletion Craniosynostosis 1 [RCV001343809] Chr7:19116838 [GRCh38]
Chr7:19156461 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.437T>C (p.Ile146Thr) single nucleotide variant Craniosynostosis 1 [RCV001307661] Chr7:19116885 [GRCh38]
Chr7:19156508 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.316C>G (p.Leu106Val) single nucleotide variant Craniosynostosis 1 [RCV001313204] Chr7:19117006 [GRCh38]
Chr7:19156629 [GRCh37]
Chr7:7p21.1
uncertain significance
NM_000474.4(TWIST1):c.54_73del (p.Ser18fs) deletion Craniosynostosis 1 [RCV001388570] Chr7:19117249..19117268 [GRCh38]
Chr7:19156872..19156891 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.587G>A (p.Trp196Ter) single nucleotide variant Craniosynostosis 1 [RCV001388848] Chr7:19116735 [GRCh38]
Chr7:19156358 [GRCh37]
Chr7:7p21.1
pathogenic
NM_000474.4(TWIST1):c.546G>T (p.Arg182=) single nucleotide variant Craniosynostosis 1 [RCV001459621] Chr7:19116776 [GRCh38]
Chr7:19156399 [GRCh37]
Chr7:7p21.1
likely benign
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) single nucleotide variant Craniosynostosis 1 [RCV001522281] Chr7:19116992 [GRCh38]
Chr7:19156615 [GRCh37]
Chr7:7p21.1
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12428 AgrOrtholog
COSMIC TWIST1 COSMIC
Ensembl Genes ENSG00000122691 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000242261 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346582 UniProtKB/TrEMBL
  ENSP00000416986 UniProtKB/TrEMBL
Ensembl Transcript ENST00000242261 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354571 UniProtKB/TrEMBL
  ENST00000443687 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000122691 GTEx
HGNC ID HGNC:12428 ENTREZGENE
Human Proteome Map TWIST1 Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Twist-related UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7291 UniProtKB/Swiss-Prot
NCBI Gene 7291 ENTREZGENE
OMIM 101400 OMIM
  123100 OMIM
  180750 OMIM
  601622 OMIM
  617746 OMIM
PANTHER PTHR23349:SF64 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37088 PharmGKB, RGD
PROSITE BHLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HLH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt H7BY00_HUMAN UniProtKB/TrEMBL
  H7C4D7_HUMAN UniProtKB/TrEMBL
  Q15672 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D128 UniProtKB/Swiss-Prot
  Q92487 UniProtKB/Swiss-Prot
  Q99804 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-25 TWIST1  twist family bHLH transcription factor 1  CRS  craniosynostosis  Data Merged 737654 PROVISIONAL
2013-10-22 TWIST1  twist family bHLH transcription factor 1    twist basic helix-loop-helix transcription factor 1  Symbol and/or name change 5135510 APPROVED
2013-01-02 TWIST1  twist basic helix-loop-helix transcription factor 1    twist homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-08-16 TWIST1  twist homolog 1 (Drosophila)  TWIST1  twist homolog 1 (Drosophila)  Symbol and/or name change 5135510 APPROVED