DrLLPS - Data resource of LLPS

ClinVar
TumorFusions
OMIM
DisGeNET
GWASdb
ActiveDriverDB

ClinVar
RS ID	AA Pos	AA residue	Chr	Pos	Ref	Alt
rs386352339	230	A->V	1	107324724	C	T

TumorFusions
Cancer	Gene	Chr	Strand	Junction	Tier	Frame	Centrality
SKCM	CALN1	7	-1	71252887	Tier3	Out-of-frame	0.35558
BRCA	FAM69A	1	-1	93426933	Tier1	Out-of-frame	0.34222
LUAD	HSPG2	1	-1	22222415	Tier1	Out-of-frame	0.36869
LUAD	MKL1	22	-1	41032482	Tier1	5UTR-CDS	0.36424
SKCM	WARS2	1	-1	119618973	Tier1	Out-of-frame	NA

OMIM
MIM Number	MIM Entry Type	Entrez ID	Approved Gene Symbol
608818	Gene	22854	NTNG1

DisGeNET
Disease Name	Score	Nof References	Nof SNPs	Source
Autistic Disorder	0.0002747267842131	1	0	BEFREE
Bipolar Disorder	0.200549453568426	2	0	BEFREE; CTD_human
Malignant tumor of colon	0.0002747267842131	1	0	BEFREE
Colorectal Carcinoma	0.0005494535684262	2	0	BEFREE
Colorectal Neoplasms	0.2	1	0	CTD_human
Deafness	0.2	0	0	HPO
Patent ductus arteriosus	0.0002747267842131	1	0	BEFREE
Epilepsy	0.200274726784213	1	0	BEFREE; HPO
Gastroesophageal reflux disease	0.2	0	0	HPO
Hearing Loss, Partial	0.2	0	0	HPO
Heartburn	0.2	0	0	HPO
Macrostomia	0.2	0	0	HPO
Mental Retardation	0.2	0	0	HPO
Movement Disorders	0.2	0	0	HPO
Muscle Spasticity	0.2	0	0	HPO
Neoplasm Metastasis	0.0005494535684262	2	0	BEFREE
Parkinson Disease	0.002407028523288	1	0	GAD
Rett Syndrome	0.203557092817453	3	0	BEFREE; LHGDN; ORPHANET
Schizophrenia	0.212202969465695	7	0	BEFREE; CTD_human; GAD; LHGDN
Seizures	0.200274726784213	1	0	BEFREE; HPO
Tobacco Use Disorder	0.002407028523288	1	0	GAD
Electroencephalogram abnormal	0.2	0	0	HPO
Tumor Progression	0.0002747267842131	1	0	BEFREE
Neuroendocrine Tumors	0.0002747267842131	1	0	BEFREE
Cerebral atrophy	0.2	0	0	HPO
Congenital deafness	0.2	0	0	HPO
Nephrolithiasis	0.2	0	0	HPO
Flexion contracture of proximal interphalangeal joint	0.2	0	0	HPO
Lupus Erythematosus	0.002407028523288	1	0	GAD
Fine hair	0.2	0	0	HPO
Low intelligence	0.2	0	0	HPO
Small head	0.2	0	0	HPO
Wide nose	0.2	0	0	HPO
Carcinogenesis	0.0002747267842131	1	0	BEFREE
Colon Carcinoma	0.0002747267842131	1	0	BEFREE
Mental deficiency	0.2	0	0	HPO
Drug Resistant Epilepsy	0.0002747267842131	1	0	BEFREE
Squamous cell carcinoma of the head and neck	0.0002747267842131	1	0	BEFREE
Hearing impairment	0.2	0	0	HPO
Colorectal Cancer	0.0005494535684262	2	0	BEFREE
Neurodevelopmental Disorders	0.0002747267842131	1	0	BEFREE
Thin hypoplastic alae nasi	0.2	0	0	HPO
Thick vermilion border	0.2	0	0	HPO
Loss of developmental milestones	0.2	0	0	HPO
Developmental regression	0.2	0	0	HPO
Poor school performance	0.2	0	0	HPO
Bilateral fifth finger clinodactyly	0.2	0	0	HPO
Psychomotor regression, progressive	0.2	0	0	HPO
Psychomotor regression in infants	0.2	0	0	HPO
Psychomotor regression	0.2	0	0	HPO
Psychomotor regression beginning in infancy	0.2	0	0	HPO
Neurodevelopmental regression	0.2	0	0	HPO
Mental deterioration in childhood	0.2	0	0	HPO
Long philtrum	0.2	0	0	HPO
Rett Syndrome, Atypical	0.200274726784213	1	0	BEFREE; ORPHANET
Dilated ventricles (finding)	0.2	0	0	HPO
Cerebellar hypoplasia and atrophy	0.2	0	0	HPO
Intellectual Disability	0.200274726784213	1	0	BEFREE; HPO
Dull intelligence	0.2	0	0	HPO
Abnormality of the fingernails	0.2	0	0	HPO
Abnormality of the metacarpal bones	0.2	0	0	HPO
Abnormality of the antitragus	0.2	0	0	HPO
Curvature of little finger	0.2	0	0	HPO

GWASdb
Chr	Position	RS ID	Ref	Alt	P-value	P-value Text	Drug Name	Drug Annotation	HPO ID	References
1	107920219	rs12747408	C	T	1.95E-05		IMMUNOGLOBULIN G	MEX3C PROTEIN, HUMAN\|ANTHRAX VACCINES\|RNA-BINDING PROTEINS\|SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS\|ANTIBODIES, BACTERIAL	HPOID:0005368	22658931
1	107929543	rs7544259	A	G	1.51E-05		IMMUNOGLOBULIN G	MEX3C PROTEIN, HUMAN\|ANTHRAX VACCINES\|RNA-BINDING PROTEINS\|SUPPRESSOR OF CYTOKINE SIGNALING PROTEINS\|ANTIBODIES, BACTERIAL	HPOID:0005368	22658931
1	108021506	rs653383	C	T	2.00E-04	Cognitive response of healthy volunteers to topiramate treatment as measure by the TrailsA cognitive test	TOPIRAMATE\|FRUCTOSE	ANTICONVULSANTS	HPOID:0100543	22091778

ActiveDriverDB
Position	Ref	Alt	Cancer	Sample ID
349	G	R	Pancancer	Comments: na blca tcga-bt-a20o-01a-21d-a14w-08 2437 1573
491	A	S	Pancancer	Comments: na blca tcga-fd-a3b6-01a-21d-a20d-08 18069 11486
421	Y	F	Pancancer	Comments: na blca tcga-gv-a3qi-01a-11d-a21z-08 25742 16422
27	W	C	Pancancer	Comments: na brca tcga-bh-a0bq-01a-21d-a10y-09 47205 30337
271	V	I	Pancancer	Comments: na coadread tcga-aa-a01k-01a-01w-a00e-09 76104 49187
230	A	V	Pancancer	Comments: na coadread tcga-ag-a016-01a-01w-a005-10 82340 53346
128	K	R	Pancancer	Comments: na gbm tcga-19-2631-01a-01d-1353-08 95258 61758
122	T	S	Pancancer	Comments: na kirc tcga-b0-4691-01a-01d-1361-10 157951 101523
297	C	S	Pancancer	Comments: na luad tcga-05-4427-01a-21d-1855-08 194062 123857
389	H	L	Pancancer	Comments: na luad tcga-38-4631-01a-01d-1753-08 218605 139808
389	H	P	Pancancer	Comments: na luad tcga-44-2668-01 222960 142598
336	R	Q	Pancancer	Comments: na luad tcga-44-3398-01a-01d-1105-08 223643 143027
305	V	L	Pancancer	Comments: na luad tcga-44-3918-01a-01d-1105-08 223874 143178
237	L	I	Pancancer	Comments: na luad tcga-49-4488-01a-01d-1753-08 229514 146879
200	T	K	Pancancer	Comments: na luad tcga-50-6590-01a-12d-1855-08 238775 152909
159	Q	K	Pancancer	Comments: na luad tcga-73-4668-01a-01d-1265-08 252934 162120
324	P	A	Pancancer	Comments: na lusc tcga-33-6737-01a-11d-1817-08 278508 179014
87	M	I	Pancancer	Comments: na ov tcga-04-1331-01a-01w-0486-08 315651 203613
429	H	P	Pancancer	Comments: na ov tcga-23-1110-01a-01d-0428-08 324537 209706
464	P	S	Pancancer	Comments: na ucec tcga-b5-a0jz-01a-11w-a062-09 349581 226222
244	Y	C	Pancancer	Comments: na ucec tcga-b5-a11u-01a-11d-a122-09 354355 229285
485	R	C	Pancancer	Comments: na ucec tcga-bs-a0te-01a-11d-a10b-09 363111 234897