ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	rsNumber
19-47524322-C-T	ENST00000449844	p.Pro6Pro	Synonymous Variant	rs759280181
19-47524322-C-T	ENST00000602212	p.Pro6Pro	Synonymous Variant	rs759280181
19-47524323-G-A	ENST00000449844	p.Gly7Ser	Missense Variant	rs752507630
19-47524323-G-A	ENST00000602212	p.Gly7Ser	Missense Variant	rs752507630
19-47524332-G-A	ENST00000449844	p.Gly10Ser	Missense Variant	rs760670728
19-47524332-G-A	ENST00000602212	p.Gly10Ser	Missense Variant	rs760670728
19-47524332-G-T	ENST00000449844	p.Gly10Cys	Missense Variant	rs760670728
19-47524332-G-T	ENST00000602212	p.Gly10Cys	Missense Variant	rs760670728
19-47524334-C-T	ENST00000449844	p.Gly10Gly	Synonymous Variant	rs763991189
19-47524334-C-T	ENST00000602212	p.Gly10Gly	Synonymous Variant	rs763991189
19-47524335-G-A	ENST00000449844	p.Gly11Arg	Missense Variant	rs750511443
19-47524335-G-A	ENST00000602212	p.Gly11Arg	Missense Variant	rs750511443
19-47524341-G-C	ENST00000449844	p.Glu13Gln	Missense Variant	rs758589867
19-47524341-G-C	ENST00000602212	p.Glu13Gln	Missense Variant	rs758589867
19-47524344-G-A	ENST00000449844	p.Val14Ile	Missense Variant	rs1293851657
19-47524344-G-A	ENST00000602212	p.Val14Ile	Missense Variant	rs1293851657
19-47524345-T-C	ENST00000449844	p.Val14Ala	Missense Variant	rs766684572
19-47524345-T-C	ENST00000602212	p.Val14Ala	Missense Variant	rs766684572
19-47524346-C-G	ENST00000449844	p.Val14Val	Synonymous Variant	rs375555130
19-47524346-C-G	ENST00000602212	p.Val14Val	Synonymous Variant	rs375555130

Showing 1 to 20 of 1,216 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NPAS1	Q99742	Phosphorylation	12	S12-p	YPGSGGGsEVKCVGG	62.7	25302611
NPAS1	Q99742	Phosphorylation	216	S216-p	TPPSVSSssssSSSL	62.7	23255514
NPAS1	Q99742	Phosphorylation	217	S217-p	PPSVSSssssSSSLA	62.7	23255517
NPAS1	Q99742	Phosphorylation	218	S218-p	PSVSSssssSSSLAD	62.7	5966785
NPAS1	Q99742	Phosphorylation	219	S219-p	SVSSssssSSSLADT	62.7	23255520

Showing 1 to 5 of 5 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
NPAS1	ENST00000602212	T328	large_intestine	carcinoma	94419853	c.1441G>A	p.E481K	Substitution - Missense		.50217	Confirmed somatic variant	PMID: 27149842	NS	481
NPAS1	ENST00000602212	GBM20-R3	central_nervous_system	glioma	94419601	c.716C>T	p.S239F	Substitution - Missense	NEUTRAL	.0405	Confirmed somatic variant	PMID: 28263318	recurrent	239
NPAS1	ENST00000602212	TCGA-FS-A1Z4-06	skin	malignant_melanoma	94419865	c.874C>A	p.P292T	Substitution - Missense	PATHOGENIC	.9829	Confirmed somatic variant	PMID: N/A	NS	292
NPAS1	ENST00000602212	5-VS030-T1	skin	carcinoma	94420588	c.159G>A	p.A53=	Substitution - coding silent	NEUTRAL	.21338	Confirmed somatic variant	PMID: 26950094	NS	53
NPAS1	ENST00000602212	T3479	large_intestine	carcinoma	94419651	c.814G>A	p.V272M	Substitution - Missense	PATHOGENIC	.97342	Confirmed somatic variant	PMID: 27149842	NS	272
NPAS1	ENST00000602212	D85T	thyroid	carcinoma	94419451	c.1712C>T	p.P571L	Substitution - Missense	PATHOGENIC	.96464	Confirmed somatic variant	PMID: N/A	primary	571
NPAS1	ENST00000602212	ccRCC-64	kidney	carcinoma	94419575	c.1150G>C	p.A384P	Substitution - Missense	PATHOGENIC	.98501	Confirmed somatic variant	PMID: 23797736	NS	384
NPAS1	ENST00000602212	PD23558a	breast	carcinoma	94420078	c.689-1438G>A	p.?	Unknown	NEUTRAL	.01681	Confirmed somatic variant	PMID: N/A	NS	0
NPAS1	ENST00000602212	OSCC-GB_00410111	upper_aerodigestive_tract	carcinoma	94419139	c.802A>T	p.K268*	Substitution - Nonsense	PATHOGENIC	.98305	Confirmed somatic variant	PMID: N/A	NS	268
NPAS1	ENST00000602212	BN26	liver	carcinoma	94419137	c.432+29C>T	p.?	Unknown	NEUTRAL	.05364	Confirmed somatic variant	PMID: N/A	NS	0
NPAS1	ENST00000602212	BN26	liver	carcinoma	94419136	c.432+28G>A	p.?	Unknown	NEUTRAL	.00714	Confirmed somatic variant	PMID: N/A	NS	0
NPAS1	ENST00000602212	T263	large_intestine	carcinoma	94420024	c.876G>C	p.P292=	Substitution - coding silent	NEUTRAL	.01044	Confirmed somatic variant	PMID: 25344691	NS	292
NPAS1	ENST00000602212	TCGA-RQ-AAAT-01	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	94419974	c.171G>C	p.R57=	Substitution - coding silent		.66762	Confirmed somatic variant	PMID: N/A	primary	57
NPAS1	ENST00000602212	T_CCA_IT_2	biliary_tract	carcinoma	94419347	c.359-4576_359-4575insT	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
NPAS1	ENST00000602212	C0050T	kidney	NS	94419288	c.359-1081T>G	p.?	Unknown	NEUTRAL	.0002	Confirmed somatic variant	PMID: N/A	NS	0
NPAS1	ENST00000602212	ESCC_164	oesophagus	carcinoma	94420189	c.1270G>A	p.V424M	Substitution - Missense	NEUTRAL	.01805	Confirmed somatic variant	PMID: 26873401	NS	424
NPAS1	ENST00000602212	LUAD-S01345	lung	carcinoma	94420408	c.330G>A	p.L110=	Substitution - coding silent	NEUTRAL	.12828	Variant of unknown origin	PMID: 22980975	primary	110
NPAS1	ENST00000602212	C0050T	kidney	NS	94419323	c.359-1083T>G	p.?	Unknown	NEUTRAL	.00196	Confirmed somatic variant	PMID: N/A	NS	0
NPAS1	ENST00000602212	TCGA-AM-5820-01	large_intestine	carcinoma	94419561	c.1035G>A	p.Q345=	Substitution - coding silent	PATHOGENIC	.75505	Confirmed somatic variant	PMID: N/A	NS	345
NPAS1	ENST00000602212	PD9842a	breast	carcinoma	94420063	c.1218-114A>G	p.?	Unknown	NEUTRAL	.00023	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 356 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00010	HLH	Helix-loop-helix DNA-binding domain	46-97			Homo sapiens
PF00989	PAS	PAS fold	139-202	CL0183	PAS_Fold	Homo sapiens
PF08447	PAS_3	PAS fold	315-401	CL0183	PAS_Fold	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Psychotic Disorders	Mental Disorders ;	0.928	0.034
Schizophrenia	Mental Disorders ;	0.928	0.034
Nonorganic psychosis	N/A	0.928	0.034
NO RESULT FOUND

Description:	trachealess [Source:FlyBase;Acc:FBgn0262139]
Synonyms:	Dmel_CG42865, CG13885, RH, 3.1, G6883, Dmel\CG42865, BP1081, l(3)10512, DMU42699, CG42865, Trh, bHLHe13, HDC07747
Other ID(s):	FBgn0262139
Protein Accession Numbers:	NP_001036575, NP_001261210, NP_001261207, NP_001261209, NP_001097461, NP_523872, NP_001261208
Statistics:	gnomAD(1216) COSMIC(356) PTM(5)

Classification of Clinicial Significance of ClinVar Data