ConVarT

NPHP1 (GeneID: 4867) | Homo sapiens

Description:	nephrocystin 1 [Source:HGNC Symbol;Acc:HGNC:7905]
Synonyms:	JBTS4, SLSN1, NPH1
Other ID(s):	ENSG00000144061, HGNC:7905
Protein Accession Numbers:	ENST00000316534.4, NP_000263, ENST00000422492, NP_997064, ENST00000393272, NP_001121651, ENST00000316534, ENST00000449600, ENST00000418527, NP_001361186, ENST00000355301, NP_001121650, ENST00000445609, ENST00000417665, NP_001361185
Statistics:	ClinVar(181) COSMIC(359) PTM(20)

ClinVar Pathogenicity of Variations

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000316534 ENST00000355301 ENST00000393272 You are here now! ENST00000417665 ENST00000418527 ENST00000422492 ENST00000445609 ENST00000449600 NP_000263 NP_001121650 NP_001121651 NP_001361185 NP_001361186 NP_997064 You are here now!

ClinVar Data

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

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
PF00018	SH3_1	SH3 domain	158-204	CL0010	SH3	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Cholestasis	Digestive System Diseases ;	0.619	0.552
Congenital ocular coloboma (disorder)	Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.619	0.552
Kidney Diseases	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.619	0.552
Renal dysplasia and retinal aplasia (disorder)	Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.619	0.552
Bardet-Biedl Syndrome	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.619	0.552
Cholestasis in newborn	N/A	0.619	0.552
Cystic Kidney Diseases	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.619	0.552
JOUBERT SYNDROME 4 (disorder)	Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.619	0.552
Nephronophthisis, familial juvenile	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.619	0.552
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.619	0.552
Ciliopathies	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.619	0.552
NO RESULT FOUND