ConVarT

fxyd6 (GeneID: 333987) | Danio rerio

Description:	FXYD domain containing ion transport regulator 6 [Source:ZFIN;Acc:ZDB-GENE-030131-5919]
Synonyms:	si:dkey-36i7.1, zgc:63716, wu:fi25c12
Other ID(s):	ENSDARG00000100971, ZDB-GENE-030131-5919
Protein Accession Numbers:	NP_956141
Statistics:	gnomAD(581) COSMIC(1028) PTM(2)

Post translational modifications (PTM) by Type

Phosphorylation

Ubiquitination

∙ 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.
ENST00000260282 You are here now! ENST00000524656 You are here now! ENST00000524841 ENST00000526014 You are here now! ENST00000527429 ENST00000527717 You are here now! ENST00000529335 ENST00000530956 You are here now! ENST00000539526 You are here now! ENST00000540359 You are here now! ENST00000584230 ENST00000584394 NP_001158303 You are here now! NP_001158304 You are here now! NP_001158308 You are here now! NP_001158309 You are here now! NP_071286 You are here now!

ClinVar Data

Show entries

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

Start Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	rsNumber
11-117710518-C-T	ENST00000260282	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000524656	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000526014	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000527717	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000530956	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000539526	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710518-C-T	ENST00000540359	p.Ter96Ter	Stop Retained Variant	rs764034898
11-117710520-G-A	ENST00000260282	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000524656	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000526014	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000527717	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000530956	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000539526	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710520-G-A	ENST00000540359	p.Asn95Asn	Synonymous Variant	rs1432514448
11-117710523-C-T	ENST00000260282	p.Glu94Glu	Synonymous Variant	rs776457375
11-117710523-C-T	ENST00000524656	p.Glu94Glu	Synonymous Variant	rs776457375
11-117710523-C-T	ENST00000526014	p.Glu94Glu	Synonymous Variant	rs776457375
11-117710523-C-T	ENST00000527717	p.Glu94Glu	Synonymous Variant	rs776457375
11-117710523-C-T	ENST00000530956	p.Glu94Glu	Synonymous Variant	rs776457375
11-117710523-C-T	ENST00000539526	p.Glu94Glu	Synonymous Variant	rs776457375

Showing 1 to 20 of 581 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
FXYD6	Q9H0Q3	Phosphorylation	34	Y34-p	MDPFHYDyQTLRIGG	10.54	40247708
FXYD6	Q9H0Q3	Ubiquitination	92	K92-ub	ANATEPQkAEN____	10.54	21175012

Showing 1 to 2 of 2 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Unknown

Show entries

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
FXYD6	ENST00000526014	PCSI_0082_Pa_P_526	pancreas	carcinoma	78438186	c.-6+5243C>T	p.?	Unknown	NEUTRAL	.00209	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	RK054_C01	liver	carcinoma	78437731	c.-5-10488G>C	p.?	Unknown	NEUTRAL	.01611	Variant of unknown origin	PMID: N/A	primary
FXYD6	ENST00000526014	J32_T	lung	carcinoma	78438260	c.*21+73G>A	p.?	Unknown	NEUTRAL	.01278	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	RK144_C01	liver	carcinoma	78438203	c.-6+7065G>T	p.?	Unknown	NEUTRAL	.087	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	PD6722a	breast	carcinoma	78438452	c.-6+1448G>C	p.?	Unknown	NEUTRAL	.00238	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	8031544	pancreas	carcinoma	78438941	c.-5-13783G>T	p.?	Unknown	NEUTRAL	.13274	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	44_T	lung	carcinoma	78437764	c.259+103G>T	p.?	Unknown	NEUTRAL	.28599	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	BD114T	biliary_tract	carcinoma	78438157	c.209+39T>A	p.?	Unknown	NEUTRAL	.05677	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	ML_75_T_01	skin	carcinoma	78437859	c.-6+8185T>G	p.?	Unknown	NEUTRAL	.0015	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	SCLC2_P_LN	lung	carcinoma	78437970	c.*883A>G	p.?	Unknown	NEUTRAL	.01484	Confirmed somatic variant	PMID: 30224629	metastasis
FXYD6	ENST00000526014	60T	liver	other	78438430	c.-6+5134G>A	p.?	Unknown	NEUTRAL	.00839	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	tumor_4139212	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	78437908	c.-5-16192C>T	p.?	Unknown	NEUTRAL	.0005	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	PCSI_0279_Pa_P_526	pancreas	carcinoma	78438295	c.-6+10692G>A	p.?	Unknown	NEUTRAL	.00076	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	BD233T	biliary_tract	carcinoma	78438499	c.-5-219G>T	p.?	Unknown	NEUTRAL	.01353	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	26T	liver	other	78438081	c.-5-368del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	26T	liver	other	78438079	c.*21+28C>A	p.?	Unknown	NEUTRAL	.0084	Confirmed somatic variant	PMID: N/A	primary
FXYD6	ENST00000526014	RK207_C01	liver	carcinoma	78438321	c.-6+15528G>A	p.?	Unknown	NEUTRAL	.08352	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	HCC107	liver	carcinoma	78437766	c.259+175A>T	p.?	Unknown	NEUTRAL	.00687	Confirmed somatic variant	PMID: N/A	NS
FXYD6	ENST00000526014	WT032	kidney	Wilms_tumour	78438149	c.260-71G>A	p.?	Unknown	NEUTRAL	.0015	Confirmed somatic variant	PMID: 25670083	NS
FXYD6	ENST00000526014	PCSI_0312_Pa_P_526	pancreas	carcinoma	78437876	c.172+282C>T	p.?	Unknown	NEUTRAL	.01639	Confirmed somatic variant	PMID: N/A	NS

Showing 1 to 20 of 1,028 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
PF02038	ATP1G1_PLM_MAT8	ATP1G1/PLM/MAT8 family	25-72			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.785	0.138
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.785	0.138
Acute Myeloid Leukemia, M1	Neoplasms ;	0.785	0.138
Schizophrenia	Mental Disorders ;	0.785	0.138
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.785	0.138
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data