ConVarT

psip1a (GeneID: 553760) | Danio rerio

Description:	PC4 and SFRS1 interacting protein 1a [Source:ZFIN;Acc:ZDB-GENE-050522-104]
Synonyms:	im:7149861, zgc:109898, psip1
Other ID(s):	ENSDARG00000104710, ZDB-GENE-050522-104
Protein Accession Numbers:	XP_005159950, XP_009289823, NP_001018562, XP_005159951
Statistics:	ClinVar(2) PTM(82)

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.
ENST00000380715 ENST00000380716 ENST00000380733 ENST00000380738 ENST00000397519 ENST00000481862 NP_001121689 NP_001304827 NP_001304829 You are here now! NP_066967 NP_150091

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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
PSIP1	O75475	Ubiquitination	100	K100-ub	ssQQAAtkQsNAssD	60.1	12361962
PSIP1	O75475	Phosphorylation	102	S102-p	QQAAtkQsNAssDVE	60.1	5881191
PSIP1	O75475	Phosphorylation	105	S105-p	AtkQsNAssDVEVEE	60.1	3214920
PSIP1	O75475	Phosphorylation	106	S106-p	tkQsNAssDVEVEEK	60.1	453948
PSIP1	O75475	Phosphorylation	115	T115-p	VEVEEKEtsVsKEDt	60.1	481499
PSIP1	O75475	Phosphorylation	116	S116-p	EVEEKEtsVsKEDtD	60.1	3214923
PSIP1	O75475	Phosphorylation	118	S118-p	EEKEtsVsKEDtDHE	60.1	481498
PSIP1	O75475	Phosphorylation	122	T122-p	tsVsKEDtDHEEKAs	60.1	468522
PSIP1	O75475	Phosphorylation	129	S129-p	tDHEEKAsNEDVTkA	60.1	468519
PSIP1	O75475	Ubiquitination	135	K135-ub	AsNEDVTkAVDIttP	60.1	15395497
PSIP1	O75475	Ubiquitination	14	K14-ub	PGDLIFAkMkGyPHW	60.1	15395488
PSIP1	O75475	Phosphorylation	140	T140-p	VTkAVDIttPkAARR	60.1	14578364
PSIP1	O75475	Phosphorylation	141	T141-p	TkAVDIttPkAARRG	60.1	456106
PSIP1	O75475	Ubiquitination	143	K143-ub	AVDIttPkAARRGRK	60.1	603485430
PSIP1	O75475	Phosphorylation	159	T159-p	KAEKQVEtEEAGVVt	60.1	28029596
PSIP1	O75475	Ubiquitination	16	K16-ub	DLIFAkMkGyPHWPA	60.1	15395491
PSIP1	O75475	Phosphorylation	166	T166-p	tEEAGVVttAtAsVN	60.1	4771157
PSIP1	O75475	Phosphorylation	167	T167-p	EEAGVVttAtAsVNL	60.1	4931268
PSIP1	O75475	Phosphorylation	169	T169-p	AGVVttAtAsVNLKV	60.1	4771162
PSIP1	O75475	Phosphorylation	171	S171-p	VVttAtAsVNLKVsP	60.1	4771167

Showing 1 to 20 of 82 entries

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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
PF00855	PWWP	PWWP domain	8-89	CL0049	Tudor	Homo sapiens
PF11467	LEDGF	Lens epithelium-derived growth factor (LEDGF)	349-450			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.555	0.655
Acute Myeloid Leukemia, M1	Neoplasms ;	0.555	0.655
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.555	0.655
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data