ConVarT

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

Missense Variant

Protein Altering Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
9-15471210-G-A	ENST00000380716	p.Gln333Ter	Stop Gained	0	0	0	rs781341735	lc_lof
9-15471210-G-A	ENST00000397519	p.Gln333Ter	Stop Gained	0	0	0	rs781341735	lc_lof
9-15471216-T-A	ENST00000380716	p.Asn331Tyr	Missense Variant	0	0	0	rs750809215
9-15471216-T-A	ENST00000397519	p.Asn331Tyr	Missense Variant	0	0	0	rs750809215
9-15471225-T-C	ENST00000380716	p.Thr328Ala	Missense Variant	0	0	0	rs1450576070
9-15471225-T-C	ENST00000397519	p.Thr328Ala	Missense Variant	0	0	0	rs1450576070
9-15472632-C-G	ENST00000380716	p.Glu325Asp	Missense Variant	0	0	0	rs761514208
9-15472632-C-G	ENST00000397519	p.Glu325Asp	Missense Variant	0	0	0	rs761514208
9-15472634-C-T	ENST00000380716	p.Glu325Lys	Missense Variant	0	0	0	rs1488613550
9-15472634-C-T	ENST00000397519	p.Glu325Lys	Missense Variant	0	0	0	rs1488613550
9-15472635-A-G	ENST00000380716	p.Thr324Thr	Synonymous Variant	2	31250	0.000064	rs766728171
9-15472635-A-G	ENST00000397519	p.Thr324Thr	Synonymous Variant	2	31250	0.000064	rs766728171
9-15472639-T-G	ENST00000380716	p.Glu323Ala	Missense Variant	0	0	0	rs755383902
9-15472639-T-G	ENST00000397519	p.Glu323Ala	Missense Variant	0	0	0	rs755383902
9-15472641-C-T	ENST00000380716	p.Met322Ile	Missense Variant	0	0	0	rs1489994668
9-15472641-C-T	ENST00000397519	p.Met322Ile	Missense Variant	0	0	0	rs1489994668
9-15472642-A-G	ENST00000380716	p.Met322Thr	Missense Variant	0	0	0	rs1196528446
9-15472642-A-G	ENST00000397519	p.Met322Thr	Missense Variant	0	0	0	rs1196528446
9-15472644-T-C	ENST00000380716	p.Gln321Gln	Synonymous Variant	0	0	0	rs1420872047
9-15472644-T-C	ENST00000397519	p.Gln321Gln	Synonymous Variant	0	0	0	rs1420872047

Showing 1 to 20 of 512 entries

Previous1 2 3 4 5…26Next

Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

Show entries

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

Previous1 2 3 4 5Next

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

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	Position
PSIP1_ENST00000380716	ENST00000380716	TCGA-CV-5439-01	upper_aerodigestive_tract	carcinoma	40022140	c.-58G>A	p.?	Unknown	NEUTRAL	.01826	Confirmed somatic variant	PMID: N/A	NS	0
PSIP1_ENST00000380716	ENST00000380716	ESCC_3	oesophagus	carcinoma	40023398	c.651_654del	p.S217Rfs*47	Deletion - Frameshift			Confirmed somatic variant	PMID: 28548104	primary	217
PSIP1_ENST00000380716	ENST00000380716	T3024	large_intestine	carcinoma	40021387	c.708G>T	p.E236D	Substitution - Missense	NEUTRAL	.29032	Confirmed somatic variant	PMID: 25344691	NS	236
PSIP1_ENST00000380716	ENST00000380716	XG7	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40023182	c.295A>G	p.T99A	Substitution - Missense	NEUTRAL	.09063	Variant of unknown origin	PMID: 30545397	NS	99
PSIP1_ENST00000380716	ENST00000380716	5-VS018-T1	skin	carcinoma	40022090	c.85C>T	p.P29S	Substitution - Missense	PATHOGENIC	.9548	Confirmed somatic variant	PMID: 26950094	NS	29
PSIP1_ENST00000380716	ENST00000380716	TCGA-CG-4306-01	stomach	carcinoma	40021843	c.544C>T	p.R182*	Substitution - Nonsense	PATHOGENIC	.76432	Confirmed somatic variant	PMID: N/A	NS	182
PSIP1_ENST00000380716	ENST00000380716	HCC61T	liver	carcinoma	40021358	c.-12C>T	p.?	Unknown	NEUTRAL	.4253	Reported in another cancer sample as somatic	PMID: N/A	primary	0
PSIP1_ENST00000380716	ENST00000380716	PCSI_0230_Pa_P_526	pancreas	carcinoma	40021376	c.858G>A	p.K286=	Substitution - coding silent	PATHOGENIC	.8861	Confirmed somatic variant	PMID: N/A	primary	286
PSIP1_ENST00000380716	ENST00000380716	TCGA-HU-A4H4-01	stomach	carcinoma	40021661	c.-19C>T	p.?	Unknown		.55532	Confirmed somatic variant	PMID: N/A	NS	0
PSIP1_ENST00000380716	ENST00000380716	H1573	lung	carcinoma	40022509	c.150-1G>T	p.?	Unknown	PATHOGENIC	.96627	Reported in another cancer sample as somatic	PMID: 29681454	NS	0
PSIP1_ENST00000380716	ENST00000380716	EOPC-141_tumor_01	prostate	carcinoma	40021562	c.149+1019C>A	p.?	Unknown	NEUTRAL	.01785	Confirmed somatic variant	PMID: N/A	primary	0
PSIP1_ENST00000380716	ENST00000380716	EXTERN_MELA_20140526_051	skin	malignant_melanoma	40022441	c.766G>T	p.E256*	Substitution - Nonsense	PATHOGENIC	.98733	Confirmed somatic variant	PMID: 28467829	primary	256
PSIP1_ENST00000380716	ENST00000380716	T613	large_intestine	carcinoma	40021166	c.211C>T	p.P71S	Substitution - Missense	PATHOGENIC	.96444	Confirmed somatic variant	PMID: 27149842	NS	71
PSIP1_ENST00000380716	ENST00000380716	1100-01-2TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40023707	c.775T>A	p.S259T	Substitution - Missense	PATHOGENIC	.83044	Confirmed somatic variant	PMID: N/A	primary	259
PSIP1_ENST00000380716	ENST00000380716	8067226	pancreas	carcinoma	40023179	c.150-6459T>G	p.?	Unknown	NEUTRAL	.02042	Confirmed somatic variant	PMID: N/A	NS	0
PSIP1_ENST00000380716	ENST00000380716	PD36140a	skin	malignant_melanoma	40023805	c.859-2A>G	p.?	Unknown	PATHOGENIC	.94029	Confirmed somatic variant	PMID: 33024263	metastasis	0
PSIP1_ENST00000380716	ENST00000380716	T_CCA_IT_2	biliary_tract	carcinoma	40021569	c.149+8057del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
PSIP1_ENST00000380716	ENST00000380716	TCGA-EK-A2R8-01	cervix	carcinoma	40022061	c.262C>T	p.P88S	Substitution - Missense	PATHOGENIC	.96444	Confirmed somatic variant	PMID: N/A	primary	88
PSIP1_ENST00000380716	ENST00000380716	TCGA-UY-A78M-01	urinary_tract	carcinoma	40021587	c.255_256insCT	p.N86Lfs*6	Insertion - Frameshift			Confirmed somatic variant	PMID: N/A	primary	86
PSIP1_ENST00000380716	ENST00000380716	TCGA-BS-A0TE-01	endometrium	carcinoma	40021242	c.961C>A	p.Q321K	Substitution - Missense	PATHOGENIC	.9697	Confirmed somatic variant	PMID: N/A	primary	321

Showing 1 to 20 of 320 entries

Previous1 2 3 4 5…16Next

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

Description:	PC4 and SFRS1 interacting protein 1 [Source:NCBI gene;Acc:664733]
Synonyms:
Other ID(s):	ENSMMUG00000002224
Protein Accession Numbers:	XP_014973139, XP_014973138
Statistics:	ClinVar(2) gnomAD(512) COSMIC(320) PTM(82)

Classification of Clinicial Significance of ClinVar Data